NGS for inborn error
Title | Phenotype | Inheritance |
---|---|---|
ETFB | glutaric acidemia iib | AR |
GLUD1 | hyperinsulinism-hyperammonemia syndrome | AD |
HADHB | trifunctional protein deficiency | AR |
ETFDH | glutaric acidemia iic | AR |
HSD17B10 | hsd10 mitochondrial disease | XLD |
TAZ | barth syndrome | XLR |
CPT1A | cpt deficiency, hepatic, type ia | AR |
CPT2 | {encephalopathy, acute, infection-induced, 4, susceptibility to} | AD, AR |
CPT2 | cpt ii deficiency, infantile | AR |
CPT2 | cpt ii deficiency, lethal neonatal | AR |
CPT2 | cpt ii deficiency, myopathic, stress-induced | AD, AR |
HADHA | fatty liver, acute, of pregnancy | AR |
HADHA | hellp syndrome, maternal, of pregnancy | AR |
HADHA | lchad deficiency | AR |
HADHA | trifunctional protein deficiency | AR |
PPARG | [obesity, resistance to] | |
PPARG | {diabetes, type 2} | AD |
PPARG | insulin resistance, severe, digenic | AD |
PPARG | lipodystrophy, familial partial, type 3 | AD |
PPARG | obesity, severe | AD, AR, Mu |
HADH | 3-hydroxyacyl-coa dehydrogenase deficiency | AR |
HADH | hyperinsulinemic hypoglycemia, familial, 4 | AR |
SLC22A5 | carnitine deficiency, systemic primary | AR |
ACADS | acyl-coa dehydrogenase, short-chain, deficiency of | AR |
ACADM | acyl-coa dehydrogenase, medium chain, deficiency of | AR |
ETFA | glutaric acidemia iia | AR |
ACADVL | vlcad deficiency | AR |
ACAD9 | mitochondrial complex i deficiency, nuclear type 20 | AR |
SLC25A20 | carnitine-acylcarnitine translocase deficiency | AR |
HMGCL | hmg-coa lyase deficiency | AR |
Title | Phenotype | Inheritance |
---|---|---|
ALDOA | glycogen storage disease xii | AR |
ENO3 | ?glycogen storage disease xiii | AR |
GYS1 | glycogen storage disease 0, muscle | AR |
GYS2 | glycogen storage disease 0, liver | AR |
LDHA | glycogen storage disease xi | AR |
PHKG2 | cirrhosis due to liver phosphorylase kinase deficiency | |
PHKG2 | glycogen storage disease ixc | AR |
PHKB | phosphorylase kinase deficiency of liver and muscle, autosomal recessive | AR |
PHKA2 | glycogen storage disease, type ixa1 | XLR |
PHKA2 | glycogen storage disease, type ixa2 | XLR |
PHKA1 | muscle glycogenosis | XLR |
SLC37A4 | glycogen storage disease ib | AR |
SLC37A4 | glycogen storage disease ic | AR |
PRKAG2 | wolff-parkinson-white syndrome | AD |
GYG1 | ?glycogen storage disease xv | AR |
GYG1 | polyglucosan body myopathy 2 | AR |
GAA | glycogen storage disease ii | AR |
GBE1 | glycogen storage disease iv | AR |
GBE1 | polyglucosan body disease, adult form | AR |
PYGM | mcardle disease | AR |
PFKM | glycogen storage disease vii | AR |
AGL | glycogen storage disease iiia | AR |
AGL | glycogen storage disease iiib | AR |
PGAM2 | glycogen storage disease x | AR |
G6PC | glycogen storage disease ia | AR |
PYGL | glycogen storage disease vi | AR |
Title | Phenotype | Inheritance |
---|---|---|
DLD | dihydrolipoamide dehydrogenase deficiency | AR |
BCKDHB | maple syrup urine disease, type ib | AR |
DBT | maple syrup urine disease, type ii | AR |
BCKDHA | maple syrup urine disease, type ia | AR |
Title | Phenotype | Inheritance |
---|---|---|
MTR | {neural tube defects, folate-sensitive, susceptibility to} | AR |
MTR | homocystinuria-megaloblastic anemia, cblg complementation type | AR |
MTRR | {neural tube defects, folate-sensitive, susceptibility to} | AR |
MTRR | homocystinuria-megaloblastic anemia, cbl e type | AR |
ABCD4 | methylmalonic aciduria and homocystinuria, cblj type | AR |
CD320 | methylmalonic aciduria, transient, due to transcobalamin receptor defect | |
MLYCD | malonyl-coa decarboxylase deficiency | AR |
MMAA | methylmalonic aciduria, vitamin b12-responsive | AR |
MMAB | methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type | AR |
MCEE | methylmalonyl-coa epimerase deficiency | AR |
MMACHC | methylmalonic aciduria and homocystinuria, cblc type | AR |
MMADHC | homocystinuria, cbld type, variant 1 | AR |
MMADHC | methylmalonic aciduria and homocystinuria, cbld type | AR |
MMADHC | methylmalonic aciduria, cbld type, variant 2 | AR |
LMBRD1 | methylmalonic aciduria and homocystinuria, cblf type | AR |
ACSF3 | combined malonic and methylmalonic aciduria | |
MMUT | Methylmalonic aciduria, mut(0) type | AR |
Title | Phenotype | Inheritance |
---|---|---|
GLDC | glycine encephalopathy | AR |
AMT | glycine encephalopathy | AR |
GCSH | ?glycine encephalopathy | AR |
Title | Phenotype | Inheritance |
---|---|---|
OTC | ornithine transcarbamylase deficiency | XLR |
ASS1 | citrullinemia | AR |
NAGS | n-acetylglutamate synthase deficiency | AR |
ARG1 | argininemia | AR |
CPS1 | {pulmonary hypertension, neonatal, susceptibility to} | |
CPS1 | carbamoylphosphate synthetase i deficiency | AR |
ASL | argininosuccinic aciduria | AR |
SLC25A13= CITRIN | citrullinemia, adult-onset type ii | AR |
SLC25A13= CITRIN | citrullinemia, type ii, neonatal-onset | AR |
OTC | ornithine transcarbamylase deficiency | XLR |
Title | Phenotype | Inheritance |
---|---|---|
ALPL | hypophosphatasia, adult | AD, AR |
ALPL | hypophosphatasia, childhood | AR |
ALPL | hypophosphatasia, infantile | AR |
ALPL | odontohypophosphatasia | AD, AR |
Title | Phenotype | Inheritance |
---|---|---|
ENPP1 | {diabetes mellitus, non-insulin-dependent, susceptibility to} | AD |
ENPP1 | {obesity, susceptibility to} | AD, AR, Mu |
ENPP1 | arterial calcification, generalized, of infancy, 1 | AR |
ENPP1 | cole disease | AD |
ENPP1 | hypophosphatemic rickets, autosomal recessive, 2 | AR |
SLC34A1 | ?fanconi renotubular syndrome 2 | AR |
SLC34A1 | hypercalcemia, infantile, 2 | AR |
SLC34A1 | nephrolithiasis/osteoporosis, hypophosphatemic, 1 | AD |
CLCN5 | dent disease | XLR |
CLCN5 | hypophosphatemic rickets | XLR |
CLCN5 | nephrolithiasis, type i | XLR |
CLCN5 | proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | XLR |
PHEX | hypophosphatemic rickets, x-linked dominant | XLD |
DMP1 | hypophosphatemic rickets, ar | AR |
VDR | ?osteoporosis, involutional | AD |
VDR | rickets, vitamin d-resistant, type iia | AR |
KL | ?tumoral calcinosis, hyperphosphatemic, familial, 3 | |
FGF23 | hypophosphatemic rickets, autosomal dominant | AD |
FGF23 | osteomalacia, tumor-induced | |
FGF23 | tumoral calcinosis, hyperphosphatemic, familial, 2 | |
SLC34A3 | hypophosphatemic rickets with hypercalciuria | AR |
FAH | tyrosinemia, type i | AR |
Title | Phenotype | Inheritance |
---|---|---|
CASR | {epilepsy idiopathic generalized, susceptibility to, 8} | |
CASR | hyperparathyroidism, neonatal | AD, AR |
CASR | hypocalcemia, autosomal dominant | AD |
CASR | hypocalcemia, autosomal dominant, with bartter syndrome | AD |
CASR | hypocalciuric hypercalcemia, type i | AD |
CLCNKB | bartter syndrome, type 3 | AR |
CLCNKB | bartter syndrome, type 4b, digenic | DR |
CLDN16 | hypomagnesemia 3, renal | AR |
CLDN19 | hypomagnesemia 5, renal, with ocular involvement | AR |
CNNM1 | ||
CNNM2 | hypomagnesemia 6, renal | AD |
CNNM2 | hypomagnesemia, seizures, and mental retardation | AD, AR |
CNNM4 | jalili syndrome | AR |
EGF | hypomagnesemia 4, renal | |
FAM111A | gracile bone dysplasia | AD |
FAM111A | kenny-caffey syndrome, type 2 | AD |
FXYD2 | hypomagnesemia 2, renal | AD |
HNF1B | {renal cell carcinoma} | |
HNF1B | diabetes mellitus, noninsulin-dependent | AD |
HNF1B | renal cysts and diabetes syndrome | AD |
KCNA1 | episodic ataxia/myokymia syndrome | AD |
KCNJ10 | enlarged vestibular aqueduct, digenic | AR |
KCNJ10 | sesame syndrome | AR |
MAGT1 | congenital disorder of glycosylation, type icc | XLR |
MAGT1 | immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia | XLR |
MMGT1 | ||
NIPA2 | ||
PCBD1 | hyperphenylalaninemia, bh4-deficient, d | AR |
SARS2 | hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
SLC12A3 | gitelman syndrome | AR |
SLC41A2 | ||
SLC41A3 | ||
TRPM6 | hypomagnesemia 1, intestinal | AR |
TRPM7 | {amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to} | AD |
Title | Phenotype | Inheritance |
---|---|---|
AIRE | autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia | AD, AR |
AP2S1 | hypocalciuric hypercalcemia, type iii | AD |
CASR | {epilepsy idiopathic generalized, susceptibility to, 8} | |
CASR | hyperparathyroidism, neonatal | AD, AR |
CASR | hypocalcemia, autosomal dominant | AD |
CASR | hypocalcemia, autosomal dominant, with bartter syndrome | AD |
CASR | hypocalciuric hypercalcemia, type i | AD |
FAM111A | gracile bone dysplasia | AD |
FAM111A | kenny-caffey syndrome, type 2 | AD |
GATA3 | hypoparathyroidism, sensorineural deafness, and renal dysplasia | AD |
GCM2 | hyperparathyroidism 4 | AD |
GCM2 | hypoparathyroidism, familial isolated | AD, AR |
GNA11 | hypocalcemia, autosomal dominant 2 | AD |
GNA11 | hypocalciuric hypercalcemia, type ii | AD |
GNAS | acth-independent macronodular adrenal hyperplasia | SMu |
GNAS | mccune-albright syndrome, somatic, mosaic | |
GNAS | osseous heteroplasia, progressive | AD |
GNAS | pituitary adenoma 3, multiple types, somatic | |
GNAS | pseudohypoparathyroidism ia | AD |
GNAS | pseudohypoparathyroidism ib | AD |
GNAS | pseudohypoparathyroidism ic | AD |
GNAS | pseudopseudohypoparathyroidism | AD |
HADHA | fatty liver, acute, of pregnancy | AR |
HADHA | hellp syndrome, maternal, of pregnancy | AR |
HADHA | lchad deficiency | AR |
HADHA | trifunctional protein deficiency | AR |
HADHB | trifunctional protein deficiency | AR |
PTH | hypoparathyroidism, autosomal dominant | AD, AR |
PTH | hypoparathyroidism, autosomal recessive | AD, AR |
PTH1R | chondrodysplasia, blomstrand type | AR |
PTH1R | eiken syndrome | AR |
PTH1R | failure of tooth eruption, primary | AD |
PTH1R | metaphyseal chondrodysplasia, murk jansen type | AD |
SOX3 | mental retardation, x-linked, with isolated growth hormone deficiency | |
SOX3 | panhypopituitarism, x-linked | XL |
STX16 | pseudohypoparathyroidism, type ib | AD |
TBCE | encephalopathy, progressive, with amyotrophy and optic atrophy | AR |
TBCE | hypoparathyroidism-retardation-dysmorphism syndrome | AR |
TBCE | kenny-caffey syndrome, type 1 | AR |
Title | Phenotype | Inheritance |
---|---|---|
LIPA | Cholesteryl ester storage disease | AR |
LIPA | Wolman disease | AR |
GAA | Glycogen storage disease II | AR |
SMPD1 | Niemann-Pick disease, type A | AR |
SMPD1 | Niemann-Pick disease, type B | AR |
FUCA1 | Fucosidosis | AR |
GLA | Fabry disease | XL |
GLA | Fabry disease, cardiac variant | XL |
IDUA | Mucopolysaccharidosis Ih | AR |
IDUA | Mucopolysaccharidosis Ih/s | AR |
IDUA | Mucopolysaccharidosis Is | AR |
MAN2B1 | Mannosidosis, alpha-, types I and II | AR |
NAGA | Kanzaki disease | AR |
NAGA | Schindler disease, type I | AR |
NAGA | Schindler disease, type III | AR |
ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
GLB1 | GM1-gangliosidosis, type I | AR |
GLB1 | GM1-gangliosidosis, type II | AR |
GLB1 | GM1-gangliosidosis, type III | AR |
GLB1 | Mucopolysaccharidosis type IVB (Morquio) | AR |
GBA | {Lewy body dementia, susceptibility to} | AD |
GBA | {Parkinson disease, late-onset, susceptibility to} | AD, Mu |
GBA | Gaucher disease, perinatal lethal | AR |
GBA | Gaucher disease, type I | AR |
GBA | Gaucher disease, type II | AR |
GBA | Gaucher disease, type III | AR |
GBA | Gaucher disease, type IIIC | AR |
GUSB | Mucopolysaccharidosis VII | AR |
HEXA | [Hex A pseudodeficiency] | AR |
HEXA | GM2-gangliosidosis, several forms | AR |
HEXA | Tay-Sachs disease | AR |
MANBA | Mannosidosis, beta | AR |
HEXB | Sandhoff disease, infantile, juvenile, and adult forms | AR |
IDS | Mucopolysaccharidosis II | XLR |
NAGLU | ?Charcot-Marie-Tooth disease, axonal, type 2V | AD |
NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B) | AR |
GALNS | Mucopolysaccharidosis IVA | AR |
CLN1/PPT1 | Ceroid lipofuscinosis, neuronal, 1 | AR |
CLN2/TPP1 | Ceroid lipofuscinosis, neuronal, 2 | AR |
TPP1 | Spinocerebellar ataxia, autosomal recessive 7 | AR |
Title | Phenotype | Inheritance |
---|---|---|
ALG1 | congenital disorder of glycosylation, type ik | AR |
ALG11 | congenital disorder of glycosylation, type ip | AR |
ALG12 | congenital disorder of glycosylation, type ig | AR |
ALG13 | ?congenital disorder of glycosylation, type is | XLD |
ALG13 | epileptic encephalopathy, early infantile, 36 | XLD |
ALG2 | ?congenital disorder of glycosylation, type ii | AR |
ALG2 | myasthenic syndrome, congenital, 14, with tubular aggregates | AR |
ALG3 | congenital disorder of glycosylation, type id | AR |
ALG6 | congenital disorder of glycosylation, type ic | AR |
ALG8 | congenital disorder of glycosylation, type ih | AR |
ALG8 | polycystic liver disease 3 with or without kidney cysts | AD |
ALG9 | congenital disorder of glycosylation, type il | AR |
ALG9 | gillessen-kaesbach-nishimura syndrome | AR |
ATP6V0A2 | cutis laxa, autosomal recessive, type iia | AR |
ATP6V0A2 | wrinkly skin syndrome | AR |
B3GLCT | peters-plus syndrome | AR |
B4GALT1 | congenital disorder of glycosylation, type iid | AR |
COG1 | congenital disorder of glycosylation, type iig | AR |
COG4 | congenital disorder of glycosylation, type iij | AR |
COG4 | saul-wilson syndrome | AD |
COG5 | congenital disorder of glycosylation, type iii | |
COG6 | congenital disorder of glycosylation, type iil | AR |
COG6 | shaheen syndrome | AR |
COG7 | congenital disorder of glycosylation, type iie | AR |
COG8 | congenital disorder of glycosylation, type iih | |
DDOST | ?congenital disorder of glycosylation, type ir | AR |
DHDDS | ?congenital disorder of glycosylation, type 1bb | AR |
DHDDS | developmental delay and seizures with or without movement abnormalities | AD |
DHDDS | retinitis pigmentosa 59 | AR |
DOLK | congenital disorder of glycosylation, type im | AR |
DPAGT1 | congenital disorder of glycosylation, type ij | AR |
DPAGT1 | myasthenic syndrome, congenital, 13, with tubular aggregates | AR |
DPM1 | congenital disorder of glycosylation, type ie | AR |
DPM2 | congenital disorder of glycosylation, type iu | AR |
DPM3 | muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 | AR |
FUT8 | congenital disorder of glycosylation with defective fucosylation 1 | AR |
GMPPA | alacrima, achalasia, and mental retardation syndrome | AR |
GNE | nonaka myopathy | AR |
GNE | sialuria | AD |
MAGT1 | congenital disorder of glycosylation, type icc | XLR |
MAGT1 | immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia | XLR |
MAN1B1 | mental retardation, autosomal recessive 15 | AR |
MGAT2 | congenital disorder of glycosylation, type iia | AR |
MOGS | congenital disorder of glycosylation, type iib | AR |
MPDU1 | congenital disorder of glycosylation, type if | AR |
MPI | congenital disorder of glycosylation, type ib | AR |
NGLY1 | congenital disorder of deglycosylation | AR |
PGM1 | congenital disorder of glycosylation, type it | AR |
PMM2 | congenital disorder of glycosylation, type ia | AR |
RFT1 | congenital disorder of glycosylation, type in | AR |
SEC23B | ?cowden syndrome 7 | AD |
SEC23B | dyserythropoietic anemia, congenital, type ii | AR |
SLC35A1 | congenital disorder of glycosylation, type iif | AR |
SLC35A2 | congenital disorder of glycosylation, type iim | SMo, XLD |
SLC35C1 | congenital disorder of glycosylation, type iic | AR |
SRD5A3 | congenital disorder of glycosylation, type iq | AR |
SRD5A3 | kahrizi syndrome | AR |
SSR4 | congenital disorder of glycosylation, type iy | XLR |
STT3A | ?congenital disorder of glycosylation, type iw | AR |
STT3B | ?congenital disorder of glycosylation, type ix | AR |
TMEM165 | congenital disorder of glycosylation, type iik | AR |
TUSC3 | mental retardation, autosomal recessive 7 | AR |
Title | Phenotype | Inheritance |
---|---|---|
GCH1 | dystonia, dopa-responsive, with or without hyperphenylalaninemia | AD, AR |
GCH1 | hyperphenylalaninemia, bh4-deficient, b | AR |
PAH | [hyperphenylalaninemia, non-pku mild] | AR |
PAH | phenylketonuria | AR |
PCBD1 | hyperphenylalaninemia, bh4-deficient, d | AR |
PTS | hyperphenylalaninemia, bh4-deficient, a | AR |
QDPR | hyperphenylalaninemia, bh4-deficient, c | AR |
SPR | dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
Organic Acidemias Panel
Title | Phenotype | Inheritance |
---|---|---|
GCH1 | dystonia, dopa-responsive, with or without hyperphenylalaninemia | AD, AR |
GCH1 | hyperphenylalaninemia, bh4-deficient, b | AR |
PAH | [hyperphenylalaninemia, non-pku mild] | AR |
PAH | phenylketonuria | AR |
PCBD1 | hyperphenylalaninemia, bh4-deficient, d | AR |
PTS | hyperphenylalaninemia, bh4-deficient, a | AR |
QDPR | hyperphenylalaninemia, bh4-deficient, c | AR |
SPR | dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
Gene | Phenotype | |
ACAD8 | isobutyryl-coa dehydrogenase deficiency | |
ACADSB | 2-methylbutyrylglycinuria | |
ACAT1 | alpha-methylacetoacetic aciduria | |
ACSF3 | combined malonic and methylmalonic aciduria | |
ASPA | canavan disease | |
AUH | 3-methylglutaconic aciduria, type i | |
BCKDHA | maple syrup urine disease, type ia | |
BCKDHB | maple syrup urine disease, type ib | |
BTD | biotinidase deficiency | |
D2HGDH | d-2-hydroxyglutaric aciduria | |
DBT | maple syrup urine disease, type ii | |
DNAJC19 | 3-methylglutaconic aciduria, type v | |
ETFA | glutaric acidemia iia | |
ETFB | glutaric acidemia iib | |
ETFDH | glutaric acidemia iic | |
ETHE1 | ethylmalonic encephalopathy | |
FBP1 | fructose-1,6-bisphosphatase deficiency | |
FTCD | glutamate formiminotransferase deficiency | |
GCDH | glutaricaciduria, type i | |
GSS | glutathione synthetase deficiency | |
GSS | hemolytic anemia due to glutathione synthetase deficiency | |
HIBCH | 3-hydroxyisobutryl-coa hydrolase deficiency | |
HLCS | holocarboxylase synthetase deficiency | |
HMGCL | hmg-coa lyase deficiency | |
HSD17B10 | hsd10 mitochondrial disease | |
IDH2 | d-2-hydroxyglutaric aciduria 2 | |
IVD | isovaleric acidemia | |
L2HGDH | l-2-hydroxyglutaric aciduria | |
MCCC1 | 3-methylcrotonyl-coa carboxylase 1 deficiency | |
MCCC2 | 3-methylcrotonyl-coa carboxylase 2 deficiency | |
MCEE | methylmalonyl-coa epimerase deficiency | |
MLYCD | malonyl-coa decarboxylase deficiency | |
MMAA | methylmalonic aciduria, vitamin b12-responsive | |
MMAB | methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type | |
MMACHC | methylmalonic aciduria and homocystinuria, cblc type | |
MMADHC | homocystinuria, cbld type, variant 1 | |
MMADHC | methylmalonic aciduria and homocystinuria, cbld type | |
MMADHC | methylmalonic aciduria, cbld type, variant 2 | |
MUT | methylmalonic aciduria, mut(0) type | |
OPA3 | 3-methylglutaconic aciduria, type iii | |
OPA3 | optic atrophy 3 with cataract | |
OPLAH | 5-oxoprolinase deficiency | |
OXCT1 | succinyl coa:3-oxoacid coa transferase deficiency | |
PCCA | propionicacidemia | |
PCCB | propionicacidemia | |
POLG | mitochondrial dna depletion syndrome 4a (alpers type) | |
POLG | mitochondrial dna depletion syndrome 4b (mngie type) | |
POLG | mitochondrial recessive ataxia syndrome (includes sando and scae) | |
POLG | progressive external ophthalmoplegia, autosomal dominant 1 | |
POLG | progressive external ophthalmoplegia, autosomal recessive 1 | |
PPM1K | ?maple syrup urine disease, mild variant | |
SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | |
SLC25A1 | ?myasthenic syndrome, congenital, 23, presynaptic | |
SLC25A1 | combined d-2- and l-2-hydroxyglutaric aciduria | |
SUCLA2 | mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | |
SUCLG1 | mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | |
TAZ | barth syndrome | |
TMEM70 | mitochondrial complex v (atp synthase) deficiency, nuclear type 2 |
Title | Phenotype | Inheritance |
---|---|---|
DHTKD1 | ?charcot-marie-tooth disease, axonal, type 2q | AD |
DHTKD1 | 2-aminoadipic 2-oxoadipic aciduria | AR |
DLD | dihydrolipoamide dehydrogenase deficiency | AR |
FH | fumarase deficiency | AR |
FH | leiomyomatosis and renal cell cancer | AD |
NFU1 | multiple mitochondrial dysfunctions syndrome 1 | AR |
OGDH | alpha-ketoglutarate dehydrogenase deficiency | AR |
SLC13A5 | epileptic encephalopathy, early infantile, 25 | AR |
SLC25A19 | microcephaly, amish type | AR |
SLC25A19 | thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
Title | Phenotype | Inheritance |
---|---|---|
ABCC8 | diabetes mellitus, noninsulin-dependent | AD |
ABCC8 | diabetes mellitus, permanent neonatal | AD, AR |
ABCC8 | diabetes mellitus, transient neonatal 2 | |
ABCC8 | hyperinsulinemic hypoglycemia, familial, 1 | AD, AR |
ABCC8 | hypoglycemia of infancy, leucine-sensitive | AD |
AKT2 | diabetes mellitus, type ii | AD |
AKT2 | hypoinsulinemic hypoglycemia with hemihypertrophy | AD |
AKT3 | megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
ALG3 | congenital disorder of glycosylation, type id | AR |
ALG6 | congenital disorder of glycosylation, type ic | AR |
GCK | diabetes mellitus, noninsulin-dependent, late onset | AD |
GCK | diabetes mellitus, permanent neonatal | AD, AR |
GCK | hyperinsulinemic hypoglycemia, familial, 3 | AD |
GCK | mody, type ii | AD |
GLUD1 | hyperinsulinism-hyperammonemia syndrome | AD |
HADH | 3-hydroxyacyl-coa dehydrogenase deficiency | AR |
HADH | hyperinsulinemic hypoglycemia, familial, 4 | AR |
HK1 | hemolytic anemia due to hexokinase deficiency | AR |
HK1 | neurodevelopmental disorder with visual defects and brain anomalies | AD |
HK1 | neuropathy, hereditary motor and sensory, russe type | AR |
HK1 | retinitis pigmentosa 79 | AD |
HNF1A | {diabetes mellitus, insulin-dependent} | AR |
HNF1A | {diabetes mellitus, noninsulin-dependent, 2} | AD |
HNF1A | diabetes mellitus, insulin-dependent, 20 | |
HNF1A | hepatic adenoma, somatic | |
HNF1A | mody, type iii | AD |
HNF1A | renal cell carcinoma | |
HNF4A | {diabetes mellitus, noninsulin-dependent} | AD |
HNF4A | fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
HNF4A | mody, type i | AD |
INS | diabetes mellitus, insulin-dependent, 2 | AD |
INS | diabetes mellitus, permanent neonatal | AD, AR |
INS | hyperproinsulinemia | AD |
INS | maturity-onset diabetes of the young, type 10 | AD |
INSR | diabetes mellitus, insulin-resistant, with acanthosis nigricans | |
INSR | hyperinsulinemic hypoglycemia, familial, 5 | AD |
INSR | leprechaunism | AR |
INSR | rabson-mendenhall syndrome | AR |
KCNJ11 | {diabetes mellitus, type 2, susceptibility to} | AD |
KCNJ11 | diabetes mellitus, transient neonatal, 3 | AD |
KCNJ11 | diabetes, permanent neonatal, with or without neurologic features | AD, AR |
KCNJ11 | hyperinsulinemic hypoglycemia, familial, 2 | AR |
KCNJ11 | maturity-onset diabetes of the young, type 13 | AD |
MPI | congenital disorder of glycosylation, type ib | AR |
PDX1 | {diabetes mellitus, type ii, susceptibility to} | AD |
PDX1 | mody, type iv | |
PDX1 | pancreatic agenesis 1 | AR |
PGM1 | congenital disorder of glycosylation, type it | AR |
PMM2 | congenital disorder of glycosylation, type ia | AR |
SLC16A1 | erythrocyte lactate transporter defect | AD |
SLC16A1 | hyperinsulinemic hypoglycemia, familial, 7 | AD |
SLC16A1 | monocarboxylate transporter 1 deficiency | AD, AR |
UCP2 | {obesity, susceptibility to, bmiq4} | |
USH1C | deafness, autosomal recessive 18a | AR |
USH1C | usher syndrome, type 1c | AR |
Title | Phenotype | Inheritance |
---|---|---|
ALAD | {lead poisoning, susceptibility to} | AR |
ALAD | porphyria, acute hepatic | AR |
ALAS2 | anemia, sideroblastic, 1 | XLR |
ALAS2 | protoporphyria, erythropoietic, x-linked | XL |
C15orf41 | ||
CPOX | coproporphyria | AD |
CPOX | harderoporphyria | AD |
FECH | protoporphyria, erythropoietic, 1 | AR |
HFE | [transferrin serum level qtl2] | |
HFE | {alzheimer disease, susceptibility to} | AD |
HFE | {microvascular complications of diabetes 7} | |
HFE | {porphyria cutanea tarda, susceptibility to} | AD, AR |
HFE | {porphyria variegata, susceptibility to} | AD |
HFE | hemochromatosis | AR |
HMBS | porphyria, acute intermittent | AD |
HMBS | porphyria, acute intermittent, nonerythroid variant | AD |
PPOX | porphyria variegata | AD |
SLC19A2 | thiamine-responsive megaloblastic anemia syndrome | AR |
UROD | porphyria cutanea tarda | AD, AR |
UROD | porphyria, hepatoerythropoietic | AD, AR |
UROS | porphyria, congenital erythropoietic | AR |
Title | Phenotype | Inheritance |
---|---|---|
ABCD1 | adrenoleukodystrophy | XLR |
ABCD1 | adrenomyeloneuropathy, adult | XLR |
ABCD3 | ?bile acid synthesis defect, congenital, 5 | AR |
ACOX1 | peroxisomal acyl-coa oxidase deficiency | AR |
AGPS | rhizomelic chondrodysplasia punctata, type 3 | AR |
AGXT | hyperoxaluria, primary, type 1 | AR |
AMACR | alpha-methylacyl-coa racemase deficiency | AR |
AMACR | bile acid synthesis defect, congenital, 4 | AR |
DYM | dyggve-melchior-clausen disease | AR |
DYM | smith-mccort dysplasia | AR |
EBP | chondrodysplasia punctata, x-linked dominant | XLD |
EBP | mend syndrome | XLR |
GNPAT | rhizomelic chondrodysplasia punctata, type 2 | AR |
HSD17B4 | d-bifunctional protein deficiency | AR |
HSD17B4 | perrault syndrome 1 | AR |
PEX1 | heimler syndrome 1 | AR |
PEX1 | peroxisome biogenesis disorder 1a (zellweger) | AR |
PEX1 | peroxisome biogenesis disorder 1b (nald/ird) | AR |
PEX10 | peroxisome biogenesis disorder 6a (zellweger) | AR |
PEX10 | peroxisome biogenesis disorder 6b | AR |
PEX11B | ||
PEX12 | peroxisome biogenesis disorder 3a (zellweger) | AR |
PEX12 | peroxisome biogenesis disorder 3b | AR |
PEX13 | peroxisome biogenesis disorder 11a (zellweger) | AR |
PEX13 | peroxisome biogenesis disorder 11b | AR |
PEX14 | peroxisome biogenesis disorder 13a (zellweger) | AR |
PEX16 | peroxisome biogenesis disorder 8a (zellweger) | AR |
PEX16 | peroxisome biogenesis disorder 8b | AR |
PEX19 | peroxisome biogenesis disorder 12a (zellweger) | AR |
PEX2 | peroxisome biogenesis disorder 5a (zellweger) | AR |
PEX2 | peroxisome biogenesis disorder 5b | AR |
PEX26 | peroxisome biogenesis disorder 7a (zellweger) | AR |
PEX26 | peroxisome biogenesis disorder 7b | AR |
PEX3 | ?peroxisome biogenesis disorder 10b | AR |
PEX3 | peroxisome biogenesis disorder 10a (zellweger) | AR |
PEX5 | peroxisome biogenesis disorder 2a (zellweger) | AR |
PEX5 | peroxisome biogenesis disorder 2b | AR |
PEX5 | rhizomelic chondrodysplasia punctata, type 5 | AR |
PEX6 | heimler syndrome 2 | AR |
PEX6 | peroxisome biogenesis disorder 4a (zellweger) | AR |
PEX6 | peroxisome biogenesis disorder 4b | AD, AR |
PEX7 | peroxisome biogenesis disorder 9b | AR |
PEX7 | rhizomelic chondrodysplasia punctata, type 1 | AR |
PHYH | refsum disease | AR |
SUGCT | glutaric aciduria iii | AR |
TRIM37 | mulibrey nanism | AR |
Title | Phenotype | Inheritance |
---|---|---|
ACAT1 | alpha-methylacetoacetic aciduria | AR |
ACAT2 | ?acat2 deficiency | IC |
HMGCL | hmg-coa lyase deficiency | AR |
HMGCS2 | hmg-coa synthase-2 deficiency | AR |
OXCT1 | succinyl coa:3-oxoacid coa transferase deficiency |
Title | Phenotype | Inheritance |
---|---|---|
ALDOB | fructose intolerance, hereditary | AR |
GALE | galactose epimerase deficiency | AR |
GALK1 | galactokinase deficiency with cataracts | AR |
GALT | galactosemia | AR |
Title | Phenotype | Inheritance |
---|---|---|
GAMT | cerebral creatine deficiency syndrome 2 | AR |
GATM | cerebral creatine deficiency syndrome 3 | AR |
SLC6A8 | cerebral creatine deficiency syndrome 1 | XLR |
Title | Phenotype | Inheritance |
---|---|---|
FAH | tyrosinemia, type i | AR |
GSTZ1 | [maleylacetoacetate isomerase deficiency] | AR |
HPD | hawkinsinuria | AD |
HPD | tyrosinemia, type iii | AR |
TAT | tyrosinemia, type ii | AR |
Title | Phenotype | Inheritance |
---|---|---|
FAH | tyrosinemia, type i | AR |
GSTZ1 | [maleylacetoacetate isomerase deficiency] | AR |
HPD | hawkinsinuria | AD |
HPD | tyrosinemia, type iii | AR |
TAT | tyrosinemia, type ii | AR |
Gene | Phenotype | Inheritance |
ABCD4 | methylmalonic aciduria and homocystinuria, cblj type | AR |
ACSF3 | combined malonic and methylmalonic aciduria | |
ADK | hypermethioninemia due to adenosine kinase deficiency | AR |
AHCY | hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase | AR |
ALDH6A1 | methylmalonate semialdehyde dehydrogenase deficiency | AR |
AMN | megaloblastic anemia-1, norwegian type | AR |
CBS | homocystinuria, b6-responsive and nonresponsive types | AR |
CBS | thrombosis, hyperhomocysteinemic | AR |
CD320 | methylmalonic aciduria, transient, due to transcobalamin receptor defect | |
CUBN | megaloblastic anemia-1, finnish type | AR |
DHFR | megaloblastic anemia due to dihydrofolate reductase deficiency | AR |
FOLR1 | neurodegeneration due to cerebral folate transport deficiency | AR |
FTCD | glutamate formiminotransferase deficiency | AR |
GIF | intrinsic factor deficiency | AR |
GNMT | glycine n-methyltransferase deficiency | AR |
HCFC1 | mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) | XLR |
HIBCH | 3-hydroxyisobutryl-coa hydrolase deficiency | AR |
LMBRD1 | methylmalonic aciduria and homocystinuria, cblf type | AR |
MAT1A | hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency | AD, AR |
MAT1A | methionine adenosyltransferase deficiency, autosomal recessive | AD, AR |
MCEE | methylmalonyl-coa epimerase deficiency | AR |
MLYCD | malonyl-coa decarboxylase deficiency | AR |
MMAA | methylmalonic aciduria, vitamin b12-responsive | AR |
MMAB | methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type | AR |
MMACHC | methylmalonic aciduria and homocystinuria, cblc type | AR |
MMADHC | homocystinuria, cbld type, variant 1 | AR |
MMADHC | methylmalonic aciduria and homocystinuria, cbld type | AR |
MMADHC | methylmalonic aciduria, cbld type, variant 2 | AR |
MMUT | ||
MTHFD1 | {neural tube defects, folate-sensitive, susceptibility to} | AR |
MTHFD1 | combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | AR |
MTHFR | {neural tube defects, susceptibility to} | AR |
MTHFR | {schizophrenia, susceptibility to} | AD |
MTHFR | {thromboembolism, susceptibility to} | AD |
MTHFR | {vascular disease, susceptibility to} | |
MTHFR | homocystinuria due to mthfr deficiency | AR |
MTR | {neural tube defects, folate-sensitive, susceptibility to} | AR |
MTR | homocystinuria-megaloblastic anemia, cblg complementation type | AR |
MTRR | {neural tube defects, folate-sensitive, susceptibility to} | AR |
MTRR | homocystinuria-megaloblastic anemia, cbl e type | AR |
PCCA | propionicacidemia | AR |
PCCB | propionicacidemia | AR |
PRDX1 | methylmalonic aciduria and homocystinuria, cblc type, digenic | AR |
SLC46A1 | folate malabsorption, hereditary | AR |
SUCLA2 | mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
SUCLG1 | mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
TCN1 | ||
TCN2 | transcobalamin ii deficiency | AR |
THAP11 | ||
ZNF143 |
Title | Phenotype | Inheritance |
---|---|---|
AARS2 | combined oxidative phosphorylation deficiency 8 | AR |
AARS2 | leukoencephalopathy, progressive, with ovarian failure | AR |
ABCB7 | anemia, sideroblastic, with ataxia | XLR |
ABCB8 | ||
ABHD5 | chanarin-dorfman syndrome | AR |
ACAD9 | mitochondrial complex i deficiency, nuclear type 20 | AR |
ACADS | acyl-coa dehydrogenase, short-chain, deficiency of | AR |
AFG3L2 | spastic ataxia 5, autosomal recessive | AR |
AFG3L2 | spinocerebellar ataxia 28 | AD |
AGK | cataract 38, autosomal recessive | AR |
AGK | sengers syndrome | AR |
AIFM1 | combined oxidative phosphorylation deficiency 6 | XLR |
AIFM1 | cowchock syndrome | XLR |
AIFM1 | deafness, x-linked 5 | XLR |
AIFM1 | spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy | XLR |
AK2 | reticular dysgenesis | AR |
AK3 | ||
APOPT1 | mitochondrial complex iv deficiency | AR, Mi |
APTX | ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARMS2 | {macular degeneration, age-related, 8} | |
ARX | epileptic encephalopathy, early infantile, 1 | XLR |
ARX | hydranencephaly with abnormal genitalia | XL |
ARX | lissencephaly, x-linked 2 | XL |
ARX | mental retardation, x-linked 29 and others | XLR |
ARX | partington syndrome | XLR |
ARX | proud syndrome | XL |
ATAD3B | ||
ATP5F1A | ?combined oxidative phosphorylation deficiency 22 | AR |
ATP5F1A | ?mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | AR |
ATP5F1B | ||
ATP5F1E | ?mitochondrial complex v (atp synthase) deficiency, nuclear type 3 | |
ATP7B | wilson disease | AR |
ATPAF2 | ?mitochondrial complex v (atp synthase) deficiency, nuclear type 1 | AR |
BCS1L | bjornstad syndrome | AR |
BCS1L | gracile syndrome | AR |
BCS1L | leigh syndrome | AR, Mi |
BCS1L | mitochondrial complex iii deficiency, nuclear type 1 | AR |
BOLA3 | multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR |
C12orf65 | ||
CA5A | hyperammonemia due to carbonic anhydrase va deficiency | AR |
CARS2 | combined oxidative phosphorylation deficiency 27 | AR |
CCT7 | ||
CHCHD10 | ?myopathy, isolated mitochondrial, autosomal dominant | AD |
CHCHD10 | frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD |
CHCHD10 | spinal muscular atrophy, jokela type | AD |
CISD2 | wolfram syndrome 2 | AR |
CKMT1B | ||
CLPP | perrault syndrome 3 | AR |
COA5 | ?cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | AR |
COQ2 | {multiple system atrophy, susceptibility to} | AD, AR |
COQ2 | coenzyme q10 deficiency, primary, 1 | AR |
COQ4 | coenzyme q10 deficiency, primary, 7 | AR |
COQ6 | coenzyme q10 deficiency, primary, 6 | AR |
COQ7 | ?coenzyme q10 deficiency, primary, 8 | AR |
COQ8A | coenzyme q10 deficiency, primary, 4 | AR |
COQ9 | coenzyme q10 deficiency, primary, 5 | AR |
COX10 | leigh syndrome due to mitochondrial cox4 deficiency | AR, Mi |
COX10 | mitochondrial complex iv deficiency | AR, Mi |
COX14 | ?mitochondrial complex iv deficiency | AR, Mi |
COX15 | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | AR |
COX15 | leigh syndrome due to cytochrome c oxidase deficiency | AR, Mi |
COX20 | mitochondrial complex iv deficiency | AR, Mi |
COX4I1 | ||
COX4I2 | exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | AR |
COX6A1 | charcot-marie-tooth disease, recessive intermediate d | AR |
COX6B1 | mitochondrial complex iv deficiency | AR, Mi |
COX7A1 | ||
COX7B | linear skin defects with multiple congenital anomalies 2 | XLD |
COX8A | ?mitochondrial complex iv deficiency | AR, Mi |
CYC1 | mitochondrial complex iii deficiency, nuclear type 6 | AR |
CYCS | thrombocytopenia 4 | AD |
DARS | ||
DARS2 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DGUOK | mitochondrial dna depletion syndrome 3 (hepatocerebral type) | AR |
DGUOK | portal hypertension, noncirrhotic | AR |
DGUOK | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 | AR |
DHTKD1 | ?charcot-marie-tooth disease, axonal, type 2q | AD |
DHTKD1 | 2-aminoadipic 2-oxoadipic aciduria | AR |
DNA2 | ?seckel syndrome 8 | AR |
DNA2 | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 | AD |
DNAJC19 | 3-methylglutaconic aciduria, type v | AR |
DNM1L | encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | AD, AR |
DNM1L | optic atrophy 5 | AD |
EARS2 | combined oxidative phosphorylation deficiency 12 | AR |
ECSIT | ||
ETHE1 | ethylmalonic encephalopathy | AR |
FARS2 | combined oxidative phosphorylation deficiency 14 | AR |
FARS2 | spastic paraplegia 77, autosomal recessive | AR |
FASTKD2 | ?mitochondrial complex iv deficiency | AR, Mi |
FBXL4 | mitochondrial dna depletion syndrome 13 (encephalomyopathic type) | AR |
FDPS | porokeratosis 9, multiple types | AD |
FOXRED1 | mitochondrial complex i deficiency, nuclear type 19 | AR |
FXN | friedreich ataxia | AR |
FXN | friedreich ataxia with retained reflexes | AR |
GARS | ||
GATD3A | ||
GFER | myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | |
GFM1 | combined oxidative phosphorylation deficiency 1 | AR |
GFM2 | combined oxidative phosphorylation deficiency 39 | AR |
GTPBP3 | combined oxidative phosphorylation deficiency 23 | AR |
HARS2 | ?perrault syndrome 2 | AR |
HCCS | linear skin defects with multiple congenital anomalies 1 | XLD |
HOGA1 | hyperoxaluria, primary, type iii | AR |
HSPA9 | anemia, sideroblastic, 4 | AD |
HSPA9 | even-plus syndrome | AR |
HSPD1 | leukodystrophy, hypomyelinating, 4 | AR |
HSPD1 | spastic paraplegia 13, autosomal dominant | AD |
HSPE1 | ||
IARS2 | ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | AR |
IBA57 | ?spastic paraplegia 74, autosomal recessive | AR |
IBA57 | multiple mitochondrial dysfunctions syndrome 3 | AR |
IMMT | ||
ISCU | myopathy with lactic acidosis, hereditary | AR |
KARS | ||
KIF1B | ?charcot-marie-tooth disease, type 2a1 | AD |
KIF1B | {neuroblastoma, susceptibility to, 1} | AD, SMu |
KIF1B | pheochromocytoma | AD |
LARS2 | ?hydrops, lactic acidosis, and sideroblastic anemia | AR |
LARS2 | perrault syndrome 4 | AR |
LRPPRC | leigh syndrome, french-canadian type | AR |
LYRM4 | ?combined oxidative phosphorylation deficiency 19 | AR |
LYRM7 | mitochondrial complex iii deficiency, nuclear type 8 | AR |
MARS | ||
MARS2 | ?combined oxidative phosphorylation deficiency 25 | AR |
MARS2 | spastic ataxia 3, autosomal recessive | AR |
MFN2 | charcot-marie-tooth disease, axonal, type 2a2a | AD |
MFN2 | charcot-marie-tooth disease, axonal, type 2a2b | AR |
MFN2 | hereditary motor and sensory neuropathy via | AD |
MGME1 | mitochondrial dna depletion syndrome 11 | AR |
MPC1 | mitochondrial pyruvate carrier deficiency | AR |
MPV17 | charcot-marie-tooth disease, axonal, type 2ee | AR |
MPV17 | mitochondrial dna depletion syndrome 6 (hepatocerebral type) | AR |
MRPL15 | ||
MRPL19 | ||
MRPL3 | combined oxidative phosphorylation deficiency 9 | AR |
MRPL43 | ||
MRPL44 | ?combined oxidative phosphorylation deficiency 16 | AR |
MRPL57 | ||
MRPS12 | ||
MRPS16 | combined oxidative phosphorylation deficiency 2 | AR |
MRPS17 | ||
MRPS18A | ||
MRPS22 | combined oxidative phosphorylation deficiency 5 | AR |
MRPS22 | ovarian dysgenesis 7 | AR |
MRRF | ||
MTCH2 | ||
MTFMT | combined oxidative phosphorylation deficiency 15 | AR |
MTFMT | mitochondrial complex i deficiency, nuclear type 27 | AR |
MTO1 | combined oxidative phosphorylation deficiency 10 | AR |
MTPAP | ?spastic ataxia 4, autosomal recessive | AR |
NARS2 | ?deafness, autosomal recessive 94 | AR |
NARS2 | combined oxidative phosphorylation deficiency 24 | AR |
NDUFA1 | mitochondrial complex i deficiency, nuclear type 12 | XLR |
NDUFA10 | mitochondrial complex i deficiency, nuclear type 22 | AR |
NDUFA11 | mitochondrial complex i deficiency, nuclear type 14 | AR |
NDUFA12 | ?mitochondrial complex i deficiency, nuclear type 23 | AR |
NDUFA13 | ?mitochondrial complex i deficiency, nuclear type 28 | AR |
NDUFA13 | {thyroid carcinoma, hurthle cell} | |
NDUFA2 | ?mitochondrial complex i deficiency, nuclear type 13 | AR |
NDUFA4 | ||
NDUFA6 | mitochondrial complex i deficiency, nuclear type 33 | AR |
NDUFA7 | ||
NDUFA8 | ||
NDUFA9 | mitochondrial complex i deficiency, nuclear type 26 | AR |
NDUFAF1 | mitochondrial complex i deficiency, nuclear type 11 | AR |
NDUFAF2 | mitochondrial complex i deficiency, nuclear type 10 | AR |
NDUFAF3 | mitochondrial complex i deficiency, nuclear type 18 | AR |
NDUFAF4 | mitochondrial complex i deficiency, nuclear type 15 | AR |
NDUFAF5 | mitochondrial complex i deficiency, nuclear type 16 | AR |
NDUFAF6 | mitochondrial complex i deficiency, nuclear type 17 | AR |
NDUFB1 | ||
NDUFB11 | ?mitochondrial complex i deficiency, nuclear type 30 | XL |
NDUFB11 | linear skin defects with multiple congenital anomalies 3 | XLD |
NDUFB3 | mitochondrial complex i deficiency, nuclear type 25 | AR |
NDUFB6 | ||
NDUFB8 | mitochondrial complex i deficiency, nuclear type 32 | AR |
NDUFB9 | ?mitochondrial complex i deficiency, nuclear type 24 | AR |
NDUFC2 | ||
NDUFS1 | mitochondrial complex i deficiency, nuclear type 5 | AR |
NDUFS2 | mitochondrial complex i deficiency, nuclear type 6 | AR |
NDUFS3 | mitochondrial complex i deficiency, nuclear type 8 | AR |
NDUFS4 | mitochondrial complex i deficiency, nuclear type 1 | AR |
NDUFS5 | ||
NDUFS6 | mitochondrial complex i deficiency, nuclear type 9 | AR |
NDUFS7 | mitochondrial complex i deficiency, nuclear type 3 | AR |
NDUFS8 | mitochondrial complex i deficiency, nuclear type 2 | AR |
NDUFV1 | mitochondrial complex i deficiency, nuclear type 4 | AR |
NDUFV2 | mitochondrial complex i deficiency, nuclear type 7 | AR |
NDUFV3 | ||
NFU1 | multiple mitochondrial dysfunctions syndrome 1 | AR |
NLRX1 | ||
NNT | glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | AR |
NUBPL | mitochondrial complex i deficiency, nuclear type 21 | AR |
OPA1 | ?mitochondrial dna depletion syndrome 14 (encephalocardiomyopathic type) | |
OPA1 | {glaucoma, normal tension, susceptibility to} | |
OPA1 | behr syndrome | AR |
OPA1 | optic atrophy 1 | AD |
OPA1 | optic atrophy plus syndrome | AD |
OPA3 | 3-methylglutaconic aciduria, type iii | AR |
OPA3 | optic atrophy 3 with cataract | AD |
PANK2 | harp syndrome | AR |
PANK2 | neurodegeneration with brain iron accumulation 1 | AR |
PDSS1 | coenzyme q10 deficiency, primary, 2 | AR |
PDSS2 | coenzyme q10 deficiency, primary, 3 | AR |
PNPT1 | combined oxidative phosphorylation deficiency 13 | AR |
PNPT1 | deafness, autosomal recessive 70 | AR |
POLG | mitochondrial dna depletion syndrome 4a (alpers type) | AR |
POLG | mitochondrial dna depletion syndrome 4b (mngie type) | AR |
POLG | mitochondrial recessive ataxia syndrome (includes sando and scae) | AR |
POLG | progressive external ophthalmoplegia, autosomal dominant 1 | AD |
POLG | progressive external ophthalmoplegia, autosomal recessive 1 | AR |
POLG2 | mitochondrial dna depletion syndrome 16 (hepatic type) | AR |
POLG2 | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 | AD |
PUS1 | myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
RARS | ||
RARS2 | pontocerebellar hypoplasia, type 6 | AR |
RMND1 | combined oxidative phosphorylation deficiency 11 | AR |
RMRP | anauxetic dysplasia 1 | AR |
RMRP | cartilage-hair hypoplasia | AR |
RMRP | metaphyseal dysplasia without hypotrichosis | AR |
RPL35A | diamond-blackfan anemia 5 | AD |
RPS14 | macrocytic anemia, refractory, due to 5q deletion, somatic | |
RRM2B | mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) | AR |
RRM2B | mitochondrial dna depletion syndrome 8b (mngie type) | AR |
RRM2B | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 | AD |
RYR1 | {malignant hyperthermia susceptibility 1} | AD |
RYR1 | central core disease | AD, AR |
RYR1 | king-denborough syndrome | AD |
RYR1 | minicore myopathy with external ophthalmoplegia | AR |
RYR1 | neuromuscular disease, congenital, with uniform type 1 fiber | AD, AR |
SARS2 | hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
SCO1 | mitochondrial complex iv deficiency | AR, Mi |
SCO2 | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | AR |
SCO2 | myopia 6 | AD |
SDHA | cardiomyopathy, dilated, 1gg | |
SDHA | leigh syndrome | AR, Mi |
SDHA | mitochondrial respiratory chain complex ii deficiency | AR |
SDHA | paragangliomas 5 | AD |
SDHAF1 | mitochondrial complex ii deficiency | AR |
SDHAF2 | paragangliomas 2 | AD |
SDHB | gastrointestinal stromal tumor | AD, IC |
SDHB | paraganglioma and gastric stromal sarcoma | |
SDHB | paragangliomas 4 | AD |
SDHB | pheochromocytoma | AD |
SDHC | gastrointestinal stromal tumor | AD, IC |
SDHC | paraganglioma and gastric stromal sarcoma | |
SDHC | paragangliomas 3 | AD |
SDHD | mitochondrial complex ii deficiency | AR |
SDHD | paraganglioma and gastric stromal sarcoma | |
SDHD | paragangliomas 1, with or without deafness | AD |
SDHD | pheochromocytoma | AD |
SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | AR |
SHMT2 | ||
SIRT3 | ||
SLC16A1 | erythrocyte lactate transporter defect | AD |
SLC16A1 | hyperinsulinemic hypoglycemia, familial, 7 | AD |
SLC16A1 | monocarboxylate transporter 1 deficiency | AD, AR |
SLC19A3 | thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
SLC25A1 | ?myasthenic syndrome, congenital, 23, presynaptic | AR |
SLC25A1 | combined d-2- and l-2-hydroxyglutaric aciduria | AR |
SLC25A12 | epileptic encephalopathy, early infantile, 39 | AR |
SLC25A16 | ||
SLC25A19 | microcephaly, amish type | AR |
SLC25A19 | thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
SLC25A21 | ||
SLC25A22 | epileptic encephalopathy, early infantile, 3 | AR |
SLC25A3 | mitochondrial phosphate carrier deficiency | |
SLC25A32 | ?exercise intolerance, riboflavin-responsive | AR |
SLC25A35 | ||
SLC25A38 | anemia, sideroblastic, 2, pyridoxine-refractory | AR |
SLC25A4 | mitochondrial dna depletion syndrome 12a (cardiomyopathic type) ad | AD |
SLC25A4 | mitochondrial dna depletion syndrome 12b (cardiomyopathic type) ar | AR |
SLC25A4 | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 | AD |
SLC25A42 | metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | AR |
SLC25A5 | ||
SLC25A6 | ||
SLC5A8 | ||
SOD2 | {microvascular complications of diabetes 6} | |
SPG7 | spastic paraplegia 7, autosomal recessive | AD, AR |
SUCLG1 | mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
SURF1 | charcot-marie-tooth disease, type 4k | AR |
SURF1 | leigh syndrome, due to cox iv deficiency | AR, Mi |
TACO1 | mitochondrial complex iv deficiency | AR, Mi |
TARS2 | ?combined oxidative phosphorylation deficiency 21 | AR |
TAZ | barth syndrome | XLR |
TFAM | ?mitochondrial dna depletion syndrome 15 (hepatocerebral type) | AR |
TFB1M | ||
TIMM13 | ||
TIMM44 | ||
TIMM50 | 3-methylglutaconic aciduria, type ix | AR |
TIMM8A | mohr-tranebjaerg syndrome | XLR |
TIMM9 | ||
TK2 | ?progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 | AR |
TK2 | mitochondrial dna depletion syndrome 2 (myopathic type) | AR |
TKT | short stature, developmental delay, and congenital heart defects | AR |
TMEM126A | optic atrophy 7 | AR |
TMEM70 | mitochondrial complex v (atp synthase) deficiency, nuclear type 2 | AR |
TOP1MT | ||
TRMU | {deafness, mitochondrial, modifier of} | Mi |
TRMU | liver failure, transient infantile | AR |
TRNT1 | retinitis pigmentosa and erythrocytic microcytosis | AR |
TRNT1 | sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay | AR |
TSFM | combined oxidative phosphorylation deficiency 3 | AR |
TSPO | ||
TTC19 | mitochondrial complex iii deficiency, nuclear type 2 | AR |
TUFM | combined oxidative phosphorylation deficiency 4 | AR |
TWNK | mitochondrial dna depletion syndrome 7 (hepatocerebral type) | AR |
TWNK | perrault syndrome 5 | AR |
TWNK | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 | AD |
TYMP | mitochondrial dna depletion syndrome 1 (mngie type) | AR |
UCP1 | ||
UCP2 | {obesity, susceptibility to, bmiq4} | |
UCP3 | {obesity, severe, and type ii diabetes} | AD, AR, Mu |
UNG | immunodeficiency with hyper igm, type 5 | AR |
UQCC2 | mitochondrial complex iii deficiency, nuclear type 7 | AR |
UQCRB | mitochondrial complex iii deficiency, nuclear type 3 | AR |
UQCRC2 | mitochondrial complex iii deficiency, nuclear type 5 | AR |
UQCRQ | mitochondrial complex iii deficiency, nuclear type 4 | AR |
VARS2 | combined oxidative phosphorylation deficiency 20 | AR |
WARS2 | neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | AR |
YARS2 | myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
Pyruvate Metabolism Disorders NGS Panel
Title | Phenotype | Inheritance |
---|---|---|
BTD | biotinidase deficiency | AR |
DLAT | pyruvate dehydrogenase e2 deficiency | AR |
DLD | dihydrolipoamide dehydrogenase deficiency | AR |
HLCS | holocarboxylase synthetase deficiency | AR |
LDHB | [lactate dehydrogenase-b deficiency] | |
LIAS | hyperglycinemia, lactic acidosis, and seizures | AR |
LIPT1 | lipoyltransferase 1 deficiency | AR |
PC | pyruvate carboxylase deficiency | AR |
PDHA1 | pyruvate dehydrogenase e1-alpha deficiency | XLD |
PDHB | pyruvate dehydrogenase e1-beta deficiency | |
PDHX | lacticacidemia due to pdx1 deficiency | AR |
PDK3 | ?charcot-marie-tooth disease, x-linked dominant, 6 | XLD |
PDP1 | pyruvate dehydrogenase phosphatase deficiency | AR |
SLC19A3 | thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
Title | Phenotype | Inheritance |
---|---|---|
ABCC8 | diabetes mellitus, noninsulin-dependent | AD |
ABCC8 | diabetes mellitus, permanent neonatal | AD, AR |
ABCC8 | diabetes mellitus, transient neonatal 2 | |
ABCC8 | hyperinsulinemic hypoglycemia, familial, 1 | AD, AR |
ABCC8 | hypoglycemia of infancy, leucine-sensitive | AD |
ADRB2 | {asthma, nocturnal, susceptibility to} | AD |
ADRB2 | {obesity, susceptibility to} | AD, AR, Mu |
ADRB2 | beta-2-adrenoreceptor agonist, reduced response to | |
ADRB3 | {obesity, susceptibility to} | AD, AR, Mu |
AGRP | {leanness, inherited} | AD, AR, Mu |
AGRP | {obesity, late-onset} | AD, AR, Mu |
ALMS1 | alstrom syndrome | AR |
ARL6 | ?retinitis pigmentosa 55 | |
ARL6 | {bardet-biedl syndrome 1, modifier of} | AR, DR |
ARL6 | bardet-biedl syndrome 3 | AR |
BBS1 | bardet-biedl syndrome 1 | AR, DR |
BBS10 | bardet-biedl syndrome 10 | AR |
BBS12 | bardet-biedl syndrome 12 | AR |
BBS2 | bardet-biedl syndrome 2 | AR |
BBS2 | retinitis pigmentosa 74 | AR |
BBS4 | bardet-biedl syndrome 4 | AR |
BBS5 | bardet-biedl syndrome 5 | AR |
BBS7 | bardet-biedl syndrome 7 | AR |
BBS9 | ||
BDNF | ||
CARTPT | {?obesity, susceptibility to} | AD, AR, Mu |
CEL | maturity-onset diabetes of the young, type viii | AD |
CEP290 | ?bardet-biedl syndrome 14 | AR |
CEP290 | joubert syndrome 5 | AR |
CEP290 | leber congenital amaurosis 10 | |
CEP290 | meckel syndrome 4 | AR |
CEP290 | senior-loken syndrome 6 | AR |
EIF2AK3 | wolcott-rallison syndrome | AR |
ENPP1 | {diabetes mellitus, non-insulin-dependent, susceptibility to} | AD |
ENPP1 | {obesity, susceptibility to} | AD, AR, Mu |
ENPP1 | arterial calcification, generalized, of infancy, 1 | AR |
ENPP1 | cole disease | AD |
ENPP1 | hypophosphatemic rickets, autosomal recessive, 2 | AR |
FOXP3 | immunodysregulation, polyendocrinopathy, and enteropathy, x-linked | XLR |
GCK | diabetes mellitus, noninsulin-dependent, late onset | AD |
GCK | diabetes mellitus, permanent neonatal | AD, AR |
GCK | hyperinsulinemic hypoglycemia, familial, 3 | AD |
GCK | mody, type ii | AD |
GHRL | {obesity, susceptibility to} | AD, AR, Mu |
GLIS3 | diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
GNAS | acth-independent macronodular adrenal hyperplasia | SMu |
GNAS | mccune-albright syndrome, somatic, mosaic | |
GNAS | osseous heteroplasia, progressive | AD |
GNAS | pituitary adenoma 3, multiple types, somatic | |
GNAS | pseudohypoparathyroidism ia | AD |
GNAS | pseudohypoparathyroidism ib | AD |
GNAS | pseudohypoparathyroidism ic | AD |
GNAS | pseudopseudohypoparathyroidism | AD |
HNF1A | {diabetes mellitus, insulin-dependent} | AR |
HNF1A | {diabetes mellitus, noninsulin-dependent, 2} | AD |
HNF1A | diabetes mellitus, insulin-dependent, 20 | |
HNF1A | hepatic adenoma, somatic | |
HNF1A | mody, type iii | AD |
HNF1A | renal cell carcinoma | |
HNF1B | {renal cell carcinoma} | |
HNF1B | diabetes mellitus, noninsulin-dependent | AD |
HNF1B | renal cysts and diabetes syndrome | AD |
HNF4A | {diabetes mellitus, noninsulin-dependent} | AD |
HNF4A | fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
HNF4A | mody, type i | AD |
INS | diabetes mellitus, insulin-dependent, 2 | AD |
INS | diabetes mellitus, permanent neonatal | AD, AR |
INS | hyperproinsulinemia | AD |
INS | maturity-onset diabetes of the young, type 10 | AD |
KCNJ11 | {diabetes mellitus, type 2, susceptibility to} | AD |
KCNJ11 | diabetes mellitus, transient neonatal, 3 | AD |
KCNJ11 | diabetes, permanent neonatal, with or without neurologic features | AD, AR |
KCNJ11 | hyperinsulinemic hypoglycemia, familial, 2 | AR |
KCNJ11 | maturity-onset diabetes of the young, type 13 | AD |
LEP | obesity, morbid, due to leptin deficiency | AR |
LEPR | obesity, morbid, due to leptin receptor deficiency | AR |
MAGEL2 | schaaf-yang syndrome | AD |
MC4R | {obesity, resistence to (bmiq20)} | |
MC4R | obesity (bmiq20) | AD, AR |
MKKS | bardet-biedl syndrome 6 | AR |
MKKS | mckusick-kaufman syndrome | AR |
MKS1 | bardet-biedl syndrome 13 | AR |
MKS1 | joubert syndrome 28 | AR |
MKS1 | meckel syndrome 1 | AR |
NEUROD1 | {diabetes mellitus, noninsulin-dependent} | AD |
NEUROD1 | maturity-onset diabetes of the young 6 | |
NEUROG3 | diarrhea 4, malabsorptive, congenital | AR |
NTRK2 | epileptic encephalopathy, early infantile, 58 | AD |
NTRK2 | obesity, hyperphagia, and developmental delay | AD |
PCSK1 | {obesity, susceptibility to, bmiq12} | |
PCSK1 | obesity with impaired prohormone processing | AR |
PDX1 | {diabetes mellitus, type ii, susceptibility to} | AD |
PDX1 | mody, type iv | |
PDX1 | pancreatic agenesis 1 | AR |
POMC | {obesity, early-onset, susceptibility to} | AD, AR, Mu |
POMC | obesity, adrenal insufficiency, and red hair due to pomc deficiency | AR |
PPARG | [obesity, resistance to] | |
PPARG | {diabetes, type 2} | AD |
PPARG | carotid intimal medial thickness 1 | |
PPARG | insulin resistance, severe, digenic | AD |
PPARG | lipodystrophy, familial partial, type 3 | AD |
PPARG | obesity, severe | AD, AR, Mu |
PPARGC1B | ||
PTF1A | pancreatic agenesis 2 | AR |
PTF1A | pancreatic and cerebellar agenesis | AR |
PYY | ||
RFX6 | mitchell-riley syndrome | AR |
SDC3 | {obesity, association with} | AD, AR, Mu |
SDCCAG8 | bardet-biedl syndrome 16 | AR |
SDCCAG8 | senior-loken syndrome 7 | |
SIM1 | ||
TRIM32 | ?bardet-biedl syndrome 11 | AR |
TRIM32 | muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
TTC8 | ?retinitis pigmentosa 51 | AR |
TTC8 | bardet-biedl syndrome 8 | AR |
UCP1 | ||
UCP3 | {obesity, severe, and type ii diabetes} | AD, AR, Mu |
WDPCP | ?bardet-biedl syndrome 15 | AR |
WDPCP | ?congenital heart defects, hamartomas of tongue, and polysyndactyly | AR |
WFS1 | ?cataract 41 | AD |
WFS1 | {diabetes mellitus, noninsulin-dependent, association with} | AD |
WFS1 | deafness, autosomal dominant 6/14/38 | AD |
WFS1 | wolfram syndrome 1 | AR |
WFS1 | wolfram-like syndrome, autosomal dominant | AD |
Title | Phenotype | Inheritance |
---|---|---|
RPE65 | leber congenital amaurosis 2 | AR |
RPE65 | retinitis pigmentosa 20 | AR |
RPE65 | retinitis pigmentosa 87 with choroidal involvement | AD |
GUCY2D | ?choroidal dystrophy, central areolar 1 | AD |
GUCY2D | cone-rod dystrophy 6 | AD, AR |
GUCY2D | leber congenital amaurosis 1 | AR |
GUCY2D | night blindness, congenital stationary, type 1i | AR |
CRB1 | leber congenital amaurosis 8 | AR |
CRB1 | pigmented paravenous chorioretinal atrophy | AD |
CRB1 | retinitis pigmentosa-12 | AR |
LRAT | leber congenital amaurosis 14 | AR |
LRAT | retinal dystrophy, early-onset severe | AR |
LRAT | retinitis pigmentosa, juvenile | AR |
CEP290 | ?bardet-biedl syndrome 14 | AR |
CEP290 | joubert syndrome 5 | AR |
CEP290 | leber congenital amaurosis 10 | |
CEP290 | meckel syndrome 4 | AR |
CEP290 | senior-loken syndrome 6 | AR |
RS1 | retinoschisis | XLR |
GNAT2 | achromatopsia 4 | |
CNGA3 | achromatopsia 2 | AR |
PDE6C | cone dystrophy 4 | AR |
CNGB3 | achromatopsia 3 | AR |
CNGB3 | macular degeneration, juvenile | AR |
RPGR | cone-rod dystrophy, x-linked, 1 | XL |
RPGR | macular degeneration, x-linked atrophic | XLR |
RPGR | retinitis pigmentosa 3 | |
RPGR | retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness | |
ABCA4 | {macular degeneration, age-related, 2} | AD |
ABCA4 | cone-rod dystrophy 3 | |
ABCA4 | fundus flavimaculatus | AR |
ABCA4 | retinal dystrophy, early-onset severe | AR |
ABCA4 | retinitis pigmentosa 19 | AR |
ABCA4 | stargardt disease 1 | AR |
MYO7A | deafness, autosomal dominant 11 | AD |
MYO7A | deafness, autosomal recessive 2 | AR |
MYO7A | usher syndrome, type 1b | AR |
CHM | choroideremia | XLD |
ND4 (=MTND4,注意。粒線體基因,不在WES的定序範圍內) | LEBER OPTIC ATROPHY (mtDNA 11778 G>A | #N/A |
CNGA1 | retinitis pigmentosa 49 | |
RHO | night blindness, congenital stationary, autosomal dominant 1 | |
RHO | retinitis pigmentosa 4, autosomal dominant or recessive | AD, AR |
RHO | retinitis punctata albescens | AD, AR |
RPGR | cone-rod dystrophy, x-linked, 1 | XL |
RPGR | macular degeneration, x-linked atrophic | XLR |
RPGR | retinitis pigmentosa 3 | |
RPGR | retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness | |
CNGB1 | retinitis pigmentosa 45 | AR |
MERTK | retinitis pigmentosa 38 | AR |
PDE6b | Night blindness, congenital stationary, autosomal dominant 2 | AD |
PDE6b | Retinitis pigmentosa-40 | AR |
RP1L1 | occult macular dystrophy | AD |
OPA3 | 3-methylglutaconic aciduria, type iii | AR |
OPA3 | optic atrophy 3 with cataract | AD |
TMEM126A (OPA7) | Optic atrophy 7 | AR |
ROA1 | Optic atrophy 6 | AR |
OPA1 | ?mitochondrial dna depletion syndrome 14 (encephalocardiomyopathic type) | |
OPA1 | {glaucoma, normal tension, susceptibility to} | |
OPA1 | behr syndrome | AR |
OPA1 | optic atrophy 1 | AD |
OPA1 | optic atrophy plus syndrome | AD |
OPA4 | optic atrophy 1 | AD |
OPA4 | optic atrophy 10 with or without ataxia, mental retardation, and seizures | AR |
OPA4 | optic atrophy 6 | AR |
OPA4 | ?optic atrophy 11 | AR |
OPA4 | optic atrophy 7 | AR |
OPA4 | optic atrophy 5 | AD |
OPA4 | optic atrophy 8 | AD |
OPA4 | optic atrophy 4 | |
OPA4 | optic atrophy 3 with cataract | AD |
OPA4 | ?optic atrophy 9 | AR |
OPA4 | optic atrophy 2, x-linked | XL |
WFS1 | ?cataract 41 | AD |
WFS1 | {diabetes mellitus, noninsulin-dependent, association with} | AD |
WFS1 | deafness, autosomal dominant 6/14/38 | AD |
WFS1 | wolfram syndrome 1 | AR |
WFS1 | wolfram-like syndrome, autosomal dominant | AD |
CISD2 | wolfram syndrome 2 | AR |
mtDNA 11778 G>A (=MTND4) | mtDNA 11778 G>A Leber hereditary optic neuropathy (LHON) |
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