新生兒科
Surfactant Metabolism Dysfunction Panel
| Title | Phenotype | Inheritance |
|---|---|---|
| CSF2RB | surfactant metabolism dysfunction, pulmonary, 5 | AR |
| SFTPB | surfactant metabolism dysfunction, pulmonary, 1 | AR |
| SFTPC | surfactant metabolism dysfunction, pulmonary, 2 | AD |
| CSF2RA | surfactant metabolism dysfunction, pulmonary, 4 | |
| ABCA3 | surfactant metabolism dysfunction, pulmonary, 3 | AR |
| SFTPA1 | Respiratory Distress Syndrome Associated with Prematurity | #N/A |
| SFTPA1 | Idiopathic Pulmonary Fibrosis | #N/A |
| SFTPD | #N/A | #N/A |
| Title | Phenotype | Inheritance |
|---|---|---|
| CHRNA1 | multiple pterygium syndrome, lethal type | AR |
| CHRNA1 | myasthenic syndrome, congenital, 1a, slow-channel | AD |
| CHRNA1 | myasthenic syndrome, congenital, 1b, fast-channel | AD, AR |
| CHRNB1 | ?myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency | AR |
| CHRNB1 | myasthenic syndrome, congenital, 2a, slow-channel | AD |
| CHRND | ?myasthenic syndrome, congenital, 3a, slow-channel | AD |
| CHRND | ?myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | AR |
| CHRND | multiple pterygium syndrome, lethal type | AR |
| CHRND | myasthenic syndrome, congenital, 3b, fast-channel | AR |
| CHRNE | myasthenic syndrome, congenital, 4a, slow-channel | AD, AR |
| CHRNE | myasthenic syndrome, congenital, 4b, fast-channel | AR |
| CHRNE | myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency | AR |
| CHAT | myasthenic syndrome, congenital, 6, presynaptic | AR |
| EDN3 | {hirschsprung disease, susceptibility to, 4} | AD |
| EDN3 | central hypoventilation syndrome, congenital | AD |
| EDN3 | waardenburg syndrome, type 4b | AD, AR |
| GLRA1 | hyperekplexia 1 | AD, AR |
| COLQ | myasthenic syndrome, congenital, 5 | AR |
| PHOX2B | {neuroblastoma, susceptibility to, 2} | |
| PHOX2B | central hypoventilation syndrome, congenital, with or without hirschsprung disease | AD |
| PHOX2B | neuroblastoma with hirschsprung disease |
Chronic Granulomatous Disorder
| Title | Phenotype | Inheritance |
|---|---|---|
| CYBB | chronic granulomatous disease, x-linked | XLR |
| CYBB | immunodeficiency 34, mycobacteriosis, x-linked | XLR |
| NCF4 | ?granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii | AR |
| NCF2 | chronic granulomatous disease due to deficiency of ncf-2 | AR |
| CYBA | chronic granulomatous disease, autosomal, due to deficiency of cyba | AR |
| NCF1 | chronic granulomatous disease due to deficiency of ncf-1 | AR |
| Title | Phenotype | Inheritance |
|---|---|---|
| ALPL | hypophosphatasia, adult | AD, AR |
| ALPL | hypophosphatasia, childhood | AR |
| ALPL | hypophosphatasia, infantile | AR |
| ALPL | odontohypophosphatasia | AD, AR |
| Title | Phenotype | Inheritance |
|---|---|---|
| SERPINA1 | {pulmonary disease, chronic obstructive, susceptibility to} | |
| SERPINA1 | emphysema due to aat deficiency | AR |
| SERPINA1 | emphysema-cirrhosis, due to aat deficiency | AR |
| SERPINA1 | hemorrhagic diathesis due to antithrombin pittsburgh | AR |
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