Disease | Gene | Gene product | Inheritance | Extra-tubular manifestations | Phenotype OMIM number |
---|---|---|---|---|---|
Cystinosis | CTNS | Cystinosin | Autosomal recessive | Fair hair and complexion, hypothyroidism, photophobia (corneal cysteine crystals) | 219800 |
Tyrosinaemia type 1 | FAH | Fumaryl acetoacetate hydrolase | Autosomal recessive | Hepatomegaly, progressive liver dysfunction, peripheral neuropathy | 276700 |
Galactosaemia | GALT | Galactose-1-phosphate uridyltransferase | Autosomal recessive | Cataracts, hepatomegaly, progressive liver dysfunction, seizures, hypoglycaemia | 230400 |
Lowe's syndrome | OCRL | Phosphatidylinositol 4,5-bisphosphate 5-phosphatase | X-Linked | Cataracts, hypotonia, developmental delay | 309000 |
Dent's disease | CLCN5 | Chloride channel | X-Linked | Nephrocalcinosis, nephrolithiasis | 300009 |
Cystinuria type 1 | SLC3A1 | SLC3A1 amino acid transport protein | Autosomal recessive | Nephrolithiasis (cystine stones) | 220100 |
OMIM, Online Mendelian Inheritance in Man.