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GENATLAS PHENOTYPE |
last update : 1/12/2005 |
Symbol | PCT1 |
Location | 1p34.1 |
Name | porphyria cutanea tarda, type I |
Other name(s) | PCT "sporadic" type |
Corresponding gene | UROD |
Other symbol(s) | PCTH, UROD |
Main clinical features |
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Genetic determination | autosomal dominant |
Related entries | . including hepatoerythropoietic porphyria (HEP) , a severe form of cutaneous porphyria that presents in infancy and is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes |
Function/system disorder | metabolism/porphyrin and heme |
Type | disease |
Gene product |
Name | uroporphyrinogen decarboxylase (UROD) |
Remark(s) | likely by heterozygosity to some HFE mutations or by the highly inducible A/A genotype of CYP1A2 |