loading...| Preferred Name |
PORPHYRIA CUTANEA TARDA |
| Synonyms |
PORPHYRIA, HEPATOERYTHROPOIETIC |
| ID |
http://purl.bioontology.org/ontology/OMIM/176100 |
| altLabel |
PORPHYRIA, HEPATOERYTHROPOIETIC UROD DEFICIENCY PORPHYRIA CUTANEA TARDA, TYPE II PCT, TYPE II PORPHYRIA, HEPATOCUTANEOUS TYPE PCT HEP PCT, 'FAMILIAL' TYPE UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY |
| cui |
C0268323 C0342861 C0162566 C0162569 |
| Gene Locus |
6p21.3 |
| Gene Symbol |
HFE1 HFE TFQTL2 HLA-H MVCD7 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU008711 http://purl.bioontology.org/ontology/OMIM/MTHU036686 http://purl.bioontology.org/ontology/OMIM/MTHU000146 http://purl.bioontology.org/ontology/OMIM/MTHU041448 http://purl.bioontology.org/ontology/OMIM/MTHU041450 http://purl.bioontology.org/ontology/OMIM/MTHU016041 http://purl.bioontology.org/ontology/OMIM/MTHU016039 http://purl.bioontology.org/ontology/OMIM/MTHU010022 http://purl.bioontology.org/ontology/OMIM/MTHU023939 http://purl.bioontology.org/ontology/OMIM/MTHU006629 http://purl.bioontology.org/ontology/OMIM/MTHU041449 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
176100 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
PORPHYRIA CUTANEA TARDA |
| Scope Statement |
Most common form of porphyria [MISCELLANEOUS] More common in men than women [MISCELLANEOUS] Three types of PCT: Type I (176090) sporadic, presents in adults: Types II and III (176100) familial, presents in childhood [MISCELLANEOUS] Caused by mutation in the uroporphyrinogen decarboxylase gene (UROD, 613521.0001) [MOLECULAR BASIS] Hepatoerythropoietic porphyria (HEP, 176100.0005) is a severe infantile form due to homozygous PCT [MISCELLANEOUS] Susceptibility conferred by mutation in the HFE gene (HFE, 613609.0001) [MOLECULAR BASIS] Sporadic or acquired PCT precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons [MISCELLANEOUS] |
| tui |
T047 |