loading...| Preferred Name |
PORPHYRIA CUTANEA TARDA |
|
| Synonyms |
PCT, TYPE II |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/176100 |
|
| altLabel |
PCT, TYPE II PCT, 'FAMILIAL' TYPE PORPHYRIA, HEPATOERYTHROPOIETIC PORPHYRIA, HEPATOCUTANEOUS TYPE PCT PORPHYRIA CUTANEA TARDA, TYPE II UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY HEP UROD DEFICIENCY |
|
| cui |
C0162566 C0342861 C0268323 C0162569 |
|
| Gene Locus |
6p21.3 |
|
| Gene Symbol |
HFE1 HLA-H HFE TFQTL2 MVCD7 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036686 http://purl.bioontology.org/ontology/OMIM/MTHU041450 http://purl.bioontology.org/ontology/OMIM/MTHU041447 http://purl.bioontology.org/ontology/OMIM/MTHU037117 http://purl.bioontology.org/ontology/OMIM/MTHU023939 http://purl.bioontology.org/ontology/OMIM/MTHU006629 http://purl.bioontology.org/ontology/OMIM/MTHU000146 http://purl.bioontology.org/ontology/OMIM/MTHU008711 http://purl.bioontology.org/ontology/OMIM/MTHU010022 http://purl.bioontology.org/ontology/OMIM/MTHU016041 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 |
Caused by mutation in the uroporphyrinogen decarboxylase gene (UROD, 613521.0001) [MOLECULAR BASIS] Most common form of porphyria [MISCELLANEOUS] Susceptibility conferred by mutation in the HFE gene (HFE, 613609.0001) [MOLECULAR BASIS] Hepatoerythropoietic porphyria (HEP, 176100.0005) is a severe infantile form due to homozygous PCT [MISCELLANEOUS] Three types of PCT: Type I (176090) sporadic, presents in adults: Types II and III (176100) familial, presents in childhood [MISCELLANEOUS] Sporadic or acquired PCT precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons [MISCELLANEOUS] More common in men than women [MISCELLANEOUS] |
|
| tui |
T047 |