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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/176100
http://purl.bioontology.org/ontology/OMIM/176100
|
|---|---|
| Preferred Name | PORPHYRIA CUTANEA TARDA |
| Synonyms |
PCT, TYPE II
PCT, 'FAMILIAL' TYPE
PORPHYRIA, HEPATOERYTHROPOIETIC
PORPHYRIA, HEPATOCUTANEOUS TYPE
PCT
PORPHYRIA CUTANEA TARDA, TYPE II
UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
HEP
UROD DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PCT, TYPE II
PCT, 'FAMILIAL' TYPE
PORPHYRIA, HEPATOERYTHROPOIETIC
PORPHYRIA, HEPATOCUTANEOUS TYPE
PCT
PORPHYRIA CUTANEA TARDA, TYPE II
UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
HEP
UROD DEFICIENCY
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|---|---|
| prefLabel | PORPHYRIA CUTANEA TARDA
|
| Gene Symbol | UROD
|
| 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]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 1p34
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 176100
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0162566
C0342861
C0268323
C0162569
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |