Porphyria cutanea tarda

Preferred Label : Porphyria cutanea tarda;

CISMeF acronym : HEP; PCT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Porphyria cutanea tarda, type II; Pct, type II; Pct, 'familial' type; Porphyria, hepatocutaneous type; Uroporphyrinogen decarboxylase deficiency; Urod deficiency; PCT;

Included titles and symbols : Porphyria, hepatoerythropoietic; HEP;

Description : Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980). De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (176090), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (613609) that are responsible for hereditary hemochromatosis (235200) (review by Lambrecht et al., 2007).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Susceptibility conferred by mutation in the HFE gene (HFE, 613609.0001); Caused by mutation in the uroporphyrinogen decarboxylase gene (UROD, 176100.0001);

Neoplasia : Increased incidence of hepatocellular carcinoma;

Laboratory abnormalities : Reduced liver and red cell uroporphyrinogen decarboxylase (URO decarboxylase);

Prefixed ID : #176100;

Details

Origin ID

176100;

UMLS CUI

C0162566;

Automatic exact mappings (from CISMeF team)
- CALCA wt Allele [NCIt concept]
- EPHB6 wt Allele [NCIt concept]
- Ephrin Type-B Receptor 6 [NCIt concept]
- Familial porphyria cutanea tarda [ORDO Disease]
- HEP (body structure) [SNOMED CT concept]
- HPSE wt Allele [NCIt concept]
- Hepatoerythropoietic Porphyria [NCIt concept]
- Hepatoerythropoietic porphyria [ORDO Disease]
- Hepatoerythropoietic porphyria [ICD-11 More detail]
- Homozygous porphyria cutanea tarda (disorder) [SNOMED CT concept]
- Percent (property) (qualifier value) [SNOMED CT concept]
- Prevention, Clinical, and Therapeutic Subcommittee [NCIt concept]
- Procalcitonin [MeSH concept]
- Procalcitonin Measurement [NCIt concept]
- UROD wt Allele [NCIt concept]
- Uroporphyrinogen decarboxylase deficiency [MedDRA LLT]
- Uroporphyrinogen decarboxylase deficiency (disorder) [SNOMED CT concept]
- hepatoerythropoietic porphyria [DO Concept]
- porphyria, hepatoerythropoietic [MeSH Descriptor]
- porphyria, hepatoerythropoietic [MeSH concept]
- prothrombin consumption time, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Porphyria Cutanea Tarda [NCIt concept]
- Porphyria cutanea tarda [ICD-10 Sub-category]
- Porphyria cutanea tarda [PASCAL descriptor]
- Porphyria cutanea tarda [ICD-11 Sub-sub category]
- Porphyria cutanea tarda [ICD-10 Sub-category (who)]
- Porphyria cutanea tarda [ORDO Disease]
- Porphyria cutanea tarda [MedDRA LLT]
- Porphyria cutanea tarda (disorder) [SNOMED CT concept]
- porphyria cutanea tarda [DO Concept]
- porphyria cutanea tarda [Disease (Nov.)]
- porphyria cutanea tarda [MeSH Descriptor]
- porphyria cutanea tarda [MeSH concept]
- porphyria cutanea tarda, nos [SNOMED Notion]
DO Cross reference
- porphyria cutanea tarda [DO Concept]
False automatic mappings
- Histamine Equivalent Prick Unit [NCIt concept]
Genes related to phenotype
- Uroporphyrinogen decarboxylase [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Cutaneous photosensitivity [HPO term]
- Facial hypertrichosis [HPO term]
- Fragile skin [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hyperpigmentation in sun-exposed areas [HPO term]
- Onycholysis [HPO term]
- Pseudoscleroderma [HPO term]
- Scleroderma [HPO term]
ORDO concept(s)
- Familial porphyria cutanea tarda [ORDO Disease]
- Hepatoerythropoietic porphyria [ORDO Disease]
- Porphyria cutanea tarda [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cutaneous hepatic porphyria [MedDRA LLT]
- Porphyria Cutanea Tarda [NCIt concept]
- Porphyria cutanea tarda [ICD-10 Sub-category (who)]
- Porphyria cutanea tarda [ICD-10 Sub-category]
- Porphyria cutanea tarda [MedDRA LLT]
- Porphyria cutanea tarda [ORDO Disease]
- Porphyria cutanea tarda [PASCAL descriptor]
- Porphyria cutanea tarda [ICD-11 Sub-sub category]
- Porphyria cutanea tarda (disorder) [SNOMED CT concept]
- porphyria cutanea tarda [MeSH Descriptor]
- porphyria cutanea tarda [MeSH concept]
- porphyria cutanea tarda [DO Concept]
- porphyria cutanea tarda [Disease (Nov.)]
- porphyria cutanea tarda, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Familial porphyria cutanea tarda (disorder) [SNOMED CT concept]
- familial porphyria cutanea tarda [Disease (Nov.)]

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