Porphyria Cutanea Tarda

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 (OMIM ), 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 (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

Clinical Features

Top most frequent phenotypes and symptoms related to Porphyria Cutanea Tarda

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema
  • Abnormality of the liver
  • Skin rash
  • Cirrhosis
  • Hemolytic anemia
  • Hepatic steatosis

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available PORPHYRIA CUTANEA TARDA have a estimated incidence of 0.6 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Porphyria Cutanea Tarda Is also known as uroporphyrinogen decarboxylase deficiency, pct, pct, type ii, pct, 'familial' type, urod deficiency, porphyria cutanea tarda, type ii, porphyria, hepatocutaneous type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Porphyria Cutanea Tarda Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HFE.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

HFE
Specificity
100 %
Genes
50 %
HFE Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

HFE
Specificity
100 %
Genes
50 %
Hereditary hemochromatosis.

By Center for Human Genetics, Inc (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

HFE
Specificity
100 %
Genes
50 %
HFE-Associated Hereditary Hemochromatosis.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis, C282Y with reflex to H63D.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis, H63D.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

HFE
Specificity
100 %
Genes
50 %

You can get up to 123 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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