Porphyria Cutanea Tarda malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases, Eye diseases, Nephrological diseases, Skin diseases, Liver diseases
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Porphyria Cutanea Tarda:
Orphanet epidemiological data:52
familial porphyria cutanea tarda:
Inheritance: Autosomal dominant
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)
porphyria cutanea tarda:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy
porphyria cutanea tarda:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Eye diseases, Nephrological diseases, Skin diseases, Liver diseases
ICD10: 29 28
UniProtKB/Swiss-Prot:68 Familial porphyria cutanea tarda: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Hepatoerythropoietic porphyria: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts.
MalaCards based summary: Porphyria Cutanea Tarda, also known as hepatoerythropoietic porphyria, is related to coproporphyria and porphyria variegata, and has symptoms including thin skin, cutaneous photosensitivity and hemolytic anemia. An important gene associated with Porphyria Cutanea Tarda is UROD (Uroporphyrinogen Decarboxylase), and among its related pathways are Mineral absorption and Insulin receptor recycling. The drugs hydroxychloroquine and hydroxychloroquine sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.
Disease Ontology:11 An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
NIH Rare Diseases:46 Hepatoerythropoietic porphyria (hep) is an inherited cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. it is the autosomal recessive form of familial porphyria cutanea tarda (f-pct). the manifestations of hep resemble congenital erythropoietic porphyria (cep), with symptoms of skin blistering that usually begin in infancy. treatment may include scheduled phlebotomy and low dose hydroxychloroquine. last updated: 10/26/2010
OMIM:50 Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of... (176100) more...
Wikipedia:69 Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disease is named because it... more...
GeneReviews summary for NBK169003
Symptoms by clinical synopsis from OMIM:176100
Clinical features from OMIM:176100
Symptoms:52 (show all 17)
HPO human phenotypes related to Porphyria Cutanea Tarda:(show all 25)
Drugs for Porphyria Cutanea Tarda (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:(show all 25)
Search NIH Clinical Center for Porphyria Cutanea Tarda
Inferred drug relations via UMLS66/NDF-RT44:
MalaCards organs/tissues related to Porphyria Cutanea Tarda:34
Skin, Liver, Eye, Testes, Myeloid, Breast, Whole blood
Articles related to Porphyria Cutanea Tarda:(show top 50) (show all 561)
UniProtKB/Swiss-Prot genetic disease variations for Porphyria Cutanea Tarda:68 (show all 36)
Clinvar genetic disease variations for Porphyria Cutanea Tarda:5
Search GEO for disease gene expression data for Porphyria Cutanea Tarda.
Pathways related to Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:
Cellular components related to Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:
Biological processes related to Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:(show all 32)
Molecular functions related to Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:(show all 8)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet