Details of Disease

General Information of Disease (ID: DISHNFD7)

Disease Name Porphyria cutanea tarda
Synonyms porphyria cutania tarda; PCT
Definition The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.|Editor notes: ORDO classifies as inherited but in fact many forms are inherited
Disease Hierarchy
DISMI8EV: Hepatic porphyria
DISY5SZC: Dermatitis
DISHNFD7: Porphyria cutanea tarda
Disease Identifiers
MONDO ID
MONDO_0015104
MESH ID
D017119
UMLS CUI
C0162566
OMIM ID
176100
MedGen ID
56453
Orphanet ID
101330
SNOMED CT ID
61860000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC40A1 TT6Y1PG moderate Genetic Variation [1]
CD6 TTMF6KC Strong Altered Expression [2]
FECH TTQ6VF4 Strong Genetic Variation [3]
HAMP TTRV5YJ Strong Biomarker [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPOX OTIAY121 Limited Biomarker [5]
TFR2 OTMYCCEO moderate Genetic Variation [6]
HJV OT4235J2 Strong Genetic Variation [7]
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References

1 SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry.Ann Hum Genet. 2018 Sep;82(5):300-303. doi: 10.1111/ahg.12253. Epub 2018 May 17.
2 IL-6 and MYC collaborate in plasma cell tumor formation in mice.Blood. 2010 Mar 4;115(9):1746-54. doi: 10.1182/blood-2009-08-237941. Epub 2009 Dec 17.
3 Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.Cell Mol Biol (Noisy-le-grand). 2002 Dec;48(8):867-76.
4 Association between hepatitis C virus and porphyria cutanea tarda.Mol Genet Metab. 2019 Nov;128(3):282-287. doi: 10.1016/j.ymgme.2019.05.003. Epub 2019 May 9.
5 [Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria].Med Klin (Munich). 2002 Jan 15;97(1):1-5. doi: 10.1007/s00063-002-1117-0.
6 High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic.Br J Dermatol. 2008 Sep;159(3):585-90. doi: 10.1111/j.1365-2133.2008.08693.x. Epub 2008 Jun 28.
7 Down-regulation of hepcidin in porphyria cutanea tarda.Blood. 2008 Dec 1;112(12):4723-8. doi: 10.1182/blood-2008-02-138222. Epub 2008 Sep 22.