Details of Disease

General Information of Disease (ID: DISUQQ6J)

Disease Name Hepatoerythropoietic porphyria
Synonyms HEP
Definition A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.
Disease Hierarchy
DISYJ053: Familial porphyria cutanea tarda
DISUQQ6J: Hepatoerythropoietic porphyria
Disease Identifiers
MONDO ID
MONDO_0019799
MESH ID
D017121
UMLS CUI
C0162569
MedGen ID
57940
Orphanet ID
95159
SNOMED CT ID
111386004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UROD OTPP4UH5 Supportive Autosomal recessive [1]
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References

1 Hepatoerythropoietic Porphyria. 2013 Oct 31 [updated 2022 Dec 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.