You are using an outdated browser. Please upgrade your browser to improve your experience.

cutaneous porphyria

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


GARD Rare
Mondo Description Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.
Uniprot Description 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. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer.
Mondo Term and Equivalent IDs
MONDO:0009902:  cutaneous porphyria
GARD:0004446: 
MESH:D017092: 
NCIT:C84697: 
Orphanet:79277: 
SCTID:67312003: