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Digestive System Diseases > Liver Diseases > Porphyrias, Hepatic > Porphyria, Hepatoerythropoietic
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Porphyrias, Hepatic > Porphyria, Hepatoerythropoietic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Porphyrias, Hepatic > Porphyria, Hepatoerythropoietic
Nutritional and Metabolic Diseases > Metabolic Diseases > Porphyrias > Porphyrias, Hepatic > Porphyria, Hepatoerythropoietic

Preferred term

Porphyria, Hepatoerythropoietic  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Erythrohepatic Porphyria
  • Erythrohepatic Porphyrias
  • Hepatoerythropoietic Porphyria
  • Porphyria, Erythrohepatic
  • Porphyrias, Erythrohepatic

Note

  • do not confuse with PORPHYRIAS, HEPATIC or PORPHYRIA, ERYTHROPOIETIC

Scope note

  • An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.

History note

  • 2005 (1993)

In other languages

URI

http://www.yso.fi/onto/mesh/D017121

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