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

Preferred term

Coproporphyria, Hereditary  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Coproporphyrinogen Oxidase Deficiency
  • Deficiency, Coproporphyrinogen Oxidase
  • Hereditary Coproporphyria

Scope note

  • An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.

History note

  • 2005; use PORPHYRIA, HEPATIC 1993-2004

In other languages

URI

http://www.yso.fi/onto/mesh/D046349

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