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

Preferred term

Porphyria, Variegate  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Deficiency, Ppox
  • Porphyria, South African Type
  • Porphyria Variegata
  • Porphyria Variegate
  • Ppox Deficiencies
  • Ppox Deficiency
  • Protoporphyrinogen Oxidase Deficiency
  • Variegate Porphyria

Scope note

  • An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh 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, COPROPORPHYRINS and protoporphyrinogen.

History note

  • 2005; use PORPHYRIA, HEPATIC 1993-2004

In other languages

URI

http://www.yso.fi/onto/mesh/D046350

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