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

Preferred term

Porphyrias, Hepatic  

Type

  • mesh:Descriptor

Definition

  • A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.

Broader concept

Narrower concepts

Entry terms

  • Hepatic Porphyria
  • Porphyria, Hepatic

Allowable Qualifier(s)

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URI

http://data.loterre.fr/ark:/67375/JVR-JZCDP09V-P

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RDF/XML TURTLE JSON-LD Created 5/22/92, last modified 6/5/15