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

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Porphyria, Hepatoerythropoietic  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

  • Hepatoerythropoietic Porphyria
  • Porphyria, Erythrohepatic

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-LXMQK4GL-0

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RDF/XML TURTLE JSON-LD Creado 22/5/92, última modificación 5/6/15