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Nutritional and Metabolic Diseases > Metabolic Diseases > Porphyrias > Porphyria, Erythropoietic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Porphyria, Erythropoietic
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Porphyria, Erythropoietic

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Porphyria, Erythropoietic  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Congenital Erythropoietic Porphyria
  • Erythropoietic Porphyria
  • Gunther Disease
  • Gunther's Disease
  • Porphyria, Congenital Erythropoietic
  • Porphyria, Erythropoietic, Congenital

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-FQT08KZH-W

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