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

Preferred term

Porphyria, Erythropoietic  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

Note

  • do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC

Scope note

  • 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.

History note

  • 1993

In other languages

  • erytropoieettinen porfyria

    Finnish

  • erytropoetisk protoporfyri
  • hereditär erytropoetisk porfyri
  • kongenital erytropoetisk porfyri
  • perinnöllinen erytropoieettinen porfyria
  • porphyria erythropoetica congenita
  • porphyria erythropoetica hereditaria
  • porphyria erythropoietica
  • protoporphyria erythropoetica
  • synnynnäinen erytropoieettinen porfyria
  • Porfyri, erytropoetisk

    Swedish

URI

http://www.yso.fi/onto/mesh/D017092

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