Gunther disease

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Gunther disease
ICD-10 E80.0
OMIM 263700
DiseasesDB 3048
eMedicine derm/145 
MeSH D017092

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Congenital erythropoeitic porphyria; Gunther's disease.

Overview

Gunther disease, is a congenital form of erythropoietic porphyria. It is a rare, autosomal recessive[1] metabolic disorder of heme caused by deficiency of the enzyme uroporphyrinogen cosynthetase.

Gunther disease has an autosomal recessive pattern of inheritance.


Eponym

It is named for Hans Gunther.[2]

Genetics

Gunther disease is caused by mutations in the gene that encodes the enzyme uroporphyrinogen III synthase (UROS), located at human chromosome 10q25.2-q26.3.[3] The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References

  1. Deybach JC, De Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y (1990). "Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease)". Blood 75 (9): 1763–5. ISSN 0006-4971. PMID 2331520.
  2. Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE (2007). "Hans Gunther and his disease". Photodermatol Photoimmunol Photomed 23 (6): 261–3. doi:10.1111/j.1600-0781.2007.00323.x. PMID 17986065.
  3. Online 'Mendelian Inheritance in Man' (OMIM) 606938

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