Gunther disease: Difference between revisions
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==Overview== | |||
'''Gunther disease''', or '''Gunther's disease''', is a [[congenital]] form of [[porphyria|erythropoietic porphyria]]. It is a rare, [[autosomal]] [[recessive]]<ref>{{cite journal |pmid=2331520 |year=1990 |author=Deybach JC, De Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y |title=Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease) |volume=75 |issue=9 |pages=1763–5 |issn=0006-4971 |journal=Blood}}</ref> [[metabolic disorder]] of [[heme]] caused by deficiency of the enzyme [[uroporphyrinogen cosynthetase]]. | '''Gunther disease''', or '''Gunther's disease''', is a [[congenital]] form of [[porphyria|erythropoietic porphyria]]. It is a rare, [[autosomal]] [[recessive]]<ref>{{cite journal |pmid=2331520 |year=1990 |author=Deybach JC, De Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y |title=Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease) |volume=75 |issue=9 |pages=1763–5 |issn=0006-4971 |journal=Blood}}</ref> [[metabolic disorder]] of [[heme]] caused by deficiency of the enzyme [[uroporphyrinogen cosynthetase]]. | ||
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[[Image:autorecessive.jpg|thumb|left|{{PAGENAME}} has an autosomal recessive pattern of [[inheritance]].]] | [[Image:autorecessive.jpg|thumb|left|{{PAGENAME}} has an autosomal recessive pattern of [[inheritance]].]] | ||
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==Eponym== | ==Eponym== | ||
It is named for Hans Gunther.<ref name="pmid17986065">{{cite journal |author=Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE |title=Hans Gunther and his disease |journal=Photodermatol Photoimmunol Photomed |volume=23 |issue=6 |pages=261–3 |year=2007 |pmid=17986065 |doi=10.1111/j.1600-0781.2007.00323.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0905-4383&date=2007&volume=23&issue=6&spage=261}}</ref> | It is named for Hans Gunther.<ref name="pmid17986065">{{cite journal |author=Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE |title=Hans Gunther and his disease |journal=Photodermatol Photoimmunol Photomed |volume=23 |issue=6 |pages=261–3 |year=2007 |pmid=17986065 |doi=10.1111/j.1600-0781.2007.00323.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0905-4383&date=2007&volume=23&issue=6&spage=261}}</ref> | ||
== Genetics == | == Genetics == | ||
[[Image:Autorecessive.jpg|thumb|left|Gunther disease has an autosomal recessive pattern of [[heredity|inheritance]].]] | [[Image:Autorecessive.jpg|thumb|left|Gunther disease has an autosomal recessive pattern of [[heredity|inheritance]].]] | ||
Gunther disease is caused by mutations in the gene that encodes the enzyme uroporphyrinogen III synthase (UROS), located at human [[chromosome]] [[chromosome 10 (human)|10q25.2-q26.3]].<ref name=gdar/><ref>{{OMIM|606938}}</ref> The disorder is inherited in an autosomal recessive manner. | Gunther disease is caused by mutations in the gene that encodes the enzyme uroporphyrinogen III synthase (UROS), located at human [[chromosome]] [[chromosome 10 (human)|10q25.2-q26.3]].<ref name=gdar/><ref>{{OMIM|606938}}</ref> 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 [[genetic carrier|carry]] one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. | ||
==References== | ==References== | ||
{{reflist}} | {{reflist|2}} | ||
==External links== | ==External links== | ||
*{{RareDiseases|4446|Porphyria, congenital erythropoietic}} | *{{RareDiseases|4446|Porphyria, congenital erythropoietic}} | ||
Revision as of 18:38, 13 August 2012
| 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]
Overview
Gunther disease, or Gunther's 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.
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][4] 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
- ↑ 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.
- ↑ 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.
- ↑ Invalid
<ref>tag; no text was provided for refs namedgdar - ↑ Online Mendelian Inheritance in Man (OMIM) 606938