- Acheiropodia
Infobox_Disease
Name = Acheiropodia
Caption =
DiseasesDB = 32738
ICD10 =
ICD9 =
ICDO =
OMIM = 200500
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =Acheiropodia, also known as Horn Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type), is an
autosomal recessive cite journal |pmid=10780921 |year=2000 |month=Jun |author=Escamilla, Ma; Demille, Mc; Benavides, E; Roche, E; Almasy, L; Pittman, S; Hauser, J; Lew, Df; Freimer, Nb; Whittle, Mr |title=A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis |volume=66 |issue=6 |pages=1995–2000 |pmc=1378047 |doi=10.1086/302921 |journal=American journal of human genetics ] disorder that results inhemimelia , a lack of formation of the distal extremities.This is a
congenital defect which consists of bilateralamputation s of the distal upper and lower extremities, as well asaplasia of thehand s and feet. It was first discovered and is prevalent almost exclusively inBrazil . [cite journal |pmid=7018242 |year=1981 |month= |author=Freire-Maia, A |title=Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia |volume=9 |issue=1 |pages=31–41 |doi=10.1002/ajmg.1320090108 |journal=American journal of medical genetics]Genetics
It has been associated with a
mutation in the "LMBR1 " gene.cite journal |author=Ianakiev P, van Baren MJ, Daly MJ, "et al" |title=Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene |journal=Am. J. Hum. Genet. |volume=68 |issue=1 |pages=38–45 |year=2001 |month=Jan |pmid=11090342 |pmc=1234933 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62470-7 |doi=10.1086/316955]References
External links
* [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=931 Overview] at
Orphanet
* [http://ctd.mdibl.org/detail.go?type=disease&db=OMIM&acc=200500 CTD's Acheiropodia page] from theComparative Toxicogenomics Database
* http://acronyms.thefreedictionary.com/acheiropody
* [http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1378047&blobtype=pdf PDF of Am. J. of Human Genetics article]
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