Chorea acanthocytosis

Chorea acanthocytosis
Neuroacanthocytosis
Classification and external resources
OMIM 200150
DiseasesDB 29707
GeneReviews Choreoacanthocytosis

Chorea-acanthocytosis (ChAc, also called Choreoacanthocytosis),[1] is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name Neuroacanthocytosis.[2] When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.

Other effects of the disease may include epilepsy, behaviour changes, muscle degeneration, and neuronal degradation similar to Huntington's Disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death.

Chorea-acanthocytosis is considered an autosomal recessive disorder, although a few cases with autosomal dominant inheritance have been noted.[1]

External links

References

  1. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 200150
  2. ^ "Chorea Acanthocytosis." Genetics Home Reference. Genetics Home Reference, ::May 2008. Web. 07 Feb. 2010.
  • "Chorea Acanthocytosis." Genetics Home Reference. Genetics Home Reference, ::May 2008. Web. 07 Feb. 2010.



Wikimedia Foundation. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • Chorea — Ceaseless rapid complex body movements that look well coordinated and purposeful but are, in fact, involuntary. Chorea was thought suggestive of a grotesque dance. The term chorea is derived from the Greek word choreia for dancing (as is… …   Medical dictionary

  • Neuroacanthocytosis — Classification and external resources OMIM 200150 DiseasesDB 29707 eMedicine …   Wikipedia

  • VPS13A — Vacuolar protein sorting 13 homolog A (S. cerevisiae), also known as VPS13A, is a human gene.cite web | title = Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene… …   Wikipedia

  • Neuroakanthozytose — Bei dem Begriff Neuroakanthozytose handelt es sich um eine Sammelbezeichnung für eine inhomogene Gruppe von neurologischen Erkrankungen, die durch die Kombination aus Akanthozyten, progressiven Dyskinesien und einer subkortikalen Demenz… …   Deutsch Wikipedia

  • McLeod syndrome — This article is about the genetic disease of the blood, not MacLeod s syndrome (the lung disease). McLeod syndrome Classification and external resources OMIM 314850 DiseasesDB 29708 …   Wikipedia

  • Huntington's disease — Classification and external resources A microscope image of …   Wikipedia

  • XK (protein) — Protein Name=XK (protein) caption= Symbol=XK AltSymbols=XKR1, Kx, X1k HGNCid=12811 Chromosome=X Arm=p Band=21.2 LocusSupplementaryData= p21.1 ECnumber= OMIM=314850 EntrezGene=7504 RefSeq=NM 021083 UniProt=P51811 PDB=BAE48708XK (also known as Kell …   Wikipedia

  • List of diseases (C) — A list of diseases in the English wikipedia.C* C syndrome * C1 esterase deficiency (angioedema)CaCac Cal* Cacchi Ricci disease * CACH syndrome * Cafe au lait spots syndrome * Caffey disease * CAHMR syndrome * Calcinosis cutis (see also CREST… …   Wikipedia

  • List of diseases (A) — A listing of diseases.DiseasesTOC Aa Ab* Aagenaes syndrome * Aarskog Ose Pande syndrome * Aarskog syndrome * Aase Smith syndrome * Aase syndrome * ABCD syndrome * Abasia * Abdallat Davis Farrage syndrome * Abdominal aortic aneurysm * Abdominal… …   Wikipedia

  • Acanthocyte — is a general term meaning spiny cell . AKA spur cell in more severe cases*In human biology and medicine, the term refers to pathological red blood cells, which are coarse and irregularly crenellated resembling many pointed stars. They are seen on …   Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”