Details of Disease

General Information of Disease (ID: DISW1V6N)

Disease Name Chorea-acanthocytosis
Synonyms
choreaacanthocytosis; acanthocytosis with neurologic disorder; chorea acanthocytosis; CHOREOACANTHOCYTOSIS; neuroacanthocytosis; choreo-acanthocytosis; Levine-Critchley syndrome; choreoacanthocytosis; Chac; chorea-acanthocytosis
Definition
Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.
Disease Hierarchy
DISSYRHC: Hereditary peripheral neuropathy
DISIDQ39: Epidermal disease
DISUSDSN: Neuroacanthocytosis
DISSCALK: Hereditary skin disorder
DISW1V6N: Chorea-acanthocytosis
Disease Identifiers
MONDO ID
MONDO_0008695
MESH ID
D054546
UMLS CUI
C0393576
OMIM ID
200150
MedGen ID
98277
Orphanet ID
2388
SNOMED CT ID
26848004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VPS13A OTWWKWK5 Definitive Autosomal recessive [1]
STIM1 OT8CLQ1W Limited Altered Expression [3]
ATXN7 OTL3YF1H Strong Biomarker [4]
JPH3 OTHTJO2I Strong Biomarker [5]
PANK2 OTFBW889 Strong Biomarker [5]
ERAL1 OTSH78HD Definitive Biomarker [5]
------------------------------------------------------------------------------------
⏷ Show the Full List of 6 DOT(s)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNA1 TTS3DIK Disputed Genetic Variation [2]
ORAI1 TTE76YK moderate Altered Expression [3]
KCNA5 TTW0CMT Definitive Genetic Variation [2]
KCNA6 TTJ2W69 Definitive Genetic Variation [2]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.Ann Neurol. 2001 Apr;49(4):486-92.
3 Inhibition of Lithium Sensitive Orai1/ STIM1 Expression and Store Operated Ca2+ Entry in Chorea-Acanthocytosis Neurons by NF-B Inhibitor Wogonin.Cell Physiol Biochem. 2018;51(1):278-289. doi: 10.1159/000495229. Epub 2018 Nov 19.
4 Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype.Arq Neuropsiquiatr. 2011 Jun;69(3):419-23. doi: 10.1590/s0004-282x2011000400002.
5 Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.Eur J Med Genet. 2018 Nov;61(11):699-705. doi: 10.1016/j.ejmg.2017.12.007. Epub 2017 Dec 16.