Details of Disease

General Information of Disease (ID: DISAQ91A)

• Disease Name: Autosomal recessive spinocerebellar ataxia 10
• Synonyms: adult-onset autosomal recessive cerebellar ataxia; spinocerebellar ataxia, autosomal recessive 10; autosomal recessive spinocerebellar ataxia type 10; spinocerebellar ataxia, autosomal recessive type 10; autosomal recessive cerebellar ataxia caused by mutation in ANO10; ANO10 autosomal recessive cerebellar ataxia; SCAR10
• Definition: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.
• Disease Hierarchy:
  DISWBOUC: Autosomal recessive cerebellar ataxia
  DISAQ91A: Autosomal recessive spinocerebellar ataxia 10
• Disease Identifiers:
  MONDO ID: MONDO_0013392
  UMLS CUI: C3150998
  OMIM ID: 613728
  MedGen ID: 462348
  Orphanet ID: 284289
  SNOMED CT ID: 785302009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANO10	OTG3BNOU	Strong	Autosomal recessive	[1]
ATXN10	OTKRDUNN	Strong	Genetic Variation	[2]

References

• [1] Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18.
• [2] ANO10 mutations cause ataxia and coenzyme Q deficiency.J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3.