Details of Disease

General Information of Disease (ID: DIS6OVTM)

• Disease Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
• Synonyms: cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss; CAPOS; CAPOS syndrome
• Definition: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
• Disease Hierarchy:
  DIS947AF: Autosomal dominant cerebellar ataxia type I
  DISRW48Z: ATP1A3-associated neurological disorder
  DISE9P9R: Autosomal dominant optic atrophy plus syndrome
  DIS6OVTM: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0011038
  MESH ID: C535351
  UMLS CUI: C1832466
  OMIM ID: 601338
  MedGen ID: 318633
  Orphanet ID: 1171
  SNOMED CT ID: 720634003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
OPA1	TTTU49Q	Limited	GermlineCausalMutation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP1A3	OTM8EG6H	Definitive	Autosomal dominant	[2]

References

• [1] Dominant optic atrophy.Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46.
• [2] 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.