Details of Disease

General Information of Disease (ID: DISF9SBX)

• Disease Name: Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
• Synonyms: cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4; cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4; CAMRQ4; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4; dysequilibrium syndrome caused by mutation in ATP8A2; cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4; cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4; cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4; ATP8A2 dysequilibrium syndrome
• Definition: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.
• Disease Hierarchy:
  DIS9923V: Cerebellar ataxia, intellectual disability, and dysequilibrium
  DISF9SBX: Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
• Disease Identifiers:
  MONDO ID: MONDO_0014104
  UMLS CUI: C3808977
  OMIM ID: 615268
  MedGen ID: 815307

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
CA8	OT9Y8GA8	moderate	Biomarker	[1]
ATP8A2	OTDZC2ZT	Strong	Autosomal recessive	[2]

References

• [1] Pathogenesis of severe ataxia and tremor without the typical signs of neurodegeneration.Neurobiol Dis. 2016 Feb;86:86-98. doi: 10.1016/j.nbd.2015.11.008. Epub 2015 Nov 14.
• [2] Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet. 2010 Dec;18(12):1360-3. doi: 10.1038/ejhg.2010.126. Epub 2010 Aug 4.