Details of Disease

General Information of Disease (ID: DISUFWJU)

• Disease Name: Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
• Synonyms: CAMRQ2; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2; cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2; cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2; cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2; WDR81 dysequilibrium syndrome; dysequilibrium syndrome caused by mutation in WDR81
• Definition: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.
• Disease Hierarchy:
  DIS9923V: Cerebellar ataxia, intellectual disability, and dysequilibrium
  DISUFWJU: Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
• Disease Identifiers:
  MONDO ID: MONDO_0012430
  MESH ID: C567656
  UMLS CUI: C2750234
  OMIM ID: 610185
  MedGen ID: 412914

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WDR81	OTVT8XCI	Strong	Autosomal recessive	[1]
ATP8A2	OTDZC2ZT	moderate	Biomarker	[2]
CA8	OT9Y8GA8	moderate	Biomarker	[3]
MAP1LC3C	OTM4ECDK	Strong	Biomarker	[4]

References

• [1] Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.
• [2] Loss of Tmem30a leads to photoreceptor degeneration.Sci Rep. 2017 Aug 24;7(1):9296. doi: 10.1038/s41598-017-09506-5.
• [3] 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.
• [4] The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.J Cell Biol. 2017 May 1;216(5):1301-1320. doi: 10.1083/jcb.201608039. Epub 2017 Apr 12.