Details of Disease

General Information of Disease (ID: DISYM1WZ)

• Disease Name: Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
• Synonyms: cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3; CAMRQ3; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3; CA8 dysequilibrium syndrome; cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3; dysequilibrium syndrome caused by mutation in CA8; cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
• Definition: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.
• Disease Hierarchy:
  DIS9923V: Cerebellar ataxia, intellectual disability, and dysequilibrium
  DISYM1WZ: Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
• Disease Identifiers:
  MONDO ID: MONDO_0013188
  MESH ID: C567690
  UMLS CUI: C2750509
  OMIM ID: 613227
  MedGen ID: 442496

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

References

• [1] Loss of Tmem30a leads to photoreceptor degeneration.Sci Rep. 2017 Aug 24;7(1):9296. doi: 10.1038/s41598-017-09506-5.
• [2] Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.