Details of Disease

General Information of Disease (ID: DIS9923V)

• Disease Name: Cerebellar ataxia, intellectual disability, and dysequilibrium
• Synonyms: VLDLRCH; cerebellar disorder, nonprogressive, with mental retardation; cerebellar hypoplasia, VLDLR associated; DES; CAMRQ syndrome; cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome; CAMRQ; non-progressive cerebellar ataxia-intellectual disability syndrome; dialysis dysequilibrium syndrome; cerebellar ataxia, mental retardation and dysequlibrium syndrome; dysequilibrium syndrome; cerebellar ataxia, mental retardation, and dysequilibrium
• Definition: A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISIQCS1: Autosomal recessive congenital cerebellar ataxia
  DIS9923V: Cerebellar ataxia, intellectual disability, and dysequilibrium
• Disease Identifiers:
  MONDO ID: MONDO_0009133
  UMLS CUI: C0394006
  MedGen ID: 98295
  Orphanet ID: 1766
  SNOMED CT ID: 230782004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUBB2B	OTJ2OTQT	Supportive	Autosomal recessive	[1]
VLDLR	OTZBTD8C	Supportive	Autosomal recessive	[2]
WDR81	OTVT8XCI	Supportive	Autosomal recessive	[2]
RIPPLY1	OT19XBFD	Limited	Autosomal recessive	[5]
ATP8A2	OTDZC2ZT	Supportive	Autosomal recessive	[6]
CA8	OT9Y8GA8	Supportive	Autosomal recessive	[7]
SFTPC	OTIZJD09	Strong	Altered Expression	[8]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1F	TTJ0SO4	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PRKCSH	DE073GW	Strong	Biomarker	[4]

References

• [1] Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet. 2017 Jan 15;26(2):258-269. doi: 10.1093/hmg/ddw383.
• [2] Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res. 2011 Dec;21(12):1995-2003. doi: 10.1101/gr.126110.111. Epub 2011 Sep 1.
• [3] A further study of a possible locus for schizophrenia on the X chromosome.Biochem Biophys Res Commun. 2006 Jun 16;344(4):1241-5. doi: 10.1016/j.bbrc.2006.04.018. Epub 2006 May 2.
• [4] PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.Hum Mol Genet. 2010 Jan 1;19(1):16-24. doi: 10.1093/hmg/ddp463.
• [5] 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.
• [6] Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. Eur J Hum Genet. 2013 Mar;21(3):281-5. doi: 10.1038/ejhg.2012.170. Epub 2012 Aug 15.
• [7] Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):826-34. doi: 10.1002/ajmg.b.31227. Epub 2011 Aug 2.
• [8] Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.Pediatr Res. 2010 Sep;68(3):216-20. doi: 10.1203/PDR.0b013e3181eb5d68.