Details of Disease

General Information of Disease (ID: DISBHBD6)

• Disease Name: Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
• Synonyms: cerebellar ataxia, congenital, and intellectual disability, autosomal recessive; cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1; cerebellar hypoplasia, VLDLR-associated; dysequilibrium syndrome; CAMRQ1; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; cerebellar ataxia, congenital, and mental retardation, autosomal recessive; cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1; dysequilibrium syndrome caused by mutation in VLDLR; cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1; VLDLR dysequilibrium syndrome; cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
• Definition: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.
• Disease Hierarchy:
  DIS9923V: Cerebellar ataxia, intellectual disability, and dysequilibrium
  DISBHBD6: Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0024542
  MESH ID: C535731
  UMLS CUI: C4551552
  OMIM ID: 224050
  MedGen ID: 1639436

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VLDLR	OTZBTD8C	Definitive	Autosomal recessive	[1]
ATP8A2	OTDZC2ZT	Strong	Biomarker	[2]
CA8	OT9Y8GA8	Strong	Biomarker	[3]
HTN1	OTH3W1RR	Strong	Altered Expression	[4]
MUC19	OTM06UGV	Strong	Altered Expression	[5]
MUC7	OTSTMP0X	Strong	Biomarker	[6]
PES1	OTMZK7XE	Strong	Biomarker	[7]
SYNCRIP	OTRNDZXB	Strong	Biomarker	[8]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [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] Evaluation of Accessory Lacrimal Gland in Muller's Muscle Conjunctival Resection Specimens for Precursor Cell Markers and Biological Markers of Dry Eye Disease.Curr Eye Res. 2017 Apr;42(4):491-497. doi: 10.1080/02713683.2016.1214966. Epub 2016 Sep 9.
• [5] Expression of mucins MUC5AC and MUC19 on the ocular surface in dry eye syndrome model of ovariectomized female rabbits.Adv Clin Exp Med. 2019 Feb;28(2):165-169. doi: 10.17219/acem/78021.
• [6] Ocular mucin gene expression levels as biomarkers for the diagnosis of dry eye syndrome.Invest Ophthalmol Vis Sci. 2011 Oct 28;52(11):8363-9. doi: 10.1167/iovs.11-7655.
• [7] A highly soluble matrix metalloproteinase-9 inhibitor for potential treatment of dry eye syndrome.Basic Clin Pharmacol Toxicol. 2012 Nov;111(5):289-95. doi: 10.1111/j.1742-7843.2012.00896.x. Epub 2012 May 18.
• [8] Tear Fluid Protein Changes in Dry Eye Syndrome Associated with Rheumatoid Arthritis: A Proteomic Approach.Ocul Surf. 2017 Jan;15(1):112-129. doi: 10.1016/j.jtos.2016.09.005. Epub 2016 Oct 24.