Details of Disease

General Information of Disease (ID: DISW4IHJ)

• Disease Name: Autosomal recessive spinocerebellar ataxia 17
• Synonyms: autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; spinocerebellar ataxia, autosomal recessive 17; autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1; CWF19L1 autosomal recessive congenital cerebellar ataxia; autosomal recessive spinocerebellar ataxia type 17; SCAR17; spinocerebellar ataxia, autosomal recessive type 17; spinocerebellar ataxia autosomal recessive type 17
• Definition: Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.
• Disease Hierarchy:
  DISIQCS1: Autosomal recessive congenital cerebellar ataxia
  DISW4IHJ: Autosomal recessive spinocerebellar ataxia 17
• Disease Identifiers:
  MONDO ID: MONDO_0014503
  UMLS CUI: C4015301
  OMIM ID: 616127
  MedGen ID: 863738
  Orphanet ID: 453521
  SNOMED CT ID: 1237625002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CWF19L1	OTAMYTOW	Strong	Autosomal recessive	[1]

References

• [1] Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology. 2014 Dec 2;83(23):2175-82. doi: 10.1212/WNL.0000000000001053. Epub 2014 Oct 31.