Details of Disease

General Information of Disease (ID: DISZDE2N)

• Disease Name: Autosomal recessive spinocerebellar ataxia 16
• Synonyms: spinocerebellar ataxia, autosomal recessive 16; autosomal recessive cerebellar ataxia due to STUB1 deficiency; autosomal recessive spinocerebellar ataxia 16; SCAR16; spinocerebellar ataxia, autosomal recessive type 16; autosomal recessive spinocerebellar ataxia type 16; autosomal recessive cerebellar ataxia caused by mutation in STUB1; spinocerebellar ataxia autosomal recessive type 16; STUB1 autosomal recessive cerebellar ataxia
• Definition: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.
• Disease Hierarchy:
  DISWBOUC: Autosomal recessive cerebellar ataxia
  DISZDE2N: Autosomal recessive spinocerebellar ataxia 16
• Disease Identifiers:
  MONDO ID: MONDO_0014339
  UMLS CUI: C5190574
  OMIM ID: 615768
  MedGen ID: 1674542
  Orphanet ID: 412057
  SNOMED CT ID: 782719004

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
STUB1	OTSUYI9A	Strong	Autosomal recessive	[1]

References

• [1] 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.