Details of Disease

General Information of Disease (ID: DISAUTC6)

• Disease Name: Autosomal recessive spinocerebellar ataxia 15
• Synonyms: autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; spinocerebellar ataxia, autosomal recessive 15; Salih ataxia; autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency; autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN; autosomal recessive spinocerebellar ataxia type 15; SCAR15; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN; RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome; RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome; spinocerebellar ataxia, autosomal recessive type 15
• Definition: Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.
• Disease Hierarchy:
  DISQGHO3: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
  DISAUTC6: Autosomal recessive spinocerebellar ataxia 15
• Disease Identifiers:
  MONDO ID: MONDO_0014311
  UMLS CUI: C3810326
  OMIM ID: 615705
  MedGen ID: 816656
  Orphanet ID: 404499
  SNOMED CT ID: 782721009

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
RUBCN	OTF1UIZC	Supportive	Autosomal recessive	[1]

References

• [1] The Salih ataxia mutation impairs Rubicon endosomal localization. Cerebellum. 2013 Dec;12(6):835-40. doi: 10.1007/s12311-013-0489-4.