Details of Disease

General Information of Disease (ID: DISAST24)

• Disease Name: Spinocerebellar ataxia type 29
• Synonyms: cerebellar ataxia, congenital nonprogressive, autosomal dominant; ACV; cerebellar vermis aplasia; spinocerebellar ataxia 29; aplasia of cerebellar vermis; cerebellar ataxia early-onset nonprogressive; SCA29; spinocerebellar ataxia 29, congenital nonprogressive; spinocerebellar ataxia type 29; congenital nonprogressive spinocerebellar ataxia
• Definition: Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
• Disease Hierarchy:
  DIS947AF: Autosomal dominant cerebellar ataxia type I
  DISAST24: Spinocerebellar ataxia type 29
• Disease Identifiers:
  MONDO ID: MONDO_0007298
  MESH ID: C537206
  UMLS CUI: C1861732
  OMIM ID: 117360
  MedGen ID: 350085
  Orphanet ID: 208513
  SNOMED CT ID: 715825009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ITPR1	TT5HWAT	Limited	Genetic Variation	[1]
ITPR1	TT5HWAT	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITPR1	OTX7MWW1	Definitive	Autosomal dominant	[2]

References

• [1] De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.
• [2] 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.