Details of Disease

General Information of Disease (ID: DISTNCLR)

Disease Name Spinocerebellar ataxia type 15/16
Synonyms
spinocerebellar ataxia 15; SCA15; spinocerebellar ataxia 16 (formerly); spinocerebellar ataxia 16; SCA16 (formerly); spinocerebellar ataxia 16, formerly; spinocerebellar ataxia type 15/16; spinocerebellar ataxia type 16; spinocerebellar ataxia type 15; SCA15/16; SCAR16
Definition
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.|In orphanet, SCA16 is obsoleted in favor of 15/16
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DISTNCLR: Spinocerebellar ataxia type 15/16
Disease Identifiers
MONDO ID
MONDO_0011694
MESH ID
C564685
UMLS CUI
C1847725
OMIM ID
606658
MedGen ID
338301
Orphanet ID
98769
SNOMED CT ID
716724006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
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 Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITPR1 OTX7MWW1 Strong Autosomal dominant [2]
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References

1 Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clin Genet. 2017 Jan;91(1):86-91. doi: 10.1111/cge.12783. Epub 2016 May 11.
2 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007 Jun;3(6):e108. doi: 10.1371/journal.pgen.0030108. Epub 2007 May 16.