Details of Disease

General Information of Disease (ID: DISMGAYN)

Disease Name Spinocerebellar ataxia type 14
Synonyms spinocerebellar ataxia 14; spinocerebellar ataxia type 14; SCA14
Definition Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DISMGAYN: Spinocerebellar ataxia type 14
Disease Identifiers
MONDO ID
MONDO_0011540
MESH ID
C537196
UMLS CUI
C1854369
OMIM ID
605361
MedGen ID
343106
Orphanet ID
98763
SNOMED CT ID
719210007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PRKCG TTRFOXJ Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APTX OTPAS5G8 moderate Biomarker [2]
CA8 OT9Y8GA8 moderate Genetic Variation [3]
SPTBN2 OTDMJ75N Strong Biomarker [4]
------------------------------------------------------------------------------------

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.
2 Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.Hum Mol Genet. 2009 Oct 1;18(19):3533-43. doi: 10.1093/hmg/ddp298. Epub 2009 Jun 26.
3 Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.Curr Neuropharmacol. 2018 Jan 30;16(2):151-159. doi: 10.2174/1570159X15666170529104000.
4 Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.Eur J Hum Genet. 2018 Jul;26(7):928-929. doi: 10.1038/s41431-018-0158-7. Epub 2018 May 25.