Details of Disease

General Information of Disease (ID: DIS0U436)

Disease Name Spinocerebellar ataxia type 21
Synonyms spinocerebellar ataxia 21; spinocerebellar ataxia type 21; SCA21
Definition
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DIS0U436: Spinocerebellar ataxia type 21
Disease Identifiers
MONDO ID
MONDO_0011833
MESH ID
C537200
UMLS CUI
C1843891
OMIM ID
607454
MedGen ID
375311
Orphanet ID
98773
SNOMED CT ID
718774001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TMEM240 OTWOP87P Definitive Autosomal dominant [1]
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References

1 The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240). J Child Neurol. 2020 Dec;35(14):953-962. doi: 10.1177/0883073820943488. Epub 2020 Jul 24.