Details of Disease

General Information of Disease (ID: DIS9KIX3)

Disease Name Spinocerebellar ataxia type 18
Synonyms sensorimotor neuropathy with ataxia, autosomal dominant; SMNA; sensorimotor neuropathy with ataxia autosomal dominant; spinocerebellar ataxia 18; SCA18
Definition Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DIS9KIX3: Spinocerebellar ataxia type 18
Disease Identifiers
MONDO ID
MONDO_0011834
MESH ID
C537197
UMLS CUI
C1843884
OMIM ID
607458
MedGen ID
336066
Orphanet ID
98771
SNOMED CT ID
719250005

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
IFRD1 OT4SQMLQ Supportive Autosomal dominant [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.