Details of Disease

General Information of Disease (ID: DISYMLLZ)

Disease Name Spinocerebellar ataxia with epilepsy
Synonyms SCAE; MSCAE; mitochondrial spinocerebellar ataxia with epilepsy
Disease Hierarchy
DISC52SS: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
DISYMLLZ: Spinocerebellar ataxia with epilepsy
Disease Identifiers
MONDO ID
MONDO_0016809
UMLS CUI
C1843852
MedGen ID
334510
Orphanet ID
254881
SNOMED CT ID
699328003

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
POLG OTDUCT04 Supportive Autosomal recessive [1]
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References

1 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology. 2005 Apr 12;64(7):1204-8. doi: 10.1212/01.WNL.0000156516.77696.5A.