General Information of Disease (ID: DIS9M0JX)

Disease Name Cognitive impairment with or without cerebellar ataxia
Synonyms CIAT; cognitive impairment with or without cerebellar ataxia
Disease Hierarchy
DISYKSRF: Genetic disease
DIS9M0JX: Cognitive impairment with or without cerebellar ataxia
Disease Identifiers
MONDO ID
MONDO_0013680
UMLS CUI
C3280415
OMIM ID
614306
MedGen ID
482045

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
SCN8A TT54ERL Strong Biomarker [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SCN8A DTIMSBJ Definitive 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
SCN8A OT0JGIZN Definitive Autosomal dominant [2]
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References

1 Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13.
2 Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet. 2006 Jun;43(6):527-30. doi: 10.1136/jmg.2005.035667. Epub 2005 Oct 19.