Details of Disease

General Information of Disease (ID: DISC3F0L)

Disease Name Episodic ataxia type 5
Synonyms EA5; episodic ataxia, type 5; hereditary episodic ataxia caused by mutation in CACNB4; CACNB4 hereditary episodic ataxia
Definition Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.
Disease Hierarchy
DISC4ZQW: Hereditary episodic ataxia
DISC3F0L: Episodic ataxia type 5
Disease Identifiers
MONDO ID
MONDO_0013464
UMLS CUI
C1866039
OMIM ID
613855
MedGen ID
356142
Orphanet ID
211067
SNOMED CT ID
718756005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNB4 DTV8E46 Supportive Autosomal dominant [1]
CACNB4 DTV8E46 moderate Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNB4 OTYAI1UO Supportive Autosomal dominant [1]
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References

1 Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 2000 May;66(5):1531-9. doi: 10.1086/302909. Epub 2000 Apr 4.
2 Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity.J Neurol. 2008 Jul;255(7):1097-9. doi: 10.1007/s00415-008-0844-4. Epub 2008 May 2.