EA4
MCID: EPS037
MIFTS: 29
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Episodic Ataxia, Type 4 (EA4)
Categories:
Ear diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Episodic Ataxia, Type 4:
Name: Episodic Ataxia, Type 4
56
71
Characteristics:Orphanet epidemiological data:58
episodic ataxia type 4
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
age of onset 30 to 60 years symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours attacks are not responsive to acetazolamide HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Neuronal diseases Eye diseases Ear diseases
ICD10:
33
Orphanet: 58
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Disease Ontology :
12
An episodic ataxia that is characterized by vertigo and diplopia.
MalaCards based summary : Episodic Ataxia, Type 4, also known as episodic ataxia type 4, is related to machado-joseph disease and seizures, benign familial neonatal, 1, and has symptoms including ataxia, vertigo and tinnitus. An important gene associated with Episodic Ataxia, Type 4 is RERGL (RERG Like). Related phenotypes are ataxia and vertigo
More information from OMIM:
606552
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Human phenotypes related to Episodic Ataxia, Type 4:58 31 (show all 14)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:606552UMLS symptoms related to Episodic Ataxia, Type 4:ataxia, vertigo, tinnitus, nausea, muscle spasticity |
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Articles related to Episodic Ataxia, Type 4:
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Search
GEO
for disease gene expression data for Episodic Ataxia, Type 4.
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Cellular components related to Episodic Ataxia, Type 4 according to GeneCards Suite gene sharing:
Biological processes related to Episodic Ataxia, Type 4 according to GeneCards Suite gene sharing:
Molecular functions related to Episodic Ataxia, Type 4 according to GeneCards Suite gene sharing:
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