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alternating hemiplegia of childhood 1
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.
Uniprot Description A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.
Mondo Term and Equivalent IDs
MONDO:0007087: alternating hemiplegia of childhood 1
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:104290
UMLS:C3549447
MONDO:0007087
High level summary of knowledge for a disease, including descriptions and datasource references.