Alternating hemiplegia of childhood 2

Preferred Label : Alternating hemiplegia of childhood 2;

Symbol : AHC2;

CISMeF acronym : AHC2;

Type : Phenotype, molecular basis known;

Description : Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012). For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (104290).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Na K transporting, alpha-3 polypeptide gene (ATP1A3, 182350.0009);

Prefixed ID : #614820;

Details

Origin ID

614820;

UMLS CUI

C3553788;

Automatic exact mappings (from CISMeF team)
- ATP1A3 wt Allele [NCIt concept]
DO Cross reference
- alternating hemiplegia of childhood [DO Concept]
Genes related to phenotype
- Atpase, na+/k+ transporting, alpha-3 polypeptide [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Choreoathetosis [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Episodic quadriplegia [HPO term]
- Global developmental delay [HPO term]
- Hemiplegia [HPO term]
- Intellectual disability [HPO term]
- Mental deterioration [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
- Tetraplegia [HPO term]
ORDO concept(s)
- Alternating hemiplegia of childhood [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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