Alternating hemiplegia of childhood 1

Preferred Label : Alternating hemiplegia of childhood 1;

Symbol : AHC1;

CISMeF acronym : AHC1;

Type : Phenotype, molecular basis known;

Description : Alternating hemiplegia of childhood is 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 (Mikati et al., 1992). The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; 141500) and GLUT1 deficiency syndrome (606777) (Rotstein et al., 2009). - Genetic Heterogeneity of Alternating Hemiplegia of Childhood See also AHC2 (614820), caused by mutation in the ATP1A3 gene (182350).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Na K transporting, alpha-2 polypeptide gene (ATP1A2, 182340.0005);

Prefixed ID : #104290;

Détails

Origin ID

104290;

UMLS CUI

C3549447;

Automatic exact mappings (from CISMeF team)
- Alternating hemiplegia of childhood [ICD-11 More detail]
- Alternating hemiplegia of childhood [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Alternating hemiplegia of childhood [ORDO Disease]
- Alternating hemiplegia of childhood [MeSH concept]
- Alternating hemiplegia of childhood (disorder) [SNOMED CT concept]
- alternating hemiplegia of childhood [DO Concept]
- alternating hemiplegia of childhood [MeSH Supplementary Concept]
DO Cross reference
- alternating hemiplegia of childhood [DO Concept]
Genes related to phenotype
- Atpase, na+/k+ transporting, alpha-2 polypeptide [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Choreoathetosis [HPO term]
- Dystonia [HPO term]
- Episodic hemiplegia [HPO term]
- Episodic quadriplegia [HPO term]
- Intellectual disability [HPO term]
- Mental deterioration [HPO term]
- Nystagmus [HPO term]
- Quadriplegia [HPO term]
- Tetraplegia [HPO term]
Not associated HPO term(s)
- Headache [HPO term]
ORDO concept(s)
- Alternating hemiplegia of childhood [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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