Convulsions, familial infantile, with paroxysmal choreoathetosis

Preferred Label : Convulsions, familial infantile, with paroxysmal choreoathetosis;

Symbol : ICCA;

CISMeF acronym : ICCA; PKD/IC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Paroxysmal kinesigenic dyskinesia with infantile convulsions; Infantile convulsions and paroxysmal choreoathetosis, familial; PKD/IC; Icca syndrome;

Description : Benign familial infantile convulsions (BFIC; see 601764) is an autosomal dominant disorder characterized by afebrile seizures occurring between 3 and 12 months of age. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. The ICCA syndrome shares overlapping clinical features with benign familial infantile seizures-2 (BFIS2; 605751) and episodic kinesigenic dyskinesia-1 (EKD1; 128200), which are allelic disorders. See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to 16p.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the proline-rich transmembrane protein 2 gene (PRRT2, 614386.0001).;

Prefixed ID : #602066;

Détails

Origin ID

602066;

UMLS CUI

C1865926;

Automatic exact mappings (from CISMeF team)
- Infantile convulsions or choreoathetosis [ICD-11 More detail]
- Intrahepatic Cholangiocarcinoma [NCIt concept]
- symbol withdrawn ICCA [HGNC gene]
Currated CISMeF NLP mapping
- Infantile Convulsions and Paroxysmal Choreoathetosis, Familial [NCIt concept]
- Infantile convulsion and choreoathetosis syndrome (disorder) [SNOMED CT concept]
- Infantile convulsions and choreoathetosis [ORDO Disease]
- Infantile convulsions and paroxysmal choreoathetosis, familial [MeSH concept]
- infantile convulsions and paroxysmal choreoathetosis, familial [MeSH Supplementary Concept]
Genes related to phenotype
- Proline-rich transmembrane protein 2 [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Focal seizures, afebril [HPO term]
- Focal-onset seizure [HPO term]
- Generalized-onset seizure [HPO term]
- Normal interictal EEG [HPO term]
- Paroxysmal choreoathetosis [HPO term]
- Paroxysmal dystonia [HPO term]
- Secondary generalization may occur [HPO term]
- Seizures occur in clusters [HPO term]
- Seizures often begin with head and eye deviation [HPO term]
- Seizures, generalized, afebrile [HPO term]
- Seizures, partial, afebrile [HPO term]
Not associated HPO term(s)
- Neurodevelopmental abnormality [HPO term]
ORDO concept(s)
- Infantile convulsions and choreoathetosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile Convulsions and Paroxysmal Choreoathetosis, Familial [NCIt concept]
- Infantile convulsion and choreoathetosis syndrome (disorder) [SNOMED CT concept]
- Infantile convulsions and choreoathetosis [ORDO Disease]
- Infantile convulsions and paroxysmal choreoathetosis, familial [MeSH concept]
- infantile convulsions and paroxysmal choreoathetosis, familial [MeSH Supplementary Concept]

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