Myoclonic epilepsy, familial infantile

Preferred Label : Myoclonic epilepsy, familial infantile;

Symbol : FIME;

CISMeF acronym : EIM; FIME;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIM;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0001);

Prefixed ID : #605021;

Details

Origin ID

605021;

UMLS CUI

C0917800;

Automatic exact mappings (from CISMeF team)
- Drug-Related side effects and adverse reactions [MeSH Descriptor]
- Electrical Impedance Myography [NCIt concept]
- Etoposide/Ifosfamide [NCIt concept]
- Fluorouracil/Razoxane/Semustine [NCIt concept]
- metabolism, inborn errors [MeSH Descriptor]
Broader ORDO disease(s)
- Myoclonic epilepsy of infancy [ORDO Disease]
Currated CISMeF NLP mapping
- Familial infantile myoclonic epilepsy [ORDO Disease]
- Familial infantile myoclonic epilepsy (disorder) [SNOMED CT concept]
- Myoclonic epilepsy of infancy [ORDO Disease]
- epilepsy, myoclonic, infantile [MeSH concept]
Genes related to phenotype
- Tbc1 domain family, member 24 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebrovascular accident [HPO term]
- Dysarthria [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Focal-onset seizure [HPO term]
- Generalized myoclonic seizure [HPO term]
- Infantile onset [HPO term]
- Myoclonic seizures, frequent, long-lasting [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Familial infantile myoclonic epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial infantile myoclonic epilepsy [ORDO Disease]
- Familial infantile myoclonic epilepsy (disorder) [SNOMED CT concept]
- Myoclonic epilepsy of infancy [ORDO Disease]
- epilepsy, myoclonic, infantile [MeSH concept]

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