Epilepsy, familial adult myoclonic, 7

Preferred Label : Epilepsy, familial adult myoclonic, 7;

Symbol : FAME7;

CISMeF acronym : BAFME7; FAME7; FCMTE7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Benign adult familial myoclonic epilepsy 7; Cortical myoclonic tremor with epilepsy, familial, 7; BAFME7; FCMTE7;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a 5-bp repeat expansion (TTTCA)n in the RAP guanine nucleotide exchange factor-2 gene (RAPGEF2, 609530.0001);

Prefixed ID : #618075;

Details

Origin ID

618075;

UMLS CUI

C4748080;

Automatic exact mappings (from CISMeF team)
- familial adult myoclonic epilepsy 7 [DO Concept]
DO Cross reference
- familial adult myoclonic epilepsy 7 [DO Concept]
Genes related to phenotype
- Rap guanine nucleotide exchange factor 2 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Myoclonic tremor [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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