Myoclonus, familial, 1

Preferred Label : Myoclonus, familial, 1;

Symbol : MYOCL1;

CISMeF acronym : FCM; MYOCL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myoclonus, familial cortical; FCM;

Description : Familial cortical myoclonus is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nucleolar protein-3 gene (NOL3, 605235.0001);

Prefixed ID : #614937;

Détails

Origin ID

614937;

UMLS CUI

C3539916;

Automatic exact mappings (from CISMeF team)
- foix chavany marie syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Familial cortical myoclonus [ORDO Disease]
- Familial myoclonus of cerebral cortex (disorder) [SNOMED CT concept]
False automatic mappings
- FCM Regimen [NCIt concept]
- Ferric Carboxymaltose Solution [NCIt concept]
Genes related to phenotype
- Nucleolar protein 3 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Falls [HPO term]
- Frequent falls [HPO term]
- Myoclonus [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Familial cortical myoclonus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial cortical myoclonus [ORDO Disease]
- Familial myoclonus of cerebral cortex (disorder) [SNOMED CT concept]

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