Epilepsy, progressive myoclonic 7

Preferred Label : Epilepsy, progressive myoclonic 7;

Symbol : EPM7;

CISMeF acronym : EPM7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated potassium channel, Shaw-related subfamily, member 1 gene (KCNC1, 176258.0001);

Prefixed ID : #616187;

Details

Origin ID

616187;

UMLS CUI

C4015420;

CISMeF manual mappings
- Progressive myoclonic epilepsy type 7 [ORDO Disease]
Currated CISMeF NLP mapping
- Epilepsy, Progressive Myoclonic 7 [NCIt concept]
- Myoclonus epilepsy and ataxia due to potassium channel mutation [MedDRA Preferred Term]
- Progressive myoclonic epilepsy type 7 (disorder) [SNOMED CT concept]
- progressive myoclonus epilepsy 7 [DO Concept]
DO Cross reference
- progressive myoclonus epilepsy 7 [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, shaw-related subfamily, member 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Mental deterioration [HPO term]
- Myoclonus [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Progressive myoclonic epilepsy type 7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, Progressive Myoclonic 7 [NCIt concept]
- Myoclonus epilepsy and ataxia due to potassium channel mutation [MedDRA Preferred Term]
- Progressive myoclonic epilepsy type 7 [ORDO Disease]
- Progressive myoclonic epilepsy type 7 (disorder) [SNOMED CT concept]
- progressive myoclonus epilepsy 7 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients