Epilepsy, progressive myoclonic, 1b

Preferred Label : Epilepsy, progressive myoclonic, 1b;

Symbol : EPM1B;

CISMeF acronym : EPM1B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the prickle-like 1 gene (PRICKLE1, 608500.0001);

Prefixed ID : #612437;

Details

Origin ID

612437;

UMLS CUI

C2676254;

Automatic exact mappings (from CISMeF team)
- Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia [MeSH Supplementary Concept]
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia [MeSH concept]
- Progressive myoclonus epilepsy with ataxia (disorder) [SNOMED CT concept]
- progressive myoclonus epilepsy 1B [DO Concept]
DO Cross reference
- progressive myoclonus epilepsy 1B [DO Concept]
Genes related to phenotype
- Prickle planar cell polarity protein 1 [OMIM gene]
HPO term(s)
- Atonic seizure [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Generalized myoclonic seizure [HPO term]
- Progressive [HPO term]
- Sensory axonal neuropathy [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
See also inter- (CISMeF)
- PRICKLE1 wt Allele [NCIt concept]
- prickle planar cell polarity protein 1 [ORDO Gene]
- prickle planar cell polarity protein 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia [MeSH concept]
- Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia [MeSH Supplementary Concept]
- Progressive epilepsy and/or ataxia with myoclonus as a major feature [ORDO Disease]
- Progressive myoclonus epilepsy with ataxia (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- progressive myoclonus epilepsy [DO Concept]

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