Epilepsy, progressive myoclonic, 10

Preferred Label : Epilepsy, progressive myoclonic, 10;

Symbol : EPM10;

CISMeF acronym : EPM10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PR domain-containing protein 8 gene (PRDM8, 616639.0001);

Prefixed ID : #616640;

Details

Origin ID

616640;

UMLS CUI

C4225258;

Automatic exact mappings (from CISMeF team)
- PRDM8-related progressive myoclonus epilepsy [ORDO Disease]
Currated CISMeF NLP mapping
- progressive myoclonus epilepsy 10 [DO Concept]
DO Cross reference
- progressive myoclonus epilepsy 10 [DO Concept]
Genes related to phenotype
- Pr domain-containing protein 8 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- Generalized myoclonic seizure [HPO term]
- Hallucinations [HPO term]
- Hyperreflexia [HPO term]
- Lafora bodies [HPO term]
- Mutism [HPO term]
- Myoclonus [HPO term]
- Paranoia [HPO term]
- Progressive [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Psychosis [HPO term]
- Seizure [HPO term]
- Spastic ataxia [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Urinary incontinence [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- PRDM8-related progressive myoclonus epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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