Epilepsy, progressive myoclonic, 4, with or without renal failure

Preferred Label : Epilepsy, progressive myoclonic, 4, with or without renal failure;

Symbol : EPM4;

CISMeF acronym : AMRF; EPM4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Action myoclonus-renal failure syndrome; Myoclonus-nephropathy syndrome; AMRF;

Description : The action myoclonus-renal failure syndrome is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the scavenger receptor class B, member 2 gene (SCARB2, 602257.0001);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #254900;

Details

Origin ID

254900;

UMLS CUI

C0751779;

Currated CISMeF NLP mapping
- Action Myoclonus-Renal Failure Syndrome [MeSH concept]
- Action myoclonus renal failure syndrome (disorder) [SNOMED CT concept]
- Action myoclonus-renal failure syndrome [ORDO Disease]
- progressive myoclonus epilepsy 4 [DO Concept]
DO Cross reference
- progressive myoclonus epilepsy 4 [DO Concept]
Genes related to phenotype
- Scavenger receptor class b, member 2 [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Gait ataxia [HPO term]
- Generalized-onset seizure [HPO term]
- Glomerulopathy [HPO term]
- Infrequent generalized seizures [HPO term]
- Intention tremor [HPO term]
- Myoclonus [HPO term]
- Nephropathy [HPO term]
- Nephrotic syndrome [HPO term]
- Postural tremor [HPO term]
- Proteinuria [HPO term]
- Rapidly progressive [HPO term]
- Renal insufficiency [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Mental deterioration [HPO term]
ORDO concept(s)
- Action myoclonus-renal failure syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Action Myoclonus-Renal Failure Syndrome [MeSH concept]
- Action myoclonus renal failure syndrome (disorder) [SNOMED CT concept]
- Action myoclonus-renal failure syndrome [ORDO Disease]
- progressive myoclonus epilepsy 4 [DO Concept]
Validated automatic mappings to NTBT
- myoclonic epilepsies, progressive [MeSH Descriptor]

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