FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term progressive myoclonus epilepsy 4 ID (Ontology) DOID:0111444 (Human Disease)
Definition A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1.
Also Known As "action myoclonus-renal failure syndrome" ; "AMRF" ; "EPM4" (for all, see Synonyms field below)
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 Genes
 progressive myoclonus epilepsy 4       3
 for disease ribbon | progressive myoclonus epilepsy 4       3
 model of | progressive myoclonus epilepsy 4       3
Spanning Tree (Parents/Children)
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variable age at onset electroclinical syndrome
 |__progressive myoclonus epilepsy__
autosomal genetic disease           |
 |__autosomal recessive disease_____|
                                    progressive myoclonus epilepsy 4  3 rec.
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Is a autosomal recessive disease
progressive myoclonus epilepsy
Part of
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Synonyms
  • "action myoclonus-renal failure syndrome" EXACT
    "AMRF" EXACT OMO:0003012
    "EPM4" EXACT OMO:0003012
    "Myoclonus-nephropathy syndrome" EXACT
Secondary IDs
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MESH:D020191
MIM:254900
ORDO:163696
SNOMEDCT_US_2023_03_01:764453009
UMLS_CUI:C0751779