Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure (EPM4)

Alias:
Action Myoclonus-Renal Failure Syndrome
Myoclonus-Nephropathy Syndrome
Epm4
Amrf
Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure
Epilepsy, Progressive Myoclonic, Type 4, with or Without Renal Failure
Progressive Myoclonus Epilepsy with Renal Failure
Familial Myoclonus with Renal Failure
Progressive Myoclonic Epilepsy Type 4
Progressive Myoclonus Epilepsy Type 4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure, also known as action myoclonus-renal failure syndrome, is related to scarb2-related action myoclonus - renal failure syndrome and progressive myoclonus epilepsy 4, and has symptoms including action tremor, static tremor and myoclonus, action. An important gene associated with Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure is SCARB2 (Scavenger Receptor Class B Member 2). Affiliated tissues include kidney and tongue, and related phenotypes are proteinuria and renal insufficiency
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
<1/1000000
3
20
8

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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