action myoclonus-renal failure syndrome
Findings
No curated finding names action myoclonus-renal failure syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
Definition from the Mondo Disease Ontology (MONDO:0009699), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Rapidly progressive · Early young adult onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EdemaHPOHP:0000969
- 2 of 2 reported patients
- HypoalbuminemiaHPOHP:0003073
- 2 of 2 reported patients
- MyoclonusHPOHP:0001336
- 2 of 2 reported patients
- Nephrotic syndromeHPOHP:0000100
- 2 of 2 reported patients
- Normochromic anemiaHPOHP:0001895
- 2 of 2 reported patients
- ProteinuriaHPOHP:0000093
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCARB2HGNC:1665
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: action myoclonus-renal failure syndrome
- Also called
- AMRFepilepsy, progressive myoclonic 4, with or without renal failureepilepsy, progressive myoclonic, 4, with or without renal failureEPM4myoclonus-nephropathy syndromeprogressive myoclonic epilepsy type 4