Action myoclonus-renal failure syndrome
Synonyms: AMRF · EPM4 · Myoclonus-nephropathy syndrome · Progressive myoclonic epilepsy type 4 · Progressive myoclonus epilepsy type 4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Action myoclonus-renal failure syndrome | AMRF · EPM4 · Myoclonus-nephropathy syndrome · Progressive myoclonic epilepsy type 4 · Progressive myoclonus epilepsy type 4 |
| fr | Syndrome de myoclonus d'action-insuffisance rénale | AMRF · EPM4 · Epilepsie myoclonique progressive type 4 |
| de | Aktionsmyoklonus-Nierenversagen-Syndrom | AMRF · EPM4 · Myoklonus-Nephropathie-Syndrom · Myoklonusepilepsie, progressive, Typ 4 |
| es | Síndrome de mioclonías de acción-insuficiencia renal | AMRF · EPM4 · Epilepsia mioclónica progresiva tipo 4 · Síndrome de mioclonías-nefropatía |
| it | Sindrome da mioclono d'azione e insufficienza renale | EPM4 · Epilessia mioclonica progressiva, tipo 4 · Sindrome mioclono-neuropatia |
| nl | Actiemyoclonus - nierfalen-syndroom | AMRF · EPM4 · Myoclonus - nefropathie-syndroom · Progressieve myoclonische epilepsie type 4 · Progressive myoclonusepilepsie type 4 |
| pt | Síndrome mioclonias de ação - insuficiência renal | |
| pl | Zespół mioklonii prowokowanych ruchem i niewydolności nerek | EPM4 · Postępująca padaczka miokloniczna typu 4 · Zespół mioklonii i nefropatii |
| cs | Syndrom zahrnující akční myoklonus a ledvinné selhání | EPM4 · Syndrom zahrnující myoklonus a nefropatii · Progresivní myoklonická epilepsie, typ 4 |
| uk | Синдром рухового міоклонусу-ниркової недостатності | AMRF · EPM4 · Синдром міоклонус-нефропатії · Прогресуюча міоклонічна епілепсія типу 4 · Прогресуюча міоклонусна епілепсія типу 4 |
| zh | 渐进型肌阵挛癫痫4，有或无肾功能衰竭 | 进行性肌阵挛癫痫4型 |
| tr | Aksiyon miyoklonus-böbrek yetmezliği sendromu | AMRF · EPM4 · Miyoklonus-nefropati sendromu · İlerleyici miyoklonik epilepsi tip 4 · İlerleyici miyoklonus epilepsi tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254900 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | not yet validated |
| ICD-11 | GB4Z | NTBT | index | validated |
| MONDO | 0009699 | E | validated | |
| UMLS | C0751779 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCARB2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1665 | ENSG00000138760 | 602257 | 4q21.1 | scavenger receptor class B member 2 | 26677510[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 38 cases | Worldwide | Case(s) | Validated | 26677510[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26677510[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163696
- This record as JSON: /data/d/163696.json