Progressive myoclonic epilepsy type 6
Synonyms: EPM6 · GOSR2-related progressive myoclonus ataxia · North Sea progressive myoclonus epilepsy · PME type 6 · Progressive myoclonus epilepsy type 6
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy type 6 | EPM6 · GOSR2-related progressive myoclonus ataxia · North Sea progressive myoclonus epilepsy · PME type 6 · Progressive myoclonus epilepsy type 6 |
| fr | Epilepsie myoclonique progressive type 6 | EMP type 6 · EPM6 · Epilepsie myoclonique progressive associée à GOSR2 · PME type 6 |
| de | Myoklonusepilepsie, progressive, Typ 6 | EPM6 · GOSR2-abhängige progressive myoklonische Ataxie · Myoklonusepilepsie, progressive, Nordsee-Typ · PME Typ 6 |
| es | Epilepsia mioclónica progresiva tipo 6 | Ataxia mioclónica progresiva asociada a GOSR2 · Ataxia mioclónica progresiva del mar del Norte · EMP tipo 6 · EPM6 · Epilepsia progresiva con mioclonías tipo 6 |
| it | Epilessia mioclonica progressiva, tipo 6 | Atassia progressiva da mioclono GOSR2-correlata · EPM6 · Epilessia progressiva da mioclono del Mar del Nord · Epilessia progressiva da mioclono, tipo 6 · PME, tipo 6 |
| nl | Progressieve myoclonische epilepsie type 6 | EPM6 · GOSR2-gerelateerde progressieve myoclonusataxie · Noordzee progressieve myoclonusepilepsie · PME type 6 · Progressieve myoclonusepilepsie type 6 |
| pt | Epilepsia mioclónica progressiva tipo 6 | |
| pl | Postępująca padaczka miokloniczna typu 6 | EPM6 · PME typu 6 · Postępująca padaczka miokloniczna Morza Północnego · Postępująca padaczka miokloniczna zależna od GOSR2 |
| cs | Progresivní myoklonická epilepsie, typ 6 | EPM6 · GOSR2-vázaná progresivní myoklonická ataxie · PME, typ VI · Progresivní myoklonus a epilepsie, typ VI · Severomořská progresivní myoklonická epilepsie |
| uk | Прогресуюча міоклонічна епілепсія, тип 6 | EPM6 · Прогресуюча міоклонусна атаксія, повязана з GOSR2 · Північно-морська прогресивна міоклонусна епілепсія · PME тип 6 · Прогресуюча міоклонусна епілепсія типу 6 |
| zh | 进行性肌痉挛6型 | GOSR2相关进行性肌痉挛癫痫 |
| tr | İlerleyici miyoklonik epilepsi tip 6 | EPM6 · PME tip 6 · İlerleyici miyoklonus epilepsi tip 6 · Kuzey Denizi ilerleyici miyoklonus epilepsisi · GOSR2-ilişkili ilerleyici miyoklonus ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614018 | E | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.41 | NTBT | index | validated |
| MONDO | 0013526 | E | validated | |
| UMLS | C5190805 | E | validated | |
| GARD | 3872 | 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 (1):
- ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GOSR2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4431 | ENSG00000108433 | 604027 | 17q21.32 | golgi SNAP receptor complex member 2 | 21549339[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 21549339[PMID]_23449775[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21549339[PMID]_23449775[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/280620
- This record as JSON: /data/d/280620.json