Progressive myoclonic epilepsy type 5
Synonyms: EPM5 · PME type 5 · Progressive myoclonus epilepsy type 5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent
- Status
- active
A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy type 5 | EPM5 · PME type 5 · Progressive myoclonus epilepsy type 5 |
| fr | Epilepsie myoclonique progressive type 5 | EMP type 5 · EPM5 · PME type 5 |
| de | Myoklonusepilepsie, progressive, Typ 5 | EPM5 · PME Typ 5 |
| es | Epilepsia mioclónica progresiva tipo 5 | EMP tipo 5 · EPM5 · Epilepsia progresiva con mioclonías tipo 5 |
| it | Epilessia mioclonica progressiva, tipo 5 | EPM5 · Epilessia progressiva con mioclonie, tipo 5 · PME, tipo 5 |
| nl | Progressieve myoclonische epilepsie type 5 | EPM5 · PME type 5 · Progressieve myoclonusepilepsie type 5 |
| pt | Epilepsia mioclónica progressiva, tipo 5 | |
| pl | Postępująca padaczka miokloniczna typu 5 | EPM5 · PME typu 5 |
| cs | Progresivní myoklonická epilepsie, typ 5 | EPM5 · PME typ 5 |
| uk | Прогресуюча міоклонічна епілепсія, тип 5 | EPM5 · PME тип 5 · Прогресуюча міоклонусна епілепсія типу 5 |
| zh | 进行性肌阵挛性癫痫5型 | 进行性肌阵挛性癫痫5型 |
| tr | ilerleyici miyoklonik epilepsi tip 5 | EPM5 · PME tip 5 · İlerleyici miyoklonus epilepsi tip 5 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607459 | NTBT | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| UMLS | C5190799 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLG | Candidate gene tested in | Assessed | HGNC:9179 | ENSG00000140521 | 174763 | 15q26.1 | DNA polymerase gamma, catalytic subunit | 26942291[PMID] |
| PRICKLE2 | Candidate gene tested in | Not yet assessed | HGNC:20340 | ENSG00000163637 | 608501 | 3p14.1 | prickle planar cell polarity protein 2 | 21276947[PMID]_26942291[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 21276947[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21276947[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/402082
- This record as JSON: /data/d/402082.json