ORPHA:98261
Progressive myoclonic epilepsy
Synonyms: Progressive myoclonus epilepsy · PME
- Type
- Clinical group
- Group
- Group of disorders
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy | Progressive myoclonus epilepsy · PME |
| fr | Epilepsie myoclonique progressive | EMP |
| de | Myoklonusepilepsie, progressive | PME |
| es | Epilepsia mioclónica progresiva | PME |
| it | Epilessia mioclonica progressiva | PME |
| nl | Progressieve myoclonische epilepsie | PME |
| pt | Epilepsia, mioclonia progressiva | |
| pl | Postępująca padaczka miokloniczna | PME |
| cs | Progresivní myoklonické epilepsie | PME |
| uk | Прогресуюча міоклонічна епілепсія | PME · Прогресуюча міоклонусна епілепсія |
| zh | 进行性肌阵挛性癫痫 | 进行性肌阵挛癫痫 |
| tr | İlerleyici miyoklonik epilepsi | PME · İlerleyici miyoklonus epilepsisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8A61.41 | E | specific | validated |
| MONDO | 0020074 | E | validated | |
| MeSH | D020191 | E | validated | |
| UMLS | C0751778 | E | validated | |
| GARD | 7140 | E | validated | |
| MedDRA | 10089676 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:306756Epilepsy and/or ataxia with myoclonus as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:699645Variable age-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
Children (22):
- ORPHA:228329CLN1 disease
- ORPHA:314629CLN11 disease
- ORPHA:314632CLN12 disease
- ORPHA:352709CLN13 disease
- ORPHA:228349CLN2 disease
- ORPHA:228343CLN4 disease
- ORPHA:228360CLN5 disease
- ORPHA:228363CLN6 disease
- ORPHA:228366CLN7 disease
- ORPHA:228354CLN8 disease
- ORPHA:85110Familial encephalopathy with neuroserpin inclusion bodies
- ORPHA:501Lafora disease
- ORPHA:551MERRF
- ORPHA:324290PRDM8-related progressive myoclonus epilepsy
- ORPHA:308Progressive myoclonic epilepsy type 1
- ORPHA:263516Progressive myoclonic epilepsy type 3
- ORPHA:402082Progressive myoclonic epilepsy type 5
- ORPHA:280620Progressive myoclonic epilepsy type 6
- ORPHA:435438Progressive myoclonic epilepsy type 7
- ORPHA:424027Progressive myoclonic epilepsy type 8
- ORPHA:457265Progressive myoclonic epilepsy type 9
- ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:306762OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98261
- This record as JSON: /data/d/98261.json