Progressive myoclonic epilepsy type 3
Synonyms: EPM3 · PME type 3 · Progressive myoclonic epilepsy due to KCTD7 deficiency · Progressive myoclonus epilepsy type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare epilepsy syndrome characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy type 3 | EPM3 · PME type 3 · Progressive myoclonic epilepsy due to KCTD7 deficiency · Progressive myoclonus epilepsy type 3 |
| fr | Epilepsie myoclonique progressive type 3 | EMP type 3 · EPM3 · Epilepsie myoclonique progressive par déficit en KCTD7 · PME type 3 |
| de | Myoklonische Epilepsie, progressive, Typ 3 | EPM3 · Myoklonusepilepsie, progressive, Typ 3 · Myoklonusepilepsie, progressive, durch KCTD7-Mangel · PME Typ 3 |
| es | Epilepsia mioclónica progresiva tipo 3 | EMP tipo 3 · EPM3 · Epilepsia mioclónica progresiva por deficiencia de KCTD7 · Epilepsia progresiva con mioclonías tipo 3 |
| it | Epilessia mioclonica progressiva tipo 3 | EPM3 · Epilessia mioclonica progressiva da deficit di KCTD7 · Epilessia progressiva da mioclono, tipo 3 · PME, tipo 3 |
| nl | Progressieve myoclonische epilepsie type 3 | EPM3 · PME type 3 · Progressieve myoclonische epilepsie door KCTD7-deficiëntie · Progressieve myoclonusepilepsie type 3 |
| pt | Epilepsia mioclónica progressiva tipo 3 | EPM3 · Epilepsia de mioclonias progressiva tipo 3 · PME tipo 3 |
| pl | Postępująca padaczka miokloniczna typu 3 | EPM3 · PME typu 3 · Postępująca padaczka miokloniczna z powodu niedoboru KCTD7 |
| cs | Progresivní myoklonická epilepsie, typ 3 | EPM3 · PME typ 3 · Progresivní myoklonická epilepsie způsobená deficitem KCTD7 |
| uk | Прогресуюча міоклонічна епілепсія, тип 3 | EPM3 · PME тип 3 · Прогресуюча міоклонічна епілепсія внаслідок дефіциту KCTD7 · Прогресуюча міоклонусна епілепсія типу 3 |
| zh | 进行性肌阵挛癫痫3型 | KCTD7基因缺陷所致进行性肌阵挛癫痫 |
| tr | İlerleyici miyoklonik epilepsi tip 3 | EPM3 · PME tip 3 · CLN14 hastalığı · İlerleyici miyoklonus epilepsisi tip 3 · KCTD7 eksikliğine bağlı ilerleyici miyoklonik epilepsi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611726 | NTBT | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.41 | NTBT | index | validated |
| MONDO | 0012721 | E | validated | |
| MeSH | C567095 | E | validated | |
| UMLS | C2673257 | E | validated | |
| GARD | 2167 | 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 (3):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCTD7 | Disease-causing germline mutation(s) in | Assessed | HGNC:21957 | ENSG00000243335 | 611725 | 7q11.21 | potassium channel tetramerization domain containing 7 | 22693283[PMID]_22748208[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 families | Worldwide | Family(ies) | Validated | 22693283[PMID]_22748208[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22693283[PMID]_22748208[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
22 annotations · validated 2019-02-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0011188 | Focal EEG discharges with secondary generalization | |
| HP:0011166 | Focal myoclonic seizure | Diagnostic criterion |
| HP:0001249 | Intellectual disability | |
| HP:0001336 | Myoclonus | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0007221 | Progressive truncal ataxia | |
| Occasional (29-5%) | ||
| HP:0000504 | Abnormality of vision | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0012462 | Chin myoclonus | |
| HP:0000726 | Dementia | |
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0045084 | Limb myoclonus | |
| HP:0000252 | Microcephaly | |
| HP:0000648 | Optic atrophy | |
| HP:0001327 | Photomyoclonic seizures | |
| HP:0002073 | Progressive cerebellar ataxia | |
Annotation source: 17455289[PMID]_22693283[PMID]_22748208[PMID]_27083890[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263516
- This record as JSON: /data/d/263516.json