ORPHA:86911
Epilepsy with myoclonic absences
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epilepsy with myoclonic absences | |
| fr | Epilepsie avec absences myocloniques | |
| de | Epilepsie mit myoklonischen Absencen | |
| es | Epilepsia con ausencias mioclónicas | |
| it | Epilessia con assenze miocloniche | |
| nl | Epilepsie met myoclonische absences | |
| pt | Epilepsia com ausências mioclónicas | |
| pl | Padaczka z miokloniczna z napadami nieświadomości | |
| cs | Epilepsie s myoklonickými absencemi | |
| uk | Епілепсія з міоклонічними абсансами | |
| zh | 肌阵挛失神性癫痫 | |
| tr | Miyoklonik absanslar ile seyreden epilepsi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G40.4 | NTBT | attributed | validated |
| ICD-11 | 8A61.23 | E | specific | validated |
| MONDO | 0019487 | E | validated | |
| UMLS | C0393703 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98259Childhood-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:306759Non progressive epilepsy and/or ataxia with myoclonus as a major feature
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11005 | ENSG00000117394 | 138140 | 1p34.2 | solute carrier family 2 member 1 | 26193382[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86911
- This record as JSON: /data/d/86911.json