ORPHA:530298
Progressive myoclonic epilepsy with neuroserpin inclusion bodies
Synonyms: Early onset familial encephalopathy with neuroserpin inclusion bodies
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Adult
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy with neuroserpin inclusion bodies | Early onset familial encephalopathy with neuroserpin inclusion bodies |
| fr | Epilepsie myoclonique progressive à corps d'inclusion de neuroserpine | Encéphalopathie familiale à corps d'inclusion de neuroserpine à début précoce |
| de | Progressive myoklonische Epilepsie mit Neuroserpin-Einschlusskörperchen | Früh beginnende familiäre Enzephalopathie mit Neuroserpin-Einschlusskörperchen |
| es | Epilepsia mioclónica progresiva con cuerpos de inclusión de neuroserpina | Encefalopatía familiar con cuerpos de inclusión de neuroserpina de inicio precoz |
| it | Epilessia mioclonica progressiva con corpi inclusi di neuroserpina | |
| nl | Progressieve myoclonische epilepsie met neuroserpine-inclusielichamen | Vroeg aanvangende familiale encefalopathie met neuroserpine-inclusielichamen |
| pt | Epilepsia mioclónica progressiva com neuroserpina nos corpos de inclusão | |
| pl | Postępująca padaczka miokloniczna z ciałkami inkluzyjnymi neuroserpiny | Rodzinna wczesna padaczka miokloniczna z ciałkami inkluzyjnymi neuroserpiny |
| cs | Progresivní myoklonická epilepsie s neuroserpinovými inkluzními tělísky | Familiární encefalopatie s časným nástupem s neuroserpinovými inkluzními tělísky |
| uk | Прогресуюча міоклонічна епілепсія з включеннями тілець нейросерпіну | Рання сімейна енцефалопатія з тілами включення нейросерпіну |
| zh | 进行性肌阵挛性癫痫伴神经源性丝氨酸蛋白酶抑制剂包涵体 | 早发性家族性脑病伴有神经源性丝氨酸蛋白酶抑制剂包涵体 |
| tr | Nöroserpin inklüzyon cisimcikleri ile seyreden ilerleyici miyoklonik epilepsi | Nöroserpin inklüzyon cisimcikleri ile seyreden erken başlangıçlı ailesel ensefalopati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| UMLS | C5680144 | 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 (1):
- ORPHA:85110Familial encephalopathy with neuroserpin inclusion bodies
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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/530298
- This record as JSON: /data/d/530298.json