ORPHA:98749
Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
- Type
- Category
- Group
- Group of disorders
- 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 | Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect | |
| fr | Canalopathie neurologique génétique associée au recepteur au GABA du système nerveux central | |
| de | Ionenkanalkrankheit des ZNS, bei genetisch bedingtem GABA-Rezeptordefekt | |
| es | Canalopatía neurológica del sistema nervioso central por un defecto genético del receptor GABA | |
| it | Canalopatia neurologica del sistema nervoso centrale da difetto genetico del recettore del GABA | |
| nl | Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van GABA-receptor | |
| pt | Canalopatia neurológica do sistema nervoso central por defeito genético do recetor GABA | |
| pl | Neurologiczna kanałopatia centralnego układu nerwowego z powodu genetycznego defektu receptora GABA | |
| cs | Kanálopatie centrálního nervového systému způsobené geneticky podmíněnou poruchou GABA-receptoru | |
| uk | Неврологічна каналопатія центральної нервової системи внаслідок генетичного дефекту ГАМК-рецепторів | |
| zh | 遗传性GABA受体缺陷所致神经离子通道病 | |
| tr | Genetik bir GABA reseptör defekti nedeniyle merkezi sinir sisteminin nörolojik kanalopatisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681702 | 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 (1):
- ORPHA:98743Genetic neurological channelopathy of the central nervous system
rare genetic diseases
Children (7):
- ORPHA:64280Childhood absence epilepsy
- ORPHA:33069Dravet syndrome
- ORPHA:36387Genetic epilepsy with febrile seizure plus
- ORPHA:307Juvenile myoclonic epilepsy
- ORPHA:2382Lennox-Gastaut syndrome
- ORPHA:442835Non-specific early-onset epileptic encephalopathy
- ORPHA:1945Self-limited epilepsy with centrotemporal spikes
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98749
- This record as JSON: /data/d/98749.json