ORPHA:98746
Neurological channelopathy of the central nervous system due to a genetic potassium channel 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 potassium channel defect | |
| fr | Canalopathie neurologique génétique associée au canal potassique du système nerveux central | |
| de | Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Kaliumkanaldefekt | |
| es | Canalopatía neurológica del sistema nervioso central por un defecto genético de los canales de potasio | |
| it | Canalopatia neurologica del sistema nervoso centrale da difetto genetico del canale del potassio | |
| nl | Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van kaliumkanaal | |
| pt | Canalopatia neurológica do sistema nervoso central por defeito genético do canal de potássio | |
| pl | Neurologiczna kanałopatia centralnego układu nerwowego z powodu genetycznego defektu kanału potasowego | |
| cs | Kanálopatie centrálního nervového systému způsobené geneticky podmíněnou poruchou draslíkového kanálu | |
| uk | Неврологічна каналопатія центральної нервової системи внаслідок генетичного дефекту калієвих каналів | |
| zh | 遗传性钙通道缺陷所致神经离子通道病 | |
| tr | Genetik potasyum kanalı bozukluğuna bağlı merkezi sinir sisteminin nörolojik kanalopatisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681708 | 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 (17):
- ORPHA:166108Birk-Barel syndrome
- ORPHA:199343EAST syndrome
- ORPHA:1934Early infantile developmental and epileptic encephalopathy
- ORPHA:37612Episodic ataxia type 1
- ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndrome
- ORPHA:664438Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
- ORPHA:439218KCNQ2-related developmental and epileptic encephalopathy
- ORPHA:435628Keppen-Lubinsky syndrome
- ORPHA:442835Non-specific early-onset epileptic encephalopathy
- ORPHA:98809Paroxysmal kinesigenic dyskinesia
- ORPHA:435438Progressive myoclonic epilepsy type 7
- ORPHA:306Self-limited infantile epilepsy
- ORPHA:1949Self-limited neonatal epilepsy
- ORPHA:140927Self-limited neonatal/infantile epilepsy
- ORPHA:98784Sleep-related hypermotor epilepsy
- ORPHA:98768Spinocerebellar ataxia type 13
- ORPHA:98772Spinocerebellar ataxia type 19/22
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/98746
- This record as JSON: /data/d/98746.json