ORPHA:98738
Neurological muscular channelopathy due to a genetic sodium 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurological muscular channelopathy due to a genetic sodium channel defect | |
| fr | Canalopathie neurologique génétique associée au canal sodique musculaire | |
| de | Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Natriumkanaldefekt | |
| es | Canalopatía neurológica muscular por un defecto genético de los canales de sodio | |
| it | Canalopatia neurologica genetica da difetto genetico del canale del sodio | |
| nl | Neurologische musculaire kanalopathie door een genetisch natriumkanaaldefect | |
| pt | Canalopatia neurológica muscular por anomalia do canal de sódio genética | |
| pl | Neurologiczna kanałopatia mięśniowa z powodu genetycznego defektu kanału sodowego | |
| cs | Neurologická svalová kanálopatie způsobená genetickou poruchou sodíkového kanálu | |
| uk | Неврологічна мязова каналопатія внаслідок генетичного дефекту натрієвих каналів | |
| zh | 遗传性钠通道缺陷所致神经肌肉离子通道病 | |
| tr | Genetik sodyum kanalı defektine bağlı nörolojik kas kanalopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0957111 | E | validated | |
| UMLS | C5681681 | 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:98737Genetic neurological muscular channelopathy
rare genetic diseases; rare neurological diseases
Children (9):
- ORPHA:562528Congenital limbs-face contractures-hypotonia-developmental delay syndrome
- ORPHA:1146Distal arthrogryposis type 1
- ORPHA:2053Freeman-Sheldon syndrome
- ORPHA:682Hyperkalemic periodic paralysis
- ORPHA:681Hypokalemic periodic paralysis
- ORPHA:684Paramyotonia congenita of Von Eulenburg
- ORPHA:98913Postsynaptic congenital myasthenic syndrome
- ORPHA:612Potassium-aggravated myotonia
- ORPHA:1147Sheldon-Hall syndrome
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/98738
- This record as JSON: /data/d/98738.json