ORPHA:98742
Neurological muscular channelopathy due to a genetic ryanodine 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 muscular channelopathy due to a genetic ryanodine receptor defect | |
| fr | Canalopathie neurologique génétique associée au recepteur musculaire de la ryanodine | |
| de | Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Ryanodin-Rezeptordefekt | |
| es | Canalopatía neurológica muscular por un defecto genético del receptor de rianodina | |
| it | Canalopatia neurologica muscolare da difetto genetico del recettore rianodinico | |
| nl | Neurologische musculaire kanalopathie door een genetisch ryanodinereceptordefect | |
| pt | Canalopatia neurológica muscular por anomalia do canal de rianodina genética | |
| pl | Neurologiczna kanałopatia mięśniowa z powodu genetycznego defektu receptora rianodynowego | |
| cs | Neurologická svalová kanálopatie způsobená genetickou poruchou ryanodinového receptoru | |
| uk | Неврологічна мязова каналопатія внаслідок генетичного дефекту рецепторів рианодину | |
| zh | 遗传性RyR受体缺陷所致神经肌肉离子通道病 | |
| tr | Genetik ryanodin reseptör defektine bağlı nörolojik kas kanalopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0957115 | E | validated | |
| UMLS | C5681684 | 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:98737Genetic neurological muscular channelopathy
rare genetic diseases; rare neurological diseases
Children (8):
- ORPHA:169186Autosomal recessive centronuclear myopathy
- ORPHA:324581Benign Samaritan congenital myopathy
- ORPHA:597Central core disease
- ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:424107Congenital myopathy with myasthenic-like onset
- ORPHA:99741King-Denborough syndrome
- ORPHA:423Malignant hyperthermia of anesthesia
- ORPHA:178145Moderate multiminicore disease with hand involvement
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98742
- This record as JSON: /data/d/98742.json