raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98740

Neurological muscular channelopathy due to a genetic calcium 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
LangNameSynonyms
enNeurological muscular channelopathy due to a genetic calcium channel defect
frCanalopathie neurologique génétique associée au canal calcique musculaire
deIonenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Kalziumkanaldefekt
esCanalopatía neurológica muscular por un defecto genético de los canales de calcio
itCanalopatia neurologica genetica da difetto genetico del canale del calcio
nlNeurologische musculaire kanalopathie door een genetisch calciumkanaaldefect
ptCanalopatia neurológica muscular por anomalia do canal de cálcio genética
plNeurologiczna kanałopatia mięśniowa z powodu genetycznego defektu kanału wapniowego
csNeurologická svalová kanálopatie způsobená genetickou poruchou vápníkového kanálu
ukНеврологічна мязова каналопатія внаслідок генетичного дефекту кальцієвих каналів
zh遗传性钙通道缺陷所致神经肌肉离子通道病
trGenetik kalsiyum kanalı defektine bağlı nörolojik kas kanalopati
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0957113Evalidated
UMLSC5681686Evalidated

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):

Children (2):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card