raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:726788

Calcium release deficiency syndrome

Synonyms: CRDS

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant
Age of onset
Adolescent, Adult, Childhood
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enCalcium release deficiency syndromeCRDS
frSyndrome du déficit de la libération du calcium= en
deKalziumfreisetzungsmangel-Syndrom= en
esSíndrome de deficiencia en la liberación de calcio= en
itSindrome da deficit di rilascio del calcio= en
nlSyndroom van deficiëntie van calciumvrijzetting= en
ptCalcium release deficiency syndrome
plCalcium release deficiency syndrome= en
csCalcium release deficiency syndrome= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM115000Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
RYR2Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:10484ENSG000001986261809021q43ryanodine receptor 233536282[PMID]_38900490[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families10 casesWorldwideCase(s)ValidatedORPHANET
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

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

7

Sources for this card