raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:714410

CARD8-related inflammatory bowel disease

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

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enCARD8-related inflammatory bowel disease
frMaladie inflammatoire de l'intestin associée à CARD8
deCARD8-bedingte entzündliche Darmerkrankungen
esEnfermedad inflamatoria intestinal asociada a CARD8
itMalattia infiammatoria dell’intestino correlata a CARD8
nlCARD8-gerelateerde inflammatoire darmziekte
ptCARD8-related inflammatory bowel disease
plNieswoiste zapalenie jelit związane z CARD8
csCARD8-related inflammatory bowel disease
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM619079Evalidated
ICD-10K52.8NTBTattributedvalidated

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
CARD8Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:17057ENSG0000010548360905119q13.33caspase recruitment domain family member 829408806[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families4 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