raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:231120

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant
Age of onset
Infancy, Neonatal
Status
active

This disease is described under Beckwith-Wiedemann syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enBeckwith-Wiedemann syndrome due to CDKN1C mutation
frSyndrome de Beckwith-Wiedemann dû à une mutation de CDKN1C
deBeckwith-Wiedemann-Syndrom durch CDKN1C-Mangel
esSíndrome de Beckwith-Wiedemann por una mutación en el gen CDKN1C
itSindrome di Beckwith-Wiedemann da deficit di CDKN1C
nlSyndroom van Beckwith-Wiedemann door CDKN1C-mutatie
ptSíndrome de Beckwith-Wiedemann por deficiência no gene CDKN1C
plZespół Beckwitha i Wiedemanna z powodu mutacji CDKN1C
csBeckwithův-Wiedemannův syndrom způsobený mutací CDKN1CBeckwith-Wiedemannův syndrom způsobený mutací CDKN1C
ukСиндром Беквіта-Відемана, зумовлений мутацією CDKN1C
zhCDKN1C基因突变所致Beckwith-Wiedemann综合征
trCDKN1C mutasyonuna bağlı Beckwith-Wiedemann sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM130650NTBTvalidated
ICD-10Q87.3NTBTattributedvalidated
ICD-11LD2CNTBTattributedvalidated
MONDO0016476Evalidated
UMLSC5680918Evalidated

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:116Beckwith-Wiedemann syndrome
    rare cardiac diseases; rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare otorhinolaryngological diseases; rare neoplastic diseases; rare surgical maxillo-facial diseases; rare transplant-related disorders

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
CDKN1CDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:1786ENSG0000012975760085611p15.4cyclin dependent kinase inhibitor 1C26077438[PMID]_20803657[PMID]_20301568[PMID]
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