ORPHA:231117

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

This disease is described under Beckwith-Wiedemann syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
fr	Syndrome de Beckwith-Wiedemann dû à un défaut d'empreinte de la région 11p15
de	Beckwith-Wiedemann-Syndrom durch Imprintingdefekt von 11p15
es	Síndrome de Beckwith-Wiedemann por defectos de impronta de la región 11p15
it	Sindrome di Beckwith-Wiedemann da difetto dell'imprinting di 11p15
nl	Syndroom van Beckwith-Wiedemann door imprintingsdefect van 11p15
pt	Síndrome de Beckwith-Wiedemann por defeito no 'imprinting' de 11q15
pl	Zespół Beckwitha i Wiedemanna z powodu defektu imprintingu 11p15
cs	Beckwithův-Wiedemannův syndrom způsobený poruchou imprintingu 11p15	Beckwith-Wiedemannův syndrom způsobený poruchou imprintingu 11p15
uk	Синдром Беквіта-Відемана, зумовлений дефектом імпринтингу 11р15
zh	11p15印迹缺陷所致Beckwith-Wiedemann综合征
tr	11p15'in imprinting defektine bağlı Beckwith-Wiedemann sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q87.3	NTBT	attributed	validated
ICD-11	LD2C	NTBT	attributed	validated
MONDO	0016475	E		validated
UMLS	C5680922	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

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.

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
H19	Role in the phenotype of	Assessed	HGNC:4713	ENSG00000130600	103280	11p15.5	H19 imprinted maternally expressed transcript	21863054[PMID]_20803657[PMID]_20301568[PMID]
IGF2	Role in the phenotype of	Assessed	HGNC:5466	ENSG00000167244	147470	11p15.5	insulin like growth factor 2	21863054[PMID]_20803657[PMID]_20301568[PMID]
KCNQ1OT1	Role in the phenotype of	Assessed	HGNC:6295	ENSG00000269821	604115	11p15.5	KCNQ1 opposite strand/antisense transcript 1	12019213[PMID]_20803657[PMID]_20301568[PMID]

0 records

No prevalence record in this release.

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