MCID: BCK012
MIFTS: 11

Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

MalaCards integrated aliases for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:

Name: Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.3
Orphanet 58 ORPHA231117

Summaries for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

MalaCards based summary : Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is related to kidney cancer and temple syndrome. An important gene associated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is H19 (H19 Imprinted Maternally Expressed Transcript).

Related Diseases for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Diseases in the Beckwith-Wiedemann Syndrome family:

Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15
Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11

Diseases related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 kidney cancer 9.9 KCNQ1OT1 H19
2 temple syndrome 9.8 KCNQ1OT1 IGF2
3 spastic paraplegia 17, autosomal dominant 9.8 KCNQ1OT1 IGF2
4 omphalocele 9.8 KCNQ1OT1 IGF2
5 transient neonatal diabetes mellitus 9.8 KCNQ1OT1 IGF2
6 silver-russell syndrome due to 11p15 microduplication 9.8 IGF2 H19
7 silver-russell syndrome due to an imprinting defect of 11p15 9.8 IGF2 H19
8 pax6-related aniridia 9.8 IGF2 H19
9 fetal macrosomia 9.8 IGF2 H19
10 gestational trophoblastic neoplasm 9.8 IGF2 H19
11 angelman syndrome 9.8 KCNQ1OT1 IGF2
12 adrenal cortical carcinoma 9.7 IGF2 H19
13 germ cell cancer 9.7 IGF2 H19
14 choriocarcinoma 9.7 IGF2 H19
15 hepatoblastoma 9.7 IGF2 H19
16 embryonal carcinoma 9.7 IGF2 H19
17 lung cancer susceptibility 3 9.7 KCNQ1OT1 H19
18 osteogenic sarcoma 9.7 IGF2 H19
19 meningioma, familial 9.7 IGF2 H19
20 prader-willi syndrome 9.6 IGF2 H19
21 pre-eclampsia 9.6 IGF2 H19
22 beckwith-wiedemann syndrome 9.5 KCNQ1OT1 IGF2 H19
23 hemihyperplasia, isolated 9.5 KCNQ1OT1 IGF2 H19
24 wilms tumor predisposition 9.5 KCNQ1OT1 IGF2 H19
25 umbilical hernia 9.5 KCNQ1OT1 IGF2 H19
26 silver-russell syndrome 1 9.5 KCNQ1OT1 IGF2 H19
27 wilms tumor 1 9.5 KCNQ1OT1 IGF2 H19
28 esophageal cancer 9.5 KCNQ1OT1 IGF2 H19
29 pheochromocytoma 9.4 IGF2 H19
30 gastric cancer 9.3 KCNQ1OT1 IGF2 H19

Graphical network of the top 20 diseases related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:



Diseases related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Symptoms & Phenotypes for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Search Clinical Trials , NIH Clinical Center for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Genetic Tests for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Anatomical Context for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Publications for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Variations for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Expression for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Search GEO for disease gene expression data for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15.

Pathways for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

GO Terms for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Biological processes related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 8.62 IGF2 H19

Sources for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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