MCID: BCK012
MIFTS: 16

Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Liver 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 60

Characteristics:

Orphanet epidemiological data:

60

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.3
Orphanet 60 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 silver-russell syndrome due to an imprinting defect of 11p15 and silver-russell syndrome due to 11p15 microduplication. An important gene associated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is IGF2 (Insulin Like Growth Factor 2). Affiliated tissues include lung, kidney and liver.

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:

(showing 24, show less)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome due to an imprinting defect of 11p15 10.0 H19 IGF2
2 silver-russell syndrome due to 11p15 microduplication 10.0 H19 IGF2
3 umbilical hernia 10.0 H19 IGF2
4 fetal macrosomia 10.0 H19 IGF2
5 germ cell cancer 10.0 H19 IGF2
6 hepatoblastoma 10.0 H19 IGF2
7 adrenocortical carcinoma, hereditary 9.9 H19 IGF2
8 embryonal carcinoma 9.9 H19 IGF2
9 rhabdomyosarcoma 9.9 H19 IGF2
10 prader-willi syndrome 9.9 H19 IGF2
11 kidney cancer 9.8 H19 KCNQ1OT1
12 spastic paraplegia 17, autosomal dominant 9.8 IGF2 KCNQ1OT1
13 medulloblastoma 9.8 H19 IGF2
14 renal cell carcinoma, nonpapillary 9.8 H19 KCNQ1OT1
15 lung cancer susceptibility 3 9.7 H19 KCNQ1OT1
16 beckwith-wiedemann syndrome 9.5 H19 IGF2 KCNQ1OT1
17 hemihyperplasia, isolated 9.5 H19 IGF2 KCNQ1OT1
18 silver-russell syndrome 9.5 H19 IGF2 KCNQ1OT1
19 wilms tumor 1 9.5 H19 IGF2 KCNQ1OT1
20 esophageal cancer 9.5 H19 KCNQ1OT1
21 hepatocellular carcinoma 9.5 H19 IGF2 KCNQ1OT1
22 prostate cancer 9.4 H19 IGF2 KCNQ1OT1
23 colorectal cancer 9.4 H19 IGF2 KCNQ1OT1
24 breast cancer 9.3 H19 IGF2 KCNQ1OT1

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

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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

MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:

42
Lung, Kidney, Liver, Breast, Prostate

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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