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 59

Characteristics:

Orphanet epidemiological data:

59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.3
Orphanet 59 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 renal cell carcinoma, nonpapillary. 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:

(showing 24, show less)
# Related Disease Score Top Affiliating Genes
1 kidney cancer 9.9 KCNQ1OT1 H19
2 renal cell carcinoma, nonpapillary 9.8 KCNQ1OT1 H19
3 spastic paraplegia 17, autosomal dominant 9.8 KCNQ1OT1 IGF2
4 lung cancer susceptibility 3 9.8 KCNQ1OT1 H19
5 silver-russell syndrome due to 11p15 microduplication 9.7 IGF2 H19
6 silver-russell syndrome due to an imprinting defect of 11p15 9.7 IGF2 H19
7 umbilical hernia 9.7 IGF2 H19
8 fetal macrosomia 9.7 IGF2 H19
9 germ cell cancer 9.7 IGF2 H19
10 hepatoblastoma 9.7 IGF2 H19
11 adrenocortical carcinoma, hereditary 9.6 IGF2 H19
12 embryonal carcinoma 9.6 IGF2 H19
13 rhabdomyosarcoma 9.6 IGF2 H19
14 prader-willi syndrome 9.5 IGF2 H19
15 medulloblastoma 9.4 IGF2 H19
16 esophageal cancer 9.4 KCNQ1OT1 H19
17 beckwith-wiedemann syndrome 9.2 KCNQ1OT1 IGF2 H19
18 hemihyperplasia, isolated 9.2 KCNQ1OT1 IGF2 H19
19 silver-russell syndrome 9.2 KCNQ1OT1 IGF2 H19
20 wilms tumor 1 9.2 KCNQ1OT1 IGF2 H19
21 hepatocellular carcinoma 9.1 KCNQ1OT1 IGF2 H19
22 prostate cancer 9.1 KCNQ1OT1 IGF2 H19
23 colorectal cancer 8.9 KCNQ1OT1 IGF2 H19
24 breast cancer 8.8 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

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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