MCID: BCK012
MIFTS: 12

Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal 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 55

Characteristics:

Orphanet epidemiological data:

55

Classifications:



External Ids:

Orphanet 55 ORPHA231117
ICD10 via Orphanet 33 Q87.3

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 KCNQ1OT1 (KCNQ1 Opposite Strand/Antisense Transcript 1 (Non-Protein Coding)).

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

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:


# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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