MCID: BCK012
MIFTS: 13

Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 malady

Genetic diseases, Nephrological diseases, Fetal diseases, Cancer diseases, Rare diseases categories

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

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Sources:
51Orphanet, 28ICD10 via Orphanet
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Aliases & Descriptions for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:

Name: Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
beckwith-wiedemann syndrome due to imprinting defect of 11p15:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 231117
ICD10 via Orphanet28 Q87.3

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

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MalaCards based summary: Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is related to silver-russell syndrome due to maternal uniparental disomy of chromosome 11 and beckwith-wiedemann syndrome due to cdkn1c mutation. 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 mouse phenotypes are embryogenesis and cellular.

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

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

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

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Interventional clinical trials:

Search ClinicalTrials, 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

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

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Animal Models for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 or affiliated genes

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MGI Mouse Phenotypes related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5H19, IGF2, KCNQ1OT1
2MP:00053848.2H19, IGF2, KCNQ1OT1

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

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

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

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

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

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet