MCID: BCK012
MIFTS: 21

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

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

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

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MalaCards: Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is related to hemihypertrophy and embryonal cancer. An important gene associated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is H19 (H19, imprinted maternally expressed transcript (non-protein coding)). The compounds nap-2 and apai have been mentioned in the context of this disorder. Related mouse phenotypes are growth/size/body and embryogenesis.

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

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50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
beckwith-wiedemann syndrome due to imprinting defect of 11p15:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beckwith-wiedemann syndrome due to imprinting defect of 11p15 50


External Ids:

ICD10 via Orphanet27 Q87.3

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

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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38MGI
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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:00053788.5H19, KCNQ1OT1, IGF2
2MP:00053808.4H19, KCNQ1OT1, IGF2
3MP:00053848.2H19, KCNQ1OT1, IGF2

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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 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 genes affiliated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

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

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Sources:
46Novoseek, 3BitterDB, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1nap-2469.6H19, IGF2
2apai469.6H19, IGF2
3rsai469.5IGF2, H19
4azathioprine46 3 52 1212.5H19, IGF2
55-aza-2deoxycytidine469.5H19, IGF2
6acth469.4IGF2, H19
7agar469.4H19, IGF2
8ribonucleic acid469.3H19, IGF2
9steroid469.3H19, IGF2
10paraffin469.2IGF2, H19
11thymidine46 2510.0H19, IGF2

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

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

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet