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

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33MalaCards
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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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49Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 49


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ICD10 via Orphanet26 Q87.3

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

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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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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37MGI
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MGI Mouse Phenotypes related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:

37
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, 15Gene 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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45Novoseek, 3BitterDB, 51PharmGKB, 11DrugBank, 24HMDB
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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-2459.6H19, IGF2
2apai459.6H19, IGF2
3rsai459.5IGF2, H19
4azathioprine45 3 51 1112.5H19, IGF2
55-aza-2deoxycytidine459.5H19, IGF2
6acth459.4IGF2, H19
7agar459.4H19, IGF2
8ribonucleic acid459.3H19, IGF2
9steroid459.3H19, IGF2
10paraffin459.2IGF2, H19
11thymidine45 2410.0H19, 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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Sources for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet