MCID: BCK012
MIFTS: 18

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:
48Orphanet, 26ICD10 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 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
beckwith-wiedemann syndrome due to imprinting defect of 11p15:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal


External Ids:

Orphanet48 231117
ICD10 via Orphanet26 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 hemi 3 syndrome 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.

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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Drug clinical trials:

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

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

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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:

35
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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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:
44Novoseek, 1BitterDB, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1nap-2449.6H19, IGF2
2apai449.6H19, IGF2
3rsai449.5IGF2, H19
4azathioprine44 1 50 1112.5H19, IGF2
55-aza-2deoxycytidine449.5H19, IGF2
6acth449.4IGF2, H19
7agar449.4H19, IGF2
8ribonucleic acid449.3H19, IGF2
9steroid449.3H19, IGF2
10paraffin449.2IGF2, H19
11thymidine44 2410.0H19, IGF2

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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet