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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MalaCards based summary: 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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Sources:
48Orphanet, 26ICD10 via Orphanet
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Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15, Aliases & Descriptions:

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: Sporadic; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 Q87.3

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:

36
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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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:
44Novoseek, 2BitterDB, 50PharmGKB, 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-2449.6IGF2, H19
2apai449.6IGF2, H19
3rsai449.5H19, IGF2
4azathioprine44 2 50 1112.5H19, IGF2
55-aza-2deoxycytidine449.5IGF2, H19
6acth449.4IGF2, H19
7agar449.4H19, IGF2
8ribonucleic acid449.3IGF2, H19
9steroid449.3IGF2, H19
10paraffin449.2IGF2, H19
11thymidine44 2410.0IGF2, H19

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
  • Proteins
  • Lysates

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet