MCID: BCK012
MIFTS: 20

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

Nephrological diseases, Fetal diseases, Cancer 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 gigantism and growth retardation-mild developmental delay-chronic hepatitis syndrome. 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 embryogenesis and liver/biliary system.

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

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48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Cancer diseases
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

48
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 48


External Ids:

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

Clinical Features 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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

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

Search CenterWatch 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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36MGI
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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:00053808.5IGF2, H19, KCNQ1OT1
2MP:00053708.4IGF2, H19, KCNQ1OT1
3MP:00053678.2IGF2, H19, KCNQ1OT1

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

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Genetic 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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1BioGPS, 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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Sources:
44Novoseek, 49PharmGKB, 2BitterDB, 11DrugBank
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Compounds related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nap-2449.2IGF2, H19
2apai449.2IGF2, H19
3rsai449.1IGF2, H19
4azathioprine44 49 2 1112.1IGF2, H19
55-aza-2deoxycytidine449.0H19, IGF2
6ribonucleic acid449.0IGF2, H19
7acth448.9IGF2, H19
8agar448.7IGF2, 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
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet