MCID: BCK010
MIFTS: 13

Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion malady

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

Summaries for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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MalaCards based summary: Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion is related to hemihypertrophy and wilms tumor. An important gene associated with Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion is H19 (H19, imprinted maternally expressed transcript (non-protein coding)). Related mouse phenotypes are normal and embryogenesis.

Aliases & Classifications for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Sources:
48Orphanet, 27ICD10 via Orphanet
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Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion, Aliases & Descriptions:

Name: Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
beckwith-wiedemann syndrome due to 11p15 microdeletion:
Inheritance: Autosomal dominant,Sporadic


External Ids:

ICD10 via Orphanet27 Q87.3

Related Diseases for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Symptoms for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Drugs & Therapeutics for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Drug clinical trials:

Search ClinicalTrials for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Search NIH Clinical Center for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Genetic Tests for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Anatomical Context for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Animal Models for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion or affiliated genes

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MGI Mouse Phenotypes related to Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.1H19, KCNQ1OT1
2MP:00053808.8H19, KCNQ1OT1

Publications for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Variations for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Expression for genes affiliated with Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Expression patterns in normal tissues for genes affiliated with Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Search GEO for disease gene expression data for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion.

Pathways for genes affiliated with Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Compounds for genes affiliated with Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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GO Terms for genes affiliated with Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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Products for genes affiliated with Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet