MCID: BCK012
MIFTS: 10

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

Categories: Genetic diseases, Nephrological diseases, Fetal diseases, Rare diseases

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

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Sources:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

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

Name: Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 52

Characteristics:

Orphanet epidemiological data:

52

Classifications:



External Ids:

Orphanet52 ORPHA231117
ICD10 via Orphanet29 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 beckwith-wiedemann syndrome due to cdkn1c mutation and beckwith-wiedemann syndrome due to 11p15 microdeletion. An important gene associated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is KCNQ1OT1 (KCNQ1 Opposite Strand/Antisense Transcript 1 (Non-Protein Coding)).

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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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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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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet