MCID: BCK012
MIFTS: 11

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:
30ICD10 via Orphanet, 53Orphanet
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 53

Characteristics:

Orphanet epidemiological data:

53

Classifications:



External Ids:

Orphanet53 ORPHA231117
ICD10 via Orphanet30 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet