MCID: BCK010
MIFTS: 10

Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion malady

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

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

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Sources:
48Orphanet, 26ICD10 via Orphanet
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Aliases & Descriptions for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion:

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,Not applicable


External Ids:

Orphanet48 231127
ICD10 via Orphanet26 Q87.3

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 hemi 3 syndrome 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.

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

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Diseases related to Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hemi 3 syndrome10.1H19
2wilms tumor9.9H19, KCNQ1OT1
3beckwith-wiedemann syndrome9.7H19, KCNQ1OT1

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:

35
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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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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Sources for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet