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BWS
MCID: BCK002
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Beckwith-wiedemann Syndrome malady |
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71 genes, 4 tissues, 156 related diseases, 20 phenotypes, 90 articles, clinical trials, genetic tests.
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Sources: 17Genetics Home Reference, 30NIH Rare Diseases, 44Wikipedia, 33OMIM, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Beckwith-Wiedemann syndrome is a growth disorder that causes large body size, large organs, and other symptoms. The condition is present from birth. Newborns may be born with omphalocele and/or develop low blood sugar (hypoglycemia). Beckwith-Wiedemann syndrome is also associated with an increased rate of tumor (e.g., Wilm's tumor, adrenal carcinoma) development. Complications in infancy can become life threatening, however children with this syndrome tend to do well and have a normal to near normal learning ability. In most cases the cause of the condition is unknown. Some cases are associated with a anomaly involving chromosome 11.30
MalaCards: Beckwith-wiedemann Syndrome, also known as wiedemann-beckwith syndrome (wbs), is related to overgrowth syndrome and silver-russell syndrome. An important gene associated with Beckwith-wiedemann Syndrome is SLC22A18 (solute carrier family 22, member 18), and among its related pathways are Cell Cycle / Checkpoint Control and Prostate cancer. The compounds nap-2 and hpaii have been mentioned in the context of this disorder. Affiliated tissues include liver, adrenal gland and t cells, and related mouse phenotypes are respiratory system and hematopoietic system. Genetics Home Reference: Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and continue to grow and gain weight at an unusual rate during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern is known as hemihyperplasia.17 Wikipedia: Beckwith–Wiedemann syndrome (pron.: /ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth...44 more... OMIM: 130650 GeneReviews summary for bws |
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Sources: 6Disease Ontology, 7diseasecard, 15GeneReviews, 30NIH Rare Diseases, 17Genetics Home Reference, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 16GeneTests, 40SNOMED-CT, 24MeSH, 27NCIt See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 130650
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for beckwith-wiedemann syndrome Drug clinical trials:Search ClinicalTrials for beckwith-wiedemann syndrome Search NIH Clinical Center for beckwith-wiedemann syndrome Search CenterWatch for beckwith-wiedemann syndrome |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to beckwith-wiedemann syndrome:22Liver, Adrenal gland, T cells, Tongue
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to beckwith-wiedemann syndrome:25 (show all 20)
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Sources: 35PubMed See all sources |
Articles related to beckwith-wiedemann syndrome:(show top 50) (show all 90)
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Sources: 1BioGPS See all sources |
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Sources: 3Cell Signaling Technology, 20KEGG See all sources |
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Sources: 32Novoseek , 18HMDB, 9DrugBank, 42Tocris Bioscience, 34PharmGKB See all sources |
Compounds related to beckwith-wiedemann syndrome according to GeneDecks:(show all 42)
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Sources: 12Gene Ontology See all sources |
Biological processes related to beckwith-wiedemann syndrome according to GeneDecks:
Molecular functions related to beckwith-wiedemann syndrome according to GeneDecks:
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