BWS
MCID: BCK002
MIFTS: 62

Beckwith-Wiedemann Syndrome (BWS) malady

Nephrological, Fetal, Cancer categories

Summaries for Beckwith-Wiedemann Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 8/8/2012

MalaCards: Beckwith-Wiedemann Syndrome, also known as wiedemann-beckwith syndrome, is related to macroglossia and wilms tumor, and has symptoms including neoplasms/tumors, tall stature/gigantism/growth acceleration and mid-facial hypoplasia/short/small midface. An important gene associated with Beckwith-Wiedemann Syndrome is H19 (H19, imprinted maternally expressed transcript (non-protein coding)). The compounds cysteine and nap-2 have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and kidney, and related mouse phenotypes are growth/size and embryogenesis.

Genetics Home Reference:21 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.

Wikipedia:64 Beckwith–Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth... more...

Description from OMIM:47 130650

GeneReviews summary for bws

Aliases & Classifications for Beckwith-Wiedemann Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Nephrological


Characteristics (Orphanet epidemiological data):

49
beckwith-wiedemann syndrome:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

beckwith-wiedemann syndrome 8 9 19 43 21 47 10 45 49 61
wiedemann-beckwith syndrome 19 43 20 22 21 49
emg syndrome 43 21
bws 21 49
exomphalos-macroglossia-gigantism syndrome 21
exomphalos macroglossia gigantism syndrome 43
exomphalos - macroglossia - gigantism 49


External Ids:

Disease Ontology8 DOID:5572
MeSH35 D001506
NCIt40 C34415
OMIM47 130650
SNOMED-CT57 81780002
MESH via Orphanet36 D001506
ICD10 via Orphanet26 Q87.3
SNOMED-CT via Orphanet58 81780002
UMLS via Orphanet62 C0004903

Related Diseases for Beckwith-Wiedemann Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Beckwith-Wiedemann Syndrome family:

beckwith-wiedemann syndrome due to cdkn1c mutation beckwith-wiedemann syndrome due to 11p15 microdeletion
beckwith-wiedemann syndrome due to 11p15 translocation/inversion beckwith-wiedemann syndrome due to imprinting defect of 11p15
beckwith-wiedemann syndrome due to nsd1 mutation beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11
beckwith-wiedemann syndrome due to 11p15 microduplication

Diseases related to Beckwith-Wiedemann Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1macroglossia31.2CDKN1C
2wilms tumor31.2NAP1L4, CDKN1C, IGF2, WT2, H19, KCNQ1OT1
3hemihypertrophy31.0H19, IGF2, CDKN1C, SMPD1
4omphalocele30.9CDKN1C, IGF2
5silver-russell syndrome30.9H19, IGF2, CDKN1C
6gigantism30.8H19
7adrenocortical carcinoma30.6CDKN1C, IGF2, H19
8adrenal adenoma30.6CDKN1C, IGF2, H19
9rhabdoid tumor30.3IGF2, STIM1
10n syndrome11.1
11micro syndrome10.7
12mass syndrome10.6
13kid syndrome10.6
14pancreatoblastoma10.6
15char syndrome10.6
16adenoma10.5
17medullary sponge kidney10.5
18sotos syndrome10.4
19cleft palate10.4
20hyperinsulinism10.4
21acute leukemia10.4
22prune belly syndrome10.4
23urethral syndrome10.4
24aniridia10.4
25bladder neck obstruction10.4
26alveolar rhabdomyosarcoma10.4
27hypoglycemia10.4
28adult syndrome10.4
29pheochromocytoma10.4
30short syndrome10.4
31neural crest tumor10.4
32beckwith-wiedemann syndrome due to cdkn1c mutation10.4
33beckwith-wiedemann syndrome due to 11p15 microdeletion10.4
34beckwith-wiedemann syndrome due to 11p15 translocation/inversion10.4
35beckwith-wiedemann syndrome due to imprinting defect of 11p1510.4
36beckwith-wiedemann syndrome due to nsd1 mutation10.4
37renal dysplasia10.4
38beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 1110.4
39beckwith-wiedemann syndrome due to 11p15 microduplication10.4
40hellp syndrome10.2
41megakaryocytic leukemia10.2
42wagr syndrome10.2
43renal wilms' tumor10.2
44chorioangioma10.2
45klinefelter's syndrome10.2
46sensorineural hearing loss10.2
47congenital hypothyroidism10.2
48arteriovenous malformation10.2
49proteus syndrome10.2
50acute myeloid leukemia10.2

Graphical network of the top 20 diseases related to Beckwith-Wiedemann Syndrome:



Diseases related to beckwith-wiedemann syndrome

Clinical Features for Beckwith-Wiedemann Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

130650

Clinical synopsis from OMIM:

130650

Symptoms:

49 (show all 38)
  • neoplasms/tumors
  • tall stature/gigantism/growth acceleration
  • mid-facial hypoplasia/short/small midface
  • macrostomia/big mouth
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • bifid/cleft ear lobe/ear lobe pits
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • omphalocele/exomphalos
  • umbilical hernia
  • loose skin/skin relaxation/excess skin/creases
  • pigmented naevi/naevus pigmentosus/lentigo
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • diaphragmatic hernia/defect/agenesis
  • cardiomegaly
  • renal disease/nephropathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • anomaly of pancreatic hormones
  • hypoglycemia
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • inguinal/inguinoscrotal/crural hernia
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • hepatomegaly/liver enlargement (excluding storage disease)
  • structural anomalies of the pancreas
  • splenomegaly
  • apnea/sleep apnea
  • congenital cardiac anomaly/malformation/cardiopathy
  • cardiomyopathy/hypertrophic/dilated
  • polycystic kidneys
  • hypothyroidy
  • adrenal glands anomalies
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • neuroblastoma
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • monozygotic twinning

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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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

Genetic Tests for Beckwith-Wiedemann Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Beckwith-Wiedemann Syndrome:

id Genetic test Affiliating Genes
1 Beckwith-wiedemann Syndrome20 22 KCNQ1OT1

Anatomical Context for Beckwith-Wiedemann Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

33
Brain, Cortex, Kidney, Liver, Lung, Adrenal gland, Breast, Placenta, Myeloid, T cells, Fetal brain, Tongue, Fetal liver, Fetal lung, Pancreatic islet, Adrenal cortex

Animal Models for Beckwith-Wiedemann Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Beckwith-Wiedemann Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537810.2CDKN1C, NUP98, IGF2, STIM1, PHLDA2, H19
2MP:000538010.2KCNQ1OT1, CDKN1C, NUP98, IGF2, PHLDA2, H19
3MP:00053849.9KCNQ1OT1, H19, PHLDA2, STIM1, IGF2, NUP98

Publications for Beckwith-Wiedemann Syndrome

Sources:
51PubMed
See all sources

Articles related to Beckwith-Wiedemann Syndrome:

(show top 50)    (show all 481)
idTitleAuthorsYear
1
Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology. (24325814)
2013
2
The placenta in Beckwith-Wiedemann syndrome: genotype-phenotype associations, excessive extravillous trophoblast and placental mesenchymal dysplasia. (22772341)
2012
3
Impact of tongue reduction on overall speech intelligibility, articulation and oromyofunctional behavior in 4 children with Beckwith-Wiedemann syndrome. (22095257)
2012
4
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome. (21571108)
2011
5
Beckwith-Wiedemann Syndrome and Juvenile Fibroadenoma: A Case Report. (20407364)
2010
6
Tongue reduction in Beckwith-Wiedemann syndrome with CO(2) laser. (19553838)
2009
7
Beckwith-Wiedemann syndrome associated with haemodynamically significant Tetralogy of Fallot. (20183935)
2009
8
Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. (18546283)
2008
9
Beckwith Wiedemann syndrome: presentation of a case report. (18830172)
2008
10
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour. (17158821)
2007
11
Long-term outcomes of surgical tongue reduction in Beckwith-Wiedemann syndrome. (17312506)
2007
12
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome. (17259293)
2007
13
Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction. (17079879)
2006
14
Vascular malformation and choroid plexus adrenal heterotopia: new findings in Beckwith-Wiedemann syndrome? (17162526)
2006
15
Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband. (16007611)
2005
16
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. (15743916)
2005
17
Hypercalciuria in Beckwith-Wiedemann syndrome. (12584548)
2003
18
Thoracic neural crest tumors in Beckwith-Wiedemann syndrome. (14515390)
2003
19
Bilateral asynchronous adrenal adenoma in a girl with an incomplete form of Beckwith-Wiedemann syndrome. (11271390)
2001
20
Characteristics and outcome of children with Beckwith-Wiedemann syndrome and Wilms' tumor: a report from the National Wilms Tumor Study Group. (10811666)
2000
21
The two-domain hypothesis in Beckwith-Wiedemann syndrome. (10995782)
2000
22
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. (11173664)
2000
23
Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse. (10915772)
2000
24
Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndrome. (10779549)
2000
25
Nephromegaly in infancy and early childhood: a risk factor for Wilms tumor in Beckwith-Wiedemann syndrome. (9544890)
1998
26
Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. (9725306)
1998
27
Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. (9260520)
1997
28
Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. (9349812)
1997
29
Molecular genetics of Beckwith-Wiedemann syndrome. (9425596)
1997
30
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. (9350814)
1997
31
Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. (9285792)
1997
32
Renal cell carcinoma in a patient with Beckwith-Wiedemann syndrome. (8657457)
1996
33
Cloning of candidate genes involved in the Beckwith-Wiedemann syndrome and childhood tumors. (8827080)
1996
34
Congenital stapedial fixation associated with Beckwith--Wiedemann syndrome: two cases of a woman and her brother. (8694112)
1996
35
Bone invasion by a recurrent digital fibroma of infancy in a child with Beckwith-Wiedemann syndrome. (8736604)
1995
36
Medullary renal dysplasia mimicking renal tumor in the Beckwith-Wiedemann syndrome. (8042251)
1994
37
Beckwith-Wiedemann syndrome: antenatal diagnosis. (8024507)
1994
38
Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome. (8320696)
1993
39
Congenital hepatoblastoma and Beckwith-Wiedemann syndrome: a case study including DNA ploidy profiles of tumor and adrenal cytomegaly. (1849635)
1991
40
Loss of heterozygosity in non-tumoral tissue in two children with Beckwith-Wiedemann syndrome. (1688177)
1991
41
Benign hemorrhagic adrenocortical macrocysts in Beckwith-Wiedemann syndrome. (1872243)
1991
42
In utero prenatal diagnosis of Beckwith-Wiedemann syndrome; a case report. (2676642)
1989
43
More on the Beckwith-Wiedemann syndrome. (3743927)
1986
44
Abnormally large placenta associated with Beckwith-Wiedemann syndrome. (3536683)
1986
45
Bronze baby syndrome, biliary hypoplasia, incomplete Beckwith-Wiedemann syndrome and partial trisomy 11. (3732319)
1986
46
Beckwith-Wiedemann syndrome: a quantitative, immunohistochemical study of pancreatic islet cell populations. (2868957)
1985
47
Wilms' tumor in a patient with an incomplete form of Beckwith-Wiedemann syndrome. (6250123)
1980
48
Exomphalos-macroglossia-gigantism (visceromegaly) syndrome. (The Beckwith-Wiedemann syndrome). (5058514)
1972
49
Beckwith-Wiedemann syndrome. Wilms' tumor, cardiac hamartoma, persistent visceromegaly, and glomeruloneogenesis in a 2-year-old boy. (4343707)
1972
50
The Beckwith-Wiedemann syndrome. (5156259)
1971

Genetic Variations for Beckwith-Wiedemann Syndrome

Expression for genes affiliated with Beckwith-Wiedemann Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Beckwith-Wiedemann Syndrome

Search GEO for disease gene expression data for Beckwith-Wiedemann Syndrome.

Pathways for genes affiliated with Beckwith-Wiedemann Syndrome

Compounds for genes affiliated with Beckwith-Wiedemann Syndrome

Sources:
45Novoseek
See all sources

Compounds related to Beckwith-Wiedemann Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cysteine4510.2KCNQ1, CARS, IGF2, RRM1, TSPAN32, SMPD1
2nap-24510.2KCNQ1, H19, IGF2, NAP1L4
3apai4510.1H19, IGF2

GO Terms for genes affiliated with Beckwith-Wiedemann Syndrome

Sources:
16Gene Ontology
See all sources

Biological processes related to Beckwith-Wiedemann Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of gene expression by genetic imprintingGO:00634910.4IGF2, KCNQ1

Products for genes affiliated with Beckwith-Wiedemann Syndrome

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Sources for Beckwith-Wiedemann Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet