BWS
MCID: BCK002
MIFTS: 65

Beckwith-Wiedemann Syndrome (BWS) malady

Nephrological diseases, Fetal diseases, Cancer diseases categories

Summaries for Beckwith-Wiedemann Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 hepatoblastoma and silver-russell syndrome, and has symptoms including polycystic kidneys, hypothyroidy and adrenal glands anomalies. 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 tongue, adrenal gland and skin, 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:63 Beckwith–Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth... more...

Description from OMIM:46 130650

GeneReviews summary for bws

Aliases & Classifications for Beckwith-Wiedemann Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 21 46 10 44 48 60
wiedemann-beckwith syndrome 19 42 20 22 21 48
emg syndrome 42 21
bws 21 48
exomphalos-macroglossia-gigantism syndrome 21
exomphalos macroglossia gigantism syndrome 42
exomphalos - macroglossia - gigantism 48


External Ids:

Disease Ontology8 DOID:5572
MeSH34 D001506
NCIt39 C34415
OMIM46 130650
SNOMED-CT56 81780002
MESH via Orphanet35 D001506
ICD10 via Orphanet26 Q87.3
SNOMED-CT via Orphanet57 81780002
UMLS via Orphanet61 C0004903

Related Diseases for Beckwith-Wiedemann Syndrome

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17GeneCards, 18GeneDecks
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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 111)
idRelated DiseaseScoreTop Affiliating Genes
1hepatoblastoma31.2H19, IGF2, CDKN1C, SLC22A18
2silver-russell syndrome30.9H19, IGF2, CDKN1C
3rhabdomyosarcoma30.8SLC22A18, IGF2, STIM1, H19
4adrenocortical carcinoma30.6CDKN1C, IGF2, H19
5adrenal adenoma30.6CDKN1C, IGF2, H19
6omphalocele30.3CDKN1C, IGF2
7hemihypertrophy30.3H19, IGF2, CDKN1C, SMPD1
8macroglossia30.3CDKN1C
9nephroblastoma30.3CDKN1C
10pancreatitis10.6
11pancreatoblastoma10.5
12adenoma10.5
13neuroblastoma10.5
14sotos syndrome10.4
15cleft palate10.4
16hyperinsulinism10.4
17acute leukemia10.4
18hepatitis10.4
19leukemia10.4
20urethritis10.3
21urethral syndrome10.3
22aniridia10.3
23bladder neck obstruction10.3
24alveolar rhabdomyosarcoma10.3
25hypoglycemia10.3
26adult syndrome10.3
27hypertension10.3
28renal cell carcinoma10.3
29pheochromocytoma10.3
30image syndrome10.3
31beckwith-wiedemann syndrome due to cdkn1c mutation10.3
32beckwith-wiedemann syndrome due to 11p15 microdeletion10.3
33beckwith-wiedemann syndrome due to 11p15 translocation/inversion10.3
34beckwith-wiedemann syndrome due to imprinting defect of 11p1510.3
35beckwith-wiedemann syndrome due to nsd1 mutation10.3
36beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 1110.3
37beckwith-wiedemann syndrome due to 11p15 microduplication10.3
38hellp syndrome10.2
39megakaryocytic leukemia10.2
40wagr syndrome10.2
41renal wilms' tumor10.2
42chorioangioma10.2
43choroiditis10.2
44sensorineural hearing loss10.2
45congenital hypothyroidism10.2
46arteriovenous malformation10.2
47proteus syndrome10.2
48acute myeloid leukemia10.2
49sudden infant death syndrome10.2
50west syndrome10.2

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



Diseases related to beckwith-wiedemann syndrome

Clinical Features for Beckwith-Wiedemann Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

130650

Clinical synopsis from OMIM:

130650

Symptoms:

48 (show all 38)
  • 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
  • bifid/cleft ear lobe/ear lobe pits
  • cardiomyopathy/hypertrophic/dilated
  • congenital cardiac anomaly/malformation/cardiopathy
  • apnea/sleep apnea
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • pigmented naevi/naevus pigmentosus/lentigo
  • loose skin/skin relaxation/excess skin/creases
  • umbilical hernia
  • omphalocele/exomphalos
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • macrostomia/big mouth
  • mid-facial hypoplasia/short/small midface
  • tall stature/gigantism/growth acceleration
  • diaphragmatic hernia/defect/agenesis
  • cardiomegaly
  • splenomegaly
  • structural anomalies of the pancreas
  • hepatomegaly/liver enlargement (excluding storage disease)
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • inguinal/inguinoscrotal/crural hernia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • hypoglycemia
  • anomaly of pancreatic hormones
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • renal disease/nephropathy
  • neoplasms/tumors

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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20GeneTests, 22GTR
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Genetic tests related to Beckwith-Wiedemann Syndrome:

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

Anatomical Context for Beckwith-Wiedemann Syndrome

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32MalaCards
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MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

32
Tongue, Adrenal gland, Skin, Liver, Testes, Kidney, Pancreas, Placenta, Breast, Brain, Cortex, Bone, Adrenal cortex, Lung, Myeloid, Pancreatic islet

Animal Models for Beckwith-Wiedemann Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Beckwith-Wiedemann Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537810.2KCNQ1OT1, H19, PHLDA2, STIM1, IGF2, NUP98
2MP:000538010.2CDKN1C, KCNQ1OT1, NSD1, H19, PHLDA2, IGF2
3MP:00053849.9KCNQ1OT1, H19, PHLDA2, STIM1, IGF2, NUP98

Publications for Beckwith-Wiedemann Syndrome

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50PubMed
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Articles related to Beckwith-Wiedemann Syndrome:

(show top 50)    (show all 473)
idTitleAuthorsYear
1
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. (23917791)
2013
2
Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene. (23061425)
2013
3
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (22795092)
2012
4
Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation. (22615066)
2012
5
Systemic and maxillofacial characteristics of patients with Beckwith-Wiedemann syndrome not treated with glossectomy. (21457863)
2011
6
Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome. (20933618)
2011
7
Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. (20459838)
2010
8
Beckwith-Wiedemann syndrome. (19550435)
2010
9
Living donor liver transplantation for hepatoblastoma with Beckwith-Wiedemann syndrome. (19496980)
2010
10
Simultaneous occurrence of pancreatoblastoma and neuroblastoma in a newborn with beckwith-wiedemann syndrome. (20495482)
2010
11
A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally. (20648245)
2010
12
CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. (19386358)
2009
13
Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. (19610116)
2009
14
Beckwith-Wiedemann syndrome associated with congenital hypothyroidism in a preterm neonate: a case report and literature review. (19474816)
2009
15
Anesthetic management of two cases of Beckwith-Wiedemann syndrome. (18306025)
2008
16
Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography. (18249379)
2008
17
A novel approach to detect parent-of-origin effects from pedigree data with application to Beckwith-Wiedemann syndrome. (17578507)
2007
18
Bilateral hemorrhagic adrenal cysts in an incomplete form of Beckwith-Wiedemann syndrome: MRI and prenatal US findings. (16252142)
2005
19
Evolution of the Beckwith-Wiedemann syndrome region in vertebrates. (15590939)
2005
20
Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor. (16049499)
2005
21
Antenatal manifestation of congenital pancreatoblastoma in a fetus with Beckwith-Wiedemann syndrome. (12673632)
2003
22
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. (12970646)
2003
23
Beckwith-Wiedemann Syndrome (BWS): a case report and literature review. (12769320)
2003
24
Progressive stapedial fixation in Beckwith-Wiedemann syndrome. (14568801)
2003
25
Successful laparoscopic operation of bilateral pheochromocytoma in a patient with Beckwith-Wiedemann syndrome. (11967723)
2002
26
Hypoglycemia in Beckwith-Wiedemann syndrome. (10805171)
2000
27
Teratoid Wilms' tumour occurring synchronously with classical Wilms' tumour in Beckwith Wiedemann syndrome. (11009309)
2000
28
Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome. (11146475)
2000
29
Analysis of germline CDKN1C (p57-KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype- phenotype correlation. (10424811)
1999
30
Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion. (9507400)
1998
31
Prenatal diagnosis of Beckwith-Wiedemann syndrome. (9016239)
1997
32
Congenital mesoblastic nephroma in a child with the Beckwith-Wiedemann syndrome. (9302166)
1997
33
Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. (9020845)
1997
34
A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat]. (8872040)
1996
35
Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. (8634713)
1995
36
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. (7820926)
1994
37
Beckwith-Wiedemann syndrome. (7966193)
1994
38
The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith-Wiedemann syndrome. (7943172)
1994
39
Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature. (1728953)
1992
40
Cystic adrenal masses in the neonate associated with hemihypertrophy and the relation to the Beckwith-Wiedemann syndrome. (1861304)
1991
41
Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma. (2921038)
1989
42
Minimal expression of the Beckwith-Wiedemann syndrome and bilateral Wilms' tumor. (2835898)
1988
43
Anesthetic considerations in Beckwith-Wiedemann syndrome. (2886899)
1987
44
Prenatal diagnosis of the Beckwith-Wiedemann syndrome. (3518454)
1986
45
Macroglossia as a presentation of the Beckwith-Wiedemann syndrome. (2982171)
1985
46
The Beckwith-Wiedemann syndrome: a longitudinal study of the macroglossia and dentofacial complex. (3877094)
1985
47
A case of Beckwith-Wiedemann syndrome with conductive hearing loss. (6741543)
1984
48
Orthodontic findings in a case of Beckwith-Wiedemann syndrome. (6597842)
1984
49
Metabolic aspects of the Beckwith-Wiedemann syndrome. (4684368)
1973
50
Letter: Pseudo-Beckwith-Wiedemann syndrome: interaction with maternal diabetes. (4126952)
1973

Genetic Variations for Beckwith-Wiedemann Syndrome

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Expression for genes affiliated with Beckwith-Wiedemann Syndrome

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

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Pathways for genes affiliated with Beckwith-Wiedemann Syndrome

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Compounds for genes affiliated with Beckwith-Wiedemann Syndrome

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44Novoseek
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Compounds related to Beckwith-Wiedemann Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cysteine4410.2CARS, IGF2, RRM1, TSPAN32, SMPD1, KCNQ1
2nap-24410.2NAP1L4, IGF2, H19, KCNQ1
3apai4410.1IGF2, H19

GO Terms for genes affiliated with Beckwith-Wiedemann Syndrome

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16Gene Ontology
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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
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61UMLS via Orphanet