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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42NIH Rare Diseases, 21Genetics Home Reference, 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, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 20GeneTests, 22GTR, 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

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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
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. (23892181)
2013
2
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. (22015620)
2012
3
A review of the urologic manifestations of Beckwith-Wiedemann syndrome. (20637700)
2011
4
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome. (21571108)
2011
5
Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith-Wiedemann syndrome. (20079942)
2010
6
Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation. (20826236)
2010
7
Is it the patient or the IVF? Beckwith-Wiedemann syndrome in both spontaneous and assisted reproductive conceptions. (20338562)
2010
8
Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome. (20739274)
2010
9
Recognition and management of the infant with Beckwith-Wiedemann Syndrome. (20010144)
2009
10
Beckwith-Wiedemann syndrome in association with posterior hypoplasia of the cerebellar vermis. (19530105)
2009
11
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. (19073614)
2009
12
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. (19092779)
2009
13
Beckwith-Wiedemann syndrome associated with haemodynamically significant Tetralogy of Fallot. (20183935)
2009
14
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele. (18395877)
2008
15
Placental mesenchymal dysplasia with beckwith-wiedemann syndrome fetus in the context of biparental and androgenic cell lines. (18342934)
2008
16
Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. (18546283)
2008
17
Beckwith Wiedemann syndrome: presentation of a case report. (18830172)
2008
18
Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome. (16708166)
2006
19
A third case of cardiac neoplasm in a fetus with Beckwith-Wiedemann syndrome: epicardial angiofibroma. (15608459)
2005
20
Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report. (16370286)
2005
21
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. (15314640)
2004
22
Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. (15372379)
2004
23
Thoracic neural crest tumors in Beckwith-Wiedemann syndrome. (14515390)
2003
24
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. (12019213)
2002
25
Treatment of macroglossia in a child with Beckwith-Wiedemann syndrome. (10981990)
2000
26
Analysis of CDKN1C in Beckwith Wiedemann syndrome. (10862080)
2000
27
Genomic imprinting and chromatin insulation in Beckwith-Wiedemann syndrome. (10464770)
1999
28
Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. (9725306)
1998
29
Beckwith-Wiedemann syndrome and splenic hemangioma: report of a case. (9094248)
1997
30
An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. (8841187)
1996
31
Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. (8968759)
1996
32
Anesthetic considerations of two sisters with Beckwith-Wiedemann syndrome. (10323122)
1996
33
Congenital stapedial fixation associated with Beckwith--Wiedemann syndrome: two cases of a woman and her brother. (8694112)
1996
34
Bone invasion by a recurrent digital fibroma of infancy in a child with Beckwith-Wiedemann syndrome. (8736604)
1995
35
Beckwith-Wiedemann syndrome, placental abnormalities, and gestational proteinuric hypertension. (8159359)
1994
36
Beckwith-Wiedemann Syndrome (20301568)
1993
37
Discrete subvalvular aortic stenosis in the Beckwith-Wiedemann syndrome. (8415229)
1993
38
Anesthetic considerations of an infant with Beckwith-Wiedemann syndrome. (1457118)
1992
39
Benign hemorrhagic adrenocortical macrocysts in Beckwith-Wiedemann syndrome. (1872243)
1991
40
Prenatal ultrasound diagnosis of Beckwith-Wiedemann syndrome. (2170462)
1990
41
In utero prenatal diagnosis of Beckwith-Wiedemann syndrome; a case report. (2676642)
1989
42
Macroglossia and ankyloglossia in Beckwith-Wiedemann syndrome. (3422394)
1988
43
Pyelocalyceal diverticula in the Beckwith-Wiedemann syndrome. (3547280)
1987
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
The pre and postnatal appearance of the kidneys in Beckwith-Wiedemann Syndrome. (6882298)
1983
47
A case of Beckwith-Wiedemann syndrome. (7036943)
1982
48
Wilms' tumor in a patient with an incomplete form of Beckwith-Wiedemann syndrome. (6250123)
1980
49
Breast fibroadenoma and cardiac anomaly associated with EMG (Beckwith-Wiedemann) syndrome. (430311)
1979
50
The Beckwith-Wiedemann syndrome. The exomphalos-macroglossia-gigantism syndrome. (4827141)
1974

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
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
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43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
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