BWS
MCID: BCK002
MIFTS: 68

Beckwith-Wiedemann Syndrome (BWS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases, Cancer diseases categories
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Summaries for Beckwith-Wiedemann Syndrome

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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.

MalaCards based summary: Beckwith-Wiedemann Syndrome, also known as wiedemann-beckwith syndrome, is related to hepatoblastoma and silver-russell syndrome, 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 apai and 5-aza-2deoxycytidine have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and tongue, and related mouse phenotypes are respiratory system and embryogenesis.

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. last updated: 8/8/2012

Wikipedia:65 Beckwith?Wiedemann syndrome (/?b?k?w?? ?vi?d?.m?n/; abbreviated BWS) is an overgrowth disorder usually... more...

Description from OMIM:46 130650

GeneReviews summary for bws

Aliases & Classifications for Beckwith-Wiedemann Syndrome

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Sources:
30LifeMap Discovery¬ģ, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 39NCIt, 34MeSH, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Beckwith-Wiedemann Syndrome, Aliases & Descriptions:

Name: Beckwith-Wiedemann Syndrome 30 8 9 19 42 21 46 10 44 48 62
Wiedemann-Beckwith Syndrome 19 42 20 22 21 48
Exomphalos-Macroglossia-Gigantism Syndrome 21 62
Emg Syndrome 42 21
 
Bws 21 48
Exomphalos Macroglossia Gigantism Syndrome 42
Exomphalos - Macroglossia - Gigantism 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
beckwith-wiedemann syndrome:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


External Ids:

Disease Ontology8 DOID:5572
NCIt39 C34415
OMIM46 130650
MeSH34 D001506
SNOMED-CT57 81780002
MESH via Orphanet35 D001506
ICD10 via Orphanet26 Q87.3
UMLS via Orphanet63 C0004903

Related Diseases for Beckwith-Wiedemann Syndrome

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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 119)
idRelated DiseaseScoreTop Affiliating Genes
1hepatoblastoma31.6IGF2, H19, SLC22A18, CDKN1C
2silver-russell syndrome31.5H19, IGF2
3omphalocele31.5IGF2, CDKN1C
4adrenocortical carcinoma31.1H19, CDKN1C, IGF2
5rhabdomyosarcoma31.0H19, STIM1, SLC22A18, IGF2
6adrenal adenoma31.0H19, IGF2, CDKN1C
7hemihypertrophy31.0CDKN1C, IGF2, SMPD1, H19
8wilms tumor30.9IGF2, KCNQ1OT1, NAP1L4, CDKN1C, WT2, SLC22A18
9rhabdoid tumor30.6IGF2, STIM1
10adenoma30.3CDKN1C, IGF2, H19, SMPD1
11macroglossia10.9
12pancreatitis10.7
13pancreatoblastoma10.6
14gigantism10.6
15hyperinsulinism10.6
16neuroblastoma10.6
17medullary sponge kidney10.6
18wilms tumor 210.5H19
19hepatitis10.5
20leukemia10.5
21sotos syndrome10.5
22cleft palate10.5
23hypoglycemia10.5
24beckwith-wiedemann syndrome due to cdkn1c mutation10.5
25hypertension10.4
26renal cell carcinoma10.4
27urethritis10.4
28aniridia10.4
29alveolar rhabdomyosarcoma10.4
30sleep disorder10.4
31pheochromocytoma10.4
32neural crest tumor10.4
33prune belly syndrome10.4
34beckwith-wiedemann syndrome due to 11p15 microdeletion10.4
35beckwith-wiedemann syndrome due to 11p15 translocation/inversion10.4
36beckwith-wiedemann syndrome due to imprinting defect of 11p1510.4
37beckwith-wiedemann syndrome due to nsd1 mutation10.4
38beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 1110.4
39beckwith-wiedemann syndrome due to 11p15 microduplication10.4
40embryonal cancer10.4IGF2, H19
41gestational trophoblastic tumor10.3CDKN1C, H19
42gestational trophoblastic neoplasm10.3PHLDA2, CDKN1C
43embryonal rhabdomyosarcoma10.3H19, IGF2
44adrenal cortical adenoma10.3CDKN1C, IGF2, H19
45acute lymphocytic leukemia10.2
46acute myeloid leukemia10.2
47cystinuria10.2
48diabetes mellitus10.2
49hemangioma10.2
50megakaryocytic leukemia10.2

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



Diseases related to beckwith-wiedemann syndrome

Symptoms for Beckwith-Wiedemann Syndrome

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Symptoms by clinical synopsis from OMIM:

130650

Clinical features from OMIM:

130650

Symptoms:

48 (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

HPO human phenotypes related to Beckwith-Wiedemann Syndrome:

(show all 57)
id Description Frequency HPO Source Accession
1 tall stature hallmark (90%) HP:0000098
2 cryptorchidism typical (50%) HP:0000028
3 nephropathy typical (50%) HP:0000112
4 wide mouth typical (50%) HP:0000154
5 abnormality of the tongue typical (50%) HP:0000157
6 malar flattening typical (50%) HP:0000272
7 abnormality of periauricular region typical (50%) HP:0000383
8 congenital diaphragmatic hernia typical (50%) HP:0000776
9 cutis laxa typical (50%) HP:0000973
10 melanocytic nevus typical (50%) HP:0000995
11 umbilical hernia typical (50%) HP:0001537
12 omphalocele typical (50%) HP:0001539
13 cardiomegaly typical (50%) HP:0001640
14 exocrine pancreatic insufficiency typical (50%) HP:0001738
15 hypoglycemia typical (50%) HP:0001943
16 anterior creases of earlobe typical (50%) HP:0009908
17 abnormality of the helix typical (50%) HP:0011039
18 asymmetric growth typical (50%) HP:0100555
19 polycystic kidney dysplasia occasional (7.5%) HP:0000113
20 cleft palate occasional (7.5%) HP:0000175
21 hypothyroidism occasional (7.5%) HP:0000821
22 abnormality of the adrenal glands occasional (7.5%) HP:0000834
23 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
24 splenomegaly occasional (7.5%) HP:0001744
25 apnea occasional (7.5%) HP:0002104
26 neurological speech impairment occasional (7.5%) HP:0002167
27 hepatomegaly occasional (7.5%) HP:0002240
28 neoplasm of the liver occasional (7.5%) HP:0002896
29 neuroblastoma occasional (7.5%) HP:0003006
30 sarcoma occasional (7.5%) HP:0100242
31 urogenital fistula occasional (7.5%) HP:0100589
32 dandy-walker malformation rare (5%) HP:0001305
33 autosomal dominant inheritance HP:0000006
34 cryptorchidism HP:0000028
35 enlarged kidneys HP:0000105
36 gonadoblastoma HP:0000150
37 macroglossia HP:0000158
38 large fontanelles HP:0000239
39 prominent occiput HP:0000269
40 coarse facial features HP:0000280
41 proptosis HP:0000520
42 abnormality of the ear HP:0000598
43 hemihypertrophy HP:0001528
44 omphalocele HP:0001539
45 diastasis recti HP:0001540
46 overgrowth HP:0001548
47 cardiomyopathy HP:0001638
48 cardiomegaly HP:0001640
49 neonatal hypoglycemia HP:0001998
50 hepatomegaly HP:0002240
51 nephroblastoma (wilms tumor) HP:0002667
52 hepatoblastoma HP:0002884
53 overgrowth of external genitalia HP:0003247
54 accelerated skeletal maturation HP:0005616
55 pancreatic hyperplasia HP:0006277
56 adrenocortical carcinoma HP:0006744
57 adrenocortical cytomegaly HP:0008186

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

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Drug clinical trials:

Search ClinicalTrials for Beckwith-Wiedemann Syndrome

Search NIH Clinical Center for Beckwith-Wiedemann Syndrome

Genetic Tests for Beckwith-Wiedemann Syndrome

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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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MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

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

Animal Models for Beckwith-Wiedemann Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Beckwith-Wiedemann Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1CDKN1C, STIM1, SMPD1, KCNQ1OT1, IGF2
2MP:00053809.0IGF2, KCNQ1OT1, NSD1, H19, PHLDA2, CDKN1C
3MP:00053788.3CDKN1C, IGF2, KCNQ1, KCNQ1OT1, SMPD1, STIM1
4MP:00053848.3IGF2, KCNQ1OT1, SMPD1, STIM1, H19, PHLDA2

Publications for Beckwith-Wiedemann Syndrome

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Articles related to Beckwith-Wiedemann Syndrome:

(show top 50)    (show all 482)
idTitleAuthorsYear
1
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome. (24916376)
2014
2
Fetal intracardiac rhabdomyoma in beckwith-wiedemann syndrome. (24752985)
2014
3
Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann Syndrome. (25339544)
2014
4
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission. (24996904)
2014
5
Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology. (24325814)
2013
6
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. (23892181)
2013
7
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. (23197429)
2013
8
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (22795092)
2012
9
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes. (21068742)
2011
10
Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. (20459838)
2010
11
Recognition and management of the infant with Beckwith-Wiedemann Syndrome. (20010144)
2009
12
Benign paroxysmal tonic upgaze of childhood in a hypotonic infant with Beckwith-Wiedemann syndrome. (18412602)
2008
13
Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. (16053907)
2005
14
Bilateral adrenal cysts and ectopic pancreatic tissue in Beckwith-Wiedemann syndrome: is a conservative approach acceptable? (15270410)
2004
15
Bilateral benign haemorrhagic adrenal cysts in Beckwith-Wiedemann syndrome: case report. (15080519)
2004
16
Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylation. (15057946)
2004
17
Antenatal manifestation of congenital pancreatoblastoma in a fetus with Beckwith-Wiedemann syndrome. (12673632)
2003
18
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. (12970646)
2003
19
Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. (11813134)
2002
20
A neonate with Beckwith-Wiedemann syndrome who developed upper airway obstruction after glossopexy]. (11840663)
2002
21
Bilateral asynchronous adrenal adenoma in a girl with an incomplete form of Beckwith-Wiedemann syndrome. (11271390)
2001
22
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. (11826361)
2001
23
Joint laxity, scoliosis, and thoracic cage abnormalities in children with Beckwith-Wiedemann syndrome. (11271391)
2001
24
A Meckel's diverticulum containing pancreatic tissue and nesidioblastosis in a patient with Beckwith-Wiedemann syndrome. (10663860)
2000
25
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. (11106355)
2000
26
Sudden death in an 8-week-old infant with Beckwith-Wiedemann syndrome. (10990293)
2000
27
Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome. (10857747)
2000
28
Ruptured arteriovenous malformation in a boy with Beckwith-Wiedemann syndrome. (10708360)
1999
29
Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. (10220444)
1999
30
Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. (9260520)
1997
31
Prenatal diagnosis of Beckwith-Wiedemann syndrome. (9016239)
1997
32
Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. (9349812)
1997
33
Molecular genetics of Beckwith-Wiedemann syndrome. (9425596)
1997
34
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. (9350814)
1997
35
Beckwith-Wiedemann syndrome. (9282500)
1997
36
An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. (8841187)
1996
37
Seven megabase yeast artificial chromosome contig at region 11p15: identification of a yeast artificial chromosome spanning the breakpoint of a chromosomal translocation found in a case of Beckwith-Wiedemann syndrome. (7796419)
1995
38
Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. (7712645)
1995
39
Sonographic appearance of placental villous hydrops associated with Beckwith-Wiedemann syndrome. (7707480)
1995
40
Beckwith-Wiedemann syndrome. An update and review for the primary pediatrician. (7656512)
1995
41
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. (7820926)
1994
42
Beckwith-Wiedemann syndrome and the insulin-like growth factor-II gene. Does the genotype explain the phenotype? (7943167)
1994
43
Beckwith-Wiedemann Syndrome (20301568)
1993
44
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. (8518793)
1993
45
A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly and prune belly syndrome. (2289313)
1990
46
Macroglossia and ankyloglossia in Beckwith-Wiedemann syndrome. (3422394)
1988
47
Pyelocalyceal diverticula in the Beckwith-Wiedemann syndrome. (3547280)
1987
48
An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13----pter.: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome. (3613243)
1986
49
Two cases of Beckwith-Wiedemann syndrome, one with hemihypertrophy. (6932218)
1980
50
Radiology of the Beckwith-Wiedemann syndrome. (5044404)
1972

Variations for Beckwith-Wiedemann Syndrome

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Clinvar genetic disease variations for Beckwith-Wiedemann Syndrome:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1H19H19, 1.8-KB DELdeletionPathogenic
2H19H19, 5.3-KB DELdeletionPathogenic
3CDKN1CNM_000076.2(CDKN1C): c.845C> G (p.Ser282Ter)single nucleotide variantPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
4CDKN1CNM_000076.2(CDKN1C): c.845C> A (p.Ser282Ter)single nucleotide variantPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
5NSD1NSD1, 1-BP INS, 4976GinsertionPathogenic
6NSD1NSD1, 4-BP DEL, 7968GACAdeletionPathogenic
7KCNQ1OT1KCNQ1OT1, DELdeletionPathogenic
8CDKN1CNM_000076.2(CDKN1C): c.139C> T (p.Gln47Ter)single nucleotide variantPathogenicrs137852766GRCh37Chr 11, 2906581: 2906581
9CDKN1CCDKN1C, 1-BP DEL/2-BP INS, 1086T-AGindelPathogenic
10CDKN1CNM_000076.2(CDKN1C): c.310_311delCTinsG (p.Leu104Glyfs)indelPathogenicrs387906399GRCh37Chr 11, 2906409: 2906410
11CDKN1CNM_000076.2(CDKN1C): c.740C> A (p.Ser247Ter)single nucleotide variantPathogenicrs104894200GRCh37Chr 11, 2905980: 2905980

Expression for genes affiliated with Beckwith-Wiedemann Syndrome

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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

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Compounds for genes affiliated with Beckwith-Wiedemann Syndrome

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

idCompoundScoreTop Affiliating Genes
1apai4410.1H19, IGF2
25-aza-2deoxycytidine449.8IGF2, H19, CDKN1C
3acth449.8CDKN1C, H19, IGF2
4rsai449.7H19, IGF2
5nap-2449.4H19, NAP1L4, KCNQ1, IGF2
6tyrosine448.3IGF2, KCNQ1, SMPD1, RRM1, TSPAN32, H19
7cysteine448.2IGF2, KCNQ1, SMPD1, RRM1, TSPAN32, CARS

GO Terms for genes affiliated with Beckwith-Wiedemann Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1placenta developmentGO:00189010.0CDKN1C, PHLDA2
2regulation of gene expression by genetic imprintingGO:0063499.6KCNQ1, IGF2

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet