BWS
MCID: BCK002
MIFTS: 67

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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43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 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 hepatoblastoma and wilms tumor, and has symptoms including loose skin/skin relaxation/excess skin/creases, diaphragmatic hernia/defect/agenesis and soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma. 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 tongue, adrenal gland and skin, and related mouse phenotypes are respiratory system 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:65 Beckwith?Wiedemann syndrome (/?b?k?w?? ?vi?d?.m?n/; abbreviated BWS) is an overgrowth disorder usually... more...

Description from OMIM:47 130650

GeneReviews summary for bws

Aliases & Classifications for Beckwith-Wiedemann Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 20GeneTests, 22GTR, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
beckwith-wiedemann syndrome:
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

beckwith-wiedemann syndrome 8 9 19 43 21 47 10 45 49 62
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-CT58 81780002
MESH via Orphanet36 D001506
ICD10 via Orphanet26 Q87.3
SNOMED-CT via Orphanet59 81780002
UMLS via Orphanet63 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 118)
idRelated DiseaseScoreTop Affiliating Genes
1hepatoblastoma31.3IGF2, H19, SLC22A18, CDKN1C
2wilms tumor31.2IGF2, KCNQ1OT1, NAP1L4, CDKN1C, WT2, SLC22A18
3silver-russell syndrome31.1H19, IGF2
4omphalocele31.1IGF2, CDKN1C
5hemihypertrophy31.0CDKN1C, IGF2, SMPD1, H19
6rhabdomyosarcoma30.9H19, STIM1, SLC22A18, IGF2
7adrenocortical carcinoma30.8H19, CDKN1C, IGF2
8adenoma30.7CDKN1C, IGF2, H19, SMPD1
9adrenal adenoma30.7CDKN1C, IGF2, H19
10rhabdoid tumor30.4IGF2, STIM1
11macroglossia10.9
12pancreatitis10.7
13pancreatoblastoma10.6
14gigantism10.6
15neuroblastoma10.5
16medullary sponge kidney10.5
17cleft palate10.5
18hyperinsulinism10.5
19sotos syndrome10.5
20leukemia10.5
21beckwith-wiedemann syndrome due to cdkn1c mutation10.5
22urethritis10.4
23alveolar rhabdomyosarcoma10.4
24hypoglycemia10.4
25aniridia10.4
26hepatitis10.4
27hypertension10.4
28renal cell carcinoma10.4
29pheochromocytoma10.4
30neural crest tumor10.4
31prune belly syndrome10.4
32beckwith-wiedemann syndrome due to 11p15 microdeletion10.4
33beckwith-wiedemann syndrome due to 11p15 translocation/inversion10.4
34beckwith-wiedemann syndrome due to imprinting defect of 11p1510.4
35beckwith-wiedemann syndrome due to nsd1 mutation10.4
36beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 1110.4
37beckwith-wiedemann syndrome due to 11p15 microduplication10.4
38megakaryocytic leukemia10.2
39chorioangioma10.2
40meckel's diverticulum10.2
41atypical teratoid rhabdoid tumor10.2
42fibroma10.2
43neonatal diabetes mellitus10.2
44premature ovarian failure10.2
45intussusception10.2
46tetralogy of fallot10.2
47pyoderma gangrenosum10.2
48hypertrophic cardiomyopathy10.2
49diaphragmatic eventration10.2
50intraneural perineurioma10.2

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

130650

Clinical features from OMIM:

130650

Symptoms:

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

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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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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33MalaCards
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MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

33
Tongue, Adrenal gland, Skin, Liver, Testes, Kidney, Pancreas, Placenta, Breast, Brain, Adrenal cortex, Bone, Lung, Myeloid, Pancreatic islet, Cortex

Animal Models for Beckwith-Wiedemann Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Beckwith-Wiedemann Syndrome:

37
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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52PubMed
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Articles related to Beckwith-Wiedemann Syndrome:

(show top 50)    (show all 461)
idTitleAuthorsYear
1
Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology. (24325814)
2013
2
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. (23892181)
2013
3
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. (23197429)
2013
4
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (22795092)
2012
5
Beckwith-Wiedemann syndrome, delayed abdominal wall closure, and neonatal intussusception--case report and literature review. (22483344)
2012
6
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes. (21068742)
2011
7
Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. (20459838)
2010
8
Recognition and management of the infant with Beckwith-Wiedemann Syndrome. (20010144)
2009
9
Benign paroxysmal tonic upgaze of childhood in a hypotonic infant with Beckwith-Wiedemann syndrome. (18412602)
2008
10
Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. (16053907)
2005
11
Bilateral adrenal cysts and ectopic pancreatic tissue in Beckwith-Wiedemann syndrome: is a conservative approach acceptable? (15270410)
2004
12
Bilateral benign haemorrhagic adrenal cysts in Beckwith-Wiedemann syndrome: case report. (15080519)
2004
13
Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylation. (15057946)
2004
14
Prenatally detected cystic adrenal mass associated with Beckwith-Wiedemann syndrome. (15539867)
2004
15
Antenatal manifestation of congenital pancreatoblastoma in a fetus with Beckwith-Wiedemann syndrome. (12673632)
2003
16
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. (12970646)
2003
17
Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. (11813134)
2002
18
A neonate with Beckwith-Wiedemann syndrome who developed upper airway obstruction after glossopexy]. (11840663)
2002
19
Bilateral asynchronous adrenal adenoma in a girl with an incomplete form of Beckwith-Wiedemann syndrome. (11271390)
2001
20
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. (11826361)
2001
21
Joint laxity, scoliosis, and thoracic cage abnormalities in children with Beckwith-Wiedemann syndrome. (11271391)
2001
22
Pseudo-partial moles: placental stem vessel hydrops and the association with Beckwith-Wiedemann syndrome and complete moles. (11737301)
2001
23
A Meckel's diverticulum containing pancreatic tissue and nesidioblastosis in a patient with Beckwith-Wiedemann syndrome. (10663860)
2000
24
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. (11106355)
2000
25
Sudden death in an 8-week-old infant with Beckwith-Wiedemann syndrome. (10990293)
2000
26
Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome. (10857747)
2000
27
Ruptured arteriovenous malformation in a boy with Beckwith-Wiedemann syndrome. (10708360)
1999
28
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
29
Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. (9260520)
1997
30
Prenatal diagnosis of Beckwith-Wiedemann syndrome. (9016239)
1997
31
Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. (9349812)
1997
32
Molecular genetics of Beckwith-Wiedemann syndrome. (9425596)
1997
33
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. (9350814)
1997
34
Beckwith-Wiedemann syndrome. (9282500)
1997
35
An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. (8841187)
1996
36
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
37
Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. (7712645)
1995
38
Sonographic appearance of placental villous hydrops associated with Beckwith-Wiedemann syndrome. (7707480)
1995
39
Beckwith-Wiedemann syndrome. An update and review for the primary pediatrician. (7656512)
1995
40
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. (7820926)
1994
41
Beckwith-Wiedemann syndrome and the insulin-like growth factor-II gene. Does the genotype explain the phenotype? (7943167)
1994
42
Beckwith-Wiedemann Syndrome (20301568)
1993
43
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
44
Molecular investigation of familial Beckwith-Wiedemann syndrome: a model for paternal imprinting. (8055321)
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:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1H19H19, 1.8-KB DELdeletionPathogenic/card/beckwith_wiedemann_syndrome
2H19H19, 5.3-KB DELdeletionPathogenic/card/beckwith_wiedemann_syndrome
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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Compounds related to Beckwith-Wiedemann Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1apai4510.1H19, IGF2
25-aza-2deoxycytidine459.8IGF2, H19, CDKN1C
3acth459.8CDKN1C, H19, IGF2
4rsai459.7H19, IGF2
5nap-2459.4H19, NAP1L4, KCNQ1, IGF2
6tyrosine458.3IGF2, KCNQ1, SMPD1, RRM1, TSPAN32, H19
7cysteine458.2IGF2, KCNQ1, SMPD1, RRM1, TSPAN32, CARS

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
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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
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