BWS
MCID: BCK002
MIFTS: 62

Beckwith-Wiedemann Syndrome (BWS)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Beckwith-Wiedemann Syndrome

MalaCards integrated aliases for Beckwith-Wiedemann Syndrome:

Name: Beckwith-Wiedemann Syndrome 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Wiedemann-Beckwith Syndrome 56 24 52 25 58
Bws 56 25 58 73
Exomphalos-Macroglossia-Gigantism Syndrome 56 58 73
Emg Syndrome 56 52 73
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation 58 6
Emg Abnormality 29 6
Beckwith-Wiedemann Syndrome Due to Nsd1 Mutation 58
Exomphalos Macroglossia Gigantism Syndrome 52
Macroglossia Exomphalos Gigantism 74
Wiedemann-Beckwith Syndrome; Wbs 56
Wbs 56

Characteristics:

Orphanet epidemiological data:

58
beckwith-wiedemann syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: adolescent,late childhood;
beckwith-wiedemann syndrome due to cdkn1c mutation
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
imprinted disorder
most cases are isolated
wide phenotypic spectrum
associated with assisted reproductive technologies
occurs in 1 in 10,500 live births
imprinting at 11p15.5


HPO:

31
beckwith-wiedemann syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance in familial cases is high if the parent-of-origin effect of imprinted domains is considered. for example, a person may inherit a cdkn1c pathogenic variant but have no features of bws because the cdkn1c pathogenic variant was on the paternally derived allele, which is normally not expressed (i.e., the pathogenic variant is silenced by the normal imprinting process).

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Beckwith-Wiedemann Syndrome

NIH Rare Diseases : 52 Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Babies and children are larger than normal usually until age 8, when growth slows down, resulting in an average height in adults. Symptoms may include one side or area of the body growing more than the other side (asymmetric growth or hemihyperplasia ), omphalocele or other abdominal wall defect at birth, low blood sugar (hypoglycemia) in infancy, an abnormally large tongue (macroglossia), abnormally large abdominal organs , creases or pits in the skin near the ears, and kidney abnormalities. Affected children have an increased risk to develop tumors , particularly a rare form of kidney cancer called Wilms tumor , a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma . Some people only have one symptom while others may have many of the symptoms. The cause of BWS is complex and is different for different people, but involves genes that control body growth. The genes, including the CDKN1C , H19 , IGF2 , and KCNQ1OT1 genes, are located on chromosome 11. In most cases BWS is caused by problems with the genomic imprinting of these genes. Genomic imprinting refers to having some genes that are active (expressed) only when inherited from the father and others that are active only when inherited from the mother. Less commonly, changes or mutations in the CDKN1C gene or larger changes to chromosome 11, such as a translocation , deletion , or duplication , may cause BWS. Diagnosis of BWS is based on symptoms with the support of genetic testing . At present however, there is no clearly accepted diagnostic criteria as doctors are trying to understand the full spectrum of possible symptoms. While there is no cure for BWS, there are treatments available for many of the symptoms. Treatment may include medication for hypoglycemia, surgery to repair an omphalocele or other birth defect , or surgery to reduce size of the tongue (macroglossia repair). Early intervention, speech therapy, occupational therapy, and physical therapy may also be recommended. Evaluation by an orthopedic surgeon may be helpful depending on the areas of the body affected by overgrowth. Recommended management of BWS includes screening for the development of Wilms tumor, rhabdomyosarcoma, and hepatoblastoma.

MalaCards based summary : Beckwith-Wiedemann Syndrome, also known as wiedemann-beckwith syndrome, is related to beckwith-wiedemann syndrome due to imprinting defect of 11p15 and hemihyperplasia, isolated. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways is Cell cycle. The drugs Acetylcholine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include Kidney, tongue and liver, and related phenotypes are tall stature and large for gestational age

Disease Ontology : 12 A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.

Genetics Home Reference : 25 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 tend to be taller than their peers 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 on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time. The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities. Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood. Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.

OMIM : 56 Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010). Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder. (130650)

KEGG : 36 Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in a cluster of imprinted genes found within a genomic region of approximately one megabase on chromosome 11p15. The imprinted region 11p15 is separated into two domains, with each domain regulated by a functionally independent imprinting control regions (ICR). The centromeric ICR2 regulates the expression of CDKN1C, KCNQ1, and further genes. The majority of cases of BWS show hypomethylation in the ICR2 or mutations in the ICR2-regulated CDKN1C gene. In intron 10 of the KCNQ1 locus, the untranslated KCNQ1OT1 RNA is encoded. KCNQ10T1 is expressed by the paternal allele and probably represses realization of the CDKN1C gene. In the telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to NSD1 deletions or mutations.

UniProtKB/Swiss-Prot : 73 Beckwith-Wiedemann syndrome: A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.

Wikipedia : 74 Beckwith-Wiedemann syndrome (/'b?k?w?? 'vi?d?.m?n/; abbreviated BWS) is an overgrowth disorder usually... more...

GeneReviews: NBK1394

Related Diseases for Beckwith-Wiedemann Syndrome

Diseases in the Beckwith-Wiedemann Syndrome family:

Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15
Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11

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

(show top 50) (show all 421)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome due to imprinting defect of 11p15 35.0 KCNQ1OT1 IGF2 H19
2 hemihyperplasia, isolated 34.3 KCNQ1OT1 IGF2 H19 CDKN1C
3 macroglossia 34.1 NSD1 CDKN1C
4 silver-russell syndrome 34.1 PHLDA2 NSD1 KCNQ1OT1 KCNQ1 IGF2 H19-ICR
5 hepatoblastoma 34.1 SLC22A18 IGF2 H19 CDKN1C
6 overgrowth syndrome 33.1 NSD1 IGF2 H19-ICR
7 wilms tumor 5 32.8 SLC22A18 NAP1L4 IGF2 H19 CDKN1C
8 omphalocele 32.8 NSD1 KCNQ1OT1 IGF2 CDKN1C
9 umbilical hernia 32.4 KCNQ1OT1 IGF2 H19 CDKN1C
10 rhabdomyosarcoma 32.2 SLC22A18 IGF2 H19 DMD CDKN1C
11 wilms tumor 1 32.1 KCNQ1OT1 IGF2-AS IGF2 H19 CTCF CDKN1C
12 hydatidiform mole, recurrent, 1 31.9 PHLDA2 H19 CDKN1C
13 gestational trophoblastic neoplasm 31.9 PHLDA2 H19 CDKN1C
14 transient neonatal diabetes mellitus 31.8 KCNQ1OT1 IGF2 CDKN1C
15 wilms tumor predisposition 31.7 NSD1 KCNQ1OT1 KCNQ1 IGF2 H19-ICR H19
16 fetal macrosomia 31.5 IGF2 H19
17 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 31.4 SLC22A18 PHLDA2 KCNQ1OT1 KCNQ1 CDKN1C
18 scoliosis 31.4 TRPV4 RYR1 NSD1 DMD CDKN1C
19 wilms tumor 2 31.3 H19-ICR H19
20 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 12.7
21 beckwith-wiedemann syndrome due to 11p15 microdeletion 12.6
22 beckwith-wiedemann syndrome due to 11p15 translocation/inversion 12.6
23 beckwith-wiedemann syndrome due to 11p15 microduplication 12.6
24 williams-beuren syndrome 12.3
25 adrenocortical carcinoma, hereditary 12.0
26 perlman syndrome 12.0
27 abdominal wall defect 11.9
28 simpson-golabi-behmel syndrome, type 1 11.9
29 7q11.23 duplication syndrome 11.7
30 omphalocele, autosomal 11.5
31 hypoinsulinemic hypoglycemia with hemihypertrophy 11.5
32 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
33 williams-beuren region duplication syndrome 11.2
34 hypoglycemia 11.1
35 gigantism 11.0
36 paternal uniparental disomy 10.9
37 neuroblastoma 10.8
38 silver-russell syndrome due to a point mutation 10.8 IGF2 CDKN1C
39 silver-russell syndrome due to 11p15 microduplication 10.8 IGF2 H19
40 silver-russell syndrome due to an imprinting defect of 11p15 10.8 IGF2 H19
41 spastic paraplegia 17, autosomal dominant 10.8 KCNQ1OT1 IGF2 CDKN1C
42 hyperinsulinism 10.8
43 chromosomal triplication 10.8
44 adrenal cortical carcinoma 10.7
45 diencephalic syndrome 10.7
46 pax6-related aniridia 10.7 IGF2 H19
47 polyhydramnios 10.7
48 adrenal cortical adenocarcinoma 10.7
49 gingival fibromatosis 10.7 KCNQ1 H19 CDKN1C
50 hyperinsulinemic hypoglycemia 10.7

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



Diseases related to Beckwith-Wiedemann Syndrome

Symptoms & Phenotypes for Beckwith-Wiedemann Syndrome

Human phenotypes related to Beckwith-Wiedemann Syndrome:

58 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
2 large for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001520
3 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
4 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
5 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
6 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
7 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
8 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
9 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
10 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
11 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
12 melanocytic nevus 58 31 frequent (33%) Frequent (79-30%) HP:0000995
13 exocrine pancreatic insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0001738
14 hypercalciuria 58 31 frequent (33%) Frequent (79-30%) HP:0002150
15 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
16 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
17 nevus flammeus 58 31 frequent (33%) Frequent (79-30%) HP:0001052
18 redundant skin 58 31 frequent (33%) Frequent (79-30%) HP:0001582
19 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776
20 branchial cyst 58 31 frequent (33%) Frequent (79-30%) HP:0009796
21 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
22 enlarged kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000105
23 choroideremia 58 31 frequent (33%) Frequent (79-30%) HP:0001139
24 hemihypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001528
25 omphalocele 58 31 frequent (33%) Frequent (79-30%) HP:0001539
26 neonatal hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001998
27 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
28 large placenta 58 31 frequent (33%) Frequent (79-30%) HP:0006267
29 posterior helix pit 58 31 frequent (33%) Frequent (79-30%) HP:0008523
30 anterior creases of earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0009908
31 subchorionic septal cyst 58 31 frequent (33%) Frequent (79-30%) HP:0030720
32 infra-orbital crease 58 31 frequent (33%) Frequent (79-30%) HP:0100876
33 abnormality of the shape of the midface 58 31 frequent (33%) Frequent (79-30%) HP:0430026
34 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
35 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
36 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
37 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
38 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
39 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
40 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
41 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
42 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
43 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
44 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
45 gonadoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000150
46 neurodevelopmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0012758
47 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
48 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
49 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
50 urogenital fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0100589

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia

Abdomen Liver:
hepatomegaly

Cardiovascular Heart:
cardiomegaly
cardiomyopathy

Neoplasia:
gonadoblastoma
hepatoblastoma
wilms tumor
adrenal carcinoma

Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
renal medullary dysplasia
medullary cysts
cortical cysts
more
Abdomen External Features:
diastasis recti
omphalocele (exomphalos)

Growth Other:
hemihypertrophy
generalized overgrowth

Genitourinary External Genitalia Female:
overgrowth of external genitalia

Head And Neck Eyes:
prominent eyes

Growth Weight:
average birth weight 4kg

Genitourinary Ureters:
ureteral enlargement

Neurologic Central Nervous System:
posterior fossa abnormalities (rare)
dandy-walker malformation (rare)
blake's pouch (rare)

Laboratory Abnormalities:
duplication or deletion at 11p15.5

Head And Neck Face:
coarse facial features
midface hypoplasia

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
prominent occiput
large fontanel
metopic ridge

Genitourinary Bladder:
vesicoureteral reflux

Skin Nails Hair Skin:
nevus flammeus

Endocrine Features:
adrenocortical cytomegaly
pituitary amphophil hyperplasia

Genitourinary External Genitalia Male:
overgrowth of external genitalia

Abdomen Pancreas:
pancreatic hyperplasia

Growth Height:
average birth length, 52.6cm
growth parallels curve at or above 95%

Head And Neck Ears:
linear ear lobe creases
posterior helical indentations

Skeletal:
advanced bone age, most pronounced during first 4 years

Metabolic Features:
neonatal hyperinsulinemic hypoglycemia

Clinical features from OMIM:

130650

MGI Mouse Phenotypes related to Beckwith-Wiedemann Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 DMD GALC IGF2 KCNQ1 MFN2 RYR1

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

Drugs for Beckwith-Wiedemann Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
3
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
4
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
5 Neurotransmitter Agents Phase 2, Phase 3
6 incobotulinumtoxinA Phase 2, Phase 3
7 abobotulinumtoxinA Phase 2, Phase 3
8 Acetylcholine Release Inhibitors Phase 2, Phase 3
9 Neuromuscular Agents Phase 2, Phase 3
10 Botulinum Toxins Phase 2, Phase 3
11 Cholinergic Agents Phase 2, Phase 3
12 Botulinum Toxins, Type A Phase 2, Phase 3
13 Antibiotics, Antitubercular Phase 3
14 Anti-Infective Agents Phase 3
15 Antimitotic Agents Phase 3
16 Anti-Bacterial Agents Phase 3
17 Topoisomerase Inhibitors Phase 3
18
Liposomal doxorubicin Phase 3 31703
19
Dopamine Approved 51-61-6, 62-31-7 681
20 Dopamine Agents
21 Dihydroxyphenylalanine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Pilot Study to Treat Women With Chronic Urinary Retention or Voiding Dysfunction Due to a Primary Disorder of Sphincter Relaxation (Fowler's Syndrome) With Outpatient Urethral Injections of Botulinum Toxin A (BoNT-A) Completed NCT02428881 Phase 2, Phase 3 onabotulinumtoxinA
2 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
3 Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes Unknown status NCT01842659
4 Assessment of the Risk of Imprinting Defects in Children Born Following Assisted Reproductive Technologies (ART) Completed NCT00773825
5 International Pediatric Adrenocortical Tumor Registry Recruiting NCT00700414
6 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 Expanded Access Use of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
8 Hepatoblastoma Biology Study and Tissue Bank Withdrawn NCT00228683

Search NIH Clinical Center for Beckwith-Wiedemann Syndrome

Cochrane evidence based reviews: beckwith-wiedemann syndrome

Genetic Tests for Beckwith-Wiedemann Syndrome

Genetic tests related to Beckwith-Wiedemann Syndrome:

# Genetic test Affiliating Genes
1 Beckwith-Wiedemann Syndrome 29 CDKN1C H19 H19-ICR IGF2 KCNQ1 KCNQ1OT1
2 Emg Abnormality 29

Anatomical Context for Beckwith-Wiedemann Syndrome

MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

40
Kidney, Tongue, Liver, Skin, Thyroid, Testes, Breast
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Beckwith-Wiedemann Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Interstitial Stroma Interstitial Stroma Cells Affected by disease

Publications for Beckwith-Wiedemann Syndrome

Articles related to Beckwith-Wiedemann Syndrome:

(show top 50) (show all 1396)
# Title Authors PMID Year
1
Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. 54 61 24 56 6
15372379 2004
2
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. 54 61 24 56 6
15314640 2004
3
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. 54 61 56 6
20503313 2010
4
An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. 54 61 56 6
8841187 1996
5
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. 54 61 24 56
15743916 2005
6
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 54 61 24 56
14997421 2004
7
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 54 61 24 56
10424811 1999
8
New p57KIP2 mutations in Beckwith-Wiedemann syndrome. 54 61 24 6
9341892 1997
9
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine. 61 24 56
26138266 2016
10
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. 61 24 6
26592461 2016
11
Brain abnormalities in patients with Beckwith-Wiedemann syndrome. 61 24 56
22585446 2012
12
Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis. 61 24 56
15887271 2005
13
Beckwith-Wiedemann syndrome and IVF: a case-control study. 61 24 56
15284956 2004
14
In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. 61 24 56
12772698 2003
15
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. 61 24 56
12668598 2003
16
Hypercalciuria in Beckwith-Wiedemann syndrome. 61 24 56
12584548 2003
17
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). 61 24 56
12525545 2003
18
Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. 61 24 56
12439823 2003
19
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. 61 24 56
12019213 2002
20
Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. 61 24 56
11813134 2002
21
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. 61 24 56
11181570 2001
22
Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome. 61 24 56
10891834 2000
23
Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. 61 24 56
9725306 1998
24
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. 61 24 56
9350814 1997
25
Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. 61 24 56
2389800 1990
26
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. 61 24 56
3770742 1986
27
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. 24 6
18836444 2008
28
An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. 54 61 56
14645199 2004
29
Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome. 54 61 56
10958646 2000
30
Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome. 54 61 56
10777363 2000
31
CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance. 54 61 56
10424812 1999
32
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. 54 61 56
10220444 1999
33
Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome. 54 61 6
10323243 1999
34
Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. 54 61 56
9349812 1997
35
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. 54 61 56
9152830 1997
36
Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. 54 61 56
8968759 1996
37
Somatic overgrowth associated with overexpression of insulin-like growth factor II. 54 61 56
8612230 1996
38
Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. 54 61 56
7987305 1994
39
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. 54 61 56
8252039 1993
40
Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11. 54 61 56
1356785 1992
41
Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. 24 56
5434588 1970
42
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. 61 56
21863054 2012
43
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. 61 56
21920939 2012
44
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 61 56
19843502 2010
45
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. 61 56
20007505 2010
46
Beckwith-Wiedemann syndrome. 61 56
19550435 2010
47
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. 61 56
19755383 2009
48
The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region. 61 56
19684026 2009
49
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. 61 56
18245780 2008
50
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele. 54 61 24
18395877 2008

Variations for Beckwith-Wiedemann Syndrome

ClinVar genetic disease variations for Beckwith-Wiedemann Syndrome:

6 (show top 50) (show all 375) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSD1 NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter)SNV Pathogenic 159271 rs587784076 5:176637210-176637210 5:177210209-177210209
2 NSD1 NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter)SNV Pathogenic 159298 rs587784095 5:176638467-176638467 5:177211466-177211466
3 NSD1 NM_172349.2(NSD1):c.2850_2851AG[1] (p.Glu951fs)short repeat Pathogenic 159312 rs587784104 5:176639057-176639058 5:177212056-177212057
4 NSD1 NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter)SNV Pathogenic 159330 rs570278338 5:176673711-176673711 5:177246710-177246710
5 NSD1 NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter)SNV Pathogenic 159331 rs587784117 5:176673717-176673717 5:177246716-177246716
6 NSD1 NM_022455.4(NSD1):c.5431C>T (p.Arg1811Ter)SNV Pathogenic 159369 rs587784148 5:176696730-176696730 5:177269729-177269729
7 NSD1 NM_022455.4(NSD1):c.5951G>A (p.Arg1984Gln)SNV Pathogenic 159390 rs587784169 5:176709524-176709524 5:177282523-177282523
8 NSD1 NM_022455.4(NSD1):c.6013C>T (p.Arg2005Ter)SNV Pathogenic 159394 rs587784173 5:176710791-176710791 5:177283790-177283790
9 NSD1 NM_022455.4(NSD1):c.6454C>T (p.Arg2152Ter)SNV Pathogenic 159421 rs587784199 5:176719150-176719150 5:177292149-177292149
10 H19-ICR NG_016165.1:g.(170_?)_(?_2014)deldeletion Pathogenic 162492
11 H19-ICR NR_002196.1(H19):n.-7080_-1781deldeletion Pathogenic 162493 11:1999616-2004919
12 CDKN1C NM_001362475.2(CDKN1C):c.255+353_255+356delinsGGGindel Pathogenic 192357 rs786205240 11:2906076-2906079 11:2884846-2884849
13 CDKN1C NM_001362475.2(CDKN1C):c.255+323_255+347dupindel Pathogenic 192353 rs1554937847 11:2906084-2906085 11:2884854-2884855
14 CDKN1C NM_000076.2(CDKN1C):c.635del (p.Pro212fs)deletion Pathogenic 192356 rs786205237 11:2906085-2906085 11:2884855-2884855
15 CDKN1C NM_000076.2(CDKN1C):c.631delinsAA (p.Ala211fs)indel Pathogenic 192355 rs786205239 11:2906089-2906089 11:2884859-2884859
16 CDKN1C NM_000076.2(CDKN1C):c.629_630insGCTCCGGCCCC (p.Ala211fs)insertion Pathogenic 192354 rs786205241 11:2906090-2906091 11:2884860-2884861
17 CDKN1C NM_001362475.2(CDKN1C):c.255+161deldeletion Pathogenic 192352 rs786205234 11:2906271-2906271 11:2885041-2885041
18 NSD1 NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter)SNV Pathogenic 194672 rs794727176 5:176696631-176696631 5:177269630-177269630
19 NSD1 NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp)SNV Pathogenic 159397 rs587784176 5:176710827-176710827 5:177283826-177283826
20 NSD1 NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter)SNV Pathogenic 159412 rs587784190 5:176719045-176719045 5:177292044-177292044
21 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser)SNV Pathogenic 3144 rs120074193 11:2594100-2594100 11:2572870-2572870
22 KCNQ1OT1 KCNQ1OT1, DELdeletion Pathogenic 5825
23 CDKN1C NM_000076.2(CDKN1C):c.139C>T (p.Gln47Ter)SNV Pathogenic 8746 rs137852766 11:2906581-2906581 11:2885351-2885351
24 CDKN1C CDKN1C, 1-BP DEL/2-BP INS, 1086T-AGindel Pathogenic 8747
25 CDKN1C NM_000076.2(CDKN1C):c.310_311delinsG (p.Leu104fs)indel Pathogenic 8748 rs387906399 11:2906409-2906410 11:2885179-2885180
26 CDKN1C NM_000076.2(CDKN1C):c.740C>A (p.Ser247Ter)SNV Pathogenic 8749 rs104894200 11:2905980-2905980 11:2884750-2884750
27 RYR1 NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys)SNV Pathogenic 12989 rs118192174 19:38990601-38990601 19:38499961-38499961
28 COL7A1 NM_000094.3(COL7A1):c.706C>T (p.Arg236Ter)SNV Pathogenic 17462 rs121912854 3:48630348-48630348 3:48592915-48592915
29 CDKN1C NM_000076.2(CDKN1C):c.694C>T (p.Gln232Ter)SNV Pathogenic 210647 rs797045445 11:2906026-2906026 11:2884796-2884796
30 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659
31 H19 H19, 1.8-KB DELdeletion Pathogenic 18242
32 H19 H19, 5.3-KB DELdeletion Pathogenic 18243
33 CDKN1C NM_000076.2(CDKN1C):c.845C>A (p.Ser282Ter)SNV Pathogenic 18446 rs267606716 11:2905340-2905340 11:2884110-2884110
34 KCNQ1 NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter)SNV Pathogenic 52996 rs397508097 11:2790147-2790147 11:2768917-2768917
35 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp)SNV Pathogenic 52998 rs199472795 11:2797214-2797214 11:2775984-2775984
36 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His)SNV Pathogenic 53087 rs199472709 11:2593251-2593251 11:2572021-2572021
37 CDKN1C NM_001362475.2(CDKN1C):c.255+45dupduplication Pathogenic 132848 rs786205235 11:2906386-2906387 11:2885156-2885157
38 CDKN1C NM_001362475.2(CDKN1C):c.255+111dupduplication Pathogenic 132850 rs786205236 11:2906319-2906320 11:2885089-2885090
39 CDKN1C NM_000076.2(CDKN1C):c.*5+2T>CSNV Pathogenic 143246 rs587777866 11:2905227-2905227 11:2883997-2883997
40 NSD1 NM_022455.4(NSD1):c.3548_3549insGA (p.Glu1184fs)insertion Pathogenic 241434 rs878855075 5:176638948-176638949 5:177211947-177211948
41 NSD1 NM_022455.4(NSD1):c.5994del (p.Met1998fs)deletion Pathogenic 241436 rs878855077 5:176709567-176709567 5:177282566-177282566
42 NSD1 NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter)SNV Pathogenic 279857 rs886041218 5:176700744-176700744 5:177273743-177273743
43 DMD NM_004006.2(DMD):c.1637G>A (p.Trp546Ter)SNV Pathogenic 374191 rs1057518962 X:32591929-32591929 X:32573812-32573812
44 NSD1 NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter)SNV Pathogenic 378304 rs1057520339 5:176637762-176637762 5:177210761-177210761
45 NSD1 NM_022455.4(NSD1):c.2316_2329dup (p.Leu777fs)duplication Pathogenic 407358 rs1554189490 5:176637714-176637715 5:177210713-177210714
46 NSD1 NM_022455.4(NSD1):c.6426C>G (p.Tyr2142Ter)SNV Pathogenic 407363 rs1060501493 5:176719122-176719122 5:177292121-177292121
47 NSD1 NM_022455.4(NSD1):c.6487C>T (p.Gln2163Ter)SNV Pathogenic 407364 rs1060501494 5:176720856-176720856 5:177293855-177293855
48 NSD1 NM_022455.4(NSD1):c.880_881del (p.Glu294fs)deletion Pathogenic 407362 rs1060501492 5:176562983-176562984 5:177135982-177135983
49 NSD1 NM_022455.4(NSD1):c.1654del (p.Ser552fs)deletion Pathogenic 407367 rs1060501497 5:176637052-176637052 5:177210051-177210051
50 NSD1 NM_022455.4(NSD1):c.2619_2623del (p.Glu874fs)deletion Pathogenic 407360 rs1060501490 5:176638016-176638020 5:177211015-177211019

UniProtKB/Swiss-Prot genetic disease variations for Beckwith-Wiedemann Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 CDKN1C p.Leu53Pro VAR_075201 rs483352968
2 CDKN1C p.Pro70Leu VAR_075203 rs483352970

Copy number variations for Beckwith-Wiedemann Syndrome from CNVD:

7 (show all 12)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 48342 11 1 2800000 Microdeletions IGF2 Beckwith-Wiedemann syndrome
2 48343 14 23788159 23802256 Microduplication ICR2 Beckwith-Wiedemann syndrome
3 48345 11 1 2800000 Microduplication KCNQ1OT1 Beckwith-Wiedemann syndrome
4 48347 11 1 2800000 Microduplications ICR Beckwith-Wiedemann syndrome
5 48498 11 1 52900000 Methylation CDKN1C Beckwith-Wiedemann syndrome
6 48500 11 1 52900000 Methylation H19 Beckwith-Wiedemann syndrome
7 48503 11 1 52900000 Methylation IGF2 Beckwith-Wiedemann syndrome
8 63466 12 119100000 124500000 Microdeletion ACADS Beckwith-Wiedemann syndrome
9 63467 12 119100000 124500000 Microdeletion BCL7A Beckwith-Wiedemann syndrome
10 63468 12 119100000 124500000 Microdeletion HNF1A Beckwith-Wiedemann syndrome
11 63469 12 119100000 124500000 Microdeletion HPD Beckwith-Wiedemann syndrome
12 63470 12 119100000 124500000 Microdeletion P2RX7 Beckwith-Wiedemann syndrome

Expression for Beckwith-Wiedemann Syndrome

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

Pathways for Beckwith-Wiedemann Syndrome

Pathways related to Beckwith-Wiedemann Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Cell cycle hsa04110

GO Terms for Beckwith-Wiedemann Syndrome

Biological processes related to Beckwith-Wiedemann Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic placenta morphogenesis GO:0060669 8.96 IGF2 CDKN1C
2 regulation of gene expression by genetic imprinting GO:0006349 8.8 KCNQ1 IGF2 CTCF

Sources for Beckwith-Wiedemann Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....