BWS
MCID: BCK002
MIFTS: 61

Beckwith-Wiedemann Syndrome (BWS)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Beckwith-Wiedemann Syndrome

MalaCards integrated aliases for Beckwith-Wiedemann Syndrome:

Name: Beckwith-Wiedemann Syndrome 57 11 24 19 42 58 75 73 28 12 53 5 43 14 38 71
Wiedemann-Beckwith Syndrome 57 24 19 42 58
Bws 57 42 58 73
Exomphalos-Macroglossia-Gigantism Syndrome 57 58 73
Emg Syndrome 57 19 73
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation 58 5
Emg Abnormality 28 5
Beckwith-Wiedemann Syndrome Due to Nsd1 Mutation 58
Exomphalos Macroglossia Gigantism Syndrome 19
Macroglossia Exomphalos Gigantism 75
Wbs 57

Characteristics:


Inheritance:

Beckwith-Wiedemann Syndrome: Autosomal dominant 58 57
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation: Autosomal dominant 58

Prevelance:

1-9/100000 (Europe, Spain, Japan, Jamaica) 1-5/10000 (Italy) 58

Age Of Onset:

Beckwith-Wiedemann Syndrome: Antenatal,Neonatal 58
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


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

MedlinePlus Genetics: 42 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 larger than normal (macrosomia), and some may 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 body parts may grow abnormally large on one side of the body, 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.

MalaCards based summary: Beckwith-Wiedemann Syndrome, also known as wiedemann-beckwith syndrome, is related to hepatoblastoma and macroglossia. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). The drugs Acetylcholine and Vincristine 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

GARD: 19 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, changess 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.

OMIM®: 57 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.

Disease Ontology: 11 A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.

Wikipedia: 75 Beckwith-Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; 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 391)
# Related Disease Score Top Affiliating Genes
1 hepatoblastoma 33.1 SLC22A18 IGF2 H19 COL7A1 CDKN1C
2 macroglossia 33.1 NSD1 CDKN1C
3 hemihyperplasia, isolated 33.0 KCNQ1OT1 IGF2 H19 CDKN1C
4 silver-russell syndrome 1 32.9 WT2 SLC22A18 PHLDA2 KCNQ1OT1 KCNQ1 IGF2
5 beckwith-wiedemann syndrome due to imprinting defect of 11p15 32.8 KCNQ1OT1 IGF2 H19
6 omphalocele 32.4 NSD1 KCNQ1OT1 KCNQ1 IGF2 CDKN1C
7 wilms tumor 5 32.3 SLC22A18 NAP1L4 IGF2 H19 CDKN1C
8 wilms tumor 1 32.3 SLC22A18 KCNQ1OT1 KCNQ1 IGF2-AS IGF2 H19
9 umbilical hernia 31.9 KCNQ1OT1 IGF2 H19 CDKN1C
10 polyhydramnios 31.7 NAP1L4 KCNQ1 CDKN1C
11 rhabdomyosarcoma 31.7 SLC22A18 IGF2 H19 DMD CDKN1C
12 gestational trophoblastic neoplasm 31.5 PHLDA2 KCNQ1OT1 IGF2 H19 CDKN1C
13 hydatidiform mole, recurrent, 1 31.5 PHLDA2 H19 CDKN1C
14 transient neonatal diabetes mellitus 31.3 KCNQ1OT1 KCNQ1 IGF2 CDKN1C
15 sotos syndrome 31.1 NSD1 IGF2 CDKN1C
16 familial long qt syndrome 31.0 KCNQ1OT1 KCNQ1
17 embryonal rhabdomyosarcoma 31.0 SLC22A18 IGF2 H19
18 scoliosis 31.0 TRPV4 RYR1 NSD1 DMD CDKN1C
19 fetal macrosomia 31.0 IGF2 H19
20 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 30.9 SLC22A18 PHLDA2 KCNQ1OT1 KCNQ1 CDKN1C
21 spastic paraplegia 17, autosomal dominant 30.9 KCNQ1OT1 KCNQ1 IGF2 CDKN1C
22 wilms tumor 2 30.9 WT2 MRPL23 H19-ICR H19
23 adrenocortical carcinoma, hereditary 11.5
24 williams-beuren syndrome 11.5
25 beckwith-wiedemann syndrome due to 11p15 microdeletion 11.4
26 beckwith-wiedemann syndrome due to 11p15 translocation/inversion 11.4
27 beckwith-wiedemann syndrome due to 11p15 microduplication 11.4
28 gastroschisis 11.4
29 perlman syndrome 11.4
30 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 11.3
31 mosaic genome-wide paternal uniparental disomy 11.3
32 simpson-golabi-behmel syndrome, type 1 11.3
33 omphalocele, autosomal 11.3
34 williams-beuren region duplication syndrome 11.2
35 overgrowth syndrome 11.2
36 baraitser-winter syndrome 11.1
37 baraitser-winter cerebrofrontofacial syndrome 11.1
38 hypoglycemia 11.0
39 paternal uniparental disomy 10.9
40 acromegaly 10.9
41 ichthyosis, congenital, autosomal recessive 1 10.7
42 hyperinsulinism 10.7
43 bap1 tumor predisposition syndrome 10.7
44 hyperinsulinemic hypoglycemia, familial, 2 10.7
45 adrenal cortical carcinoma 10.7
46 diencephalic syndrome 10.6
47 hyperinsulinemic hypoglycemia 10.6
48 cleft palate, isolated 10.6
49 neuroblastoma 10.6
50 adrenal adenoma 10.6

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 30 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000098
2 large for gestational age 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001520
3 macroglossia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000158
4 coarse facial features 58 30 Frequent (33%) Frequent (79-30%)
HP:0000280
5 mandibular prognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000303
6 umbilical hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001537
7 nephropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000112
8 prominent occiput 58 30 Frequent (33%) Frequent (79-30%)
HP:0000269
9 obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001513
10 melanocytic nevus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000995
11 exocrine pancreatic insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0001738
12 polyhydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001561
13 hypercalciuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002150
14 proptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000520
15 wide mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000154
16 nevus flammeus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001052
17 redundant skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001582
18 congenital diaphragmatic hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000776
19 midface retrusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0011800
20 premature birth 58 30 Frequent (33%) Frequent (79-30%)
HP:0001622
21 enlarged kidney 58 30 Frequent (33%) Frequent (79-30%)
HP:0000105
22 choroideremia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001139
23 hemihypertrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001528
24 omphalocele 58 30 Frequent (33%) Frequent (79-30%)
HP:0001539
25 neonatal hypoglycemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001998
26 accelerated skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0005616
27 large placenta 58 30 Frequent (33%) Frequent (79-30%)
HP:0006267
28 posterior helix pit 58 30 Frequent (33%) Frequent (79-30%)
HP:0008523
29 anterior creases of earlobe 58 30 Frequent (33%) Frequent (79-30%)
HP:0009908
30 subchorionic septal cyst 58 30 Frequent (33%) Frequent (79-30%)
HP:0030720
31 infra-orbital crease 58 30 Frequent (33%) Frequent (79-30%)
HP:0100876
32 neurological speech impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002167
33 sleep apnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010535
34 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
35 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
36 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
37 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
38 feeding difficulties in infancy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008872
39 cardiomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001640
40 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
41 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
42 gonadoblastoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000150
43 neurodevelopmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012758
44 hypertrophic cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001639
45 nephrolithiasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000787
46 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
47 multiple renal cysts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005562
48 urogenital fistula 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100589
49 rhabdomyosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002859
50 leiomyosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100243

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Mouth:
macroglossia

Abdomen Liver:
hepatomegaly

Head And Neck Head:
prominent occiput
large fontanel
metopic ridge

Neoplasia:
gonadoblastoma
hepatoblastoma
wilms tumor
adrenal carcinoma

Genitourinary Bladder:
vesicoureteral reflux

Growth Other:
hemihypertrophy
generalized overgrowth

Endocrine Features:
adrenocortical cytomegaly
pituitary amphophil hyperplasia

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

Cardiovascular Heart:
cardiomegaly
cardiomyopathy

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Kidneys:
nephrolithiasis
nephrocalcinosis
renal medullary dysplasia
medullary cysts
cortical cysts
more
Skin Nails Hair Skin:
nevus flammeus

Abdomen External Features:
diastasis recti
omphalocele (exomphalos)

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Beckwith-Wiedemann Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CDKN1C COL6A1 DMD IGF2 KCNQ1 MFN2

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Electromyographic Study for the Help and Guidance of BoNTA Administration in the Treatment of Chronic Pelvic Floor Pain Completed NCT03715777 Phase 3 Clostridium botulinum type A (BoNTA)
2 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
3 Electrophysiological Changes in the Median Nerve in the Presence and Absence of the Palmaris Longus Unknown status NCT04619849
4 Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes Unknown status NCT01842659
5 Body Representation, Neuropsychological Profile and Socio-emotional Development in Children With Overgrowth Syndromes, With a Specific Focus on Functional Assessment of Patients With Beckwith-Wiedemann Syndrome and Sotos Syndrome Recruiting NCT04993235
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

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 28 CDKN1C H19-ICR IGF2 KCNQ1 KCNQ1OT1
2 Emg Abnormality 28

Anatomical Context for Beckwith-Wiedemann Syndrome

Organs/tissues related to Beckwith-Wiedemann Syndrome:

MalaCards : Kidney, Tongue, Liver, Skin, Placenta, Pancreas, Pituitary
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 1622)
# Title Authors PMID Year
1
Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. 53 62 24 57 5
15372379 2004
2
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. 53 62 24 57 5
15314640 2004
3
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. 53 62 24 57 5
10424811 1999
4
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. 53 62 57 5
20503313 2010
5
An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. 53 62 57 5
8841187 1996
6
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. 53 62 24 57
15743916 2005
7
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 53 62 24 57
14997421 2004
8
New p57KIP2 mutations in Beckwith-Wiedemann syndrome. 53 62 24 5
9341892 1997
9
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine. 62 24 57
26138266 2016
10
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. 62 24 5
26077438 2015
11
Brain abnormalities in patients with Beckwith-Wiedemann syndrome. 62 24 57
22585446 2012
12
Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis. 62 24 57
15887271 2005
13
Beckwith-Wiedemann syndrome and IVF: a case-control study. 62 24 57
15284956 2004
14
In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. 62 24 57
12772698 2003
15
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. 62 24 57
12668598 2003
16
Hypercalciuria in Beckwith-Wiedemann syndrome. 62 24 57
12584548 2003
17
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). 62 24 57
12525545 2003
18
Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. 62 24 57
12439823 2003
19
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. 62 24 57
12019213 2002
20
Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. 62 24 57
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. 62 24 57
11181570 2001
22
Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome. 62 24 57
10891834 2000
23
Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome. 62 24 57
9725306 1998
24
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. 62 24 57
9350814 1997
25
Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. 62 24 57
2389800 1990
26
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. 62 24 57
3770742 1986
27
Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. 62 24 57
5434588 1970
28
CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. 53 62 5
19386358 2009
29
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. 24 5
18836444 2008
30
An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. 53 62 57
14645199 2004
31
Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome. 53 62 57
10958646 2000
32
Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome. 53 62 57
10777363 2000
33
CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance. 53 62 57
10424812 1999
34
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. 53 62 57
10220444 1999
35
Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome. 53 62 5
10323243 1999
36
Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. 53 62 57
9349812 1997
37
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. 53 62 57
9152830 1997
38
Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. 53 62 57
8968759 1996
39
Somatic overgrowth associated with overexpression of insulin-like growth factor II. 53 62 57
8612230 1996
40
Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. 53 62 57
7987305 1994
41
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. 53 62 57
8252039 1993
42
Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11. 53 62 57
1356785 1992
43
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. 62 57
21863054 2012
44
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. 62 57
21920939 2012
45
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 62 57
19843502 2010
46
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. 62 57
20007505 2010
47
Beckwith-Wiedemann syndrome. 62 57
19550435 2010
48
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. 62 57
19755383 2009
49
The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region. 62 57
19684026 2009
50
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. 62 57
18245780 2008

Variations for Beckwith-Wiedemann Syndrome

ClinVar genetic disease variations for Beckwith-Wiedemann Syndrome:

5 (show top 50) (show all 1069)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ1OT1 KCNQ1OT1, DEL DEL Pathogenic
5825 GRCh37:
GRCh38:
2 CDKN1C NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter) SNV Pathogenic
8746 rs137852766 GRCh37: 11:2906581-2906581
GRCh38: 11:2885351-2885351
3 H19 H19, 1.8-KB DEL DEL Pathogenic
18242 GRCh37:
GRCh38:
4 H19 H19, 5.3-KB DEL DEL Pathogenic
18243 GRCh37:
GRCh38:
5 H19-ICR NG_016165.1:g.(170_?)_(?_2014)del DEL Pathogenic
162492 GRCh37:
GRCh38:
6 MRPL23 and overlap with 2 gene(s) NR_002196.1(H19):n.-7080_-1781del DEL Pathogenic
162493 GRCh37:
GRCh38: 11:1999616-2004919
7 CDKN1C NM_001122630.2(CDKN1C):c.*5+2T>C SNV Pathogenic
143246 rs587777866 GRCh37: 11:2905227-2905227
GRCh38: 11:2883997-2883997
8 CDKN1C NM_001122630.2(CDKN1C):c.416del (p.Pro139fs) DEL Pathogenic
192352 rs786205234 GRCh37: 11:2906271-2906271
GRCh38: 11:2885041-2885041
9 CDKN1C NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs) INSERT Pathogenic
192354 rs786205241 GRCh37: 11:2906090-2906091
GRCh38: 11:2884860-2884861
10 CDKN1C NM_001122630.2(CDKN1C):c.598delinsAA (p.Ala200fs) INDEL Pathogenic
192355 rs786205239 GRCh37: 11:2906089-2906089
GRCh38: 11:2884859-2884859
11 CDKN1C NM_001122630.2(CDKN1C):c.602del (p.Pro201fs) DEL Pathogenic
192356 rs786205237 GRCh37: 11:2906085-2906085
GRCh38: 11:2884855-2884855
12 CDKN1C NM_001122630.2(CDKN1C):c.608_611delinsGGG (p.Pro203fs) INDEL Pathogenic
192357 rs786205240 GRCh37: 11:2906076-2906079
GRCh38: 11:2884846-2884849
13 CDKN1C NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs) DUP Pathogenic
132848 rs786205235 GRCh37: 11:2906386-2906387
GRCh38: 11:2885156-2885157
14 CDKN1C NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs) DUP Pathogenic
132850 rs786205236 GRCh37: 11:2906319-2906320
GRCh38: 11:2885089-2885090
15 DMD NM_004006.3(DMD):c.1637G>A (p.Trp546Ter) SNV Pathogenic
374191 rs1057518962 GRCh37: X:32591929-32591929
GRCh38: X:32573812-32573812
16 NSD1 NC_000005.10:g.(?_177135084)_(177295479_?)del DEL Pathogenic
453987 GRCh37:
GRCh38: 5:177135084-177295479
17 NSD1 NC_000005.10:g.(?_177135094)_(177295469_?)del DEL Pathogenic
652389 GRCh37: 5:176562095-176722470
GRCh38: 5:177135094-177295469
18 CDKN1C NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs) INDEL Pathogenic
967657 rs1848965153 GRCh37: 11:2906387-2906404
GRCh38: 11:2885157-2885174
19 CDKN1C NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs) INDEL Pathogenic
978217 rs1848926281 GRCh37: 11:2906035-2906050
GRCh38: 11:2884805-2884820
20 CDKN1C NM_001122630.2(CDKN1C):c.789_793delinsGAGCTG (p.Asp263fs) INDEL Pathogenic
981177 GRCh37: 11:2905359-2905363
GRCh38: 11:2884129-2884133
21 CDKN1C NM_001122630.2(CDKN1C):c.60_61del (p.Ser21fs) DEL Pathogenic
1379126 GRCh37: 11:2906626-2906627
GRCh38: 11:2885396-2885397
22 CDKN1C NM_001122630.2(CDKN1C):c.193_200dup (p.Gln67fs) DUP Pathogenic
1372013 GRCh37: 11:2906486-2906487
GRCh38: 11:2885256-2885257
23 CDKN1C NM_001122630.2(CDKN1C):c.809_810del (p.Arg270fs) MICROSAT Pathogenic
1391208 GRCh37: 11:2905342-2905343
GRCh38: 11:2884112-2884113
24 CDKN1C NM_001122630.2(CDKN1C):c.204G>A (p.Trp68Ter) SNV Pathogenic
1396638 GRCh37: 11:2906483-2906483
GRCh38: 11:2885253-2885253
25 CDKN1C NM_001122630.2(CDKN1C):c.578del (p.Pro193fs) DEL Pathogenic
1402309 GRCh37: 11:2906109-2906109
GRCh38: 11:2884879-2884879
26 CDKN1C NM_001122630.2(CDKN1C):c.57C>A (p.Cys19Ter) SNV Pathogenic
1411126 GRCh37: 11:2906630-2906630
GRCh38: 11:2885400-2885400
27 CDKN1C NM_001122630.2(CDKN1C):c.244G>T (p.Glu82Ter) SNV Pathogenic
1401271 GRCh37: 11:2906443-2906443
GRCh38: 11:2885213-2885213
28 CDKN1C NM_001122630.2(CDKN1C):c.133G>T (p.Glu45Ter) SNV Pathogenic
1455010 GRCh37: 11:2906554-2906554
GRCh38: 11:2885324-2885324
29 CDKN1C NM_001122630.2(CDKN1C):c.410del (p.Pro137fs) DEL Pathogenic
1417762 GRCh37: 11:2906277-2906277
GRCh38: 11:2885047-2885047
30 CDKN1C NM_001122630.2(CDKN1C):c.132del (p.Glu45fs) DEL Pathogenic
1454500 GRCh37: 11:2906555-2906555
GRCh38: 11:2885325-2885325
31 CDKN1C NM_001122630.2(CDKN1C):c.174dup (p.Pro59fs) DUP Pathogenic
1455648 GRCh37: 11:2906512-2906513
GRCh38: 11:2885282-2885283
32 CDKN1C NM_001122630.2(CDKN1C):c.421_422insA (p.Pro141fs) INSERT Pathogenic
1455977 GRCh37: 11:2906265-2906266
GRCh38: 11:2885035-2885036
33 CDKN1C NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) DEL Pathogenic
453991 rs1554938194 GRCh37: 11:2906524-2906524
GRCh38: 11:2885294-2885294
34 NSD1 NC_000005.10:g.(?_177235801)_(177239885_?)del DEL Pathogenic
583767 GRCh37: 5:176662802-176666886
GRCh38: 5:177235801-177239885
35 NSD1 NC_000005.10:g.(?_177288799)_(177288945_?)del DEL Pathogenic
832417 GRCh37: 5:176715800-176715946
GRCh38:
36 CDKN1C NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs) DEL Pathogenic
848031 rs1848930692 GRCh37: 11:2906078-2906088
GRCh38: 11:2884848-2884858
37 CDKN1C NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter) SNV Pathogenic
850254 rs1564930265 GRCh37: 11:2906332-2906332
GRCh38: 11:2885102-2885102
38 CDKN1C NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs) INSERT Pathogenic
861381 rs1848966851 GRCh37: 11:2906408-2906409
GRCh38: 11:2885178-2885179
39 CDKN1C NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs) INDEL Pathogenic
945302 rs1848931980 GRCh37: 11:2906088-2906089
GRCh38: 11:2884858-2884859
40 CDKN1C NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter) SNV Pathogenic
948503 rs1564930723 GRCh37: 11:2906602-2906602
GRCh38: 11:2885372-2885372
41 CDKN1C NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs) DEL Pathogenic
957972 rs1848978708 GRCh37: 11:2906612-2906613
GRCh38: 11:2885382-2885383
42 CDKN1C NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter) INSERT Pathogenic
966958 rs1848979151 GRCh37: 11:2906619-2906620
GRCh38: 11:2885389-2885390
43 CDKN1C NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs) DEL Pathogenic
967596 rs1848953740 GRCh37: 11:2906267-2906270
GRCh38: 11:2885037-2885040
44 CDKN1C NM_001122630.2(CDKN1C):c.399_415del (p.Ala134fs) DEL Pathogenic
1071226 GRCh37: 11:2906272-2906288
GRCh38: 11:2885042-2885058
45 CDKN1C NM_001122630.2(CDKN1C):c.325G>T (p.Glu109Ter) SNV Pathogenic
1071455 GRCh37: 11:2906362-2906362
GRCh38: 11:2885132-2885132
46 CDKN1C NM_001122630.2(CDKN1C):c.203G>A (p.Trp68Ter) SNV Pathogenic
1072486 GRCh37: 11:2906484-2906484
GRCh38: 11:2885254-2885254
47 CDKN1C NM_001122630.2(CDKN1C):c.95_96insA (p.Ser32fs) INSERT Pathogenic
1074899 GRCh37: 11:2906591-2906592
GRCh38: 11:2885361-2885362
48 CDKN1C NM_001122630.2(CDKN1C):c.354del (p.Glu119fs) DEL Pathogenic
646542 rs1590150660 GRCh37: 11:2906333-2906333
GRCh38: 11:2885103-2885103
49 CDKN1C NM_001122630.2(CDKN1C):c.387_390dup (p.Pro131fs) DUP Pathogenic
1453017 GRCh37: 11:2906296-2906297
GRCh38: 11:2885066-2885067
50 CDKN1C NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs) DEL Pathogenic
524690 rs1554938087 GRCh37: 11:2906329-2906336
GRCh38: 11:2885099-2885106

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:

6 (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 TGM1 Beckwith-Wiedemann syndrome
3 48345 11 1 2800000 Microduplication KCNQ1OT1 Beckwith-Wiedemann syndrome
4 48347 11 1 2800000 Microduplications ICAM4-AS1 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

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 8.92 IGF2 CDKN1C

Sources for Beckwith-Wiedemann Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....