MCID: BCK002
MIFTS: 58

Beckwith-Wiedemann Syndrome

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

Aliases & Classifications for Beckwith-Wiedemann Syndrome

MalaCards integrated aliases for Beckwith-Wiedemann Syndrome:

Name: Beckwith-Wiedemann Syndrome 53 37 12 72 23 49 24 55 71 36 28 13 51 41 14 69
Wiedemann-Beckwith Syndrome 53 23 49 24 55
Bws 53 24 55 71
Exomphalos-Macroglossia-Gigantism Syndrome 53 55 71
Emg Syndrome 53 49 71
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation 55
Beckwith-Wiedemann Syndrome Due to Nsd1 Mutation 55
Exomphalos Macroglossia Gigantism Syndrome 49
Macroglossia Exomphalos Gigantism 72
Wiedemann-Beckwith Syndrome; Wbs 53
Emg Abnormality 28
Wbs 53

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant

Miscellaneous:
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:

23
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:



Summaries for Beckwith-Wiedemann Syndrome

NIH Rare Diseases : 49 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. Last updated: 11/29/2017

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 macroglossia, and has symptoms including obesity, hypothyroidism and neurological speech impairment. 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 Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and tongue.

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

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

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 156)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome due to imprinting defect of 11p15 34.3 H19 IGF2 KCNQ1OT1
2 macroglossia 33.5 CDKN1C NSD1
3 hemihyperplasia, isolated 33.3 CDKN1C H19 IGF2 KCNQ1OT1 SMPD1
4 hepatoblastoma 33.3 CDKN1C H19 IGF2 SLC22A18
5 silver-russell syndrome 33.0 CDKN1C CTCF H19 H19-ICR IGF2 KCNQ1OT1
6 wilms tumor 5 31.7 CDKN1C H19 IGF2
7 rhabdomyosarcoma 31.2 H19 IGF2 SLC22A18
8 congenital mesoblastic nephroma 30.4 CTCF IGF2
9 beckwith-wiedemann syndrome due to 11p15 microdeletion 12.2
10 beckwith-wiedemann syndrome due to 11p15 translocation/inversion 12.2
11 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 12.2
12 beckwith-wiedemann syndrome due to 11p15 microduplication 12.2
13 williams-beuren syndrome 11.9
14 adrenocortical carcinoma, hereditary 11.7
15 perlman syndrome 11.7
16 omphalocele, autosomal 11.2
17 simpson-golabi-behmel syndrome, type 1 11.2
18 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
19 7q11.23 duplication syndrome 11.1
20 williams-beuren region duplication syndrome 10.9
21 silver-russell syndrome due to an imprinting defect of 11p15 10.7 H19 IGF2
22 silver-russell syndrome due to 11p15 microduplication 10.7 H19 IGF2
23 silver-russell syndrome due to a point mutation 10.7 CDKN1C IGF2
24 spastic paraplegia 17, autosomal dominant 10.6 CDKN1C IGF2 KCNQ1OT1
25 umbilical hernia 10.6 CDKN1C H19 IGF2
26 wilms tumor 6 10.6
27 hydatidiform mole, recurrent, 1 10.6 CDKN1C H19 PHLDA2
28 gestational trophoblastic neoplasm 10.6 CDKN1C PHLDA2
29 aggressive systemic mastocytosis 10.5 H19 SMPD1
30 hereditary wilms' tumor 10.5 CDKN1C IGF2
31 pancreatitis 10.4
32 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
33 adenoma 10.4
34 wilms tumor 1 10.3 CTCF H19 IGF2
35 alpha-fetoprotein deficiency 10.3
36 omphalocele 10.3
37 hyperinsulinism 10.3
38 pancreatoblastoma 10.3
39 hypoglycemia 10.3
40 gigantism 10.3
41 neuroblastoma 10.3
42 medullary sponge kidney 10.3
43 fetal macrosomia 10.2 H19 IGF2
44 sotos syndrome 1 10.2
45 cleft palate, isolated 10.2
46 pheochromocytoma 10.2
47 rhabdomyosarcoma 2 10.2
48 hyperinsulinemic hypoglycemia, familial, 3 10.2
49 hyperinsulinemic hypoglycemia, familial, 5 10.2
50 hyperinsulinemic hypoglycemia, familial, 4 10.2

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



Diseases related to Beckwith-Wiedemann Syndrome

Symptoms & Phenotypes for Beckwith-Wiedemann Syndrome

Symptoms via clinical synopsis from OMIM:

53
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 Kidneys:
nephrocalcinosis
nephrolithiasis
renal medullary dysplasia
medullary cysts
cortical cysts
more
Abdomen External Features:
diastasis recti
omphalocele (exomphalos)

Growth Other:
hemihypertrophy
generalized overgrowth

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

Genitourinary External Genitalia Male:
overgrowth of external genitalia

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 Bladder:
vesicoureteral reflux

Skin Nails Hair Skin:
nevus flammeus

Endocrine Features:
adrenocortical cytomegaly
pituitary amphophil hyperplasia

Head And Neck Eyes:
prominent eyes

Growth Weight:
average birth weight 4kg

Abdomen Pancreas:
pancreatic hyperplasia

Genitourinary External Genitalia Female:
overgrowth of external genitalia

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

Metabolic Features:
neonatal hyperinsulinemic hypoglycemia


Clinical features from OMIM:

130650

Human phenotypes related to Beckwith-Wiedemann Syndrome:

55 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
2 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
3 neurological speech impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002167
4 sleep apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0010535
5 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
6 macroglossia 55 31 frequent (33%) Frequent (79-30%) HP:0000158
7 coarse facial features 55 31 frequent (33%) Frequent (79-30%) HP:0000280
8 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
9 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
10 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
11 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
12 feeding difficulties in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008872
13 nephropathy 55 31 frequent (33%) Frequent (79-30%) HP:0000112
14 cardiomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001640
15 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
16 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
17 prominent occiput 55 31 frequent (33%) Frequent (79-30%) HP:0000269
18 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
19 melanocytic nevus 55 31 frequent (33%) Frequent (79-30%) HP:0000995
20 gonadoblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000150
21 neurodevelopmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0012758
22 exocrine pancreatic insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0001738
23 hypercalciuria 55 31 frequent (33%) Frequent (79-30%) HP:0002150
24 wide mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000154
25 arnold-chiari malformation 55 31 very rare (1%) Very rare (<4-1%) HP:0002308
26 multiple renal cysts 55 31 occasional (7.5%) Occasional (29-5%) HP:0005562
27 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
28 polyhydramnios 55 31 frequent (33%) Frequent (79-30%) HP:0001561
29 nephrolithiasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000787
30 urogenital fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0100589
31 adrenocortical carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0006744
32 nevus flammeus 55 31 frequent (33%) Frequent (79-30%) HP:0001052
33 redundant skin 55 31 frequent (33%) Frequent (79-30%) HP:0001582
34 midface retrusion 55 31 frequent (33%) Frequent (79-30%) HP:0011800
35 wide anterior fontanel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000260
36 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
37 large fontanelles 55 31 Occasional (29-5%) HP:0000239
38 branchial cyst 55 31 frequent (33%) Frequent (79-30%) HP:0009796
39 hepatoblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002884
40 tall stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0000098
41 ureteral duplication 55 31 occasional (7.5%) Occasional (29-5%) HP:0000073
42 diastasis recti 55 31 occasional (7.5%) Occasional (29-5%) HP:0001540
43 polycythemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001901
44 nephroblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002667
45 rhabdomyosarcoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002859
46 neuroblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0003006
47 prominent metopic ridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0005487
48 elevated alpha-fetoprotein 55 31 occasional (7.5%) Occasional (29-5%) HP:0006254
49 adrenocortical cytomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0008186
50 congenital megaureter 55 31 occasional (7.5%) Occasional (29-5%) HP:0008676

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
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
2
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
3
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
4
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
5
Etoposide Approved Phase 3 33419-42-0 36462
6
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
7
Doxil Approved June 1999 Phase 3 31703
8 Alkylating Agents Phase 3
9 Anti-Bacterial Agents Phase 3
10 Antibiotics, Antitubercular Phase 3
11 Anti-Infective Agents Phase 3
12 Antimitotic Agents Phase 3
13 Antineoplastic Agents, Phytogenic Phase 3
14 Antirheumatic Agents Phase 3
15 Etoposide phosphate Phase 3
16 Immunosuppressive Agents Phase 3
17 Nucleic Acid Synthesis Inhibitors Phase 3
18 Topoisomerase Inhibitors Phase 3
19 Dihydroxyphenylalanine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate;Carboplatin;Cyclophosphamide;Etoposide Phosphate
2 Genomic Imprinting and Assisted Reproductive Technologies Completed NCT00773825
3 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Recruiting NCT00503893
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes Active, not recruiting NCT01842659
6 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 H19-ICR IGF2 KCNQ1 KCNQ1OT1 NSD1
2 Emg Abnormality 28

Anatomical Context for Beckwith-Wiedemann Syndrome

MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

38
Kidney, Tongue, Liver, Skin, Testes, Placenta, 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 565)
# Title Authors Year
1
Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder. ( 29437884 )
2018
2
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply. ( 29449718 )
2018
3
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. ( 29377879 )
2018
4
Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. ( 29445485 )
2018
5
Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives. ( 29204812 )
2017
6
Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2. ( 29190888 )
2017
7
Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome. ( 28816024 )
2017
8
Spinal adrenal cortical adenoma associated with Beckwith-Wiedemann syndrome: case report and review of the literature. ( 28365908 )
2017
9
Hepatoblastoma in an extremely low birth-weight infant with Beckwith-Wiedemann syndrome. ( 29203194 )
2017
10
Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome. ( 27965001 )
2017
11
The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. ( 28160403 )
2017
12
Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy. ( 29088522 )
2017
13
Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse. ( 28494824 )
2017
14
Simultaneous Presentation of Wilms Tumor and Immature Ovarian Teratoma in Beckwith-Wiedemann Syndrome. ( 28692553 )
2017
15
Recurrent, bilateral, and metastatic pheochromocytoma in a young patient with Beckwith-Wiedemann syndrome: A genetic link? ( 28503241 )
2017
16
Management of adrenal masses in patients with Beckwith-Wiedemann syndrome. ( 28066990 )
2017
17
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population. ( 27977403 )
2017
18
Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome. ( 28428215 )
2017
19
Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome. ( 28366681 )
2017
20
Liver transplantation as definitive treatment of an unresectable mesenchymal hamartoma in a child with Beckwith-Wiedemann Syndrome. ( 28928922 )
2017
21
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome. ( 28634246 )
2017
22
Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity. ( 27778389 )
2017
23
Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome. ( 28211991 )
2017
24
Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith-Wiedemann syndrome. ( 28074636 )
2017
25
Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. ( 28699632 )
2017
26
Beckwith-Wiedemann syndrome and recurrent bilateral renal calculi. ( 28216947 )
2017
27
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome. ( 29270226 )
2017
28
Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? ( 27518916 )
2016
29
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome. ( 27436784 )
2016
30
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? ( 27121328 )
2016
31
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. ( 26592461 )
2016
32
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques. ( 27480579 )
2016
33
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. ( 27165005 )
2016
34
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome. ( 27345568 )
2016
35
Anesthetic management of a neonate with Beckwith-Wiedemann syndrome posted for repair of exomphalos. ( 27051387 )
2016
36
Fetal growth patterns in Beckwith-Wiedemann syndrome. ( 26857110 )
2016
37
Urological Findings in Beckwith-Wiedemann Syndrome with Chromosomal Duplications of 11P15.5: Evaluation and Management. ( 27614119 )
2016
38
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. ( 27587987 )
2016
39
Perioperative airway management of a patient with Beckwith-Wiedemann syndrome. ( 28879321 )
2016
40
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy. ( 26863215 )
2016
41
Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome. ( 27549580 )
2016
42
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome. ( 26839037 )
2016
43
p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome. ( 27015986 )
2016
44
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome. ( 27255538 )
2016
45
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. ( 27372391 )
2016
46
GlideScope for airway management in patients with Beckwith-Wiedemann syndrome: an update. ( 26725991 )
2016
47
Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in a fetus with omphalocoele. ( 27807023 )
2016
48
TGF-I^/I^2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. ( 26784546 )
2016
49
Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome. ( 26837408 )
2016
50
Prenatal diagnosis of paternal duplication of 11p15.5a8914.3: Its implication of Beckwith-Wiedemann syndrome. ( 28040139 )
2016

Variations for Beckwith-Wiedemann Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 CDKN1C p.Leu53Pro VAR_075201 rs483352968
2 CDKN1C p.Pro70Leu VAR_075203 rs483352970

ClinVar genetic disease variations for Beckwith-Wiedemann Syndrome:

6 (show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN1C NM_000076.2(CDKN1C): c.139C> T (p.Gln47Ter) single nucleotide variant Pathogenic rs137852766 GRCh37 Chromosome 11, 2906581: 2906581
2 CDKN1C CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG indel Pathogenic
3 CDKN1C NM_000076.2(CDKN1C): c.310_311delCTinsG (p.Leu104Glyfs) indel Pathogenic rs387906399 GRCh37 Chromosome 11, 2906409: 2906410
4 CDKN1C NM_000076.2(CDKN1C): c.740C> A (p.Ser247Ter) single nucleotide variant Pathogenic rs104894200 GRCh37 Chromosome 11, 2905980: 2905980
5 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
6 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
7 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh37 Chromosome 3, 48612651: 48612651
8 H19 H19, 1.8-KB DEL deletion Pathogenic
9 H19 H19, 5.3-KB DEL deletion Pathogenic
10 CDKN1C NM_000076.2(CDKN1C): c.845C> G (p.Ser282Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606716 GRCh37 Chromosome 11, 2905340: 2905340
11 CDKN1C NM_000076.2(CDKN1C): c.845C> A (p.Ser282Ter) single nucleotide variant Pathogenic rs267606716 GRCh37 Chromosome 11, 2905340: 2905340
12 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
13 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
14 CDKN1C NM_000076.2(CDKN1C): c.333dupC (p.Ala112Argfs) duplication Pathogenic rs786205235 GRCh37 Chromosome 11, 2906387: 2906387
15 CDKN1C NM_000076.2(CDKN1C): c.400dupG (p.Glu134Glyfs) duplication Pathogenic rs786205236 GRCh38 Chromosome 11, 2885090: 2885090
16 CDKN1C NM_000076.2(CDKN1C): c.*5+2T> C single nucleotide variant Pathogenic rs587777866 GRCh38 Chromosome 11, 2883997: 2883997
17 NSD1 NM_022455.4(NSD1): c.1810C> T (p.Arg604Ter) single nucleotide variant Pathogenic rs587784076 GRCh37 Chromosome 5, 176637210: 176637210
18 NSD1 NM_022455.4(NSD1): c.3659_3660delAG (p.Glu1220Alafs) deletion Pathogenic rs587784104 GRCh37 Chromosome 5, 176639059: 176639060
19 NSD1 NM_022455.4(NSD1): c.4411C> T (p.Arg1471Ter) single nucleotide variant Pathogenic rs570278338 GRCh38 Chromosome 5, 177246710: 177246710
20 NSD1 NM_022455.4(NSD1): c.5951G> A (p.Arg1984Gln) single nucleotide variant Pathogenic rs587784169 GRCh37 Chromosome 5, 176709524: 176709524
21 NSD1 NM_022455.4(NSD1): c.6349C> T (p.Arg2117Ter) single nucleotide variant Pathogenic rs587784190 GRCh37 Chromosome 5, 176719045: 176719045
22 H19-ICR; ICR1 NG_016165.1: g.(170_?)_(?_2014)del1.8kb deletion Pathogenic
23 H19; H19-ICR; ICR1; MRPL23 NR_002196.1(H19): n.-7080_-1781del deletion Pathogenic GRCh38 Chromosome 11, 1999616: 2004919
24 CDKN1C NM_000076.2(CDKN1C): c.641_644delCGGCinsGGG (p.Pro214Argfs) indel Pathogenic rs786205240 GRCh38 Chromosome 11, 2884846: 2884849
25 CDKN1C NM_000076.2(CDKN1C): c.611_635dup25 (p.Ala213Glyfs) duplication Pathogenic rs786205238 GRCh38 Chromosome 11, 2884855: 2884879
26 CDKN1C NM_000076.2(CDKN1C): c.635delC (p.Pro212Argfs) deletion Pathogenic rs786205237 GRCh38 Chromosome 11, 2884855: 2884855
27 CDKN1C NM_000076.2(CDKN1C): c.631delGinsAA (p.Ala211Asnfs) indel Pathogenic rs786205239 GRCh38 Chromosome 11, 2884859: 2884859
28 CDKN1C NM_000076.2(CDKN1C): c.629_630insGCTCCGGCCCC (p.Ala211Leufs) insertion Pathogenic rs786205241 GRCh38 Chromosome 11, 2884860: 2884861
29 CDKN1C NM_000076.2(CDKN1C): c.449delC (p.Pro150Glnfs) deletion Pathogenic rs786205234 GRCh38 Chromosome 11, 2885041: 2885041
30 NSD1 NM_022455.4(NSD1): c.5332C> T (p.Arg1778Ter) single nucleotide variant Pathogenic rs794727176 GRCh37 Chromosome 5, 176696631: 176696631
31 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh37 Chromosome 1, 12052716: 12052716
32 KCNQ1OT1 KCNQ1OT1, DEL deletion Pathogenic
33 CDKN1C NM_000076.2(CDKN1C): c.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs797045445 GRCh38 Chromosome 11, 2884796: 2884796
34 NSD1 NM_022455.4(NSD1): c.2350C> T (p.Gln784Ter) single nucleotide variant Likely pathogenic rs374740802 GRCh38 Chromosome 5, 177210749: 177210749
35 NSD1 NM_022455.4(NSD1): c.3548_3549insGA (p.Glu1184Metfs) insertion Pathogenic rs878855075 GRCh38 Chromosome 5, 177211947: 177211948
36 NSD1 NM_022455.4(NSD1): c.5994delG (p.Met1998Ilefs) deletion Pathogenic rs878855077 GRCh37 Chromosome 5, 176709567: 176709567
37 NSD1 NM_022455.4(NSD1): c.5581C> T (p.Arg1861Ter) single nucleotide variant Pathogenic rs886041218 GRCh37 Chromosome 5, 176700744: 176700744
38 DMD NM_004006.2(DMD): c.1637G> A (p.Trp546Ter) single nucleotide variant Pathogenic rs1057518962 GRCh38 Chromosome X, 32573812: 32573812
39 NSD1 NM_022455.4(NSD1): c.2362C> T (p.Arg788Ter) single nucleotide variant Pathogenic rs1057520339 GRCh37 Chromosome 5, 176637762: 176637762
40 NSD1 NM_022455.4(NSD1): c.2316_2329dupAGCAAATCAAGCTC (p.Leu777Glnfs) duplication Pathogenic GRCh38 Chromosome 5, 177210715: 177210728
41 NSD1 NM_022455.4(NSD1): c.880_881delGA (p.Glu294Ilefs) deletion Pathogenic rs1060501492 GRCh38 Chromosome 5, 177135983: 177135984
42 NSD1 NM_022455.4(NSD1): c.1654delT (p.Ser552Profs) deletion Pathogenic rs1060501497 GRCh38 Chromosome 5, 177210053: 177210053
43 NSD1 NM_022455.4(NSD1): c.2619_2623delTGAGG (p.Glu874Cysfs) deletion Pathogenic rs1060501490 GRCh38 Chromosome 5, 177211018: 177211022
44 NSD1 NM_022455.4(NSD1): c.5276T> C (p.Ile1759Thr) single nucleotide variant Likely pathogenic rs1060501498 GRCh38 Chromosome 5, 177267691: 177267691
45 NSD1 NM_022455.4(NSD1): c.6426C> G (p.Tyr2142Ter) single nucleotide variant Pathogenic rs1060501493 GRCh38 Chromosome 5, 177292121: 177292121
46 NSD1 NM_022455.4(NSD1): c.6487C> T (p.Gln2163Ter) single nucleotide variant Pathogenic rs1060501494 GRCh38 Chromosome 5, 177293855: 177293855
47 NSD1 NC_000005.10: g.(?_177280545)_(177283948_?)del deletion Pathogenic GRCh38 Chromosome 5, 177280545: 177283948
48 NSD1 NC_000005.10: g.(?_177135084)_(177295479_?)del deletion Pathogenic GRCh38 Chromosome 5, 177135084: 177295479
49 NSD1 NM_022455.4(NSD1): c.3386_3387delTT (p.Phe1129Terfs) deletion Pathogenic GRCh38 Chromosome 5, 177211785: 177211786
50 NSD1 NM_022455.4(NSD1): c.6089A> C (p.Gln2030Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 176710867: 176710867

Copy number variations for Beckwith-Wiedemann Syndrome from CNVD:

7 (show all 12)
# CNVD ID Chromosom 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 regulation of gene expression by genetic imprinting GO:0006349 8.8 CTCF IGF2 KCNQ1

Sources for Beckwith-Wiedemann Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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