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MCID: BCK002
MIFTS: 57

Beckwith-Wiedemann Syndrome

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Beckwith-Wiedemann Syndrome

About this section

MalaCards integrated aliases for Beckwith-Wiedemann Syndrome:

Name: Beckwith-Wiedemann Syndrome 57 38 12 76 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Wiedemann-Beckwith Syndrome 57 24 53 25 59
Bws 57 25 59 75
Exomphalos-Macroglossia-Gigantism Syndrome 57 59 75
Emg Syndrome 57 53 75
Emg Abnormality 29 6
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation 59
Beckwith-Wiedemann Syndrome Due to Nsd1 Mutation 59
Exomphalos Macroglossia Gigantism Syndrome 53
Macroglossia Exomphalos Gigantism 76
Wiedemann-Beckwith Syndrome; Wbs 57
Wbs 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare renal diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Beckwith-Wiedemann Syndrome

About this section
NIH Rare Diseases : 53 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 macroglossia. 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, and related phenotypes are obesity and hypothyroidism

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)

UniProtKB/Swiss-Prot : 75 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 : 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.

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

Wikipedia : 76 Beckwith–Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth disorder usually... more...

GeneReviews: NBK1394
Sources

Related Diseases for Beckwith-Wiedemann Syndrome

About this section

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 151)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome due to imprinting defect of 11p15 34.9 H19 IGF2 KCNQ1OT1
2 macroglossia 33.9 CDKN1C NSD1
3 adrenocortical carcinoma, hereditary 33.9 CDKN1C H19 IGF2
4 hepatoblastoma 33.8 CDKN1C H19 IGF2
5 hemihyperplasia, isolated 33.7 CDKN1C H19 IGF2 KCNQ1OT1 SMPD1
6 silver-russell syndrome 33.4 CDKN1C CTCF H19 H19-ICR IGF2 KCNQ1OT1
7 wilms tumor 5 32.3 CDKN1C H19 IGF2 SLC22A18
8 congenital mesoblastic nephroma 30.8 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 perlman syndrome 11.7
15 omphalocele, autosomal 11.2
16 simpson-golabi-behmel syndrome, type 1 11.2
17 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
18 silver-russell syndrome due to an imprinting defect of 11p15 11.1 H19 IGF2
19 silver-russell syndrome due to 11p15 microduplication 11.1 H19 IGF2
20 silver-russell syndrome due to a point mutation 11.1 CDKN1C IGF2
21 7q11.23 duplication syndrome 11.0
22 spastic paraplegia 17, autosomal dominant 11.0 CDKN1C IGF2 KCNQ1OT1
23 umbilical hernia 11.0 CDKN1C H19 IGF2
24 gestational trophoblastic neoplasm 11.0 CDKN1C H19 PHLDA2
25 hydatidiform mole, recurrent, 1 10.9 CDKN1C H19 PHLDA2
26 williams-beuren region duplication syndrome 10.9
27 aggressive systemic mastocytosis 10.8 H19 SMPD1
28 wilms tumor 6 10.6
29 prostate disease 10.6 H19 IGF2-AS
30 cardiac conduction defect 10.4 KCNQ1 RYR1
31 pancreatitis 10.4
32 wilms tumor 1 10.4 CTCF H19 IGF2 IGF2-AS
33 hereditary wilms' tumor 10.4 CDKN1C IGF2
34 rhabdomyosarcoma 10.4
35 adenoma 10.4
36 omphalocele 10.3
37 hyperinsulinism 10.3
38 pancreatoblastoma 10.3
39 hypoglycemia 10.3
40 gigantism 10.3
41 brody myopathy 10.3 DMD RYR1
42 neuroblastoma 10.3
43 medullary sponge kidney 10.3
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
Sources

Symptoms & Phenotypes for Beckwith-Wiedemann Syndrome

About this section

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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:

59 32 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
2 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
3 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
4 sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0010535
5 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
6 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
7 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
8 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
9 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
10 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
11 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
12 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
13 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
14 cardiomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001640
15 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
16 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
17 prominent occiput 59 32 frequent (33%) Frequent (79-30%) HP:0000269
18 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
19 melanocytic nevus 59 32 frequent (33%) Frequent (79-30%) HP:0000995
20 gonadoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000150
21 neurodevelopmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0012758
22 exocrine pancreatic insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0001738
23 hypercalciuria 59 32 frequent (33%) Frequent (79-30%) HP:0002150
24 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
25 arnold-chiari malformation 59 32 very rare (1%) Very rare (<4-1%) HP:0002308
26 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
27 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
28 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
29 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000787
30 urogenital fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100589
31 adrenocortical carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006744
32 nevus flammeus 59 32 frequent (33%) Frequent (79-30%) HP:0001052
33 redundant skin 59 32 frequent (33%) Frequent (79-30%) HP:0001582
34 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
35 wide anterior fontanel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000260
36 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
37 large fontanelles 59 32 Occasional (29-5%) HP:0000239
38 branchial cyst 59 32 frequent (33%) Frequent (79-30%) HP:0009796
39 hepatoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002884
40 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
41 ureteral duplication 59 32 occasional (7.5%) Occasional (29-5%) HP:0000073
42 diastasis recti 59 32 occasional (7.5%) Occasional (29-5%) HP:0001540
43 polycythemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001901
44 nephroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002667
45 rhabdomyosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002859
46 neuroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003006
47 prominent metopic ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005487
48 elevated alpha-fetoprotein 59 32 occasional (7.5%) Occasional (29-5%) HP:0006254
49 adrenocortical cytomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0008186
50 congenital megaureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0008676
Sources

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

About this section

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
2
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
3
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
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, Alkylating Phase 3
14 Antineoplastic Agents, Phytogenic Phase 3
15 Antirheumatic Agents Phase 3
16 Etoposide phosphate Phase 3
17 Immunosuppressive Agents Phase 3
18 Nucleic Acid Synthesis Inhibitors Phase 3
19 Topoisomerase Inhibitors Phase 3
20 Dihydroxyphenylalanine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Completed NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
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 Not Applicable
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

Sources

Genetic Tests for Beckwith-Wiedemann Syndrome

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Genetic tests related to Beckwith-Wiedemann Syndrome:

# Genetic test Affiliating Genes
1 Beckwith-Wiedemann Syndrome 29 CDKN1C H19 H19-ICR IGF2 KCNQ1 KCNQ1OT1 NSD1
2 Emg Abnormality 29
Sources

Anatomical Context for Beckwith-Wiedemann Syndrome

About this section

MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

41
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
Sources

Publications for Beckwith-Wiedemann Syndrome

About this section

Articles related to Beckwith-Wiedemann Syndrome:

(show top 50) (show all 576)
# Title Authors Year
1
Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe. ( 29753922 )
2018
2
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply. ( 29449718 )
2018
3
Virginal breast hypertrophy in a patient with Beckwith-Wiedemann syndrome. ( 29531723 )
2018
4
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. ( 29377879 )
2018
5
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome. ( 29936652 )
2018
6
Beckwith-Wiedemann Syndrome: Partnership in the Diagnostic Journey of a Rare Disorder. ( 29437884 )
2018
7
Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor. ( 29932284 )
2018
8
Beckwith-Wiedemann Syndrome: Open bite evolution after tongue reduction. ( 29476667 )
2018
9
18F-FDG PET/CT for Molecular Imaging of Hepatoblastoma in Beckwith-Wiedemann Syndrome. ( 29485435 )
2018
10
Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. ( 29445485 )
2018
11
Surgical Outcomes of Patients with Beckwith-Wiedemann Syndrome. ( 29551244 )
2018
12
Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome. ( 28366681 )
2017
13
Liver transplantation as definitive treatment of an unresectable mesenchymal hamartoma in a child with Beckwith-Wiedemann Syndrome. ( 28928922 )
2017
14
Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. ( 28699632 )
2017
15
Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome. ( 27965001 )
2017
16
Hepatoblastoma in an extremely low birth-weight infant with Beckwith-Wiedemann syndrome. ( 29203194 )
2017
17
Spinal adrenal cortical adenoma associated with Beckwith-Wiedemann syndrome: case report and review of the literature. ( 28365908 )
2017
18
Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy. ( 29088522 )
2017
19
Recurrent, bilateral, and metastatic pheochromocytoma in a young patient with Beckwith-Wiedemann syndrome: A genetic link? ( 28503241 )
2017
20
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
21
Management of adrenal masses in patients with Beckwith-Wiedemann syndrome. ( 28066990 )
2017
22
Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith-Wiedemann syndrome. ( 28074636 )
2017
23
Simultaneous Presentation of Wilms Tumor and Immature Ovarian Teratoma in Beckwith-Wiedemann Syndrome. ( 28692553 )
2017
24
Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse. ( 28494824 )
2017
25
Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity. ( 27778389 )
2017
26
The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. ( 28160403 )
2017
27
Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives. ( 29204812 )
2017
28
Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome. ( 28211991 )
2017
29
Beckwith-Wiedemann syndrome and recurrent bilateral renal calculi. ( 28216947 )
2017
30
Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome. ( 28428215 )
2017
31
Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome. ( 28816024 )
2017
32
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome. ( 29270226 )
2017
33
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population. ( 27977403 )
2017
34
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome. ( 28634246 )
2017
35
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy. ( 26863215 )
2016
36
A case of Beckwith-Wiedemann syndrome with peculiar dental findings. ( 28045321 )
2016
37
Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy? ( 27228957 )
2016
38
GlideScope for airway management in patients with Beckwith-Wiedemann syndrome: an update. ( 26725991 )
2016
39
Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? ( 27518916 )
2016
40
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques. ( 27480579 )
2016
41
Fetal growth patterns in Beckwith-Wiedemann syndrome. ( 26857110 )
2016
42
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome. ( 27255538 )
2016
43
p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome. ( 27015986 )
2016
44
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. ( 27165005 )
2016
45
Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome. ( 27549580 )
2016
46
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. ( 27372391 )
2016
47
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome. ( 27345568 )
2016
48
Prenatal diagnosis of paternal duplication of 11p15.5a8914.3: Its implication of Beckwith-Wiedemann syndrome. ( 28040139 )
2016
49
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. ( 27587987 )
2016
50
Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in a fetus with omphalocoele. ( 27807023 )
2016
Sources

Variations for Beckwith-Wiedemann Syndrome

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

75
# 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 654)
# Gene Variation Type Significance SNP ID Assembly Location
1 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh37 Chromosome 1, 12052716: 12052716
2 MFN2 NM_014874.3(MFN2): c.280C> T (p.Arg94Trp) single nucleotide variant Pathogenic rs119103263 GRCh38 Chromosome 1, 11992659: 11992659
3 KCNQ1OT1 KCNQ1OT1, DEL deletion Pathogenic
4 CDKN1C NM_000076.2(CDKN1C): c.139C> T (p.Gln47Ter) single nucleotide variant Pathogenic rs137852766 GRCh37 Chromosome 11, 2906581: 2906581
5 CDKN1C NM_000076.2(CDKN1C): c.139C> T (p.Gln47Ter) single nucleotide variant Pathogenic rs137852766 GRCh38 Chromosome 11, 2885351: 2885351
6 CDKN1C CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG indel Pathogenic
7 CDKN1C NM_000076.2(CDKN1C): c.310_311delCTinsG (p.Leu104Glyfs) indel Pathogenic rs387906399 GRCh37 Chromosome 11, 2906409: 2906410
8 CDKN1C NM_000076.2(CDKN1C): c.310_311delCTinsG (p.Leu104Glyfs) indel Pathogenic rs387906399 GRCh38 Chromosome 11, 2885179: 2885180
9 CDKN1C NM_000076.2(CDKN1C): c.740C> A (p.Ser247Ter) single nucleotide variant Pathogenic rs104894200 GRCh37 Chromosome 11, 2905980: 2905980
10 CDKN1C NM_000076.2(CDKN1C): c.740C> A (p.Ser247Ter) single nucleotide variant Pathogenic rs104894200 GRCh38 Chromosome 11, 2884750: 2884750
11 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
12 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh38 Chromosome 19, 38499961: 38499961
13 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
14 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh38 Chromosome 3, 48592915: 48592915
15 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh37 Chromosome 3, 48612651: 48612651
16 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh38 Chromosome 3, 48575218: 48575218
17 H19 H19, 1.8-KB DEL deletion Pathogenic
18 H19 H19, 5.3-KB DEL deletion Pathogenic
19 CDKN1C NM_000076.2(CDKN1C): c.845C> G (p.Ser282Ter) single nucleotide variant Likely pathogenic rs267606716 GRCh37 Chromosome 11, 2905340: 2905340
20 CDKN1C NM_000076.2(CDKN1C): c.845C> G (p.Ser282Ter) single nucleotide variant Likely pathogenic rs267606716 GRCh38 Chromosome 11, 2884110: 2884110
21 CDKN1C NM_000076.2(CDKN1C): c.845C> A (p.Ser282Ter) single nucleotide variant Pathogenic rs267606716 GRCh37 Chromosome 11, 2905340: 2905340
22 CDKN1C NM_000076.2(CDKN1C): c.845C> A (p.Ser282Ter) single nucleotide variant Pathogenic rs267606716 GRCh38 Chromosome 11, 2884110: 2884110
23 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
24 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
25 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
26 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh38 Chromosome 11, 2768917: 2768917
27 CDKN1C NM_000076.2(CDKN1C): c.333dupC (p.Ala112Argfs) duplication Pathogenic rs786205235 GRCh37 Chromosome 11, 2906387: 2906387
28 CDKN1C NM_000076.2(CDKN1C): c.333dupC (p.Ala112Argfs) duplication Pathogenic rs786205235 GRCh38 Chromosome 11, 2885157: 2885157
29 CDKN1C NM_000076.2(CDKN1C): c.400dupG (p.Glu134Glyfs) duplication Pathogenic rs786205236 GRCh38 Chromosome 11, 2885090: 2885090
30 CDKN1C NM_000076.2(CDKN1C): c.400dupG (p.Glu134Glyfs) duplication Pathogenic rs786205236 GRCh37 Chromosome 11, 2906320: 2906320
31 CDKN1C NM_000076.2(CDKN1C): c.*5+2T> C single nucleotide variant Pathogenic rs587777866 GRCh38 Chromosome 11, 2883997: 2883997
32 CDKN1C NM_000076.2(CDKN1C): c.*5+2T> C single nucleotide variant Pathogenic rs587777866 GRCh37 Chromosome 11, 2905227: 2905227
33 H19 NR_131224.1(H19): n.-297A> C single nucleotide variant not provided rs587777745 GRCh37 Chromosome 11, 2022993: 2022993
34 H19 NR_131224.1(H19): n.-297A> C single nucleotide variant not provided rs587777745 GRCh38 Chromosome 11, 2001763: 2001763
35 CDKN1C NM_000076.2(CDKN1C): c.631G> A (p.Ala211Thr) single nucleotide variant Uncertain significance rs1060500178 GRCh37 Chromosome 11, 2906089: 2906089
36 CDKN1C NM_000076.2(CDKN1C): c.631G> A (p.Ala211Thr) single nucleotide variant Uncertain significance rs1060500178 GRCh38 Chromosome 11, 2884859: 2884859
37 NSD1 NM_022455.4(NSD1): c.339C> T (p.Cys113=) single nucleotide variant Benign/Likely benign rs77093936 GRCh37 Chromosome 5, 176562443: 176562443
38 NSD1 NM_022455.4(NSD1): c.339C> T (p.Cys113=) single nucleotide variant Benign/Likely benign rs77093936 GRCh38 Chromosome 5, 177135442: 177135442
39 NSD1 NM_022455.4(NSD1): c.760C> T (p.Leu254Phe) single nucleotide variant Benign/Likely benign rs149334244 GRCh37 Chromosome 5, 176562864: 176562864
40 NSD1 NM_022455.4(NSD1): c.760C> T (p.Leu254Phe) single nucleotide variant Benign/Likely benign rs149334244 GRCh38 Chromosome 5, 177135863: 177135863
41 NSD1 NM_022455.4(NSD1): c.1149C> T (p.Ile383=) single nucleotide variant Conflicting interpretations of pathogenicity rs34921128 GRCh37 Chromosome 5, 176631206: 176631206
42 NSD1 NM_022455.4(NSD1): c.1149C> T (p.Ile383=) single nucleotide variant Conflicting interpretations of pathogenicity rs34921128 GRCh38 Chromosome 5, 177204205: 177204205
43 NSD1 NM_022455.4(NSD1): c.1495G> A (p.Ala499Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs587784075 GRCh37 Chromosome 5, 176636895: 176636895
44 NSD1 NM_022455.4(NSD1): c.1495G> A (p.Ala499Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs587784075 GRCh38 Chromosome 5, 177209894: 177209894
45 NSD1 NM_022455.4(NSD1): c.1558G> A (p.Ala520Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs559617787 GRCh37 Chromosome 5, 176636958: 176636958
46 NSD1 NM_022455.4(NSD1): c.1558G> A (p.Ala520Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs559617787 GRCh38 Chromosome 5, 177209957: 177209957
47 NSD1 NM_022455.4(NSD1): c.1690G> T (p.Ala564Ser) single nucleotide variant Benign/Likely benign rs116520623 GRCh37 Chromosome 5, 176637090: 176637090
48 NSD1 NM_022455.4(NSD1): c.1690G> T (p.Ala564Ser) single nucleotide variant Benign/Likely benign rs116520623 GRCh38 Chromosome 5, 177210089: 177210089
49 NSD1 NM_022455.4(NSD1): c.1810C> T (p.Arg604Ter) single nucleotide variant Pathogenic rs587784076 GRCh37 Chromosome 5, 176637210: 176637210
50 NSD1 NM_022455.4(NSD1): c.1810C> T (p.Arg604Ter) single nucleotide variant Pathogenic rs587784076 GRCh38 Chromosome 5, 177210209: 177210209

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
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Expression for Beckwith-Wiedemann Syndrome

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

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Pathways related to Beckwith-Wiedemann Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Cell cycle hsa04110
Sources

GO Terms for Beckwith-Wiedemann Syndrome

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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
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Sources for Beckwith-Wiedemann Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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