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 54 38 12 23 50 24 25 56 71 29 13 52 42 14 69
Wiedemann-Beckwith Syndrome 23 50 24 25 56
Bws 24 25 56 71
Exomphalos-Macroglossia-Gigantism Syndrome 56 71
Emg Syndrome 50 71
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation 56
Beckwith-Wiedemann Syndrome Due to Nsd1 Mutation 56
Exomphalos Macroglossia Gigantism Syndrome 50
Emg Abnormality 29

Characteristics:

Orphanet epidemiological data:

56
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:

54
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:

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 : 50 beckwith-wiedemann syndrome (bws) is a growth disorder that can affect several parts of the body. affected infants are larger than normal and are taller than their peers during childhood. growth slows down in several years, and affected adults are not unusually tall. some children have asymmetric growth which usually becomes less apparent over time. other signs and symptoms may include an 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 wilms tumor and hepatoblastoma. bws may be caused by several types of genetic changes, but in about 85% of cases only one person in a family is diagnosed with the disorder. last updated: 8/24/2015

MalaCards based summary : Beckwith-Wiedemann Syndrome, also known as wiedemann-beckwith syndrome, is related to beckwith-wiedemann syndrome due to 11p15 microdeletion and beckwith-wiedemann syndrome due to 11p15 translocation/inversion, and has symptoms including macroglossia, wide mouth and umbilical hernia. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and tongue.

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

Genetics Home Reference : 25 Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.

OMIM : 54
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.

Wikipedia : 72 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 120)
id Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome due to 11p15 microdeletion 12.1
2 beckwith-wiedemann syndrome due to 11p15 translocation/inversion 12.1
3 beckwith-wiedemann syndrome due to imprinting defect of 11p15 12.1
4 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 12.1
5 beckwith-wiedemann syndrome due to 11p15 microduplication 12.1
6 macroglossia 11.6
7 perlman syndrome 11.6
8 hepatoblastoma 11.5
9 hemihypertrophy 11.5
10 silver-russell syndrome 11.5
11 adrenal cortical carcinoma 11.3
12 simpson-golabi-behmel syndrome, type 1 11.1
13 hemihyperplasia, isolated 11.1
14 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 11.1
15 high-grade dysplasia in patients with barrett esophagus 10.9 H19 IGF2
16 familial rhabdoid tumor 10.9 H19 IGF2
17 hallermann-streiff syndrome 10.9 H19 IGF2 KCNQ1OT1
18 secondary non-traumatic avascular necrosis 10.9 CDKN1C IGF2
19 aapoaii amyloidosis 10.9 H19 IGF2 KCNQ1OT1
20 encephalopathy, progressive, with or without lipodystrophy 10.8 CDKN1C IGF2 KCNQ1OT1
21 breast abscess 10.7 CDKN1C H19 IGF2 KCNQ1OT1
22 microcephaly, seizures, and developmental delay 10.7 CDKN1C H19 PHLDA2
23 skin tag 10.7 CDKN1C H19 IGF2 SLC22A18
24 laryngomalacia 10.7 CDKN1C NSD1
25 adult brainstem gliosarcoma 10.7 H19 SMPD1
26 hemoglobin zurich 10.7 CDKN1C H19 IGF2 SMPD1
27 cervical wilms' tumor 10.7 CDKN1C IGF2
28 aromatic l-amino acid decarboxylase deficiency 10.6 CDKN1C CTCF H19 IGF2 KCNQ1OT1
29 placental site trophoblastic tumor 10.5 CDKN1C PHLDA2
30 prostate rhabdomyosarcoma 10.5 H19 IGF2 SLC22A18
31 pancreatitis 10.4
32 hyperbiliverdinemia 10.3 CDKN1C CTCF H19 IGF2 KCNQ1OT1 NAP1L4
33 adenoma 10.3
34 rhabdomyosarcoma 10.3
35 proliferative glomerulonephritis 10.3 CTCF IGF2
36 hypoglycemia 10.3
37 hyperinsulinism 10.3
38 gigantism 10.3
39 pancreatoblastoma 10.3
40 omphalocele 10.3
41 neuroblastoma 10.2
42 medullary sponge kidney 10.2
43 leukemia 10.1
44 pheochromocytoma 10.1
45 hepatitis 10.1
46 hyperinsulinemic hypoglycemia 10.1
47 urethritis 10.1
48 aniridia 10.1
49 sleep disorder 10.1
50 prune belly syndrome 10.1

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:

54

Head And Neck- Mouth:
macroglossia

Abdomen- Liver:
hepatomegaly

Cardiovascular- Heart:
cardiomegaly
cardiomyopathy

Head And Neck- Head:
large fontanel
prominent occiput
metopic ridge

Genitourinary- Bladder:
vesicoureteral reflux

Abdomen- External Features:
diastasis recti
omphalocele (exomphalos)

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

Growth- Weight:
average birth weight 4kg

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

Genitourinary- External Genitalia Female:
overgrowth of external genitalia

Genitourinary- Ureters:
ureteral enlargement

Metabolic Features:
neonatal hyperinsulinemic hypoglycemia

Laboratory- Abnormalities:
duplication or deletion at 11p15.5

Genitourinary- Kidneys:
nephrolithiasis
nephrocalcinosis
renal medullary dysplasia
medullary cysts
cortical cysts
more
Head And Neck- Face:
coarse facial features
midface hypoplasia

Head And Neck- Eyes:
prominent eyes

Genitourinary- Internal Genitalia Male:
cryptorchidism

Neoplasia:
wilms tumor
gonadoblastoma
adrenal carcinoma
hepatoblastoma

Skin Nails & Hair- Skin:
nevus flammeus

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

Growth- Other:
generalized overgrowth
hemihypertrophy

Abdomen- Pancreas:
pancreatic hyperplasia

Genitourinary- External Genitalia Male:
overgrowth of external genitalia

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

Endocrine Features:
adrenocortical cytomegaly
pituitary amphophil hyperplasia


Clinical features from OMIM:

130650

Human phenotypes related to Beckwith-Wiedemann Syndrome:

56 32 (show top 50) (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 frequent (33%) Frequent (79-30%) HP:0000158
2 wide mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000154
3 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
4 nephrolithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000787
5 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
6 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
7 coarse facial features 56 32 frequent (33%) Frequent (79-30%) HP:0000280
8 cardiomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001640
9 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
10 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
11 large fontanelles 56 32 Occasional (29-5%) HP:0000239
12 hypertrophic cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001639
13 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
14 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
15 hypoglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0001943
16 omphalocele 56 32 frequent (33%) Frequent (79-30%) HP:0001539
17 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
18 midface retrusion 56 32 frequent (33%) Frequent (79-30%) HP:0011800
19 wide anterior fontanel 56 32 occasional (7.5%) Occasional (29-5%) HP:0000260
20 tall stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0000098
21 obesity 56 32 frequent (33%) Frequent (79-30%) HP:0001513
22 diastasis recti 56 32 occasional (7.5%) Occasional (29-5%) HP:0001540
23 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
24 prominent occiput 56 32 frequent (33%) Frequent (79-30%) HP:0000269
25 feeding difficulties in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0008872
26 neuroblastoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0003006
27 multiple renal cysts 56 32 occasional (7.5%) Occasional (29-5%) HP:0005562
28 redundant skin 56 32 frequent (33%) Frequent (79-30%) HP:0001582
29 nevus flammeus 56 32 frequent (33%) Frequent (79-30%) HP:0001052
30 nephropathy 56 32 frequent (33%) Frequent (79-30%) HP:0000112
31 sleep apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0010535
32 congenital diaphragmatic hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000776
33 gonadoblastoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000150
34 hepatoblastoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002884
35 hemihypertrophy 56 32 frequent (33%) Frequent (79-30%) HP:0001528
36 adrenocortical cytomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0008186
37 exocrine pancreatic insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0001738
38 nephroblastoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002667
39 adrenocortical carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0006744
40 prominent metopic ridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0005487
41 choroideremia 56 32 frequent (33%) Frequent (79-30%) HP:0001139
42 neurological speech impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0002167
43 melanocytic nevus 56 32 frequent (33%) Frequent (79-30%) HP:0000995
44 urogenital fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0100589
45 branchial cyst 56 32 frequent (33%) Frequent (79-30%) HP:0009796
46 accelerated skeletal maturation 56 32 frequent (33%) Frequent (79-30%) HP:0005616
47 posterior helix pit 56 32 frequent (33%) Frequent (79-30%) HP:0008523
48 anterior creases of earlobe 56 32 frequent (33%) Frequent (79-30%) HP:0009908
49 congenital megaureter 56 32 occasional (7.5%) Occasional (29-5%) HP:0008676
50 abnormality of pancreas morphology 56 32 occasional (7.5%) Occasional (29-5%) HP:0012090

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

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

(show all 19)
id 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 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, 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:


id 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:

id Genetic test Affiliating Genes
1 Beckwith-Wiedemann Syndrome 29 24 KCNQ1OT1 CDKN1C H19
2 Emg Abnormality 29

Anatomical Context for Beckwith-Wiedemann Syndrome

MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

39
Kidney, Tongue, Skin, Liver, Bone, Pituitary, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Beckwith-Wiedemann Syndrome:
id 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 556)
id Title Authors Year
1
Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome. ( 28211991 )
2017
2
Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith-Wiedemann syndrome. ( 28074636 )
2017
3
Simultaneous Presentation of Wilms Tumor and Immature Ovarian Teratoma in Beckwith-Wiedemann Syndrome. ( 28692553 )
2017
4
The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. ( 28160403 )
2017
5
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome. ( 28634246 )
2017
6
Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome. ( 28366681 )
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
Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome. ( 27965001 )
2017
10
Recurrent, bilateral, and metastatic pheochromocytoma in a young patient with Beckwith-Wiedemann syndrome: A genetic link? ( 28503241 )
2017
11
Management of adrenal masses in patients with Beckwith-Wiedemann syndrome. ( 28066990 )
2017
12
Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome. ( 28428215 )
2017
13
Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse. ( 28494824 )
2017
14
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population. ( 27977403 )
2017
15
Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. ( 28699632 )
2017
16
Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity. ( 27778389 )
2017
17
Liver transplantation as definitive treatment of an unresectable mesenchymal hamartoma in a child with Beckwith-Wiedemann Syndrome. ( 28928922 )
2017
18
Beckwith-Wiedemann syndrome and recurrent bilateral renal calculi. ( 28216947 )
2017
19
Prenatal diagnosis of paternal duplication of 11p15.5a8914.3: Its implication of Beckwith-Wiedemann syndrome. ( 28040139 )
2016
20
Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome. ( 27549580 )
2016
21
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome. ( 26839037 )
2016
22
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome. ( 27345568 )
2016
23
Urological Findings in Beckwith-Wiedemann Syndrome with Chromosomal Duplications of 11P15.5: Evaluation and Management. ( 27614119 )
2016
24
Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? ( 27518916 )
2016
25
Fetal growth patterns in Beckwith-Wiedemann syndrome. ( 26857110 )
2016
26
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy. ( 26863215 )
2016
27
Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome. ( 26837408 )
2016
28
Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in a fetus with omphalocoele. ( 27807023 )
2016
29
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. ( 27165005 )
2016
30
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques. ( 27480579 )
2016
31
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? ( 27121328 )
2016
32
A case of Beckwith-Wiedemann syndrome with peculiar dental findings. ( 28045321 )
2016
33
Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy? ( 27228957 )
2016
34
Perioperative airway management of a patient with Beckwith-Wiedemann syndrome. ( 28879321 )
2016
35
Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis. ( 27650505 )
2016
36
Anesthetic management of a neonate with Beckwith-Wiedemann syndrome posted for repair of exomphalos. ( 27051387 )
2016
37
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. ( 27372391 )
2016
38
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome. ( 27255538 )
2016
39
Taste and speech following surgical tongue reduction in children with Beckwith-Wiedemann syndrome. ( 27052941 )
2016
40
p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome. ( 27015986 )
2016
41
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. ( 26592461 )
2016
42
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. ( 27587987 )
2016
43
GlideScope for airway management in patients with Beckwith-Wiedemann syndrome: an update. ( 26725991 )
2016
44
TGF-I^/I^2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. ( 26784546 )
2016
45
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. ( 27419809 )
2016
46
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome. ( 27436784 )
2016
47
Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. ( 25641174 )
2015
48
Beckwith-Wiedemann Syndrome Revisited. ( 26270560 )
2015
49
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. ( 26572961 )
2015
50
Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome: A Complex Issue. ( 26241723 )
2015

Variations for Beckwith-Wiedemann Syndrome

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

71
id 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 all 45)
id 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 NSD1 NSD1, 1-BP INS, 4976G insertion Pathogenic
3 NSD1 NSD1, 4-BP DEL, 7968GACA deletion Pathogenic
4 KCNQ1OT1 KCNQ1OT1, DEL deletion Pathogenic
5 CDKN1C NM_000076.2(CDKN1C): c.139C> T (p.Gln47Ter) single nucleotide variant Pathogenic rs137852766 GRCh37 Chromosome 11, 2906581: 2906581
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.740C> A (p.Ser247Ter) single nucleotide variant Pathogenic rs104894200 GRCh37 Chromosome 11, 2905980: 2905980
9 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
10 COL7A1 NM_000094.3(COL7A1): c.706C> T (p.Arg236Ter) single nucleotide variant Pathogenic rs121912854 GRCh37 Chromosome 3, 48630348: 48630348
11 COL7A1 NM_000094.3(COL7A1): c.6205C> T (p.Arg2069Cys) single nucleotide variant Pathogenic rs121912855 GRCh37 Chromosome 3, 48612651: 48612651
12 H19 H19, 1.8-KB DEL deletion Pathogenic
13 H19 H19, 5.3-KB DEL deletion Pathogenic
14 CDKN1C NM_000076.2(CDKN1C): c.845C> G (p.Ser282Ter) single nucleotide variant Pathogenic rs267606716 GRCh37 Chromosome 11, 2905340: 2905340
15 CDKN1C NM_000076.2(CDKN1C): c.845C> A (p.Ser282Ter) single nucleotide variant Pathogenic rs267606716 GRCh37 Chromosome 11, 2905340: 2905340
16 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
17 CDKN1C NM_000076.2(CDKN1C): c.333dupC (p.Ala112Argfs) duplication Pathogenic rs786205235 GRCh37 Chromosome 11, 2906387: 2906387
18 CDKN1C NM_000076.2(CDKN1C): c.400dupG (p.Glu134Glyfs) duplication Pathogenic rs786205236 GRCh38 Chromosome 11, 2885090: 2885090
19 CDKN1C NM_000076.2(CDKN1C): c.*5+2T> C single nucleotide variant Pathogenic rs587777866 GRCh38 Chromosome 11, 2883997: 2883997
20 NSD1 NM_022455.4(NSD1): c.1810C> T (p.Arg604Ter) single nucleotide variant Pathogenic rs587784076 GRCh37 Chromosome 5, 176637210: 176637210
21 NSD1 NM_022455.4(NSD1): c.3659_3660delAG (p.Glu1220Alafs) deletion Pathogenic rs587784104 GRCh37 Chromosome 5, 176639059: 176639060
22 NSD1 NM_022455.4(NSD1): c.4411C> T (p.Arg1471Ter) single nucleotide variant Pathogenic rs570278338 GRCh37 Chromosome 5, 176673711: 176673711
23 NSD1 NM_022455.4(NSD1): c.6349C> T (p.Arg2117Ter) single nucleotide variant Pathogenic rs587784190 GRCh37 Chromosome 5, 176719045: 176719045
24 H19-ICR; ICR1 NG_016165.1: g.(170_?)_(?_2014)del1.8kb deletion Pathogenic
25 H19; H19-ICR; ICR1; MRPL23 NR_002196.1(H19): n.-7080_-1781del deletion Pathogenic GRCh38 Chromosome 11, 1999616: 2004919
26 CDKN1C NM_000076.2(CDKN1C): c.641_644delCGGCinsGGG (p.Pro214Argfs) indel Pathogenic rs786205240 GRCh38 Chromosome 11, 2884846: 2884849
27 CDKN1C NM_000076.2(CDKN1C): c.611_635dup25 (p.Ala213Glyfs) duplication Pathogenic rs786205238 GRCh38 Chromosome 11, 2884855: 2884879
28 CDKN1C NM_000076.2(CDKN1C): c.635delC (p.Pro212Argfs) deletion Pathogenic rs786205237 GRCh38 Chromosome 11, 2884855: 2884855
29 CDKN1C NM_000076.2(CDKN1C): c.631delGinsAA (p.Ala211Asnfs) indel Pathogenic rs786205239 GRCh38 Chromosome 11, 2884859: 2884859
30 CDKN1C NM_000076.2(CDKN1C): c.629_630insGCTCCGGCCCC (p.Ala211Leufs) insertion Pathogenic rs786205241 GRCh38 Chromosome 11, 2884860: 2884861
31 CDKN1C NM_000076.2(CDKN1C): c.449delC (p.Pro150Glnfs) deletion Pathogenic rs786205234 GRCh38 Chromosome 11, 2885041: 2885041
32 CDKN1C NM_000076.2(CDKN1C): c.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs797045445 GRCh38 Chromosome 11, 2884796: 2884796
33 NSD1 NM_022455.4(NSD1): c.2350C> T (p.Gln784Ter) single nucleotide variant Likely pathogenic rs374740802 GRCh38 Chromosome 5, 177210749: 177210749
34 NSD1 NM_022455.4(NSD1): c.3548_3549insGA (p.Glu1184Metfs) insertion Pathogenic rs878855075 GRCh38 Chromosome 5, 177211947: 177211948
35 NSD1 NM_022455.4(NSD1): c.5994delG (p.Met1998Ilefs) deletion Pathogenic rs878855077 GRCh37 Chromosome 5, 176709567: 176709567
36 NSD1 NM_022455.4(NSD1): c.5581C> T (p.Arg1861Ter) single nucleotide variant Pathogenic rs886041218 GRCh37 Chromosome 5, 176700744: 176700744
37 DMD NM_004006.2(DMD): c.1637G> A (p.Trp546Ter) single nucleotide variant Pathogenic rs1057518962 GRCh38 Chromosome X, 32573812: 32573812
38 NSD1 NM_022455.4(NSD1): c.2362C> T (p.Arg788Ter) single nucleotide variant Pathogenic rs1057520339 GRCh37 Chromosome 5, 176637762: 176637762
39 NSD1 NM_022455.4(NSD1): c.2316_2329dupAGCAAATCAAGCTC (p.Leu777Glnfs) duplication Pathogenic GRCh37 Chromosome 5, 176637716: 176637729
40 NSD1 NM_022455.4(NSD1): c.880_881delGA (p.Glu294Ilefs) deletion Pathogenic rs1060501492 GRCh38 Chromosome 5, 177135983: 177135984
41 NSD1 NM_022455.4(NSD1): c.1654delT (p.Ser552Profs) deletion Pathogenic rs1060501497 GRCh38 Chromosome 5, 177210053: 177210053
42 NSD1 NM_022455.4(NSD1): c.2619_2623delTGAGG (p.Glu874Cysfs) deletion Pathogenic rs1060501490 GRCh38 Chromosome 5, 177211018: 177211022
43 NSD1 NM_022455.4(NSD1): c.5276T> C (p.Ile1759Thr) single nucleotide variant Likely pathogenic rs1060501498 GRCh38 Chromosome 5, 177267691: 177267691
44 NSD1 NM_022455.4(NSD1): c.6426C> G (p.Tyr2142Ter) single nucleotide variant Pathogenic rs1060501493 GRCh38 Chromosome 5, 177292121: 177292121
45 NSD1 NM_022455.4(NSD1): c.6487C> T (p.Gln2163Ter) single nucleotide variant Pathogenic rs1060501494 GRCh38 Chromosome 5, 177293855: 177293855

Copy number variations for Beckwith-Wiedemann Syndrome from CNVD:

7 (show all 12)
id 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

GO Terms for Beckwith-Wiedemann Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 regulation of gene expression by genetic imprinting GO:0006349 8.8 CTCF IGF2 KCNQ1
2 embryonic placenta morphogenesis GO:0060669 8.65 CDKN1C

Sources for Beckwith-Wiedemann Syndrome

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