BWS
MCID: BCK002
MIFTS: 56

Beckwith-Wiedemann Syndrome (BWS) malady

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

Aliases & Classifications for Beckwith-Wiedemann Syndrome

Aliases & Descriptions for Beckwith-Wiedemann Syndrome:

Name: Beckwith-Wiedemann Syndrome 54 38 12 23 50 24 25 56 66 13 52 42 14 69
Wiedemann-Beckwith Syndrome 23 50 24 25 56 29
Bws 24 25 56 66
Emg Syndrome 50 66 29
Exomphalos-Macroglossia-Gigantism Syndrome 56 66
Exomphalos Macroglossia Gigantism Syndrome 50

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;

GeneReviews:

23
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:



External Ids:

OMIM 54 130650
Disease Ontology 12 DOID:5572
ICD10 33 Q87.3
MeSH 42 D001506
NCIt 47 C34415
SNOMED-CT 64 81780002
Orphanet 56 ORPHA116
MESH via Orphanet 43 D001506
UMLS via Orphanet 70 C0004903
ICD10 via Orphanet 34 Q87.3
MedGen 40 C0004903
UMLS 69 C0004903

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 cdkn1c mutation and beckwith-wiedemann syndrome due to imprinting defect of 11p15, 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 TRP channels. The drugs Doxorubicin and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include Kidney, tongue and kidney.

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... (130650) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Beckwith–Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth... more...

GeneReviews: NBK1394

Related Diseases for Beckwith-Wiedemann Syndrome

Diseases in the Beckwith-Wiedemann Syndrome family:

Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion
Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 Beckwith-Wiedemann Syndrome Due to Nsd1 Mutation
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 115)
id Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome due to cdkn1c mutation 12.2
2 beckwith-wiedemann syndrome due to imprinting defect of 11p15 12.1
3 beckwith-wiedemann syndrome due to nsd1 mutation 12.1
4 beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 12.1
5 beckwith-wiedemann syndrome due to 11p15 microdeletion 12.1
6 beckwith-wiedemann syndrome due to 11p15 translocation/inversion 12.1
7 macroglossia 11.7
8 perlman syndrome 11.6
9 hepatoblastoma 11.5
10 hemihypertrophy 11.5
11 silver-russell syndrome 11.5
12 adrenal cortical carcinoma 11.3
13 simpson-golabi-behmel syndrome, type 1 11.1
14 hemihyperplasia, isolated 11.1
15 pancreatitis 10.4
16 nebulin-related early-onset distal myopathy 10.3 CDKN1C IGF2
17 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 H19 IGF2
18 hall-riggs mental retardation syndrome 10.3 H19 IGF2 KCNQ1OT1
19 ceroid lipofuscinosis, neuronal, 13, kufs type 10.3 CDKN1C IGF2 KCNQ1OT1
20 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 10.3 H19 IGF2 KCNQ1OT1
21 toxin-mediated infectious botulism 10.3 H19 IGF2
22 dental abscess 10.3 CDKN1C H19 IGF2
23 adenoma 10.3
24 rhabdomyosarcoma 10.3
25 microcephaly, seizures, and developmental delay 10.3 CDKN1C H19 PHLDA2
26 inclusion-cell disease 10.3 H19 IGF2
27 gigantism 10.3
28 hyperinsulinism 10.3
29 pancreatoblastoma 10.3
30 omphalocele 10.3
31 hypoglycemia 10.3
32 malignant ovarian mixed epithelial neoplasm 10.2 CDKN1C H19 IGF2 SLC22A18
33 hemorrhagic fever 10.2 CDKN1C H19 IGF2 SMPD1
34 hemangioma of peripheral nerve 10.2 H19 SMPD1
35 toxic encephalopathy 10.2 CDKN1C PHLDA2
36 exosc3-related pontocerebellar hypoplasia 10.2 PLAGL1 ZFP57
37 medullary sponge kidney 10.2
38 neuroblastoma 10.2
39 deafness, autosomal recessive 66 10.2 KCNQ1OT1 PLAGL1 ZFP57
40 pheochromocytoma 10.1
41 hepatitis 10.1
42 leukemia 10.1
43 laryngomalacia 10.1 CDKN1C NSD1
44 cerebral cavernous malformations-2 10.1 CDKN1C CTCF H19 IGF2 KCNQ1OT1 NAP1L4
45 argininosuccinic aciduria 10.1 CDKN1C CTCF H19 H19-ICR IGF2 KCNQ1OT1
46 sleep disorder 10.1
47 aniridia 10.1
48 adrenal adenoma 10.1
49 neural crest tumor 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 by clinical synopsis from OMIM:

130650

Clinical features from OMIM:

130650

Human phenotypes related to Beckwith-Wiedemann Syndrome:

56 32 (show top 50) (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 56 32 Frequent (79-30%) HP:0001513
2 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
3 neurological speech impairment 56 32 Occasional (29-5%) HP:0002167
4 sleep apnea 56 32 Occasional (29-5%) HP:0010535
5 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
6 macroglossia 56 32 Frequent (79-30%) HP:0000158
7 coarse facial features 56 32 Frequent (79-30%) HP:0000280
8 splenomegaly 56 32 Occasional (29-5%) HP:0001744
9 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
10 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
11 feeding difficulties in infancy 56 32 Occasional (29-5%) HP:0008872
12 nephropathy 56 32 Frequent (79-30%) HP:0000112
13 cardiomegaly 56 32 Frequent (79-30%) HP:0001640
14 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
15 hypoglycemia 56 32 Frequent (79-30%) HP:0001943
16 cleft palate 56 32 Occasional (29-5%) HP:0000175
17 prominent occiput 56 32 Frequent (79-30%) HP:0000269
18 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
19 melanocytic nevus 56 32 Frequent (79-30%) HP:0000995
20 gonadoblastoma 56 32 Occasional (29-5%) HP:0000150
21 exocrine pancreatic insufficiency 56 32 Frequent (79-30%) HP:0001738
22 wide mouth 56 32 Frequent (79-30%) HP:0000154
23 multiple renal cysts 56 32 Occasional (29-5%) HP:0005562
24 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
25 nephrolithiasis 56 32 Occasional (29-5%) HP:0000787
26 urogenital fistula 56 32 Occasional (29-5%) HP:0100589
27 adrenocortical carcinoma 56 32 Occasional (29-5%) HP:0006744
28 nevus flammeus 56 32 Frequent (79-30%) HP:0001052
29 redundant skin 56 32 Frequent (79-30%) HP:0001582
30 midface retrusion 56 32 Frequent (79-30%) HP:0011800
31 proptosis 56 32 Frequent (79-30%) HP:0000520
32 large fontanelles 56 32 Occasional (29-5%) HP:0000239
33 branchial cyst 56 32 Frequent (79-30%) HP:0009796
34 hepatoblastoma 56 32 Occasional (29-5%) HP:0002884
35 tall stature 56 32 Very frequent (99-80%) HP:0000098
36 congenital diaphragmatic hernia 56 32 Frequent (79-30%) HP:0000776
37 choroideremia 56 32 Frequent (79-30%) HP:0001139
38 hemihypertrophy 56 32 Frequent (79-30%) HP:0001528
39 omphalocele 56 32 Frequent (79-30%) HP:0001539
40 accelerated skeletal maturation 56 32 Frequent (79-30%) HP:0005616
41 posterior helix pit 56 32 Frequent (79-30%) HP:0008523
42 anterior creases of earlobe 56 32 Frequent (79-30%) HP:0009908
43 wide anterior fontanel 56 32 Occasional (29-5%) HP:0000260
44 diastasis recti 56 32 Occasional (29-5%) HP:0001540
45 nephroblastoma 56 32 Occasional (29-5%) HP:0002667
46 neuroblastoma 56 32 Occasional (29-5%) HP:0003006
47 prominent metopic ridge 56 32 Occasional (29-5%) HP:0005487
48 adrenocortical cytomegaly 56 32 Occasional (29-5%) HP:0008186
49 congenital megaureter 56 32 Occasional (29-5%) HP:0008676
50 abnormality of pancreas morphology 56 32 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 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
2
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
3
Etoposide Approved Phase 3 33419-42-0 36462
4
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
5
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
6
Dactinomycin Approved Phase 3 50-76-0 2019 457193
7
Doxil Approved June 1999 Phase 3 31703
8 Alkylating Agents Phase 3
9 Topoisomerase Inhibitors Phase 3
10 Nucleic Acid Synthesis Inhibitors Phase 3
11 Anti-Bacterial Agents Phase 3
12 Etoposide phosphate Phase 3
13 Anti-Infective Agents Phase 3
14 Immunosuppressive Agents Phase 3
15 Antibiotics, Antitubercular Phase 3
16 Antimitotic Agents Phase 3
17 Antirheumatic Agents Phase 3
18 Antineoplastic Agents, Alkylating Phase 3
19 Antineoplastic Agents, Phytogenic Phase 3
20 Dihydroxyphenylalanine

Interventional clinical trials:


id Name Status NCT ID Phase
1 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Active, not recruiting NCT00945009 Phase 3
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

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
Tongue, Kidney, Skin, Liver, Heart, Pancreas, Placenta
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 550)
id Title Authors Year
1
Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome. ( 28366681 )
2017
2
Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse. ( 28494824 )
2017
3
Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith-Wiedemann syndrome. ( 28074636 )
2017
4
The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. ( 28160403 )
2017
5
Recurrent, bilateral, and metastatic pheochromocytoma in a young patient with Beckwith-Wiedemann syndrome: A genetic link? ( 28503241 )
2017
6
Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome. ( 27965001 )
2017
7
Management of adrenal masses in patients with Beckwith-Wiedemann syndrome. ( 28066990 )
2017
8
Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome. ( 28211991 )
2017
9
Spinal adrenal cortical adenoma associated with Beckwith-Wiedemann syndrome: case report and review of the literature. ( 28365908 )
2017
10
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population. ( 27977403 )
2017
11
Beckwith-Wiedemann syndrome and recurrent bilateral renal calculi. ( 28216947 )
2017
12
Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity. ( 27778389 )
2017
13
Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome. ( 28428215 )
2017
14
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? ( 27121328 )
2016
15
Taste and speech following surgical tongue reduction in children with Beckwith-Wiedemann syndrome. ( 27052941 )
2016
16
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy. ( 26863215 )
2016
17
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. ( 27165005 )
2016
18
A case of Beckwith-Wiedemann syndrome with peculiar dental findings. ( 28045321 )
2016
19
Fetal growth patterns in Beckwith-Wiedemann syndrome. ( 26857110 )
2016
20
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
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
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. ( 26592461 )
2016
23
Urological Findings in Beckwith-Wiedemann Syndrome with Chromosomal Duplications of 11P15.5: Evaluation and Management. ( 27614119 )
2016
24
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome. ( 27436784 )
2016
25
TGF-I^/I^2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. ( 26784546 )
2016
26
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques. ( 27480579 )
2016
27
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. ( 27587987 )
2016
28
p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome. ( 27015986 )
2016
29
Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy? ( 27228957 )
2016
30
Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? ( 27518916 )
2016
31
Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome. ( 26837408 )
2016
32
Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in a fetus with omphalocoele. ( 27807023 )
2016
33
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome. ( 27345568 )
2016
34
GlideScope for airway management in patients with Beckwith-Wiedemann syndrome: an update. ( 26725991 )
2016
35
Prenatal diagnosis of paternal duplication of 11p15.5a8914.3: Its implication of Beckwith-Wiedemann syndrome. ( 28040139 )
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
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. ( 27419809 )
2016
39
Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome. ( 27549580 )
2016
40
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome. ( 27255538 )
2016
41
Mesenchymal Hamartoma of the Liver in an Infant With Beckwith-Wiedemann Syndrome: A Rare Condition Mimicking Hepatoblastoma. ( 26203458 )
2015
42
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. ( 26077438 )
2015
43
Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. ( 26061650 )
2015
44
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. ( 25898929 )
2015
45
Cystic fibrosis and beckwith-wiedemann syndrome: a case report. ( 25584105 )
2015
46
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. ( 26545876 )
2015
47
11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency. ( 26012727 )
2015
48
Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor. ( 26937341 )
2015
49
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine. ( 26138266 )
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:

66
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 rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
17 CDKN1C NM_000076.2(CDKN1C): c.333dupC (p.Ala112Argfs) duplication Pathogenic rs786205235 GRCh38 Chromosome 11, 2885157: 2885157
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 GRCh38 Chromosome 5, 177212058: 177212059
22 NSD1 NM_022455.4(NSD1): c.4411C> T (p.Arg1471Ter) single nucleotide variant Pathogenic rs570278338 GRCh38 Chromosome 5, 177246710: 177246710
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 GRCh37 Chromosome 11, 2906026: 2906026
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

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

id Super pathways Score Top Affiliating Genes
1 10.02 TRPM5 TRPV4

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 8.92 CTCF IGF2 KCNQ1 ZFP57

Sources for Beckwith-Wiedemann Syndrome

3 CDC
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11 DGIdb
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65 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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