MCID: BCK002
MIFTS: 56

Beckwith-Wiedemann Syndrome malady

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

Aliases & Classifications for Beckwith-Wiedemann Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 34LifeMap Discovery®, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Beckwith-Wiedemann Syndrome:

Name: Beckwith-Wiedemann Syndrome 51 34 11 23 47 24 25 53 69 12 49 38 13 67
Wiedemann-Beckwith Syndrome 23 47 24 25 53 26
Bws 24 25 53 69
 
Emg Syndrome 47 69 26
Exomphalos-Macroglossia-Gigantism Syndrome 53 69
Exomphalos Macroglossia Gigantism Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
beckwith-wiedemann syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: adolescent,late childhood

HPO:

63
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:

OMIM51 130650
Disease Ontology11 DOID:5572
ICD1029 Q87.3
MeSH38 D001506
NCIt44 C34415
SNOMED-CT61 81780002
Orphanet53 ORPHA116
MESH via Orphanet39 D001506
UMLS via Orphanet68 C0004903
ICD10 via Orphanet30 Q87.3
MedGen36 C0004903

Summaries for Beckwith-Wiedemann Syndrome

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NIH Rare Diseases:47 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 11p15 microdeletion, and has symptoms including tall stature, cryptorchidism and nephropathy. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). Affiliated tissues include tongue, kidney and skin.

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

UniProtKB/Swiss-Prot:69 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.

OMIM:51 Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The... (130650) more...

Wikipedia:70 Beckwith–Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth... more...

GeneReviews for NBK1394

Related Diseases for Beckwith-Wiedemann Syndrome

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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 110)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome due to cdkn1c mutation34.4H19, IGF2
2beckwith-wiedemann syndrome due to 11p15 microdeletion34.2H19, IGF2
3beckwith-wiedemann syndrome due to 11p15 translocation/inversion12.1
4beckwith-wiedemann syndrome due to imprinting defect of 11p1512.1
5beckwith-wiedemann syndrome due to nsd1 mutation12.1
6beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 1112.1
7beckwith-wiedemann syndrome due to 11p15 microduplication12.1
8macroglossia11.7
9perlman syndrome11.6
10silver-russell syndrome11.5
11adrenal cortical carcinoma11.3
12simpson-golabi-behmel syndrome, type 111.2
13hemihyperplasia, isolated11.2
14influenza, severe10.7CDKN1C, H19
15hallermann-streiff syndrome10.6H19, IGF2, KCNQ1OT1
16ehlers-danlos syndrome, vascular-like type10.6H19, IGF2, KCNQ1OT1
17hepatoblastoma10.5
18microcephaly, seizures, and developmental delay10.5CDKN1C, H19, PHLDA2
19aortitis10.5CDKN1C, IGF2
20laryngomalacia10.5CDKN1C, NSD1
21movement disease10.5H19, SMPD1
22spinal cord primitive neuroectodermal neoplasm10.5CDKN1C, IGF2, SLC22A18
23limb-mammary syndrome10.4IGF2, PHLDA2
24duarte variant galactosemia10.4PLAGL1, ZFP57
25exudative glomerulonephritis10.4CTCF, IGF2
26hemihypertrophy10.4
27fetal methyl mercury syndrome10.4H19, IGF2
28pancreatitis10.4
29nephronophthisis 1910.4KCNQ1OT1, PLAGL1, ZFP57
30rhabdomyosarcoma10.3
31omphalocele10.3
32hyperinsulinism10.3
33adenoma10.3
34pancreatoblastoma10.3
35hypoglycemia10.3
36gigantism10.3
37neuroblastoma10.2
38medullary sponge kidney10.2
39charcot-marie-tooth disease type 710.2H19, IGF2
40hepatitis10.1
41leukemia10.1
42pheochromocytoma10.1
43prune belly syndrome10.1
44renal cell carcinoma10.1
45aniridia10.1
46urethritis10.1
47pseudohypoparathyroidism10.1
48sleep disorder10.1
49adrenal adenoma10.1
50neural crest tumor10.1

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



Diseases related to beckwith-wiedemann syndrome

Symptoms for Beckwith-Wiedemann Syndrome

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Symptoms by clinical synopsis from OMIM:

130650

Clinical features from OMIM:

130650

Human phenotypes related to Beckwith-Wiedemann Syndrome:

 63 53 (show all 74)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature63 53 hallmark (90%) Very frequent (99-80%) HP:0000098
2 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
3 nephropathy63 53 typical (50%) Frequent (79-30%) HP:0000112
4 wide mouth63 53 typical (50%) Frequent (79-30%) HP:0000154
5 abnormality of the tongue63 typical (50%) HP:0000157
6 malar flattening63 typical (50%) HP:0000272
7 abnormality of periauricular region63 typical (50%) HP:0000383
8 congenital diaphragmatic hernia63 53 typical (50%) Frequent (79-30%) HP:0000776
9 cutis laxa63 typical (50%) HP:0000973
10 melanocytic nevus63 53 typical (50%) Frequent (79-30%) HP:0000995
11 umbilical hernia63 53 typical (50%) Frequent (79-30%) HP:0001537
12 omphalocele63 53 typical (50%) Frequent (79-30%) HP:0001539
13 cardiomegaly63 53 typical (50%) Frequent (79-30%) HP:0001640
14 exocrine pancreatic insufficiency63 53 typical (50%) Frequent (79-30%) HP:0001738
15 hypoglycemia63 53 typical (50%) Frequent (79-30%) HP:0001943
16 anterior creases of earlobe63 53 typical (50%) Frequent (79-30%) HP:0009908
17 abnormality of the helix63 typical (50%) HP:0011039
18 asymmetric growth63 53 typical (50%) Frequent (79-30%) HP:0100555
19 polycystic kidney dysplasia63 occasional (7.5%) HP:0000113
20 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
21 hypothyroidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000821
22 abnormality of the adrenal glands63 occasional (7.5%) HP:0000834
23 hypertrophic cardiomyopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0001639
24 splenomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001744
25 apnea63 occasional (7.5%) HP:0002104
26 neurological speech impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0002167
27 hepatomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002240
28 neoplasm of the liver63 occasional (7.5%) HP:0002896
29 neuroblastoma63 53 occasional (7.5%) Occasional (29-5%) HP:0003006
30 sarcoma63 occasional (7.5%) HP:0100242
31 urogenital fistula63 53 occasional (7.5%) Occasional (29-5%) HP:0100589
32 dandy-walker malformation63 rare (5%) HP:0001305
33 enlarged kidneys63 HP:0000105
34 gonadoblastoma63 53 Occasional (29-5%) HP:0000150
35 macroglossia63 53 Frequent (79-30%) HP:0000158
36 large fontanelles63 53 Occasional (29-5%) HP:0000239
37 prominent occiput63 53 Frequent (79-30%) HP:0000269
38 coarse facial features63 53 Frequent (79-30%) HP:0000280
39 proptosis63 53 Frequent (79-30%) HP:0000520
40 abnormality of the ear63 HP:0000598
41 hemihypertrophy63 53 Frequent (79-30%) HP:0001528
42 diastasis recti63 53 Occasional (29-5%) HP:0001540
43 overgrowth63 HP:0001548
44 cardiomyopathy63 HP:0001638
45 neonatal hypoglycemia63 HP:0001998
46 nephroblastoma63 HP:0002667
47 hepatoblastoma63 53 Occasional (29-5%) HP:0002884
48 overgrowth of external genitalia63 HP:0003247
49 accelerated skeletal maturation63 53 Frequent (79-30%) HP:0005616
50 pancreatic hyperplasia63 HP:0006277
51 adrenocortical carcinoma63 53 Occasional (29-5%) HP:0006744
52 adrenocortical cytomegaly63 53 Occasional (29-5%) HP:0008186
53 neoplasm53 Very frequent (99-80%)
54 abnormality of earlobe53 Frequent (79-30%)
55 nevus flammeus53 Frequent (79-30%)
56 choroideremia53 Frequent (79-30%)
57 obesity53 Frequent (79-30%)
58 redundant skin53 Frequent (79-30%)
59 posterior helix pit53 Frequent (79-30%)
60 branchial cyst53 Frequent (79-30%)
61 midface retrusion53 Frequent (79-30%)
62 inguinal hernia53 Occasional (29-5%)
63 vesicoureteral reflux53 Occasional (29-5%)
64 wide anterior fontanel53 Occasional (29-5%)
65 nephrolithiasis53 Occasional (29-5%)
66 malformation of the heart and great vessels53 Occasional (29-5%)
67 nephroblastoma (wilms tumor)53 Occasional (29-5%)
68 prominent metopic ridge53 Occasional (29-5%)
69 multiple renal cysts53 Occasional (29-5%)
70 congenital megaureter53 Occasional (29-5%)
71 feeding difficulties in infancy53 Occasional (29-5%)
72 sleep apnea53 Occasional (29-5%)
73 abnormality of pancreas morphology53 Occasional (29-5%)
74 leiomyosarcoma53 Occasional (29-5%)

UMLS symptoms related to Beckwith-Wiedemann Syndrome:


hepatomegaly

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DactinomycinapprovedPhase 34850-76-02019, 457193
Synonyms:
(- )-actinomycin d
(-)-actinomycin d
-pentone
01815_FLUKA
1H-Pyrrolo(2,1-1)-(1,4,7,10,13)oxatetraazacyclohexadecine
2-amino-N,N'-bis(hexadecahydro-2,5,9-trimethyl-6,13-bis(1-methylethyl)-1,4,7,11,14-pentaoxo-1H-pyrrolo(2,1-I)(1,4,7,10,13)oxatetra-azacyclohexadecin-10-yl)-4,6-dimethyl-3-oxo-3H-phenoxazine-1,9-dicarboxamide
4,6-dimethyl-3-oxo-3H-phenoxazine-1,9-dicarboxamide
50-76-0
A1410_SIGMA
A4262_SIGMA
A9415_SIGMA
AC1L1CQX
AC1L9W52
ACT
ACT D
ACTINOMYCIN D
ACTINOMYCIN D AMP
ACTINOMYCIN-D
ACTO-D
ACon0_000471
ACon1_001004
AD
AD (VAN)
AI3-26374
ActD
Actactinomycin A IV
Actactinomycin a Iv
Actinomycin 11 Cosmegen
Actinomycin 11 cosmegen
Actinomycin 7
Actinomycin A IV
Actinomycin Aiv
Actinomycin C (sub1)
Actinomycin C(sub1)
Actinomycin C1
Actinomycin D
Actinomycin D (JP15)
Actinomycin D deriv. of 3H-phenoxaocardazine
Actinomycin D, sodium deoxyribonucleic acid complex
Actinomycin I
Actinomycin I (sub1)
Actinomycin I(sub 1)
Actinomycin I(sub1)
Actinomycin I1
Actinomycin IV
Actinomycin Iv
Actinomycin X 1
Actinomycin X1
Actinomycin iv
Actinomycin-(threo-val-pro-sar-meval)
Actinomycin-?IV
Actinomycin-[threo-val-pro-sar-meval]
Actinomycindioic D Acid, Dilactone
Actinomycindioic D acid, dilactone
Acto-D
Antibiotic From Streptomyces Parvullus
Antibiotic from Streptomyces parvullus
BCBcMAP01_000155
BRD-A42383464-001-02-2
Bio1_000342
Bio1_000831
Bio1_001320
C06770
C1
C62H86N12O16
CBiol_002056
CCRIS 9
CHEBI:123721
CHEBI:27666
CHEMBL1554
CHEMBL427947
CID2019
 
CID457193
COSMEGEN (TN)
CPD000469227
Chounghwamycin B
Cosmegen
D Actinomycin
D00214
DACTINOMYCIN
DB00970
DVA-DPR-SAR-MVA-(c1)DTH-PXZ-(c11)DTH-DVA-DPR-SAR-MVA
Dactinomicina
Dactinomicina [INN-Spanish]
Dactinomycin
Dactinomycin (USP)
Dactinomycin D
Dactinomycin [USAN:BAN]
Dactinomycine
Dactinomycine [INN-French]
Dactinomycinum
Dactinomycinum [INN-Latin]
Dilactone Actinomycin D Acid
Dilactone Actinomycindioic D Acid
Dilactone actin omycindioic D acid
Dilactone actinomycin D acid
Dilactone actinomycindioic D acid
EINECS 200-063-6
FT-0080366
GNF-PF-1977
HBF 386
HBF 386 Meractinomycin
HBF 386 meractinomycin
HMS2052O17
HSDB 3220
LMPK14000005
LS-142
Lyovac Cosmegen
Lyovac cosmegen
MEGxm0_000350
MLS001424196
Meractinomycin
MolPort-001-739-741
MolPort-003-925-177
NCGC00025059-02
NCGC00090796-01
NCGC00161622-01
NCGC00161622-02
NCGC00169767-01
NCI-C04682
NCI60_030539
NP-005932
NSC 3053
NSC-3053
NSC191297
NSC3053
Neuro_000003
Oncostatin K
Oxamide
PXZ-THR-DVA-PRO-SAR-MVA-THR-DVA-PRO-SAR-MVA
SAM001246846
SMP1_000005
SMR000469227
UNII-1CC1JFE158
UPCMLD-DP055
UPCMLD-DP055:001
UPCMLD-DP055:002
WLN: 16- AN FVN IVN LVO PVM SVTJ G1 J1 KY1&1 N1 RY1&1
X 97
actd
actinomycin D
actinomycin cl
actinomycin x i
actinomyein-theo-val-pro-sar-meval
dactinomyein d
o)-(1-oxo-1,2-ethanediyl)]bis(N-methyl)L-valine
2
Doxorubicinapproved, investigationalPhase 3171423214-92-831703
Synonyms:
(1S,3S)-3-Glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(8S-cis)-10-((3-amino-2,3,6-Trideoxy-alpha-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione
111266-55-8
14-Hydroxydaunomycin
14-Hydroxydaunorubicine
14-hydroxydaunomycin
14-hydroxydaunorubicine
23214-92-8
23257-17-2
24385-08-8
25311-50-6
25316-40-9
25316-40-9 (hydrochloride)
29042-30-6
AC1L1M5T
AC1Q29OJ
ADM
ADR
Adriablastin
Adriacin (hydrochloride salt)
Adriamycin
Adriamycin PFS
Adriamycin PFS (hydrochloride salt)
Adriamycin RDF
Adriamycin RDF (hydrochloride salt)
Adriamycin Semiquinone
Adriamycin semiquinone
Adriblas tina
Adriblastin
Adriblastina
Adriblastina (TN)
Adriblastina (hydrochloride salt)
Aerosolized Doxorubicin
BPBio1_000502
BRD-K92093830-003-04-3
BSPBio_000456
BSPBio_001031
C01661
C27H29NO11
CCRIS 739
CHEBI:28748
CHEMBL179
CID31703
Caelyx
Conjugate of doxorubicin with humanized monoclonal antibody LL1 against CD74
Conjugate of doxorubicin with monoclonal antibody P4/D10 against GP120
D03899
DB00997
DM2
DOX-SL
Doxil
Doxo
Doxorubicin
Doxorubicin (USAN/INN)
Doxorubicin HCl
 
Doxorubicin Hydrochloride
Doxorubicin [USAN:INN:BAN]
Doxorubicin citrate
Doxorubicin hydrochloride (hydrochloride salt)
Doxorubicin-P4/D10
Doxorubicin-P4/D10 conjugate
Doxorubicin-hLL1
Doxorubicin-hLL1 conjugate
Doxorubicina
Doxorubicina [INN-Spanish]
Doxorubicine
Doxorubicine [INN-French]
Doxorubicinum
Doxorubicinum [INN-Latin]
EINECS 245-495-6
FI 106
Farmablastina (hydrochloride salt)
HMS2089H06
HSDB 3070
Hydroxydaunomycin hydrochlor ide (hydrochloride salt)
Hydroxydaunomycin hydrochloride (hydrochloride salt)
Hydroxydaunorubicin
Hydroxydaunorubicin hydrochloride (hydrochloride salt)
JT9100000
LMPK13050001
LS-1029
LS-165655
MLS000759533
Myocet
NCI-C01514
NChemBio.2007.10-comp13
NDC 38242-874
NIOSH/JT9100000
NSC 123127
Prestwick0_000438
Prestwick1_000438
Prestwick2_000438
Prestwick3_000438
Probes1_000151
Probes2_000129
RDF Rubex
Resmycin
Rubex
Rubex (hydrochloride salt)
SMP1_000106
SPBio_002395
TLC D-99
ThermoDox
Triferric doxorubicin
UNII-80168379AG
adiblastine (hydrochloride salt)
adr iablatina (hydrochloride salt)
adriablastine (hydrochloride salt)
adriablatina (hydrochloride salt)
adriblatina (hydrochloride salt)
doxorubicin
nchembio809-comp5
3
EtoposideapprovedPhase 3123233419-42-036462
Synonyms:
(-)-Etoposide
121471-01-0
136598-18-0
201594-04-9
33419-42-0
35317-32-9
4'-Demethyl-epipodophyllotoxin 9-[4,6-O-(R)-ethylidene-beta-D-glucopyranoside
4'-Demethylepipodophyllotoxin 9-(4,6-O-(R)-ethylidene-beta-D-glucopyranoside)
4'-Demethylepipodophyllotoxin 9-(4,6-O-ethylidene-beta-D-glucopyranoside)
4'-Demethylepipodophyllotoxin ethylidene-.beta.-D-glucoside
4'-O-Demethyl-1-O-(4,6-O-ethylidene-beta-D-glucopyranosyl)epipodophyllotoxin
4-Demethylepipodophyllotoxin beta-D-ethylideneglucoside
4-Demethylepipodophyllotoxin-.beta.-D-ethylideneglucoside
51854-34-3
76576-58-4
9-((4,6-O-Ethylidine-beta-D-glucopyranosyl)oxy)-5,8,8a,9-tetrahydro-5-(4-hydroxy-3,4-dimethyloxyphenyl)furo(3',4'':6,7)naptho-(2,3-D)-1,3-dioxol-6(5ah)-one
AB00438905
AC1L1FN8
AC1L1VT3
AC1L6246
AC1NR4OG
AC1O4WGG
AC1O7M1N
AC1Q47JJ
Ambap33419-42-0
BPBio1_000673
BRD-K37798499-001-02-5
BSPBio_000611
Bio1_000489
Bio1_000978
Bio1_001467
C01576
CCRIS 2392
CHEBI:4911
CHEBI:588795
CHEMBL44657
CID11758093
CID284997
CID3310
CID36462
CID5284558
CID6419930
CID6610299
CPD000112002
D00125
DB00773
DEMETHY-EPIPODOPHYLLOTOXIN,ETHYLIDENE GLUCOSIDE,
Demethyl Epipodophyllotoxin Ethylidine Glucoside
Demethyl-epiodophyllotoxin ethylidene glucoside
Demethylepipodophyllotoxin-beta-D-ethylideneglucoside
E0675
E1383_SIGMA
EINECS 251-509-1
EPE
EPEG
ETOP
Epipodophyllotoxin
Epipodophyllotoxin VP-16213
Epipodophyllotoxin, 4'-demethyl-, 4,6-O-ethylidene-.beta.-D-glucopyranoside
Epipodophyllotoxin, 4'-demethyl-, 4,6-O-ethylidene-beta-D-glucopyranoside
Epipodophyllotoxin, 4'-demethyl-, 4,6-O-ethylidene-beta-D-glucopyranoside (8CI)
Epipodophyllotoxin, 4'-demethyl-, 9-(4,6-O-ethylidene-.beta.-D-glucopyranoside)
Epipodophyllotoxin, 4'-demethyl-, 9-(4,6-O-ethylidene-beta-D-glucopyranoside)
Eposide
Eposin
 
Eposin, Vepesid, VP-16, Toposar, Etoposide
Etopol
Etopophos
Etopophos (phosphate salt)
Etoposid
Etoposide
Etoposide (JP15/USP/INN)
Etoposide (VP16)
Etoposide [USAN:INN:BAN:JAN]
Etoposido
Etoposido [INN-Spanish]
Etoposidum
Etoposidum [INN-Latin]
Etosid
HMS1569O13
HMS2052N05
HMS2089F14
HSDB 6517
I06-0248
KBioSS_002410
LS-1214
Lastet
MLS000049957
MLS001074951
MLS001424283
MLS002153463
MLS002207239
MLS002222184
MolPort-003-983-431
MolPort-004-905-001
MolPort-004-955-161
NCGC00025056-02
NChemBio.2007.10-comp19
NK 171
NSC 141540
NSC-141540
NSC141540
Prestwick0_000396
Prestwick1_000396
Prestwick2_000396
Prestwick3_000396
Prestwick_211
S1225_Selleck
SAM001246880
SMR000112002
SPBio_002532
ST056353
Toposar
UNII-6PLQ3CP4P3
VP 16
VP 16 (pharmaceutical)
VP 16-213
VP 16213
VP-16
VP-16-213
VePESID (TN)
VePesid
Vepesid
Vepesid J
Vepeside
ZINC03830818
ZINC03938684
Zuyeyidal
etoposide
nchembio.573-comp8
nchembio873-comp2
trans-Etoposide
4
Vincristineapproved, investigationalPhase 39042068-78-2, 57-22-75978
Synonyms:
22-Oxovincaleukoblastin
22-Oxovincaleukoblastine
28379-27-3
57-22-7
AC1L1LJC
C07204
C46H56N4O10
CCRIS 5763
CHEBI:28445
CID5978
D08679
DB00541
EINECS 200-318-1
HMS2090E19
HSDB 3199
Indole alkaloid
LCR
LS-228
Leurocristine
Lilly 37231 (1:1 sulfate salt)
Liposomal Vincristine
Marqibo
NCGC00163700-01
NCI-C04864
NCI60_026703
NSC-67574
Onco TCS
 
Oncovin
Oncovin (1:1 sulfate salt)
Oncovine
Tecnocris
Tecnocris (TN)
UNII-5J49Q6B70F
VCR
VIN
Vincaleukoblastine, 22-oxo- 22-Oxovincaleukoblastine
Vincasar
Vincasar (1:1 sulfate salt)
Vincasar PFS
Vincrex
Vincrex (1:1 sulfate salt)
Vincristin
Vincristina
Vincristina [DCIT]
Vincristine (INN)
Vincristine Sulfate
Vincristine Sulfate PFS
Vincristine [INN:BAN]
Vincristinum
Vincristinum [INN-Latin]
Vincrstine
Vincrystine
Vinkristin
Z-D-Val-Lys(Z)-OH
vincristine
5
CarboplatinapprovedPhase 3198041575-94-410339178, 498142, 38904
Synonyms:
(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum
/h1-3H2,(H,7,8)(H,9,10)
/q
1,1-Cyclobutanedicarboxylate diammine platinum (II)
1,1-Cyclobutanedicarboxylate diammine platinum(II)
2*-1
2*1H2
41575-94-4
70903-55-8
AC-1457
AC1L8I6U
Ambap41575-94-4
BSPBio_003145
C 2538
C2043
C2538_SIGMA
C6H10N2O4Pt
CBDCA
CCRIS 3404
CHEBI:31355
CHEMBL1351
CHEMBL288376
CID10339178
CID2567
CID38904
CID426756
CID498142
CID5352133
CID6398587
CID6603770
Carbopaltin
Carboplatin
Carboplatin (JAN/USP/INN)
Carboplatin (USAN)
Carboplatin [USAN:INN:BAN:JAN]
Carboplatine
Carboplatine [French]
Carboplatino
Carboplatino [Spanish]
Carboplatinum
Carboplatinum [Latin]
Cbdca
Cyclobutane-1,1-dicarboxylate
D01363
DB00958
Diammine(1,1-cyclobutanedicarboxylato)platinum (II)
Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum
Diammine-1,1-cyclobutane dicarboxylate platinum II
DivK1c_000892
EINECS 255-446-0
EU-0100230
Ercar
HMS1921J16
HMS2090M05
HMS2092B22
HMS502M14
HSDB 6957
I14-2390
IDI1_000892
IUPAC: Azane
InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6
 
JM 8
JM-8
KBio1_000892
KBio2_002009
KBio2_004577
KBio2_007145
KBio3_002645
KBioGR_000713
KBioSS_002009
LS-117689
Lopac-C-2538
Lopac0_000230
MolPort-003-665-501
MolPort-003-845-609
NCGC00015223-01
NCGC00093695-01
NCGC00094961-01
NCGC00094961-02
NCGC00094961-03
NCGC00162099-01
NCGC00162099-02
NCGC00167800-01
NCGC00178242-01
NINDS_000892
NSC 201345
NSC 241240
NSC-241240
NSC201345
NSC241240
Paraplatin
Paraplatin (TN)
Paraplatin, Carboplatin
Paraplatin-AQ
Platinum(+2) Cation
Platinum(II), (1, 1-cyclobutanedicar
Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)
Platinum, {diammine[1,1-cyclobut
S1215_Selleck
SPBio_000716
SPECTRUM1502106
Spectrum2_000898
Spectrum3_001503
Spectrum4_000337
Spectrum5_001094
Spectrum_001529
UNII-BG3F62OND5
azanide
carboplatin
cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(ii)
cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)
cis-Diammine(1,1-cyclobutanedicarboxylato) platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diammine(cyclobutanedicarboxylato)platinum II
cyclobutane-1,1-dicarboxylic acid
diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum
nchembio.573-comp10
nchembio773-comp2
nchembio873-comp3
platinum(2+)
6
Cyclophosphamideapproved, investigationalPhase 3282950-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
7
DoxilApproved June 1999Phase 3171431703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
8Etoposide phosphatePhase 31232
9Immunosuppressive AgentsPhase 312770
10Nucleic Acid Synthesis InhibitorsPhase 34855
11Anti-Bacterial AgentsPhase 310884
12Topoisomerase InhibitorsPhase 34945
13Antibiotics, AntitubercularPhase 36972
14Anti-Infective AgentsPhase 321402
15Antirheumatic AgentsPhase 310627
16Antineoplastic Agents, AlkylatingPhase 34474
17Alkylating AgentsPhase 34694
18Antineoplastic Agents, PhytogenicPhase 35420
19Antimitotic AgentsPhase 35498
20Dihydroxyphenylalanine140

Interventional clinical trials:

idNameStatusNCT IDPhase
1Combination Chemotherapy and Surgery in Treating Young Patients With Wilms TumorActive, not recruitingNCT00945009Phase 3
2Genomic Imprinting and Assisted Reproductive TechnologiesCompletedNCT00773825
3Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary AnomaliesRecruitingNCT00503893
4Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
5Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell SyndromesActive, not recruitingNCT01842659
618F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic HypoglycemiaAvailableNCT01916148

Search NIH Clinical Center for Beckwith-Wiedemann Syndrome


Cochrane evidence based reviews: beckwith-wiedemann syndrome

Genetic Tests for Beckwith-Wiedemann Syndrome

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Genetic tests related to Beckwith-Wiedemann Syndrome:

id Genetic test Affiliating Genes
1 Beckwith-Wiedemann Syndrome26 24 CDKN1C, H19, KCNQ1OT1, NSD1
2 Emg Abnormality26

Anatomical Context for Beckwith-Wiedemann Syndrome

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MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

35
Tongue, Kidney, Skin, Liver, Adrenal gland, Heart, Pancreas

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 TissueAnatomical CompartmentCell Relevance
1 KidneyInterstitial StromaInterstitial Stroma Cells Affected by disease

Animal Models for Beckwith-Wiedemann Syndrome or affiliated genes

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Publications for Beckwith-Wiedemann Syndrome

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Articles related to Beckwith-Wiedemann Syndrome:

(show top 50)    (show all 542)
idTitleAuthorsYear
1
Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome. (26837408)
2016
2
Anesthetic management of a neonate with Beckwith-Wiedemann syndrome posted for repair of exomphalos. (27051387)
2016
3
Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. (26061650)
2015
4
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission. (24996904)
2014
5
Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia. (25243012)
2014
6
Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology. (24325814)
2013
7
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. (23892181)
2013
8
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. (23197429)
2013
9
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour. (23188046)
2013
10
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. (23917791)
2013
11
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (22795092)
2012
12
Beckwith-Wiedemann syndrome, delayed abdominal wall closure, and neonatal intussusception--case report and literature review. (22483344)
2012
13
Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome. (22577095)
2012
14
Systemic and maxillofacial characteristics of patients with Beckwith-Wiedemann syndrome not treated with glossectomy. (21457863)
2011
15
Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. (20459838)
2010
16
Beckwith-Wiedemann syndrome. (19550435)
2010
17
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). (19300480)
2009
18
Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. (18000906)
2007
19
The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. (16825435)
2006
20
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). (17044870)
2006
21
Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome. (16708166)
2006
22
Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. (16053907)
2005
23
The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster. (15640248)
2005
24
Bilateral benign haemorrhagic adrenal cysts in Beckwith-Wiedemann syndrome: case report. (15080519)
2004
25
Incomplete Beckwith-Wiedemann syndrome in a child with orbital rhabdomyosarcoma. (11910143)
2002
26
Case 5. Beckwith-Wiedemann syndrome. (12008830)
2002
27
Bilateral asynchronous adrenal adenoma in a girl with an incomplete form of Beckwith-Wiedemann syndrome. (11271390)
2001
28
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. (11826361)
2001
29
Joint laxity, scoliosis, and thoracic cage abnormalities in children with Beckwith-Wiedemann syndrome. (11271391)
2001
30
Pseudo-partial moles: placental stem vessel hydrops and the association with Beckwith-Wiedemann syndrome and complete moles. (11737301)
2001
31
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. (11751681)
2001
32
A Meckel's diverticulum containing pancreatic tissue and nesidioblastosis in a patient with Beckwith-Wiedemann syndrome. (10663860)
2000
33
Sudden death in an 8-week-old infant with Beckwith-Wiedemann syndrome. (10990293)
2000
34
Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. (10220444)
1999
35
Prenatal diagnosis of Beckwith-Wiedemann syndrome. (9016239)
1997
36
Beckwith-Wiedemann syndrome. (9282500)
1997
37
Enlarging giant liver cyst in Beckwith-Wiedemann syndrome. (9211962)
1997
38
An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. (8841187)
1996
39
Seven megabase yeast artificial chromosome contig at region 11p15: identification of a yeast artificial chromosome spanning the breakpoint of a chromosomal translocation found in a case of Beckwith-Wiedemann syndrome. (7796419)
1995
40
Beckwith-Wiedemann syndrome. An update and review for the primary pediatrician. (7656512)
1995
41
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. (7820926)
1994
42
Beckwith-Wiedemann Syndrome (20301568)
1993
43
Anesthetic considerations of an infant with Beckwith-Wiedemann syndrome. (1457118)
1992
44
Cystic adrenal masses in the neonate associated with hemihypertrophy and the relation to the Beckwith-Wiedemann syndrome. (1861304)
1991
45
A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly and prune belly syndrome. (2289313)
1990
46
Beckwith-wiedemann syndrome and neural crest tumors. A report of two cases. (2748231)
1989
47
An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13----pter.: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome. (3613243)
1986
48
Chronic alveolar hypoventilation secondary to macroglossia in the Beckwith-Wiedemann syndrome. (7133819)
1982
49
Two cases of Beckwith-Wiedemann syndrome, one with hemihypertrophy. (6932218)
1980
50
Radiology of the Beckwith-Wiedemann syndrome. (5044404)
1972

Variations for Beckwith-Wiedemann Syndrome

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

69
id Symbol AA change Variation ID SNP ID
1CDKN1Cp.Leu53ProVAR_075201rs483352968
2CDKN1Cp.Pro70LeuVAR_075203rs483352970

Clinvar genetic disease variations for Beckwith-Wiedemann Syndrome:

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1CDKN1CNM_000076.2(CDKN1C): c.333dupC (p.Ala112Argfs)duplicationPathogenicrs786205235GRCh37Chr 11, 2906387: 2906387
2CDKN1CNM_000076.2(CDKN1C): c.400dupG (p.Glu134Glyfs)duplicationPathogenicrs786205236GRCh38Chr 11, 2885090: 2885090
3CDKN1CNM_000076.2(CDKN1C): c.*5+2T> CSNVPathogenicrs587777866GRCh38Chr 11, 2883997: 2883997
4NSD1NM_022455.4(NSD1): c.4411C> T (p.Arg1471Ter)SNVPathogenicrs570278338GRCh37Chr 5, 176673711: 176673711
5H19-ICR;ICR1NG_016165.1: g.(170_?)_(?_2014)del1.8kbdeletionPathogenicChr na, -1: -1
6H19;H19-ICR;ICR1;MRPL23NR_002196.1(H19): n.-7080_-1781deldeletionPathogenicGRCh38Chr 11, 1999616: 2004919
7H19H19, 1.8-KB DELdeletionPathogenicChr na, -1: -1
8H19H19, 5.3-KB DELdeletionPathogenicChr na, -1: -1
9CDKN1CNM_000076.2(CDKN1C): c.845C> G (p.Ser282Ter)SNVPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
10CDKN1CNM_000076.2(CDKN1C): c.845C> A (p.Ser282Ter)SNVPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
11CDKN1CNM_000076.2(CDKN1C): c.449delC (p.Pro150Glnfs)deletionPathogenicrs786205234GRCh38Chr 11, 2885041: 2885041
12CDKN1CNM_000076.2(CDKN1C): c.611_635dup25 (p.Ala213Glyfs)duplicationPathogenicrs786205238GRCh38Chr 11, 2884855: 2884879
13CDKN1CNM_000076.2(CDKN1C): c.629_630insGCTCCGGCCCC (p.Ala211Leufs)insertionPathogenicrs786205241GRCh38Chr 11, 2884860: 2884861
14CDKN1CNM_000076.2(CDKN1C): c.631delGinsAA (p.Ala211Asnfs)indelPathogenicrs786205239GRCh38Chr 11, 2884859: 2884859
15CDKN1CNM_000076.2(CDKN1C): c.635delC (p.Pro212Argfs)deletionPathogenicrs786205237GRCh38Chr 11, 2884855: 2884855
16CDKN1CNM_000076.2(CDKN1C): c.641_644delCGGCinsGGG (p.Pro214Argfs)indelPathogenicrs786205240GRCh38Chr 11, 2884846: 2884849
17CDKN1CNM_000076.2(CDKN1C): c.644_649dupCCCCGG (p.Pro216_Asp217insAlaPro)duplicationPathogenicrs772704243GRCh38Chr 11, 2884841: 2884846
18CDKN1CNM_000076.2(CDKN1C): c.694C> T (p.Gln232Ter)SNVPathogenicrs797045445GRCh38Chr 11, 2884796: 2884796
19NSD1NM_022455.4(NSD1): c.2350C> T (p.Gln784Ter)SNVLikely pathogenicrs374740802GRCh38Chr 5, 177210749: 177210749
20NSD1NM_022455.4(NSD1): c.3548_3549insGA (p.Glu1184Metfs)insertionPathogenicrs878855075GRCh38Chr 5, 177211947: 177211948
21NSD1NM_022455.4(NSD1): c.5994delG (p.Met1998Ilefs)deletionPathogenicrs878855077GRCh37Chr 5, 176709567: 176709567
22NSD1NSD1, 1-BP INS, 4976GinsertionPathogenicChr na, -1: -1
23NSD1NSD1, 4-BP DEL, 7968GACAdeletionPathogenicChr na, -1: -1
24KCNQ1OT1KCNQ1OT1, DELdeletionPathogenicChr na, -1: -1
25CDKN1CNM_000076.2(CDKN1C): c.139C> T (p.Gln47Ter)SNVPathogenicrs137852766GRCh37Chr 11, 2906581: 2906581
26CDKN1CCDKN1C, 1-BP DEL/2-BP INS, 1086T-AGindelPathogenicChr na, -1: -1
27CDKN1CNM_000076.2(CDKN1C): c.310_311delCTinsG (p.Leu104Glyfs)indelPathogenicrs387906399GRCh37Chr 11, 2906409: 2906410
28CDKN1CNM_000076.2(CDKN1C): c.740C> A (p.Ser247Ter)SNVPathogenicrs104894200GRCh37Chr 11, 2905980: 2905980

Copy number variations for Beckwith-Wiedemann Syndrome from CNVD:

6 (show all 12)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1483421112800000MicrodeletionsIGF2Beckwith-Wiedemann syndrome
248343142378815923802256MicroduplicationICR2Beckwith-Wiedemann syndrome
3483451112800000MicroduplicationKCNQ1OT1Beckwith-Wiedemann syndrome
4483471112800000MicroduplicationsICRBeckwith-Wiedemann syndrome
54849811152900000MethylationCDKN1CBeckwith-Wiedemann syndrome
64850011152900000MethylationH19Beckwith-Wiedemann syndrome
74850311152900000MethylationIGF2Beckwith-Wiedemann syndrome
86346612119100000124500000MicrodeletionACADSBeckwith-Wiedemann syndrome
96346712119100000124500000MicrodeletionBCL7ABeckwith-Wiedemann syndrome
106346812119100000124500000MicrodeletionHNF1ABeckwith-Wiedemann syndrome
116346912119100000124500000MicrodeletionHPDBeckwith-Wiedemann syndrome
126347012119100000124500000MicrodeletionP2RX7Beckwith-Wiedemann syndrome

Expression for genes affiliated with Beckwith-Wiedemann Syndrome

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

Pathways for genes affiliated with Beckwith-Wiedemann Syndrome

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GO Terms for genes affiliated with Beckwith-Wiedemann Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1placenta developmentGO:000189010.2ASCL2, CDKN1C, PHLDA2
2negative regulation of transcription from RNA polymerase II promoterGO:00001229.5ASCL2, CDKN1C, CTCF, NSD1, ZFP57
3regulation of gene expression by genetic imprintingGO:00063499.4CTCF, IGF2, KCNQ1, ZFP57

Sources for Beckwith-Wiedemann Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet