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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Beckwith-Wiedemann Syndrome:

Name: Beckwith-Wiedemann Syndrome 52 35 11 23 48 24 25 54 70 12 50 39 13 68
Wiedemann-Beckwith Syndrome 23 48 24 25 54 27
Bws 24 25 54 70
 
Emg Syndrome 48 70 27
Exomphalos-Macroglossia-Gigantism Syndrome 54 70
Exomphalos Macroglossia Gigantism Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
beckwith-wiedemann syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: adolescent,late childhood

HPO:

64
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:

OMIM52 130650
Disease Ontology11 DOID:5572
ICD1030 Q87.3
MeSH39 D001506
NCIt45 C34415
SNOMED-CT62 81780002
Orphanet54 ORPHA116
MESH via Orphanet40 D001506
UMLS via Orphanet69 C0004903
ICD10 via Orphanet31 Q87.3
MedGen37 C0004903

Summaries for Beckwith-Wiedemann Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways is TRP channels. 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.

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

UniProtKB/Swiss-Prot:70 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... 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 115)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome due to cdkn1c mutation12.2
2beckwith-wiedemann syndrome due to 11p15 microdeletion12.1
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
7macroglossia11.7
8perlman syndrome11.6
9hepatoblastoma11.5
10hemihypertrophy11.5
11silver-russell syndrome11.5
12adrenal cortical carcinoma11.3
13simpson-golabi-behmel syndrome, type 111.1
14hemihyperplasia, isolated11.1
15pancreatitis10.4
16nebulin-related early-onset distal myopathy10.3CDKN1C, IGF2
17ehlers-danlos/osteogenesis imperfecta syndrome10.3H19, IGF2
18hall-riggs mental retardation syndrome10.3H19, IGF2, KCNQ1OT1
19ceroid lipofuscinosis, neuronal, 13, kufs type10.3CDKN1C, IGF2, KCNQ1OT1
20epibulbar lipodermoid-preauricular appendage-polythelia syndrome10.3H19, IGF2, KCNQ1OT1
21toxin-mediated infectious botulism10.3H19, IGF2
22dental abscess10.3CDKN1C, H19, IGF2
23rhabdomyosarcoma10.3
24adenoma10.3
25microcephaly, seizures, and developmental delay10.3CDKN1C, H19, PHLDA2
26inclusion-cell disease10.3H19, IGF2
27omphalocele10.3
28hyperinsulinism10.3
29pancreatoblastoma10.3
30hypoglycemia10.3
31gigantism10.3
32malignant ovarian mixed epithelial neoplasm10.2CDKN1C, H19, IGF2, SLC22A18
33hemorrhagic fever10.2CDKN1C, H19, IGF2, SMPD1
34hemangioma of peripheral nerve10.2H19, SMPD1
35toxic encephalopathy10.2CDKN1C, PHLDA2
36exosc3-related pontocerebellar hypoplasia10.2PLAGL1, ZFP57
37neuroblastoma10.2
38medullary sponge kidney10.2
39deafness, autosomal recessive 6610.2KCNQ1OT1, PLAGL1, ZFP57
40pheochromocytoma10.1
41hepatitis10.1
42leukemia10.1
43laryngomalacia10.1CDKN1C, NSD1
44cerebral cavernous malformations-210.1CDKN1C, CTCF, H19, IGF2, KCNQ1OT1, NAP1L4
45argininosuccinic aciduria10.1CDKN1C, CTCF, H19, H19-ICR, IGF2, KCNQ1OT1
46prune belly syndrome10.1
47renal cell carcinoma10.1
48aniridia10.1
49hyperinsulinemic hypoglycemia10.1
50urethritis10.1

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



Diseases related to beckwith-wiedemann syndrome

Symptoms & Phenotypes for Beckwith-Wiedemann Syndrome

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Symptoms by clinical synopsis from OMIM:

130650

Clinical features from OMIM:

130650

Human phenotypes related to Beckwith-Wiedemann Syndrome:

 54 64 (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature64 54 Very frequent (99-80%) HP:0000098
2 neoplasm54 Very frequent (99-80%)
3 cryptorchidism64 54 Frequent (79-30%) HP:0000028
4 nephropathy64 54 Frequent (79-30%) HP:0000112
5 wide mouth64 54 Frequent (79-30%) HP:0000154
6 macroglossia64 54 Frequent (79-30%) HP:0000158
7 prominent occiput64 54 Frequent (79-30%) HP:0000269
8 coarse facial features64 54 Frequent (79-30%) HP:0000280
9 abnormality of earlobe54 Frequent (79-30%)
10 proptosis64 54 Frequent (79-30%) HP:0000520
11 congenital diaphragmatic hernia64 54 Frequent (79-30%) HP:0000776
12 melanocytic nevus64 54 Frequent (79-30%) HP:0000995
13 nevus flammeus64 54 Frequent (79-30%) HP:0001052
14 choroideremia64 54 Frequent (79-30%) HP:0001139
15 obesity64 54 Frequent (79-30%) HP:0001513
16 hemihypertrophy64 54 Frequent (79-30%) HP:0001528
17 umbilical hernia64 54 Frequent (79-30%) HP:0001537
18 omphalocele64 54 Frequent (79-30%) HP:0001539
19 redundant skin64 54 Frequent (79-30%) HP:0001582
20 cardiomegaly64 54 Frequent (79-30%) HP:0001640
21 exocrine pancreatic insufficiency64 54 Frequent (79-30%) HP:0001738
22 hypoglycemia64 54 Frequent (79-30%) HP:0001943
23 accelerated skeletal maturation64 54 Frequent (79-30%) HP:0005616
24 posterior helix pit64 54 Frequent (79-30%) HP:0008523
25 branchial cyst64 54 Frequent (79-30%) HP:0009796
26 anterior creases of earlobe64 54 Frequent (79-30%) HP:0009908
27 midface retrusion64 54 Frequent (79-30%) HP:0011800
28 asymmetric growth54 Frequent (79-30%)
29 inguinal hernia64 54 Occasional (29-5%) HP:0000023
30 vesicoureteral reflux64 54 Occasional (29-5%) HP:0000076
31 gonadoblastoma64 54 Occasional (29-5%) HP:0000150
32 cleft palate64 54 Occasional (29-5%) HP:0000175
33 large fontanelles64 54 Occasional (29-5%) HP:0000239
34 wide anterior fontanel64 54 Occasional (29-5%) HP:0000260
35 nephrolithiasis64 54 Occasional (29-5%) HP:0000787
36 hypothyroidism64 54 Occasional (29-5%) HP:0000821
37 diastasis recti64 54 Occasional (29-5%) HP:0001540
38 hypertrophic cardiomyopathy64 54 Occasional (29-5%) HP:0001639
39 splenomegaly64 54 Occasional (29-5%) HP:0001744
40 neurological speech impairment64 54 Occasional (29-5%) HP:0002167
41 hepatomegaly64 54 Occasional (29-5%) HP:0002240
42 malformation of the heart and great vessels54 Occasional (29-5%)
43 nephroblastoma64 54 Occasional (29-5%) HP:0002667
44 hepatoblastoma64 54 Occasional (29-5%) HP:0002884
45 neuroblastoma64 54 Occasional (29-5%) HP:0003006
46 prominent metopic ridge64 54 Occasional (29-5%) HP:0005487
47 multiple renal cysts64 54 Occasional (29-5%) HP:0005562
48 adrenocortical carcinoma64 54 Occasional (29-5%) HP:0006744
49 adrenocortical cytomegaly64 54 Occasional (29-5%) HP:0008186
50 congenital megaureter64 54 Occasional (29-5%) HP:0008676
51 feeding difficulties in infancy64 54 Occasional (29-5%) HP:0008872
52 sleep apnea64 54 Occasional (29-5%) HP:0010535
53 abnormality of pancreas morphology64 54 Occasional (29-5%) HP:0012090
54 leiomyosarcoma64 54 Occasional (29-5%) HP:0100243
55 urogenital fistula64 54 Occasional (29-5%) HP:0100589
56 enlarged kidney64 HP:0000105
57 abnormality of the ear64 HP:0000598
58 dandy-walker malformation64 HP:0001305
59 overgrowth64 HP:0001548
60 cardiomyopathy64 HP:0001638
61 neonatal hypoglycemia64 HP:0001998
62 overgrowth of external genitalia64 HP:0003247
63 pancreatic hyperplasia64 HP:0006277

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 3175123214-92-831703
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 3126933419-42-036462
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 39222068-78-2, 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 3205041575-94-410339178, 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 3293550-18-0, 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 3175131703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
8Etoposide phosphatePhase 31269
9Immunosuppressive AgentsPhase 313086
10Nucleic Acid Synthesis InhibitorsPhase 34962
11Anti-Bacterial AgentsPhase 311226
12Topoisomerase InhibitorsPhase 35069
13Antibiotics, AntitubercularPhase 37180
14Anti-Infective AgentsPhase 322062
15Antirheumatic AgentsPhase 310956
16Antineoplastic Agents, AlkylatingPhase 34603
17Alkylating AgentsPhase 34827
18Antineoplastic Agents, PhytogenicPhase 35602
19Antimitotic AgentsPhase 35657
20Dihydroxyphenylalanine143

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

About this section

Genetic tests related to Beckwith-Wiedemann Syndrome:

id Genetic test Affiliating Genes
1 Beckwith-Wiedemann Syndrome27 24 CDKN1C, H19, KCNQ1OT1
2 Emg Abnormality27

Anatomical Context for Beckwith-Wiedemann Syndrome

About this section

MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

36
Tongue, Kidney, Skin, Liver, Pancreas, Heart, 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 TissueAnatomical CompartmentCell Relevance
1 KidneyInterstitial StromaInterstitial Stroma Cells Affected by disease

Publications for Beckwith-Wiedemann Syndrome

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Articles related to Beckwith-Wiedemann Syndrome:

(show top 50)    (show all 550)
idTitleAuthorsYear
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

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

70
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 40)
id Gene Variation Type Significance SNP ID Assembly Location
1CDKN1CNM_ 000076.2(CDKN1C): c.333dupC (p.Ala112Argfs)duplicationPathogenicrs786205235GRCh38Chr 11, 2885157: 2885157
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.1810C> T (p.Arg604Ter)SNVPathogenicrs587784076GRCh37Chr 5, 176637210: 176637210
5NSD1NM_ 022455.4(NSD1): c.3659_ 3660delAG (p.Glu1220Alafs)deletionPathogenicrs587784104GRCh38Chr 5, 177212058: 177212059
6NSD1NM_ 022455.4(NSD1): c.4411C> T (p.Arg1471Ter)SNVPathogenicrs570278338GRCh38Chr 5, 177246710: 177246710
7NSD1NM_ 022455.4(NSD1): c.6349C> T (p.Arg2117Ter)SNVPathogenicrs587784190GRCh37Chr 5, 176719045: 176719045
8H19-ICR; ICR1NG_ 016165.1: g.(170_ ?)_ (?_ 2014)del1.8kbdeletionPathogenic
9H19; H19-ICR; ICR1; MRPL23NR_ 002196.1(H19): n.-7080_ -1781deldeletionPathogenicGRCh38Chr 11, 1999616: 2004919
10H19H19, 1.8-KB DELdeletionPathogenic
11H19H19, 5.3-KB DELdeletionPathogenic
12CDKN1CNM_ 000076.2(CDKN1C): c.845C> G (p.Ser282Ter)SNVPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
13CDKN1CNM_ 000076.2(CDKN1C): c.845C> A (p.Ser282Ter)SNVPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
14CDKN1CNM_ 000076.2(CDKN1C): c.449delC (p.Pro150Glnfs)deletionPathogenicrs786205234GRCh38Chr 11, 2885041: 2885041
15CDKN1CNM_ 000076.2(CDKN1C): c.611_ 635dup25 (p.Ala213Glyfs)duplicationPathogenicrs786205238GRCh38Chr 11, 2884855: 2884879
16CDKN1CNM_ 000076.2(CDKN1C): c.629_ 630insGCTCCGGCCCC (p.Ala211Leufs)insertionPathogenicrs786205241GRCh38Chr 11, 2884860: 2884861
17CDKN1CNM_ 000076.2(CDKN1C): c.631delGinsAA (p.Ala211Asnfs)indelPathogenicrs786205239GRCh38Chr 11, 2884859: 2884859
18CDKN1CNM_ 000076.2(CDKN1C): c.635delC (p.Pro212Argfs)deletionPathogenicrs786205237GRCh38Chr 11, 2884855: 2884855
19CDKN1CNM_ 000076.2(CDKN1C): c.641_ 644delCGGCinsGGG (p.Pro214Argfs)indelPathogenicrs786205240GRCh38Chr 11, 2884846: 2884849
20CDKN1CNM_ 000076.2(CDKN1C): c.694C> T (p.Gln232Ter)SNVPathogenicrs797045445GRCh37Chr 11, 2906026: 2906026
21NSD1NM_ 022455.4(NSD1): c.2350C> T (p.Gln784Ter)SNVLikely pathogenicrs374740802GRCh38Chr 5, 177210749: 177210749
22NSD1NM_ 022455.4(NSD1): c.3548_ 3549insGA (p.Glu1184Metfs)insertionPathogenicrs878855075GRCh38Chr 5, 177211947: 177211948
23NSD1NM_ 022455.4(NSD1): c.5994delG (p.Met1998Ilefs)deletionPathogenicrs878855077GRCh37Chr 5, 176709567: 176709567
24NSD1NM_ 022455.4(NSD1): c.5581C> T (p.Arg1861Ter)SNVPathogenicrs886041218GRCh37Chr 5, 176700744: 176700744
25TRPV4NM_ 021625.4(TRPV4): c.947G> A (p.Arg316His)SNVPathogenicrs387906905GRCh37Chr 12, 110236624: 110236624
26NSD1NM_ 022455.4(NSD1): c.2362C> T (p.Arg788Ter)SNVPathogenicrs1057520339GRCh37Chr 5, 176637762: 176637762
27NSD1NM_ 022455.4(NSD1): c.2316_ 2329dupAGCAAATCAAGCTC (p.Leu777Glnfs)duplicationPathogenicGRCh37Chr 5, 176637716: 176637729
28NSD1NM_ 022455.4(NSD1): c.2619_ 2623delTGAGG (p.Glu874Cysfs)deletionPathogenicrs1060501490GRCh38Chr 5, 177211018: 177211022
29NSD1NM_ 022455.4(NSD1): c.880_ 881delGA (p.Glu294Ilefs)deletionPathogenicrs1060501492GRCh38Chr 5, 177135983: 177135984
30NSD1NM_ 022455.4(NSD1): c.6426C> G (p.Tyr2142Ter)SNVPathogenicrs1060501493GRCh38Chr 5, 177292121: 177292121
31NSD1NM_ 022455.4(NSD1): c.6487C> T (p.Gln2163Ter)SNVPathogenicrs1060501494GRCh38Chr 5, 177293855: 177293855
32NSD1NM_ 022455.4(NSD1): c.1654delT (p.Ser552Profs)deletionPathogenicrs1060501497GRCh38Chr 5, 177210053: 177210053
33NSD1NM_ 022455.4(NSD1): c.5276T> C (p.Ile1759Thr)SNVLikely pathogenicrs1060501498GRCh38Chr 5, 177267691: 177267691
34NSD1NSD1, 1-BP INS, 4976GinsertionPathogenic
35NSD1NSD1, 4-BP DEL, 7968GACAdeletionPathogenic
36KCNQ1OT1KCNQ1OT1, DELdeletionPathogenic
37CDKN1CNM_ 000076.2(CDKN1C): c.139C> T (p.Gln47Ter)SNVPathogenicrs137852766GRCh37Chr 11, 2906581: 2906581
38CDKN1CCDKN1C, 1-BP DEL/2-BP INS, 1086T-AGindelPathogenic
39CDKN1CNM_ 000076.2(CDKN1C): c.310_ 311delCTinsG (p.Leu104Glyfs)indelPathogenicrs387906399GRCh37Chr 11, 2906409: 2906410
40CDKN1CNM_ 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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Pathways related to Beckwith-Wiedemann Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.1TRPM5, TRPV4

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
1regulation of gene expression by genetic imprintingGO:00063499.8CTCF, IGF2, KCNQ1, ZFP57

Sources for Beckwith-Wiedemann Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
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40MESH via Orphanet
41MGI
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50Novoseek
52OMIM
53OMIM via Orphanet
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58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet