MCID: BCK002
MIFTS: 54

Beckwith-Wiedemann Syndrome malady

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

Aliases & Classifications for Beckwith-Wiedemann Syndrome

About this section
Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Beckwith-Wiedemann Syndrome:

Name: Beckwith-Wiedemann Syndrome 49 32 10 11 21 45 22 23 47 12 51 67 36 65
Wiedemann-Beckwith Syndrome 21 45 22 23 51 24
Bws 22 23 51 67
 
Exomphalos-Macroglossia-Gigantism Syndrome 51 67
Emg Syndrome 45 67
Exomphalos Macroglossia Gigantism Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
beckwith-wiedemann syndrome:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: adolescent,late childhood

HPO:

61
beckwith-wiedemann syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 130650
Disease Ontology10 DOID:5572
ICD1027 Q87.3
MeSH36 D001506
NCIt42 C34415
SNOMED-CT59 81780002
Orphanet51 116
ICD10 via Orphanet28 Q87.3
MESH via Orphanet37 D001506
UMLS via Orphanet66 C0004903
MedGen34 C0004903
UMLS65 C0004903

Summaries for Beckwith-Wiedemann Syndrome

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NIH Rare Diseases:45 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 perlman syndrome, and has symptoms including tall stature, asymmetric growth and abnormality of the helix. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C). Affiliated tissues include kidney, skin and tongue.

Disease Ontology:10 A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.

Genetics Home Reference:23 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:49 Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The... (130650) more...

UniProtKB/Swiss-Prot:67 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:68 Beckwith–Wiedemann syndrome (/ˈbɛkˌwɪθ ˈviːdə.mən/; abbreviated BWS) is an overgrowth... more...

GeneReviews summary 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 348)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome due to cdkn1c mutation34.5H19, IGF2
2perlman syndrome31.8CDKN1C, IGF2
3beckwith-wiedemann syndrome due to 11p15 microdeletion12.6
4beckwith-wiedemann syndrome due to 11p15 translocation/inversion12.6
5beckwith-wiedemann syndrome due to imprinting defect of 11p1512.6
6beckwith-wiedemann syndrome due to nsd1 mutation12.6
7beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 1112.6
8beckwith-wiedemann syndrome due to 11p15 microduplication12.6
9adrenal cortical carcinoma10.8
10breast cancer10.8
11endotheliitis10.7
12prostatitis10.7
13silver-russell syndrome10.7
14simpson-golabi-behmel syndrome, type 110.7
15hepatoblastoma10.7
16macroglossia10.7
17pancreatitis10.7
18prostate cancer10.6
19ischemia10.6
20schizophrenia10.6
21lung cancer10.6
22renal cell carcinoma10.6
23arthritis10.6
24lymphoma10.6
25sarcoma10.6
26cerebritis10.6
27neuronitis10.6
28asthma10.5
29otitis media10.5
30hemangioma10.5
31leukemia10.5
32melanoma10.5
33cervicitis10.5
34syphilis10.5
35thyroiditis10.5
36cholesteatoma10.5
37muscular dystrophy10.5
38apraxia10.5
39pasteurella multocida infection10.5
40silver-russell syndrome due to maternal uniparental disomy of chromosome 1110.4H19, IGF2
41rheumatoid arthritis10.4
42myocardial infarction10.4
43obesity10.4
44prader-willi syndrome10.4
45menkes disease10.4
46occipital horn syndrome10.4
47congestive heart failure10.4
48critical limb ischemia10.4
49hepatitis10.4
50primary biliary cirrhosis10.4

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



Diseases related to beckwith-wiedemann syndrome

Symptoms for Beckwith-Wiedemann Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

130650

Clinical features from OMIM:

130650

Symptoms:

 51 (show all 38)
  • neoplasms/tumors
  • tall stature/gigantism/growth acceleration
  • mid-facial hypoplasia/short/small midface
  • macrostomia/big mouth
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • bifid/cleft ear lobe/ear lobe pits
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • omphalocele/exomphalos
  • umbilical hernia
  • loose skin/skin relaxation/excess skin/creases
  • pigmented naevi/naevus pigmentosus/lentigo
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • diaphragmatic hernia/defect/agenesis
  • cardiomegaly
  • renal disease/nephropathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • anomaly of pancreatic hormones
  • hypoglycemia
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • inguinal/inguinoscrotal/crural hernia
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • hepatomegaly/liver enlargement (excluding storage disease)
  • structural anomalies of the pancreas
  • splenomegaly
  • apnea/sleep apnea
  • congenital cardiac anomaly/malformation/cardiopathy
  • cardiomyopathy/hypertrophic/dilated
  • polycystic kidneys
  • hypothyroidy
  • adrenal glands anomalies
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • neuroblastoma
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • monozygotic twinning

HPO human phenotypes related to Beckwith-Wiedemann Syndrome:

(show all 56)
id Description Frequency HPO Source Accession
1 tall stature hallmark (90%) HP:0000098
2 asymmetric growth typical (50%) HP:0100555
3 abnormality of the helix typical (50%) HP:0011039
4 anterior creases of earlobe typical (50%) HP:0009908
5 hypoglycemia typical (50%) HP:0001943
6 exocrine pancreatic insufficiency typical (50%) HP:0001738
7 cardiomegaly typical (50%) HP:0001640
8 omphalocele typical (50%) HP:0001539
9 umbilical hernia typical (50%) HP:0001537
10 melanocytic nevus typical (50%) HP:0000995
11 cutis laxa typical (50%) HP:0000973
12 congenital diaphragmatic hernia typical (50%) HP:0000776
13 abnormality of periauricular region typical (50%) HP:0000383
14 malar flattening typical (50%) HP:0000272
15 abnormality of the tongue typical (50%) HP:0000157
16 wide mouth typical (50%) HP:0000154
17 nephropathy typical (50%) HP:0000112
18 cryptorchidism typical (50%) HP:0000028
19 urogenital fistula occasional (7.5%) HP:0100589
20 sarcoma occasional (7.5%) HP:0100242
21 neuroblastoma occasional (7.5%) HP:0003006
22 neoplasm of the liver occasional (7.5%) HP:0002896
23 hepatomegaly occasional (7.5%) HP:0002240
24 neurological speech impairment occasional (7.5%) HP:0002167
25 apnea occasional (7.5%) HP:0002104
26 splenomegaly occasional (7.5%) HP:0001744
27 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
28 abnormality of the adrenal glands occasional (7.5%) HP:0000834
29 hypothyroidism occasional (7.5%) HP:0000821
30 cleft palate occasional (7.5%) HP:0000175
31 polycystic kidney dysplasia occasional (7.5%) HP:0000113
32 dandy-walker malformation rare (5%) HP:0001305
33 adrenocortical cytomegaly HP:0008186
34 adrenocortical carcinoma HP:0006744
35 pancreatic hyperplasia HP:0006277
36 accelerated skeletal maturation HP:0005616
37 overgrowth of external genitalia HP:0003247
38 hepatoblastoma HP:0002884
39 nephroblastoma (wilms tumor) HP:0002667
40 hepatomegaly HP:0002240
41 neonatal hypoglycemia HP:0001998
42 cardiomegaly HP:0001640
43 cardiomyopathy HP:0001638
44 overgrowth HP:0001548
45 diastasis recti HP:0001540
46 omphalocele HP:0001539
47 hemihypertrophy HP:0001528
48 abnormality of the ear HP:0000598
49 proptosis HP:0000520
50 coarse facial features HP:0000280
51 prominent occiput HP:0000269
52 large fontanelles HP:0000239
53 macroglossia HP:0000158
54 gonadoblastoma HP:0000150
55 enlarged kidneys HP:0000105
56 cryptorchidism HP:0000028

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome

About this section

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DactinomycinapprovedPhase 34650-76-02019, 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
CarboplatinapprovedPhase 3188541575-94-410339178, 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+)
3
Doxorubicinapproved, investigationalPhase 3158223214-92-831703
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
4
EtoposideapprovedPhase 3116933419-42-036462
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 Phosphate
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
5
Vincristineapproved, investigationalPhase 38632068-78-2, 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
6
Cyclophosphamideapproved, investigationalPhase 3264350-18-0, 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
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 3158231703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
8Topoisomerase InhibitorsPhase 34081
9Tubulin ModulatorsPhase 34279
10Antibiotics, AntitubercularPhase 35971
11Nucleic Acid Synthesis InhibitorsPhase 33836
12Etoposide phosphatePhase 31169
13Anti-Bacterial AgentsPhase 39140
14Antineoplastic Agents, PhytogenicPhase 34294
15Antimitotic AgentsPhase 34296
16Anti-Infective AgentsPhase 317220
17Dihydroxyphenylalanine123

Interventional clinical trials:

idNameStatusNCT IDPhase
1Combination Chemotherapy and Surgery in Treating Young Patients With Wilms TumorSuspendedNCT00945009Phase 3
2Genomic Imprinting and Assisted Reproductive TechnologiesCompletedNCT00773825
3Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell SyndromesRecruitingNCT01842659
4Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary AnomaliesRecruitingNCT00503893
518F-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 Syndrome22 KCNQ1OT1, CDKN1C, H19, NSD1

Anatomical Context for Beckwith-Wiedemann Syndrome

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MalaCards organs/tissues related to Beckwith-Wiedemann Syndrome:

33
Kidney, Skin, Tongue, Liver, Testes, Breast, Adrenal gland

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 508)
idTitleAuthorsYear
1
Prevalence of coenurosis in sheep and goats at three slaughter slabs in Ngorongoro District, Tanzania. (26306799)
2015
2
Rare case of adult jejunojejunal intussusception secondary to angiolipoma. (25883255)
2015
3
Abnormal cytoplasmic extensions associated with active I+IIbI^3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. (25806962)
2015
4
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. (24398331)
2014
5
Effect of binghuang ear drop treatment on otitis externa in Guinea pigs. (25269771)
2014
6
Imaging features of juxtacortical chondroma in children. (23955368)
2014
7
Is tamoxifen associated with an increased risk for thromboembolic complications in patients undergoing microvascular breast reconstruction? (23423877)
2013
8
A rare but specific subset of adult AML patients can be defined by the cytogenetically cryptic NUP98-NSD1 fusion gene. (22945772)
2013
9
Wnt/I^-Catenin Signaling in Alzheimer's Disease. (24365184)
2013
10
PKC-I^ exacerbates in vitro brain barrier damage in hyperglycemic settings via regulation of RhoA/Rho-kinase/MLC2 pathway. (23963366)
2013
11
Percutaneous transluminal angioplasty improves glucose control and quality of life in patients with critical limb ischemia. (23280023)
2012
12
Randomized controlled trial of subconjunctival bevacizumab injection in impending recurrent pterygium: a pilot study. (22081150)
2012
13
Dectin-1 is an extracellular pathogen sensor for the induction and processing of IL-1I^ via a noncanonical caspase-8 inflammasome. (22267217)
2012
14
Helicobacter pylori infection and administration of non-steroidal anti-inflammatory drugs down-regulate the expression of gastrokine-1 in gastric mucosa. (22798109)
2012
15
An infant with aortoiliac thrombosis due to congenital protein C deficiency: anesthetic implications. (22986322)
2012
16
Mutations in the RAS/RAF/MAP kinase pathway commonly occur in gallbladder adenomas but are uncommon in gallbladder adenocarcinomas. (21307665)
2011
17
Phospholipid scramblase 1 mediates hepatitis C virus entry into host cells. (21806988)
2011
18
Paraneoplastic pemphigus with Castleman's disease and bronchiolitis obliterans. (22181577)
2011
19
Improved outcomes using tacrolimus/sirolimus for graft-versus-host disease prophylaxis with a reduced-intensity conditioning regimen for allogeneic hematopoietic cell transplant as treatment of myelofibrosis. (19786111)
2010
20
Cellular processes of v-Src transformation revealed by gene profiling of primary cells--implications for human cancer. (20152043)
2010
21
Protracted febrile myalgia in two children with familial Mediterranean fever. (20723111)
2010
22
Transcriptional regulation of Rex1 (zfp42) in normal prostate epithelial cells and prostate cancer cells. (20232320)
2010
23
Loss expression of O6-methylguanine DNA methyltransferase by promoter hypermethylation and its relationship to betel quid chewing in oral squamous cell carcinoma. (20451846)
2010
24
Role of echocardiography in the diagnosis of constrictive pericarditis. (19130999)
2009
25
Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes. (18506409)
2008
26
Right traumatic carotico-cavernous fistula with bilateral eye signs and post-treatment right pseudo Argyll Robertson pupil. (18417835)
2008
27
Emphysematous pyelonephritis in a diabetic patient with pelvic-ureteric stone. (18705456)
2007
28
Cloning, expression, purification, and some properties of calf purine nucleoside phosphorylase. (18066913)
2007
29
Plexiform schwannoma of scalp: a case report with brief review of literature. (18306559)
2007
30
Chemokines and left ventricular function in patients with acute myocardial infarction. (17574102)
2007
31
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. (16040264)
2005
32
Effects of losartan and captopril on left ventricular systolic and diastolic function after acute myocardial infarction: results of the Optimal Trial in Myocardial Infarction with Angiotensin II Antagonist Losartan (OPTIMAAL) echocardiographic substudy. (14999200)
2004
33
Neuron specific enolase concentration is increased in serum and decreased in platelets of patients with active systemic sclerosis. (14719201)
2003
34
Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. (12437929)
2002
35
Highly reliable heterologous system for evaluating resistance of clinical herpes simplex virus isolates to nucleoside analogues. (11238837)
2001
36
Differential effect of simvastatin on various signal transduction intermediates in cultured human smooth muscle cells. (11286990)
2001
37
Interleukin-8 messenger ribonucleic acid expression correlates with tumor progression, tumor angiogenesis, patient survival, and timing of relapse in non-small-cell lung cancer. (11069840)
2000
38
Primary disease recurrence after liver transplantation for alveolar echinococcosis: long-term evaluation in 15 patients. (10498634)
1999
39
Infrequent mutations of the hOGG1 gene, that is involved in the excision of 8-hydroxyguanine in damaged DNA, in human gastric cancer. (9765618)
1998
40
Detection of bone sialoprotein in human breast cancer tissue and cell lines at both protein and messenger ribonucleic acid levels. (8765320)
1996
41
Effect of chronic blockade of the opiodergic receptor on insulin resistance in a hyperandrogenic woman]. (7809540)
1994
42
Injections of calmidazolium chloride into the ipsilateral medial vestibular nucleus or fourth ventricle reduce spontaneous ocular nystagmus following unilateral labyrinthectomy in guinea pigs. (8491266)
1993
43
The effects of weight loss and apolipoprotein E polymorphism on serum lipids, apolipoproteins A-I and B, and lipoprotein(a). (8118476)
1993
44
Residues critical for retroviral integrative recombination in a region that is highly conserved among retroviral/retrotransposon integrases and bacterial insertion sequence transposases. (1314954)
1992
45
Acute pyelonephritis in the elderly. (7079812)
1982
46
Idiopathic isolated granulomatous gastritis: spontaneous resolution without surgical intervention. (7371469)
1980
47
Malignant fibrous histiocytoma of bone. (233365)
1978
48
Collective outbreaks of bovine actinobacillosis. (926504)
1977
49
Gall bladder disease. (13184295)
1954
50

Variations for Beckwith-Wiedemann Syndrome

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

67
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 25)
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> Csingle nucleotide variantPathogenicrs587777866GRCh38Chr 11, 2883997: 2883997
4NG_016165.1: g.(170_?)_(?_2014)del1.8kbdeletionPathogenic
5NR_002196.1(H19): n.-7080_-1781deldeletionPathogenicGRCh38Chr 11, 1999616: 2004919
6H19H19, 1.8-KB DELdeletionPathogenic
7H19H19, 5.3-KB DELdeletionPathogenic
8CDKN1CNM_000076.2(CDKN1C): c.845C> G (p.Ser282Ter)single nucleotide variantPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
9CDKN1CNM_000076.2(CDKN1C): c.845C> A (p.Ser282Ter)single nucleotide variantPathogenicrs267606716GRCh37Chr 11, 2905340: 2905340
10CDKN1CNM_000076.2(CDKN1C): c.449delC (p.Pro150Glnfs)deletionPathogenicrs786205234GRCh37Chr 11, 2906271: 2906271
11CDKN1CNM_000076.2(CDKN1C): c.611_635dup25 (p.Ala213Glyfs)duplicationPathogenicrs786205238GRCh38Chr 11, 2884855: 2884879
12CDKN1CNM_000076.2(CDKN1C): c.629_630insGCTCCGGCCCC (p.Ala211Leufs)insertionPathogenicrs786205241GRCh38Chr 11, 2884860: 2884861
13CDKN1CNM_000076.2(CDKN1C): c.631delGinsAA (p.Ala211Asnfs)indelPathogenicrs786205239GRCh38Chr 11, 2884859: 2884859
14CDKN1CNM_000076.2(CDKN1C): c.635delC (p.Pro212Argfs)deletionPathogenicrs786205237GRCh38Chr 11, 2884855: 2884855
15CDKN1CNM_000076.2(CDKN1C): c.641_644delCGGCinsGGG (p.Pro214Argfs)indelPathogenicrs786205240GRCh38Chr 11, 2884846: 2884849
16CDKN1CNM_000076.2(CDKN1C): c.644_649dupCCCCGG (p.Pro216_Asp217insAlaPro)duplicationPathogenicrs772704243GRCh38Chr 11, 2884841: 2884846
17CDKN1CNM_000076.2(CDKN1C): c.694C> T (p.Gln232Ter)single nucleotide variantPathogenicrs797045445GRCh38Chr 11, 2884796: 2884796
18NSD1NM_022455.4(NSD1): c.2350C> T (p.Gln784Ter)single nucleotide variantLikely pathogenicrs374740802GRCh38Chr 5, 177210749: 177210749
19NSD1NSD1, 1-BP INS, 4976GinsertionPathogenic
20NSD1NSD1, 4-BP DEL, 7968GACAdeletionPathogenic
21KCNQ1OT1KCNQ1OT1, DELdeletionPathogenic
22CDKN1CNM_000076.2(CDKN1C): c.139C> T (p.Gln47Ter)single nucleotide variantPathogenicrs137852766GRCh37Chr 11, 2906581: 2906581
23CDKN1CCDKN1C, 1-BP DEL/2-BP INS, 1086T-AGindelPathogenic
24CDKN1CNM_000076.2(CDKN1C): c.310_311delCTinsG (p.Leu104Glyfs)indelPathogenicrs387906399GRCh37Chr 11, 2906409: 2906410
25CDKN1CNM_000076.2(CDKN1C): c.740C> A (p.Ser247Ter)single nucleotide variantPathogenicrs104894200GRCh37Chr 11, 2905980: 2905980

Cosmic variations for Beckwith-Wiedemann Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM33765AKT1skin,ear,Overgrowth syndrome,NS3
2COSM33765AKT1skin,ear,Overgrowth syndrome,NS3
3COSM33765AKT1skin,ear,Overgrowth syndrome,Proteus syndrome1

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:000189010.2CDKN1C, PHLDA2

Sources for Beckwith-Wiedemann Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet