MCID: RBN001
MIFTS: 66

Rubinstein-Taybi Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Cancer diseases, Mental diseases, Smell/Taste diseases categories

Aliases & Classifications for Rubinstein-Taybi Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 42NCIt, 59SNOMED-CT, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Rubinstein-Taybi Syndrome:

Name: Rubinstein-Taybi Syndrome 49 10 11 68 21 45 22 23 47 12 51 24 65 36
Broad Thumb-Hallux Syndrome 10 68 45 23 51 67
Rubinstein Syndrome 10 45 67
Rsts 68 45 23
Broad Thumbs-Hallux Syndrome 21 22
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 45
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 67
 
Chromosome 16p13.3 Deletion Syndrome, Proximal 65
Proximal Chromosome 16p13.3 Deletion Syndrome 10
Broad Thumbs-Halluces Syndrome 51
Rubinstein-Taybi Syndrome 1 67
Rsts1 67
Rts 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
rubinstein-taybi syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

OMIM49 180849
Disease Ontology10 DOID:1933
NCIt42 C75466
ICD9CM29 759.89
SNOMED-CT59 157032007, 45582004
Orphanet51 783
ICD10 via Orphanet28 Q87.2
MESH via Orphanet37 D012415
UMLS via Orphanet66 C0035934
MedGen34 C0035934

Summaries for Rubinstein-Taybi Syndrome

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OMIM:49 Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal... (180849) more...

MalaCards based summary: Rubinstein-Taybi Syndrome, also known as broad thumb-hallux syndrome, is related to rubinstein-taybi syndrome 2 and keloids, and has symptoms including abnormality of the palate, hypertelorism and convex nasal ridge. An important gene associated with Rubinstein-Taybi Syndrome is CREBBP (CREB Binding Protein), and among its related pathways are CD209 (DC-SIGN) signaling and Glucocorticoid receptor regulatory network. Affiliated tissues include eye, heart and kidney, and related mouse phenotypes are craniofacial and respiratory system.

Disease Ontology:10 An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.

Genetics Home Reference:23 Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.

NIH Rare Diseases:45 Rubinstein-taybi syndrome is a condition characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. the condition may be caused by a mutation in the crebbp or ep300 gene, or as the result of a deletion of genetic material from the short (p) arm of chromosome 16. in some affected people, the cause is unknown. while rubinstein-taybi syndrome is inherited in an autosomal dominant manner, most cases result from a new mutation in the responsible gene and are not inherited from a parent. treatment is symptomatic and supportive. last updated: 12/2/2014

UniProtKB/Swiss-Prot:67 Rubinstein-Taybi syndrome 1: A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies.

Wikipedia:68 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...

GeneReviews summary for rsts

Related Diseases for Rubinstein-Taybi Syndrome

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Diseases in the Rubinstein-Taybi Syndrome family:

Rubinstein-Taybi Syndrome 2 Rubinstein Taybi Like Syndrome
Crebbp-Related Rubinstein-Taybi Syndrome Ep300-Related Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome Due to Crebbp Mutations Rubinstein-Taybi Syndrome Due to Ep300 Haploinsufficiency

Diseases related to Rubinstein-Taybi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 790)
idRelated DiseaseScoreTop Affiliating Genes
1rubinstein-taybi syndrome 210.8
2keloids10.7
3breast cancer10.7
4cervicitis10.6
5ep300-related rubinstein-taybi syndrome10.6
6prostate cancer10.5
7coloboma10.5
8scoliosis10.5
9crebbp-related rubinstein-taybi syndrome10.5
10rubinstein-taybi syndrome due to crebbp mutations10.5
11rubinstein-taybi syndrome due to 16p13.3 microdeletion10.5
12rubinstein-taybi syndrome due to ep300 haploinsufficiency10.5
13colorectal cancer10.5
14prostatitis10.5
15lung cancer10.5
16adenocarcinoma10.5
17sarcoma10.5
18melanoma10.5
19neuroblastoma10.4
20medulloblastoma10.4
21congenital hypothyroidism10.4
22obstructive sleep apnea10.4
23hypothyroidism10.4
24sleep apnea10.4
25thyroiditis10.4
26chiari malformation10.4
27slipped capital femoral epiphysis10.4
28intellectual disability10.4
29gastric cancer10.4
30radiation induced cancer10.4
31tongue squamous cell carcinoma10.4
32nervous system cancer10.4
33malaria10.4
34squamous cell carcinoma, head and neck10.4
35cervical squamous cell carcinoma10.4
36myeloid leukemia10.4
37gastrointestinal system cancer10.4
38hepatocellular carcinoma10.4
39thoracic cancer10.4
40neuroectodermal tumor10.4
41ewing sarcoma10.4
42brain cancer10.4
43peritonitis10.4
44glioblastoma10.4
45cerebrovascular disease10.3
46embryonal cancer10.3
47small cell carcinoma10.3
48spondylosis10.3
49hepatitis a10.3
50germ cell and embryonal cancer10.3

Graphical network of the top 20 diseases related to Rubinstein-Taybi Syndrome:



Diseases related to rubinstein-taybi syndrome

Symptoms for Rubinstein-Taybi Syndrome

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Symptoms by clinical synopsis from OMIM:

180849

Clinical features from OMIM:

180849

Symptoms:

 51 (show all 41)
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • telecanthus/canthal dystopy
  • beaked nose
  • high vaulted/narrow palate
  • short hand/brachydactyly
  • broad/bifid thumb
  • broad/bifid big toe
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperextensible joints/articular hyperlaxity
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • strabismus/squint
  • high arched eyebrows
  • epicanthic folds
  • defect/anomaly of lacrimal system
  • broad nasal root
  • anomalies of teeth and dentition
  • multiple caries
  • low set ears/posteriorly rotated ears
  • terminal/third phalangeal bone of fingers broadened/deviated
  • clinodactyly of fifth finger
  • terminal broadening/clubbing of toes
  • hirsutism/hypertrichosis/increased body hair
  • constipation
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hyperactivity/attention deficit
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • ptosis
  • hearing loss/hypoacusia/deafness
  • syndactyly of fingers/interdigital palm
  • abnormal scarring/cheloids/hypertrophic scars
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • polyhydramnios

HPO human phenotypes related to Rubinstein-Taybi Syndrome:

(show all 157)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 hypertelorism hallmark (90%) HP:0000316
3 convex nasal ridge hallmark (90%) HP:0000444
4 downslanted palpebral fissures hallmark (90%) HP:0000494
5 telecanthus hallmark (90%) HP:0000506
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 joint hypermobility hallmark (90%) HP:0001382
8 preaxial foot polydactyly hallmark (90%) HP:0001841
9 short stature hallmark (90%) HP:0004322
10 abnormality of thumb phalanx hallmark (90%) HP:0009602
11 cognitive impairment hallmark (90%) HP:0100543
12 cryptorchidism typical (50%) HP:0000028
13 microcephaly typical (50%) HP:0000252
14 epicanthus typical (50%) HP:0000286
15 micrognathia typical (50%) HP:0000347
16 low-set, posteriorly rotated ears typical (50%) HP:0000368
17 wide nasal bridge typical (50%) HP:0000431
18 strabismus typical (50%) HP:0000486
19 glaucoma typical (50%) HP:0000501
20 lacrimation abnormality typical (50%) HP:0000632
21 carious teeth typical (50%) HP:0000670
22 hypertrichosis typical (50%) HP:0000998
23 constipation typical (50%) HP:0002019
24 respiratory insufficiency typical (50%) HP:0002093
25 highly arched eyebrow typical (50%) HP:0002553
26 malformation of the heart and great vessels typical (50%) HP:0002564
27 clinodactyly of the 5th finger typical (50%) HP:0004209
28 attention deficit hyperactivity disorder typical (50%) HP:0007018
29 abnormality of the distal phalanx of finger typical (50%) HP:0009832
30 clubbing of toes typical (50%) HP:0100760
31 hearing impairment occasional (7.5%) HP:0000365
32 ptosis occasional (7.5%) HP:0000508
33 atypical scarring of skin occasional (7.5%) HP:0000987
34 seizures occasional (7.5%) HP:0001250
35 polyhydramnios occasional (7.5%) HP:0001561
36 abnormality of the hip bone occasional (7.5%) HP:0003272
37 finger syndactyly occasional (7.5%) HP:0006101
38 autosomal dominant inheritance HP:0000006
39 cryptorchidism HP:0000028
40 hypospadias HP:0000047
41 shawl scrotum HP:0000049
42 abnormality of the kidney HP:0000077
43 bifid uterus HP:0000136
44 narrow mouth HP:0000160
45 narrow palate HP:0000189
46 high palate HP:0000218
47 microcephaly HP:0000252
48 wide anterior fontanel HP:0000260
49 delayed cranial suture closure HP:0000270
50 facial grimacing HP:0000273
51 retrognathia HP:0000278
52 epicanthus HP:0000286
53 low anterior hairline HP:0000294
54 hypoplasia of the maxilla HP:0000327
55 micrognathia HP:0000347
56 hearing impairment HP:0000365
57 low-set ears HP:0000369
58 abnormality of the pinna HP:0000377
59 wide nasal bridge HP:0000431
60 convex nasal ridge HP:0000444
61 abnormality of the cornea HP:0000481
62 strabismus HP:0000486
63 deeply set eye HP:0000490
64 downslanted palpebral fissures HP:0000494
65 glaucoma HP:0000501
66 ptosis HP:0000508
67 cataract HP:0000518
68 proptosis HP:0000520
69 long eyelashes HP:0000527
70 abnormality of refraction HP:0000539
71 thick eyebrow HP:0000574
72 nasolacrimal duct obstruction HP:0000579
73 coloboma HP:0000589
74 dental crowding HP:0000678
75 dental malocclusion HP:0000689
76 autism HP:0000717
77 stereotypic behavior HP:0000733
78 short attention span HP:0000736
79 self-mutilation HP:0000742
80 delayed speech and language development HP:0000750
81 hyperactivity HP:0000752
82 agoraphobia HP:0000756
83 pectus excavatum HP:0000767
84 single transverse palmar crease HP:0000954
85 cafe-au-lait spot HP:0000957
86 hirsutism HP:0001007
87 high axial triradius HP:0001042
88 chorioretinal dystrophy HP:0001135
89 syndactyly HP:0001159
90 prominent fingertip pads HP:0001212
91 intellectual disability HP:0001249
92 seizures HP:0001250
93 muscular hypotonia HP:0001252
94 agenesis of corpus callosum HP:0001274
95 bimanual synkinesia HP:0001335
96 hyperreflexia HP:0001347
97 flexion contracture HP:0001371
98 joint laxity HP:0001388
99 heterogeneous HP:0001425
100 failure to thrive HP:0001508
101 polyhydramnios HP:0001561
102 laryngomalacia HP:0001601
103 ventricular septal defect HP:0001629
104 atria septal defect HP:0001631
105 patent ductus arteriosus HP:0001643
106 pes planus HP:0001763
107 truncal obesity HP:0001956
108 frontal bossing HP:0002007
109 constipation HP:0002019
110 tethered cord HP:0002144
111 low posterior hairline HP:0002162
112 phonophobia HP:0002183
113 frontal upsweep of hair HP:0002236
114 aganglionic megacolon HP:0002251
115 unsteady gait HP:0002317
116 eeg abnormality HP:0002353
117 poor coordination HP:0002370
118 highly arched eyebrow HP:0002553
119 scoliosis HP:0002650
120 parietal foramina HP:0002697
121 large foramen magnum HP:0002700
122 delayed skeletal maturation HP:0002750
123 recurrent upper respiratory tract infections HP:0002788
124 hypoplastic iliac wing HP:0002866
125 flared iliac wings HP:0002869
126 obstructive sleep apnea HP:0002870
127 respiratory difficulties HP:0002880
128 patellar dislocation HP:0002999
129 dislocated radial head HP:0003083
130 spina bifida occulta HP:0003298
131 abnormality of the cervical spine HP:0003319
132 sporadic HP:0003745
133 variable expressivity HP:0003828
134 clinodactyly of the 5th finger HP:0004209
135 short stature HP:0004322
136 deviated nasal septum HP:0004411
137 capillary hemangiomas HP:0005306
138 avascular necrosis of the capital femoral epiphysis HP:0005743
139 radial deviation of thumb terminal phalanx HP:0005895
140 hypoplasia of dental enamel HP:0006297
141 abnormal number of teeth HP:0006483
142 plantar crease between first and second toes HP:0008107
143 feeding difficulties in infancy HP:0008872
144 postnatal growth retardation HP:0008897
145 papillary cystadenoma of the epididymis HP:0009715
146 low hanging columella HP:0009765
147 duane anomaly HP:0009921
148 broad hallux HP:0010055
149 duplication of phalanx of hallux HP:0010066
150 premature thelarche HP:0010314
151 polydactyly HP:0010442
152 keloids HP:0010562
153 vascular ring HP:0010775
154 talon cusp HP:0011087
155 broad thumb HP:0011304
156 arrhythmia HP:0011675
157 impulsivity HP:0100710

Drugs & Therapeutics for Rubinstein-Taybi Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Valproic Acidapproved, investigationalPhase 230299-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-PROPYL-pentanoic acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Depakote ER
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaeure
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VALPROIC acid
VPA
Valcote
Valparin
Valproate
Valproate Semisodium
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic
Valproic Acid
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic TrialCompletedNCT01619644Phase 2
2Resistant Starch on Glycemic Response in Older AdultsCompletedNCT00676767

Search NIH Clinical Center for Rubinstein-Taybi Syndrome


Cochrane evidence based reviews: Rubinstein-Taybi Syndrome

Genetic Tests for Rubinstein-Taybi Syndrome

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Genetic tests related to Rubinstein-Taybi Syndrome:

id Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome22 24 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

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MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

33
Eye, Heart, Kidney, Brain, Bone, Testes, Skin

Animal Models for Rubinstein-Taybi Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rubinstein-Taybi Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.8CREBBP, EP300, GAS1, KIF7, LRP4, NIPBL
2MP:00053887.6CREB1, CREBBP, EP300, GAS1, KIF7, LRP4
3MP:00053717.5CREBBP, GAS1, IGFALS, KIF7, LRP4, NIPBL
4MP:00053807.5CREB1, CREBBP, EP300, GAS1, KIF7, LRP4
5MP:00053907.3CREB1, CREBBP, GAS1, IGFALS, KIF7, LRP4
6MP:00053857.2CREB1, CREBBP, EP300, GAS1, KIF7, NIPBL
7MP:00053787.1CREB1, CREBBP, EP300, GAS1, IGFALS, LRP4
8MP:00036316.3CREB1, CREBBP, EP300, GAS1, KIF7, LRP4

Publications for Rubinstein-Taybi Syndrome

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Articles related to Rubinstein-Taybi Syndrome:

(show top 50)    (show all 314)
idTitleAuthorsYear
1
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. (25599811)
2015
2
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. (25712426)
2015
3
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome. (26275701)
2015
4
Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review. (25675181)
2015
5
Keloids in Rubinstein-Taybi syndrome: a clinical study. (25132000)
2014
6
Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome. (24247805)
2013
7
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
2013
8
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome. (22591219)
2013
9
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome. (22426292)
2012
10
Rubinstein-taybi syndrome with psychosis. (23162199)
2012
11
Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case. (22244492)
2012
12
Anesthetic management of children with Rubinstein-Taybi syndrome--case reports. (22435286)
2011
13
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. (19350377)
2009
14
Lacrimal caruncle nevus associated with Rubinstein-Taybi syndrome. (18260291)
2007
15
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. (16783566)
2006
16
Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. (16913274)
2006
17
Anesthetic management of a child with Rubinstein-Taybi syndrome. (15200662)
2004
18
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (12566391)
2003
19
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. (12114483)
2002
20
General anaesthesia for a child with Rubinstein-Taybi syndrome. (12510910)
2002
21
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. (11805525)
2002
22
Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. (12072808)
2002
23
Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy. (10337678)
1999
24
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. (10573006)
1999
25
Two sisters with different chromosomal microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome. (9831356)
1998
26
Pediatric case of the day. Rubinstein-Taybi syndrome. (9397469)
1997
27
Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure. (9286447)
1997
28
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. (8825057)
1996
29
Multiple-marker screen positive results in Rubinstein-Taybi syndrome. (8938073)
1996
30
Anaesthesia in an infant with Rubinstein-Taybi syndrome. (7702143)
1995
31
Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. (7494163)
1995
32
Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report. (8170843)
1994
33
Rubinstein-Taybi syndrome: a history in pictures. (8298745)
1993
34
Apparent dominant transmission of the Rubinstein-Taybi syndrome. (8488872)
1993
35
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. (8430692)
1993
36
Congenital dislocation of the patella in Rubinstein Taybi syndrome. (8444597)
1993
37
Rubinstein-Taybi syndrome. (1598367)
1992
38
Aortic valve reconstruction in Rubinstein-Taybi-syndrome: the valuable aid of transesophageal echocardiography. (2055929)
1991
39
Retinal detachment with high myopia in the Rubinstein-Taybi syndrome. (1818231)
1991
40
Bibliography on Rubinstein-Taybi syndrome. (2118784)
1990
41
Rubinstein-Taybi syndrome: a follow-up study. (2118781)
1990
42
Rubinstein-Taybi syndrome in The Netherlands. (2118773)
1990
43
Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome. (2801779)
1989
44
Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome. (7368907)
1980
45
Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome. (286273)
1979
46
Behavioral characteristics of three children with the broad thumb-hallux (Rubinstein-Taybi) syndrome. (871491)
1977
47
Trisomy 13 and Rubinstein-Taybi syndrome. (1121015)
1975
48
The Rubinstein-Taybi syndrome. A clinical and muscle electron microscopic study. (4118155)
1972
49
Intraspinal neurilemoma in association with the Rubinstein-Taybi syndrome. (5100783)
1971
50
The Rubinstein-Taybi syndrome: a report of two cases. (5651233)
1968

Variations for Rubinstein-Taybi Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Rubinstein-Taybi Syndrome:

67 (show all 17)
id Symbol AA change Variation ID SNP ID
1CREBBPp.Arg1378ProVAR_015578
2CREBBPp.Glu1278LysVAR_035080
3CREBBPp.Thr1447IleVAR_035081
4CREBBPp.Tyr1450HisVAR_035082
5CREBBPp.His1470ArgVAR_035083
6CREBBPp.Arg1664HisVAR_035084
7CREBBPp.Tyr1175CysVAR_037305rs28937315
8CREBBPp.Tyr650PheVAR_072915
9CREBBPp.Ala789ThrVAR_072916
10CREBBPp.Thr910AlaVAR_072917
11CREBBPp.Glu1278AlaVAR_072918
12CREBBPp.Asp1406TyrVAR_072919
13CREBBPp.Gln1415ProVAR_072920
14CREBBPp.Pro1475ThrVAR_072921
15CREBBPp.Tyr1503PheVAR_072922
16CREBBPp.Leu1507ProVAR_072923
17CREBBPp.Asp1543AsnVAR_072924

Clinvar genetic disease variations for Rubinstein-Taybi Syndrome:

5 (show all 87)
id Gene Variation Type Significance SNP ID Assembly Location
1EP300EP300, 4-BP DEL, NT104deletionPathogenic
2CREBBPNM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter)single nucleotide variantPathogenicrs587783460GRCh37Chr 16, 3843540: 3843540
3CREBBPNM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter)single nucleotide variantPathogenicrs587783461GRCh37Chr 16, 3843447: 3843447
4CREBBPNM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter)single nucleotide variantPathogenicrs587783463GRCh37Chr 16, 3842055: 3842055
5CREBBPNM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter)single nucleotide variantPathogenicrs587783464GRCh37Chr 16, 3842042: 3842042
6CREBBPNM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs)deletionPathogenicrs587783465GRCh37Chr 16, 3831291: 3831291
7CREBBPNM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs)deletionPathogenicrs587783467GRCh37Chr 16, 3830735: 3830735
8CREBBPNM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs)deletionPathogenicrs587783469GRCh37Chr 16, 3828099: 3828099
9CREBBPNM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs)deletionPathogenicrs587783470GRCh37Chr 16, 3827649: 3827650
10CREBBPNM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter)single nucleotide variantPathogenicrs587783471GRCh37Chr 16, 3820916: 3820916
11CREBBPNM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs)deletionPathogenicrs587783473GRCh37Chr 16, 3820844: 3820845
12CREBBPNM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter)single nucleotide variantPathogenicrs587783475GRCh37Chr 16, 3820660: 3820660
13CREBBPNM_004380.2(CREBBP): c.286C> T (p.Gln96Ter)single nucleotide variantPathogenicrs587783476GRCh37Chr 16, 3900810: 3900810
14CREBBPNM_004380.2(CREBBP): c.299delG (p.Gly100Valfs)deletionPathogenicrs587783477GRCh37Chr 16, 3900797: 3900797
15CREBBPNM_004380.2(CREBBP): c.316C> T (p.Gln106Ter)single nucleotide variantPathogenicrs587783478GRCh37Chr 16, 3900780: 3900780
16CREBBPNM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter)single nucleotide variantPathogenicrs587783479GRCh37Chr 16, 3808914: 3808914
17CREBBPNM_004380.2(CREBBP): c.3369+1G> Tsingle nucleotide variantPathogenicrs587783480GRCh37Chr 16, 3808854: 3808854
18CREBBPNM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys)single nucleotide variantLikely pathogenicrs587783481GRCh37Chr 16, 3807919: 3807919
19CREBBPNM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter)single nucleotide variantPathogenicrs587783482GRCh37Chr 16, 3807374: 3807374
20CREBBPNM_004380.2(CREBBP): c.3779+1G> Asingle nucleotide variantPathogenicrs587783483GRCh37Chr 16, 3801726: 3801726
21CREBBPNM_004380.2(CREBBP): c.37A> G (p.Lys13Glu)single nucleotide variantLikely pathogenicrs587783484GRCh37Chr 16, 3929881: 3929881
22CREBBPNM_004380.2(CREBBP): c.3836+1G> Asingle nucleotide variantPathogenicrs200782888GRCh37Chr 16, 3799627: 3799627
23CREBBPNM_004380.2(CREBBP): c.3914+3G> Tsingle nucleotide variantLikely pathogenicrs587783485GRCh37Chr 16, 3795275: 3795275
24CREBBPNM_004380.2(CREBBP): c.3983-2A> Gsingle nucleotide variantPathogenicrs587783486GRCh37Chr 16, 3790552: 3790552
25CREBBPNM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro)single nucleotide variantLikely pathogenicrs587783488GRCh37Chr 16, 3790511: 3790511
26CREBBPNM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter)single nucleotide variantPathogenicrs587783489GRCh37Chr 16, 3790488: 3790488
27CREBBPNM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter)single nucleotide variantPathogenicrs587783490GRCh37Chr 16, 3790455: 3790455
28CREBBPNM_004380.2(CREBBP): c.4133+1G> Asingle nucleotide variantPathogenicrs587783491GRCh37Chr 16, 3790399: 3790399
29CREBBPNM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser)single nucleotide variantLikely pathogenicrs587783492GRCh37Chr 16, 3789633: 3789633
30CREBBPNM_004380.2(CREBBP): c.4281-11C> Gsingle nucleotide variantLikely pathogenicrs587783493GRCh37Chr 16, 3788684: 3788684
31CREBBPNM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly)single nucleotide variantLikely pathogenicrs587783494GRCh37Chr 16, 3788578: 3788578
32CREBBPNM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter)single nucleotide variantPathogenicrs147688139GRCh37Chr 16, 3786813: 3786813
33CREBBPNM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp)single nucleotide variantPathogenicrs587783495GRCh37Chr 16, 3786767: 3786767
34CREBBPNM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys)single nucleotide variantLikely pathogenicrs587783496GRCh37Chr 16, 3786766: 3786766
35CREBBPNM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys)single nucleotide variantPathogenicrs587783497GRCh37Chr 16, 3786703: 3786703
36CREBBPNM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs)deletionPathogenicrs587783499GRCh37Chr 16, 3786076: 3786076
37CREBBPNM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs)deletionPathogenicrs587783500GRCh37Chr 16, 3781875: 3781875
38CREBBPNM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro)single nucleotide variantLikely pathogenicrs587783503GRCh37Chr 16, 3781315: 3781315
39CREBBPNM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter)single nucleotide variantPathogenicrs587783505GRCh37Chr 16, 3779227: 3779227
40CREBBPNM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs)deletionPathogenicrs587783506GRCh37Chr 16, 3779204: 3779214
41CREBBPNM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs)deletionPathogenicrs587783507GRCh37Chr 16, 3779211: 3779211
42CREBBPNM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs)deletionPathogenicrs587783508GRCh37Chr 16, 3779179: 3779179
43CREBBPNM_004380.2(CREBBP): c.598C> T (p.Gln200Ter)single nucleotide variantPathogenicrs587783509GRCh37Chr 16, 3900498: 3900498
44CREBBPNM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter)single nucleotide variantPathogenicrs587783510GRCh37Chr 16, 3778960: 3778960
45CREBBPNM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del)deletionLikely pathogenicrs587783511GRCh37Chr 16, 3778877: 3778918
46CREBBPNM_004380.2(CREBBP): c.86-2A> Csingle nucleotide variantPathogenicrs587783515GRCh37Chr 16, 3901012: 3901012
47CREBBPNM_004380.2(CREBBP): c.953C> A (p.Ser318Ter)single nucleotide variantPathogenicrs587783516GRCh37Chr 16, 3860626: 3860626
48EP300NM_001429.3(EP300): c.4933C> T (p.Arg1645Ter)single nucleotide variantPathogenicrs139310551GRCh37Chr 22, 41572404: 41572404
49CREBBPNM_004380.2(CREBBP): c.2685delC (p.Gln897Argfs)deletionPathogenicrs794727124GRCh37Chr 16, 3820766: 3820766
50CREBBPNM_004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs)deletionPathogenicrs794727391GRCh38Chr 16, 3740539: 3740539
51EP300NM_001429.3(EP300): c.3573T> A (p.Tyr1191Ter)single nucleotide variantPathogenicrs565779970GRCh38Chr 22, 41158483: 41158483
52CREBBPNM_004380.2(CREBBP): c.5614A> G (p.Met1872Val)single nucleotide variantLikely pathogenicrs797045037GRCh38Chr 16, 3729433: 3729433
53CREBBPNM_004380.2(CREBBP): c.(?_-23)_85+?deldeletionPathogenicGRCh38Chr 16, 3879832: 3879939
54CREBBPNM_004380.2(CREBBP): c.2178dupC (p.Met727Hisfs)duplicationPathogenicrs797045483GRCh38Chr 16, 3774674: 3774674
55CREBBPNM_004380.2(CREBBP): c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs)indelPathogenicrs797045484GRCh38Chr 16, 3770760: 3770771
56CREBBPNM_004380.2(CREBBP): c.2810dupC (p.Ser938Valfs)duplicationPathogenicrs797045485GRCh38Chr 16, 3770640: 3770640
57CREBBPNM_004380.2(CREBBP): c.282dupC (p.Val95Argfs)duplicationPathogenicrs797045486GRCh38Chr 16, 3850813: 3850813
58CREBBPNM_004380.2(CREBBP): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs797045487GRCh37Chr 16, 3929916: 3929916
59CREBBPNM_004380.2(CREBBP): c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs)indelPathogenicrs797045488GRCh38Chr 16, 3767885: 3767893
60CREBBPNM_004380.2(CREBBP): c.3436C> T (p.Gln1146Ter)single nucleotide variantPathogenicrs797045489GRCh38Chr 16, 3757982: 3757982
61CREBBPNM_004380.2(CREBBP): c.3461dupT (p.Asp1155Glyfs)duplicationPathogenicrs797045490GRCh38Chr 16, 3757957: 3757957
62CREBBPNM_004380.2(CREBBP): c.348_349dupTG (p.Ala117Valfs)duplicationPathogenicrs797045491GRCh38Chr 16, 3850746: 3850747
63CREBBPNM_004380.2(CREBBP): c.3490G> C (p.Ala1164Pro)single nucleotide variantLikely pathogenicrs797045492GRCh37Chr 16, 3807929: 3807929
64CREBBPNM_004380.2(CREBBP): c.4281G> T (p.Arg1427Ser)single nucleotide variantLikely pathogenicrs797045494GRCh38Chr 16, 3738672: 3738672
65CREBBPNM_004380.2(CREBBP): c.5027G> A (p.Trp1676Ter)single nucleotide variantPathogenicrs797045495GRCh38Chr 16, 3731337: 3731337
66CREBBPNM_004380.2(CREBBP): c.5412C> A (p.His1804Gln)single nucleotide variantLikely pathogenicrs797045496GRCh37Chr 16, 3779636: 3779636
67CREBBPNM_004380.2(CREBBP): c.5837dupC (p.Pro1947Thrfs)duplicationPathogenicrs797045497GRCh37Chr 16, 3779211: 3779211
68CREBBPNM_004380.2(CREBBP): c.5936_5937insT (p.Ser1980Glnfs)insertionPathogenicrs797045498GRCh38Chr 16, 3729110: 3729111
69CREBBPNM_004380.2(CREBBP): c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs)deletionPathogenicrs797045499GRCh38Chr 16, 3728931: 3728940
70CREBBPNM_004380.2(CREBBP): c.6395_6417dup23 (p.Gln2140Alafs)duplicationPathogenicrs797045500GRCh38Chr 16, 3728630: 3728652
71CREBBPNM_004380.2(CREBBP): c.827_828dupTT (p.Gly277Leufs)duplicationPathogenicrs797045502GRCh37Chr 16, 3860751: 3860752
72CREBBPNM_004380.2(CREBBP): c.86-1G> Tsingle nucleotide variantPathogenicrs11644721GRCh37Chr 16, 3901011: 3901011
73EP300NM_001429.3(EP300): c.4836dupT (p.Val1613Cysfs)duplicationPathogenicrs797045559GRCh38Chr 22, 41176303: 41176303
74EP300NM_001429.3(EP300): c.6915_6918delTCAA (p.Asn2305Lysfs)deletionPathogenicrs797045560GRCh38Chr 22, 41178626: 41178629
75EP300EP300, 1-BP DEL, 638GdeletionPathogenic
76EP300NM_001429.3(EP300): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs137853039GRCh37Chr 22, 41537115: 41537115
77EP300EP300, 8-BP DEL, NT2877deletionPathogenic
78EP300EP300, EX1DELdeletionPathogenic
79EP300EP300, 1-BP DEL, 7100CdeletionPathogenic
80EP300EP300, EX3-8DELdeletionPathogenic
81CREBBPNM_004380.2(CREBBP): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121434624GRCh37Chr 16, 3900690: 3900690
82CREBBPNM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter)single nucleotide variantPathogenicrs121434625GRCh37Chr 16, 3843534: 3843534
83CREBBPNM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro)single nucleotide variantPathogenicrs121434626GRCh37Chr 16, 3790400: 3790400
84CREBBPCREBBP, 2-BP DEL, NT5222deletionPathogenic
85CREBBPNM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys)single nucleotide variantPathogenicrs28937315GRCh37Chr 16, 3807895: 3807895
86CREBBPNM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys)single nucleotide variantPathogenicrs267606752GRCh37Chr 16, 3799632: 3799632
87CREBBPCREBBP, IVS21, A-T, -2single nucleotide variantPathogenic

Expression for genes affiliated with Rubinstein-Taybi Syndrome

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Search GEO for disease gene expression data for Rubinstein-Taybi Syndrome.

Pathways for genes affiliated with Rubinstein-Taybi Syndrome

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Pathways related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CREBBP, EP300
29.8CREB1, CREBBP, EP300
39.8CREB1, CREBBP, EP300
49.8CREB1, CREBBP, EP300
59.8CREB1, CREBBP, EP300
69.8CREB1, CREBBP, EP300
7
Show member pathways
9.8CREB1, CREBBP, EP300
89.8CREB1, CREBBP, EP300
99.7CREBBP, EP300, GAS1
109.5ADCY9, CREB1, CREBBP, EP300
119.4ADCY9, CREB1, PDE4A
12
Show member pathways
9.3CREBBP, GAS1, PTCH1
13
Show member pathways
8.9ADCY9, CREB1, CREBBP, EP300, PTCH1
14
Show member pathways
8.8ADCY9, CREB1, CREBBP, EP300, GAS1, SLC9A6
15
Show member pathways
8.6ADCY9, CREB1, CREBBP, EP300, GAS1, PTCH1
16
Show member pathways
8.4ADCY9, GAS1, KIF7, PTCH1
17
Show member pathways
8.4ADCY9, CREB1, CREBBP, EP300, PDE4A, PTCH1

GO Terms for genes affiliated with Rubinstein-Taybi Syndrome

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Cellular components related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase complexGO:000012310.1CREBBP, EP300
2chromatinGO:00007859.5CREB1, EP300, NIPBL

Biological processes related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1N-terminal peptidyl-lysine acetylationGO:001807610.7CREBBP, EP300
2protein acetylationGO:000647310.7CREBBP, EP300
3histone acetylationGO:001657310.1CREBBP, EP300, SRCAP
4regulation of smoothened signaling pathwayGO:00085899.8CREBBP, GAS1, PTCH1
5negative regulation of smoothened signaling pathwayGO:00458799.6KIF7, PTCH1
6signal transductionGO:00071657.8ADCY9, CREB1, CREBBP, IGFALS, OPN1LW, PDE4A

Molecular functions related to Rubinstein-Taybi Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetyltransferase activityGO:001640710.4CREBBP, EP300
2peroxisome proliferator activated receptor bindingGO:004297510.4CREBBP, EP300
3activating transcription factor bindingGO:003361310.0CREBBP, EP300
4RNA polymerase II activating transcription factor bindingGO:000110210.0CREB1, CREBBP, EP300
5transcription cofactor activityGO:00037129.8CREB1, CREBBP, EP300
6histone acetyltransferase activityGO:00044029.4CREBBP, EP300, SRCAP

Sources for Rubinstein-Taybi 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