MCID: RBN001
MIFTS: 65

Rubinstein-Taybi Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Mental diseases, Smell/Taste diseases

Aliases & Classifications for Rubinstein-Taybi Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Rubinstein-Taybi Syndrome:

Name: Rubinstein-Taybi Syndrome 51 11 70 23 47 24 25 53 26 12 49 38 13 67
Broad Thumb-Hallux Syndrome 11 70 47 25 53 69
Rubinstein Syndrome 11 47 69
Rsts 70 47 25
Broad Thumbs-Hallux Syndrome 23 24
Rubinstein-Taybi Syndrome 1 51 69
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 47
 
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 69
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 53
Chromosome 16p13.3 Deletion Syndrome, Proximal 67
Proximal Chromosome 16p13.3 Deletion Syndrome 11
Broad Thumbs-Halluces Syndrome 53
Rsts1 69
Rts 25

Characteristics:

Orphanet epidemiological data:

53
rubinstein-taybi syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age

HPO:

63
rubinstein-taybi syndrome:
Inheritance: autosomal dominant inheritance, heterogeneous, sporadic
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 180849
Disease Ontology11 DOID:1933
ICD1029 Q87.2
MeSH38 D012415
NCIt44 C75466
SNOMED-CT61 157032007, 45582004
UMLS via Orphanet68 C0035934
MESH via Orphanet39 D012415
ICD10 via Orphanet30 Q87.2
MedGen36 C0035934

Summaries for Rubinstein-Taybi Syndrome

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OMIM:51 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 ep300-related rubinstein-taybi syndrome, 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 Transcription_CREM signaling in testis. Affiliated tissues include eye, heart and kidney, and related mouse phenotypes are respiratory system and embryo.

Disease Ontology:11 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:25 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:47 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 very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some affected people, the cause is unknown. While Rubinstein-Taybi syndrome can be inherited in an autosomal dominant manner, most cases result from a new (de novo) mutation in the responsible gene and are not inherited from a parent. Treatment is symptomatic and supportive. Last updated: 1/14/2016

UniProtKB/Swiss-Prot:69 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:70 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...

GeneReviews for NBK1526

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

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1rubinstein-taybi syndrome 212.5
2ep300-related rubinstein-taybi syndrome12.3
3crebbp-related rubinstein-taybi syndrome12.1
4rothmund-thomson syndrome11.7
5atypical teratoid rhabdoid tumor11.7
6colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas11.2
7floating-harbor syndrome11.2
8coffin-lowry syndrome11.2
9chromosome 16p13.3 deletion syndrome, proximal11.1
10rett syndrome10.9
11rhabdoid tumors, somatic10.8
12keloids10.4
13narcolepsy 410.3EP300, MIR1281
14childhood multilocular cystic kidney neoplasm10.3CREBBP, EP300
15cervicitis10.2
16breast cancer10.2
17generalized epilepsy with febrile seizures plus, type 910.2CREBBP, SRCAP
18scoliosis10.2
19parainfluenza virus type 310.1CREB1, CREBBP, EP300
20human t-cell leukemia virus type 310.1CREB1, CREBBP, EP300
21neuroblastoma10.1
22medulloblastoma10.1
23congenital hypothyroidism10.1
24sleep apnea10.1
25obstructive sleep apnea10.1
26hypothyroidism10.1
27thyroiditis10.1
28chiari malformation10.1
29slipped capital femoral epiphysis10.1
30pheochromocytoma9.9
31anterior segment mesenchymal dysgenesis9.9
32smith-lemli-opitz syndrome9.9
33gastroesophageal reflux9.9
34piebaldism9.9
35tricuspid atresia9.9
36pulmonary hypertension9.9
37acute leukemia9.9
38follicular lymphoma9.9
39hemangioma9.9
40hepatitis9.9
41leukemia9.9
42spondylolisthesis9.9
43brachydactyly9.9
44lymphoma9.9
45nasopharyngitis9.9
46imperforate anus9.9
47meningoencephalitis9.9
48juvenile glaucoma9.9
49microcephaly9.9
50megacolon9.9

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

Human phenotypes related to Rubinstein-Taybi Syndrome:

 63 53 (show all 145)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate63 hallmark (90%) HP:0000174
2 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
3 convex nasal ridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000444
4 downslanted palpebral fissures63 53 hallmark (90%) Very frequent (99-80%) HP:0000494
5 telecanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000506
6 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
7 joint hypermobility63 hallmark (90%) HP:0001382
8 preaxial foot polydactyly63 hallmark (90%) HP:0001841
9 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
10 abnormality of thumb phalanx63 hallmark (90%) HP:0009602
11 cognitive impairment63 hallmark (90%) HP:0100543
12 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
13 microcephaly63 53 typical (50%) Frequent (79-30%) HP:0000252
14 epicanthus63 53 typical (50%) Frequent (79-30%) HP:0000286
15 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
16 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
17 wide nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0000431
18 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
19 glaucoma63 53 typical (50%) Frequent (79-30%) HP:0000501
20 lacrimation abnormality63 typical (50%) HP:0000632
21 carious teeth63 53 typical (50%) Frequent (79-30%) HP:0000670
22 hypertrichosis63 typical (50%) HP:0000998
23 constipation63 53 typical (50%) Frequent (79-30%) HP:0002019
24 respiratory insufficiency63 53 typical (50%) Frequent (79-30%) HP:0002093
25 highly arched eyebrow63 53 typical (50%) Frequent (79-30%) HP:0002553
26 clinodactyly of the 5th finger63 53 typical (50%) Frequent (79-30%) HP:0004209
27 attention deficit hyperactivity disorder63 53 typical (50%) Frequent (79-30%) HP:0007018
28 abnormality of the distal phalanx of finger63 53 typical (50%) Frequent (79-30%) HP:0009832
29 clubbing of toes63 53 typical (50%) Frequent (79-30%) HP:0100760
30 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
31 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
32 atypical scarring of skin63 53 occasional (7.5%) Occasional (29-5%) HP:0000987
33 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
34 polyhydramnios63 53 occasional (7.5%) Occasional (29-5%) HP:0001561
35 abnormality of the hip bone63 occasional (7.5%) HP:0003272
36 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
37 hypospadias63 HP:0000047
38 shawl scrotum63 HP:0000049
39 abnormality of the kidney63 HP:0000077
40 bifid uterus63 HP:0000136
41 narrow mouth63 HP:0000160
42 narrow palate63 HP:0000189
43 high palate63 53 Very frequent (99-80%) HP:0000218
44 wide anterior fontanel63 HP:0000260
45 delayed cranial suture closure63 HP:0000270
46 facial grimacing63 HP:0000273
47 retrognathia63 HP:0000278
48 low anterior hairline63 HP:0000294
49 hypoplasia of the maxilla63 HP:0000327
50 low-set ears63 53 Very frequent (99-80%) HP:0000369
51 abnormality of the pinna63 HP:0000377
52 abnormality of the cornea63 HP:0000481
53 deeply set eye63 HP:0000490
54 cataract63 HP:0000518
55 proptosis63 HP:0000520
56 long eyelashes63 HP:0000527
57 abnormality of refraction63 HP:0000539
58 thick eyebrow63 HP:0000574
59 nasolacrimal duct obstruction63 53 Frequent (79-30%) HP:0000579
60 coloboma63 HP:0000589
61 dental crowding63 HP:0000678
62 dental malocclusion63 HP:0000689
63 autism63 HP:0000717
64 stereotypy63 HP:0000733
65 short attention span63 HP:0000736
66 self-mutilation63 HP:0000742
67 delayed speech and language development63 HP:0000750
68 hyperactivity63 HP:0000752
69 agoraphobia63 HP:0000756
70 pectus excavatum63 HP:0000767
71 single transverse palmar crease63 HP:0000954
72 cafe-au-lait spot63 HP:0000957
73 hirsutism63 HP:0001007
74 high axial triradius63 HP:0001042
75 chorioretinal dystrophy63 HP:0001135
76 syndactyly63 HP:0001159
77 prominent fingertip pads63 HP:0001212
78 intellectual disability63 53 Very frequent (99-80%) HP:0001249
79 muscular hypotonia63 HP:0001252
80 agenesis of corpus callosum63 HP:0001274
81 bimanual synkinesia63 HP:0001335
82 hyperreflexia63 HP:0001347
83 flexion contracture63 HP:0001371
84 joint laxity63 HP:0001388
85 failure to thrive63 HP:0001508
86 laryngomalacia63 HP:0001601
87 ventricular septal defect63 HP:0001629
88 atria septal defect63 HP:0001631
89 patent ductus arteriosus63 HP:0001643
90 pes planus63 HP:0001763
91 truncal obesity63 HP:0001956
92 frontal bossing63 HP:0002007
93 tethered cord63 HP:0002144
94 low posterior hairline63 HP:0002162
95 phonophobia63 HP:0002183
96 frontal upsweep of hair63 HP:0002236
97 aganglionic megacolon63 HP:0002251
98 unsteady gait63 HP:0002317
99 eeg abnormality63 HP:0002353
100 poor coordination63 HP:0002370
101 scoliosis63 HP:0002650
102 parietal foramina63 HP:0002697
103 large foramen magnum63 HP:0002700
104 delayed skeletal maturation63 HP:0002750
105 recurrent upper respiratory tract infections63 HP:0002788
106 hypoplastic iliac wing63 HP:0002866
107 flared iliac wings63 HP:0002869
108 obstructive sleep apnea63 HP:0002870
109 respiratory difficulties63 HP:0002880
110 patellar dislocation63 HP:0002999
111 dislocated radial head63 HP:0003083
112 spina bifida occulta63 HP:0003298
113 abnormality of the cervical spine63 HP:0003319
114 deviated nasal septum63 HP:0004411
115 capillary hemangiomas63 53 Occasional (29-5%) HP:0005306
116 avascular necrosis of the capital femoral epiphysis63 HP:0005743
117 radial deviation of thumb terminal phalanx63 HP:0005895
118 hypoplasia of dental enamel63 HP:0006297
119 abnormal number of teeth63 HP:0006483
120 plantar crease between first and second toes63 HP:0008107
121 feeding difficulties in infancy63 53 Very frequent (99-80%) HP:0008872
122 postnatal growth retardation63 HP:0008897
123 papillary cystadenoma of the epididymis63 HP:0009715
124 low hanging columella63 HP:0009765
125 duane anomaly63 HP:0009921
126 broad hallux63 HP:0010055
127 duplication of phalanx of hallux63 HP:0010066
128 premature thelarche63 HP:0010314
129 polydactyly63 HP:0010442
130 keloids63 53 Occasional (29-5%) HP:0010562
131 vascular ring63 HP:0010775
132 talon cusp63 HP:0011087
133 broad thumb63 53 Very frequent (99-80%) HP:0011304
134 arrhythmia63 HP:0011675
135 impulsivity63 HP:0100710
136 abnormality of the teeth53 Frequent (79-30%)
137 irritability53 Frequent (79-30%)
138 anxiety53 Frequent (79-30%)
139 global developmental delay53 Very frequent (99-80%)
140 hip dysplasia53 Occasional (29-5%)
141 failure to thrive in infancy53 Very frequent (99-80%)
142 generalized hirsutism53 Frequent (79-30%)
143 malformation of the heart and great vessels53 Frequent (79-30%)
144 joint hyperflexibility53 Very frequent (99-80%)
145 broad hallux phalanx53 Very frequent (99-80%)

UMLS symptoms related to Rubinstein-Taybi Syndrome:


constipation, seizures

Drugs & Therapeutics for Rubinstein-Taybi Syndrome

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Valproic Acidapproved, investigationalPhase 232299-66-13121
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-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-propyl-pentanoic 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)
Deproic
Di-N-propylacetic acid
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
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
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
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
2Psychotropic DrugsPhase 26279
3Tranquilizing AgentsPhase 24164
4Neurotransmitter AgentsPhase 217734
5Histone Deacetylase InhibitorsPhase 2566
6Antimanic AgentsPhase 2790
7Central Nervous System DepressantsPhase 212806
8GABA AgentsPhase 21622
9AnticonvulsantsPhase 22620

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 Syndrome26 24 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

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MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

35
Eye, Heart, Kidney, Brain, Bone, Uterus, Skin

Animal Models for Rubinstein-Taybi Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rubinstein-Taybi Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2CREB1, CREBBP, EP300, GAS1, LRP4, MECP2
2MP:00053808.1CREB1, CREBBP, EP300, GAS1, LRP4, MECP2

Publications for Rubinstein-Taybi Syndrome

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Articles related to Rubinstein-Taybi Syndrome:

(show top 50)    (show all 337)
idTitleAuthorsYear
1
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. (27342041)
2016
2
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. (27648933)
2016
3
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. (27964710)
2016
4
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. (27011324)
2016
5
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. (25599811)
2015
6
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. (25712426)
2015
7
Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome. (25861312)
2015
8
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report. (25596810)
2015
9
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
10
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
2013
11
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome. (22591219)
2013
12
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome. (23315884)
2013
13
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome. (22426292)
2012
14
Rubinstein-taybi syndrome with psychosis. (23162199)
2012
15
Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case. (22244492)
2012
16
Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. (17318847)
2007
17
Eosinophilic esophagitis and gastritis in Rubinstein-Taybi syndrome. (17414149)
2007
18
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. (16783566)
2006
19
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. (15706485)
2005
20
Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. (15207239)
2004
21
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (12566391)
2003
22
A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. (12930888)
2003
23
Anaesthesia in an adult with Rubinstein-Taybi syndrome. (12594162)
2003
24
General anaesthesia for a child with Rubinstein-Taybi syndrome. (12510910)
2002
25
Stenosis of the lachrymal system in Rubinstein-Taybi syndrome. (12207132)
2002
26
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. (10699051)
2000
27
Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy. (10337678)
1999
28
Two sisters with different chromosomal microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome. (9831356)
1998
29
Congenital glaucoma associated with Rubinstein-Taybi syndrome. (9541447)
1998
30
Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure. (9286447)
1997
31
Multiple-marker screen positive results in Rubinstein-Taybi syndrome. (8938073)
1996
32
Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report. (8170843)
1994
33
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. (8430692)
1993
34
Congenital dislocation of the patella in Rubinstein Taybi syndrome. (8444597)
1993
35
Rubinstein-Taybi syndrome. (1598367)
1992
36
Rubinstein-Taybi syndrome and pheochromocytoma. (1488992)
1992
37
Aortic valve reconstruction in Rubinstein-Taybi-syndrome: the valuable aid of transesophageal echocardiography. (2055929)
1991
38
Retinal detachment with high myopia in the Rubinstein-Taybi syndrome. (1818231)
1991
39
Bibliography on Rubinstein-Taybi syndrome. (2118784)
1990
40
Rubinstein-Taybi syndrome. (2210832)
1990
41
Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome. (2801779)
1989
42
Succinylcholine in Rubinstein-Taybi syndrome. (7137629)
1982
43
Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome. (7368907)
1980
44
Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome. (286273)
1979
45
A case of Rubinstein--Taybi syndrome. Notes on some unusual manifestations, and an evaluation by Rubinstein. (954333)
1976
46
Trisomy 13 and Rubinstein-Taybi syndrome. (1121015)
1975
47
The Rubinstein-Taybi syndrome. A clinical and muscle electron microscopic study. (4118155)
1972
48
The Rubinstein-Taybi Syndrome. Report of five cases. Investigations have revealed no genetic pattern, chromosonal abnormality, metabolic defect, or prenatal insult. (5279728)
1971
49
The Rubinstein-Taybi syndrome. (5642988)
1968
50
Rubinstein-Taybi syndrome. The first case in an African child and the first case recognized at birth. (4970066)
1968

Variations for Rubinstein-Taybi Syndrome

About this section

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

69 (show all 17)
id Symbol AA change Variation ID SNP ID
1CREBBPp.Arg1378ProVAR_015578rs121434626
2CREBBPp.Glu1278LysVAR_035080rs267606752
3CREBBPp.Thr1447IleVAR_035081
4CREBBPp.Tyr1450HisVAR_035082
5CREBBPp.His1470ArgVAR_035083rs797044860
6CREBBPp.Arg1664HisVAR_035084
7CREBBPp.Tyr1175CysVAR_037305rs28937315
8CREBBPp.Tyr650PheVAR_072915
9CREBBPp.Ala789ThrVAR_072916rs746728741
10CREBBPp.Thr910AlaVAR_072917rs143247685
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 77)
id Gene Variation Type Significance SNP ID Assembly Location
1CREBBPNM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter)SNVPathogenicrs587783460GRCh37Chr 16, 3843540: 3843540
2CREBBPNM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter)SNVPathogenicrs587783461GRCh37Chr 16, 3843447: 3843447
3CREBBPNM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter)SNVPathogenicrs587783463GRCh37Chr 16, 3842055: 3842055
4CREBBPNM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter)SNVPathogenicrs587783464GRCh37Chr 16, 3842042: 3842042
5CREBBPNM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs)deletionPathogenicrs587783465GRCh37Chr 16, 3831291: 3831291
6CREBBPNM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs)deletionPathogenicrs587783467GRCh37Chr 16, 3830735: 3830735
7CREBBPNM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs)deletionPathogenicrs587783469GRCh38Chr 16, 3778098: 3778098
8CREBBPNM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs)deletionPathogenicrs587783470GRCh38Chr 16, 3777648: 3777649
9CREBBPNM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter)SNVPathogenicrs587783471GRCh38Chr 16, 3770915: 3770915
10CREBBPNM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs)deletionPathogenicrs587783473GRCh37Chr 16, 3820844: 3820845
11CREBBPNM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter)SNVPathogenicrs587783475GRCh37Chr 16, 3820660: 3820660
12CREBBPNM_004380.2(CREBBP): c.286C> T (p.Gln96Ter)SNVPathogenicrs587783476GRCh38Chr 16, 3850809: 3850809
13CREBBPNM_004380.2(CREBBP): c.299delG (p.Gly100Valfs)deletionPathogenicrs587783477GRCh37Chr 16, 3900797: 3900797
14CREBBPNM_004380.2(CREBBP): c.316C> T (p.Gln106Ter)SNVPathogenicrs587783478GRCh37Chr 16, 3900780: 3900780
15CREBBPNM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter)SNVPathogenicrs587783479GRCh37Chr 16, 3808914: 3808914
16CREBBPNM_004380.2(CREBBP): c.3369+1G> TSNVPathogenicrs587783480GRCh37Chr 16, 3808854: 3808854
17CREBBPNM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys)SNVLikely pathogenicrs587783481GRCh37Chr 16, 3807919: 3807919
18CREBBPNM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter)SNVPathogenicrs587783482GRCh37Chr 16, 3807374: 3807374
19CREBBPNM_004380.2(CREBBP): c.3779+1G> ASNVPathogenicrs587783483GRCh37Chr 16, 3801726: 3801726
20CREBBPNM_004380.2(CREBBP): c.37A> G (p.Lys13Glu)SNVLikely pathogenicrs587783484GRCh38Chr 16, 3879880: 3879880
21CREBBPNM_004380.2(CREBBP): c.3836+1G> ASNVPathogenicrs200782888GRCh38Chr 16, 3749626: 3749626
22CREBBPNM_004380.2(CREBBP): c.3914+3G> TSNVLikely pathogenicrs587783485GRCh38Chr 16, 3745274: 3745274
23CREBBPNM_004380.2(CREBBP): c.3983-2A> GSNVPathogenicrs587783486GRCh37Chr 16, 3790552: 3790552
24CREBBPNM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro)SNVLikely pathogenicrs587783488GRCh38Chr 16, 3740510: 3740510
25CREBBPNM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter)SNVPathogenicrs587783489GRCh38Chr 16, 3740487: 3740487
26CREBBPNM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter)SNVPathogenicrs587783490GRCh38Chr 16, 3740454: 3740454
27CREBBPNM_004380.2(CREBBP): c.4133+1G> ASNVPathogenicrs587783491GRCh37Chr 16, 3790399: 3790399
28CREBBPNM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser)SNVLikely pathogenicrs587783492GRCh38Chr 16, 3739632: 3739632
29CREBBPNM_004380.2(CREBBP): c.4281-11C> GSNVLikely pathogenicrs587783493GRCh38Chr 16, 3738683: 3738683
30CREBBPNM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly)SNVLikely pathogenicrs587783494GRCh37Chr 16, 3788578: 3788578
31CREBBPNM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter)SNVPathogenicrs147688139GRCh37Chr 16, 3786813: 3786813
32CREBBPNM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp)SNVPathogenicrs587783495GRCh37Chr 16, 3786767: 3786767
33CREBBPNM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys)SNVLikely pathogenicrs587783496GRCh37Chr 16, 3786766: 3786766
34CREBBPNM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys)SNVPathogenicrs587783497GRCh38Chr 16, 3736702: 3736702
35CREBBPNM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs)deletionPathogenicrs587783499GRCh37Chr 16, 3786076: 3786076
36CREBBPNM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs)deletionPathogenicrs587783500GRCh38Chr 16, 3731874: 3731874
37CREBBPNM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro)SNVLikely pathogenicrs587783503GRCh38Chr 16, 3731314: 3731314
38CREBBPNM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter)SNVPathogenicrs587783505GRCh38Chr 16, 3729226: 3729226
39CREBBPNM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs)deletionPathogenicrs587783506GRCh37Chr 16, 3779204: 3779214
40CREBBPNM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs)deletionPathogenicrs587783507GRCh37Chr 16, 3779211: 3779211
41CREBBPNM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs)deletionPathogenicrs587783508GRCh37Chr 16, 3779179: 3779179
42CREBBPNM_004380.2(CREBBP): c.598C> T (p.Gln200Ter)SNVPathogenicrs587783509GRCh37Chr 16, 3900498: 3900498
43CREBBPNM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter)SNVPathogenicrs587783510GRCh37Chr 16, 3778960: 3778960
44CREBBPNM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del)deletionLikely pathogenicrs587783511GRCh38Chr 16, 3728876: 3728917
45CREBBPNM_004380.2(CREBBP): c.86-2A> CSNVPathogenicrs587783515GRCh38Chr 16, 3851011: 3851011
46CREBBPNM_004380.2(CREBBP): c.953C> A (p.Ser318Ter)SNVPathogenicrs587783516GRCh37Chr 16, 3860626: 3860626
47CREBBPNM_004380.2(CREBBP): c.2685delC (p.Gln897Argfs)deletionPathogenicrs794727124GRCh37Chr 16, 3820766: 3820766
48CREBBPNM_004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs)deletionPathogenicrs794727391GRCh38Chr 16, 3740539: 3740539
49CREBBPNM_004380.2(CREBBP): c.5614A> G (p.Met1872Val)SNVLikely pathogenicrs797045037GRCh37Chr 16, 3779434: 3779434
50CREBBPNM_004380.2(CREBBP): c.(?_-23)_85+?deldeletionPathogenicGRCh37Chr 16, 3929833: 3929940
51CREBBPNM_004380.2(CREBBP): c.2178dupC (p.Met727Hisfs)duplicationPathogenicrs797045483GRCh38Chr 16, 3774674: 3774674
52CREBBPNM_004380.2(CREBBP): c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs)indelPathogenicrs797045484GRCh38Chr 16, 3770760: 3770771
53CREBBPNM_004380.2(CREBBP): c.2810dupC (p.Ser938Valfs)duplicationPathogenicrs797045485GRCh37Chr 16, 3820641: 3820641
54CREBBPNM_004380.2(CREBBP): c.282dupC (p.Val95Argfs)duplicationPathogenicrs797045486GRCh37Chr 16, 3900814: 3900814
55CREBBPNM_004380.2(CREBBP): c.2T> A (p.Met1Lys)SNVPathogenicrs797045487GRCh38Chr 16, 3879915: 3879915
56CREBBPNM_004380.2(CREBBP): c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs)indelPathogenicrs797045488GRCh37Chr 16, 3817886: 3817894
57CREBBPNM_004380.2(CREBBP): c.3436C> T (p.Gln1146Ter)SNVPathogenicrs797045489GRCh37Chr 16, 3807983: 3807983
58CREBBPNM_004380.2(CREBBP): c.3461dupT (p.Asp1155Glyfs)duplicationPathogenicrs797045490GRCh38Chr 16, 3757957: 3757957
59CREBBPNM_004380.2(CREBBP): c.348_349dupTG (p.Ala117Valfs)duplicationPathogenicrs797045491GRCh38Chr 16, 3850746: 3850747
60CREBBPNM_004380.2(CREBBP): c.3490G> C (p.Ala1164Pro)SNVLikely pathogenicrs797045492GRCh38Chr 16, 3757928: 3757928
61CREBBPNM_004380.2(CREBBP): c.4281G> T (p.Arg1427Ser)SNVLikely pathogenicrs797045494GRCh38Chr 16, 3738672: 3738672
62CREBBPNM_004380.2(CREBBP): c.5027G> A (p.Trp1676Ter)SNVPathogenicrs797045495GRCh38Chr 16, 3731337: 3731337
63CREBBPNM_004380.2(CREBBP): c.5412C> A (p.His1804Gln)SNVLikely pathogenicrs797045496GRCh38Chr 16, 3729635: 3729635
64CREBBPNM_004380.2(CREBBP): c.5837dupC (p.Pro1947Thrfs)duplicationPathogenicrs797045497GRCh38Chr 16, 3729210: 3729210
65CREBBPNM_004380.2(CREBBP): c.5936_5937insT (p.Ser1980Glnfs)insertionPathogenicrs797045498GRCh38Chr 16, 3729110: 3729111
66CREBBPNM_004380.2(CREBBP): c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs)deletionPathogenicrs797045499GRCh38Chr 16, 3728931: 3728940
67CREBBPNM_004380.2(CREBBP): c.6395_6417dup23 (p.Gln2140Alafs)duplicationPathogenicrs797045500GRCh38Chr 16, 3728630: 3728652
68CREBBPNM_004380.2(CREBBP): c.827_828dupTT (p.Gly277Leufs)duplicationPathogenicrs797045502GRCh38Chr 16, 3810750: 3810751
69CREBBPNM_004380.2(CREBBP): c.86-1G> TSNVPathogenicrs11644721GRCh38Chr 16, 3851010: 3851010
70CREBBPNM_004380.2(CREBBP): c.4134-1G> TSNVLikely pathogenicrs886041048GRCh38Chr 16, 3739725: 3739725
71CREBBPNM_004380.2(CREBBP): c.406C> T (p.Gln136Ter)SNVPathogenicrs121434624GRCh37Chr 16, 3900690: 3900690
72CREBBPNM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter)SNVPathogenicrs121434625GRCh37Chr 16, 3843534: 3843534
73CREBBPNM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro)SNVPathogenicrs121434626GRCh37Chr 16, 3790400: 3790400
74CREBBPCREBBP, 2-BP DEL, NT5222deletionPathogenicChr na, -1: -1
75CREBBPNM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys)SNVPathogenicrs28937315GRCh37Chr 16, 3807895: 3807895
76CREBBPNM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys)SNVPathogenicrs267606752GRCh37Chr 16, 3799632: 3799632
77CREBBPCREBBP, IVS21, A-T, -2SNVPathogenicChr na, -1: -1

Copy number variations for Rubinstein-Taybi Syndrome from CNVD:

6 (show all 14)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1138091616300000Copy numberCREBBPRubinstein-Taybi syndrome
2973371616300000Copy numberCREBBPRubinstein-Taybi syndrome
3973381616300000Copy numberCREBBPRubinstein-Taybi syndrome
4973431616300000DeletionCREB-bindingRubinstein-Taybi syndrome
5973441616300000DeletiongeneRubinstein-Taybi syndrome
6973451616300000DeletionproteinRubinstein-Taybi syndrome
7973611616300000MicrodeletionRubinstein-Taybi syndrome
8973621616300000MicrodeletionRubinstein-Taybi syndrome
91014121636510833771464MicrodeletionCrebbpRubinstein-Taybi syndrome
101014131636510833771464MicrodeletionTrap1Rubinstein-Taybi syndrome
111014331637150563870122Copy numberCREBBPRubinstein-Taybi syndrome
121014521637263273728439DeletionCREBBPRubinstein-Taybi syndrome
13164836223989291339898247DeletionEP300Rubinstein-Taybi syndrome
1422242871520000019500000MicrodeletionRubinstein-Taybi syndrome

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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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:00001239.9CREBBP, EP300, MIR1281
2nuclear chromatinGO:00007909.4CREB1, CREBBP, MECP2
3transcription factor complexGO:00056679.3CREB1, CREBBP, EP300, MIR1281

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1histone H2B acetylationGO:004396910.6EP300, MIR1281
2regulation of tubulin deacetylationGO:009004310.6EP300, MIR1281
3internal protein amino acid acetylationGO:000647510.5EP300, MIR1281
4internal peptidyl-lysine acetylationGO:001839310.5EP300, MIR1281
5megakaryocyte developmentGO:003585510.5EP300, MIR1281
6positive regulation by host of viral transcriptionGO:004392310.5EP300, MIR1281
7platelet formationGO:003022010.4EP300, MIR1281
8positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein responseGO:000699010.4EP300, MIR1281
9intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.3EP300, MIR1281
10regulation of androgen receptor signaling pathwayGO:006076510.3EP300, MIR1281
11regulation of smoothened signaling pathwayGO:000858910.2CREBBP, GAS1
12histone H4 acetylationGO:004396710.2EP300, MIR1281
13cellular response to UVGO:003464410.1CREBBP, EP300, MIR1281
14stimulatory C-type lectin receptor signaling pathwayGO:000222310.1CREBBP, EP300, MIR1281
15protein acetylationGO:000647310.1CREBBP, EP300, MIR1281
16N-terminal peptidyl-lysine acetylationGO:001807610.1CREBBP, EP300, MIR1281
17regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141810.1CREBBP, EP300, MIR1281
18beta-catenin-TCF complex assemblyGO:190483710.1CREBBP, EP300, MIR1281
19circadian rhythmGO:000762310.0CREB1, EP300, MIR1281
20positive regulation of type I interferon productionGO:00324819.9CREBBP, EP300, MIR1281
21histone acetylationGO:00165739.8CREBBP, MECP2, SRCAP
22Notch signaling pathwayGO:00072199.8CREBBP, EP300, MIR1281
23protein stabilizationGO:00508219.8CREB1, EP300, MIR1281
24regulation of cellular response to heatGO:19000349.7CREBBP, EP300, MIR1281
25viral processGO:00160329.3CREB1, CREBBP, EP300, MIR1281, SRCAP
26memoryGO:00076139.1CREB1, EP300, MECP2
27positive regulation of transcription, DNA-templatedGO:00458939.0CREB1, CREBBP, EP300, MECP2, MIR1281
28response to hypoxiaGO:00016668.8CREB1, CREBBP, EP300, MECP2, MIR1281

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1peroxisome proliferator activated receptor bindingGO:004297510.6CREBBP, EP300
2pre-mRNA intronic bindingGO:009715710.5EP300, MIR1281
3lysine N-acetyltransferase activity, acting on acetyl phosphate as donorGO:000446810.5EP300, MIR1281
4nuclear hormone receptor bindingGO:003525710.3EP300, MIR1281
5acetyltransferase activityGO:001640710.1CREBBP, EP300, MIR1281
6peptide N-acetyltransferase activityGO:003421210.1CREBBP, EP300, MIR1281
7activating transcription factor bindingGO:003361310.1EP300, MIR1281
8p53 bindingGO:000203910.0CREBBP, EP300, MIR1281
9transferase activity, transferring acyl groupsGO:001674610.0EP300, MIR1281
10damaged DNA bindingGO:000368410.0CREBBP, EP300, MIR1281
11chromatin DNA bindingGO:00314909.9EP300, MECP2, MIR1281
12RNA polymerase II transcription factor bindingGO:00010859.8CREBBP, EP300, MIR1281
13RNA polymerase II activating transcription factor bindingGO:00011029.8CREB1, CREBBP, EP300, MIR1281
14histone acetyltransferase activityGO:00044029.7CREBBP, EP300, MIR1281, SRCAP
15transcription coactivator activityGO:00037139.6CREBBP, EP300, MIR1281, SRCAP
16chromatin bindingGO:00036829.1CREBBP, EP300, MECP2, MIR1281
17transcription factor bindingGO:00081348.7CREB1, CREBBP, EP300, MECP2, MIR1281

Sources for Rubinstein-Taybi Syndrome

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