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

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Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 68UniProtKB/Swiss-Prot, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Rubinstein-Taybi Syndrome:

Name: Rubinstein-Taybi Syndrome 50 11 69 22 46 23 24 13 52 25 12 48 37 66
Broad Thumb-Hallux Syndrome 11 69 46 24 52 68
Rubinstein Syndrome 11 46 68
Rsts 69 46 24
Broad Thumbs-Hallux Syndrome 22 23
Rubinstein-Taybi Syndrome 1 50 68
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 46
 
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 68
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 52
Chromosome 16p13.3 Deletion Syndrome, Proximal 66
Proximal Chromosome 16p13.3 Deletion Syndrome 11
Broad Thumbs-Halluces Syndrome 52
Rsts1 68
Rts 24

Characteristics:

Orphanet epidemiological data:

52
rubinstein-taybi syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age

HPO:

62
rubinstein-taybi syndrome:
Inheritance: autosomal dominant inheritance, heterogeneous, sporadic
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 180849
Disease Ontology11 DOID:1933
ICD1028 Q87.2
MeSH37 D012415
NCIt43 C75466
SNOMED-CT60 157032007, 45582004
UMLS via Orphanet67 C0035934
ICD10 via Orphanet29 Q87.2
MESH via Orphanet38 D012415
MedGen35 C0035934

Summaries for Rubinstein-Taybi Syndrome

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OMIM:50 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 craniofacial.

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:24 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:46 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:68 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:69 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...

GeneReviews summary 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 84)
idRelated DiseaseScoreTop Affiliating Genes
1rubinstein-taybi syndrome 212.6
2ep300-related rubinstein-taybi syndrome12.4
3crebbp-related rubinstein-taybi syndrome12.3
4rothmund-thomson syndrome11.6
5atypical teratoid rhabdoid tumor11.5
6chromosome 16p13.3 deletion syndrome, proximal11.3
7rett syndrome11.1
8chromosome 16p13.3 deletion syndrome10.8
9keloids10.5
10narcolepsy 410.5EP300, MIR1281
11cervicitis10.4
12breast cancer10.4
13colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.3
14floating-harbor syndrome10.3
15coffin-lowry syndrome10.3
16scoliosis10.3
17generalized epilepsy with febrile seizures plus, type 910.3CREBBP, SRCAP
18parainfluenza virus type 310.3CREB1, CREBBP, EP300
19human t-cell leukemia virus type 310.3CREB1, CREBBP, EP300
20neuroblastoma10.2
21medulloblastoma10.2
22congenital hypothyroidism10.2
23sleep apnea10.2
24obstructive sleep apnea10.2
25hypothyroidism10.2
26thyroiditis10.2
27chiari malformation10.2
28slipped capital femoral epiphysis10.2
29intracranial cysts10.1CREB1, CREBBP, EP300
30pheochromocytoma10.1
31anterior segment mesenchymal dysgenesis10.1
32smith-lemli-opitz syndrome10.1
33gastroesophageal reflux10.1
34piebaldism10.1
35tricuspid atresia10.1
36pulmonary hypertension10.1
37acute leukemia10.1
38follicular lymphoma10.1
39hemangioma10.1
40hepatitis10.1
41leukemia10.1
42spondylolisthesis10.1
43brachydactyly10.1
44lymphoma10.1
45nasopharyngitis10.1
46imperforate anus10.1
47meningoencephalitis10.1
48juvenile glaucoma10.1
49microcephaly10.1
50megacolon10.1

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:

 52 (show all 45)
  • cryptorchidism
  • abnormality of the teeth
  • high palate
  • microcephaly
  • epicanthus
  • hypertelorism
  • micrognathia
  • hearing impairment
  • low-set ears
  • wide nasal bridge
  • convex nasal ridge
  • strabismus
  • downslanted palpebral fissures
  • glaucoma
  • telecanthus
  • ptosis
  • nasolacrimal duct obstruction
  • carious teeth
  • irritability
  • anxiety
  • atypical scarring of skin
  • brachydactyly syndrome
  • intellectual disability
  • seizures
  • global developmental delay
  • hip dysplasia
  • failure to thrive in infancy
  • polyhydramnios
  • constipation
  • respiratory insufficiency
  • generalized hirsutism
  • highly arched eyebrow
  • malformation of the heart and great vessels
  • clinodactyly of the 5th finger
  • short stature
  • capillary hemangiomas
  • joint hyperflexibility
  • finger syndactyly
  • attention deficit hyperactivity disorder
  • feeding difficulties in infancy
  • abnormality of the distal phalanx of finger
  • broad hallux phalanx
  • keloids
  • broad thumb
  • clubbing of toes

HPO human phenotypes related to Rubinstein-Taybi Syndrome:

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

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Valproic AcidPhase 231899-66-13121
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

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 Syndrome25 23 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

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MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.3CREB1, CREBBP, EP300, GAS1, LRP4, MECP2
2MP:00053827.5CREBBP, EP300, GAS1, KAT6A, LRP4, MECP2
3MP:00053907.1CREB1, CREBBP, GAS1, KAT6A, LRP4, MECP2
4MP:00053846.5CREB1, CREBBP, EP300, GAS1, KAT6A, LRP4
5MP:00053806.4CREB1, CREBBP, EP300, GAS1, KAT6A, LRP4
6MP:00107685.8ADCY9, CREB1, CREBBP, EP300, GAS1, KAT6A

Publications for Rubinstein-Taybi Syndrome

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Articles related to Rubinstein-Taybi Syndrome:

(show top 50)    (show all 334)
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
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. (27011324)
2016
4
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. (25599811)
2015
5
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. (25712426)
2015
6
Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome. (25861312)
2015
7
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report. (25596810)
2015
8
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
9
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
2013
10
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome. (22591219)
2013
11
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
12
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome. (22426292)
2012
13
Rubinstein-taybi syndrome with psychosis. (23162199)
2012
14
Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case. (22244492)
2012
15
Rubinstein-Taybi syndrome in first cousins with different de novo mutations. (20358623)
2010
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:

68 (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_035083
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 76)
id Gene Variation Type Significance SNP ID Assembly Location
1CREBBPNM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter)single nucleotide variantPathogenicrs587783460GRCh37Chr 16, 3843540: 3843540
2CREBBPNM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter)single nucleotide variantPathogenicrs587783461GRCh37Chr 16, 3843447: 3843447
3CREBBPNM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter)single nucleotide variantPathogenicrs587783463GRCh37Chr 16, 3842055: 3842055
4CREBBPNM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter)single nucleotide variantPathogenicrs587783464GRCh37Chr 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)single nucleotide variantPathogenicrs587783471GRCh38Chr 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)single nucleotide variantPathogenicrs587783475GRCh37Chr 16, 3820660: 3820660
12CREBBPNM_004380.2(CREBBP): c.286C> T (p.Gln96Ter)single nucleotide variantPathogenicrs587783476GRCh38Chr 16, 3850809: 3850809
13CREBBPNM_004380.2(CREBBP): c.299delG (p.Gly100Valfs)deletionPathogenicrs587783477GRCh37Chr 16, 3900797: 3900797
14CREBBPNM_004380.2(CREBBP): c.316C> T (p.Gln106Ter)single nucleotide variantPathogenicrs587783478GRCh37Chr 16, 3900780: 3900780
15CREBBPNM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter)single nucleotide variantPathogenicrs587783479GRCh37Chr 16, 3808914: 3808914
16CREBBPNM_004380.2(CREBBP): c.3369+1G> Tsingle nucleotide variantPathogenicrs587783480GRCh37Chr 16, 3808854: 3808854
17CREBBPNM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys)single nucleotide variantLikely pathogenicrs587783481GRCh37Chr 16, 3807919: 3807919
18CREBBPNM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter)single nucleotide variantPathogenicrs587783482GRCh38Chr 16, 3757373: 3757373
19CREBBPNM_004380.2(CREBBP): c.3779+1G> Asingle nucleotide variantPathogenicrs587783483GRCh37Chr 16, 3801726: 3801726
20CREBBPNM_004380.2(CREBBP): c.37A> G (p.Lys13Glu)single nucleotide variantLikely pathogenicrs587783484GRCh38Chr 16, 3879880: 3879880
21CREBBPNM_004380.2(CREBBP): c.3836+1G> Asingle nucleotide variantPathogenicrs200782888GRCh37Chr 16, 3799627: 3799627
22CREBBPNM_004380.2(CREBBP): c.3914+3G> Tsingle nucleotide variantLikely pathogenicrs587783485GRCh37Chr 16, 3795275: 3795275
23CREBBPNM_004380.2(CREBBP): c.3983-2A> Gsingle nucleotide variantPathogenicrs587783486GRCh37Chr 16, 3790552: 3790552
24CREBBPNM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro)single nucleotide variantLikely pathogenicrs587783488GRCh38Chr 16, 3740510: 3740510
25CREBBPNM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter)single nucleotide variantPathogenicrs587783489GRCh38Chr 16, 3740487: 3740487
26CREBBPNM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter)single nucleotide variantPathogenicrs587783490GRCh38Chr 16, 3740454: 3740454
27CREBBPNM_004380.2(CREBBP): c.4133+1G> Asingle nucleotide variantPathogenicrs587783491GRCh37Chr 16, 3790399: 3790399
28CREBBPNM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser)single nucleotide variantLikely pathogenicrs587783492GRCh37Chr 16, 3789633: 3789633
29CREBBPNM_004380.2(CREBBP): c.4281-11C> Gsingle nucleotide variantLikely pathogenicrs587783493GRCh37Chr 16, 3788684: 3788684
30CREBBPNM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly)single nucleotide variantLikely pathogenicrs587783494GRCh37Chr 16, 3788578: 3788578
31CREBBPNM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter)single nucleotide variantPathogenicrs147688139GRCh37Chr 16, 3786813: 3786813
32CREBBPNM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp)single nucleotide variantPathogenicrs587783495GRCh37Chr 16, 3786767: 3786767
33CREBBPNM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys)single nucleotide variantLikely pathogenicrs587783496GRCh37Chr 16, 3786766: 3786766
34CREBBPNM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys)single nucleotide variantPathogenicrs587783497GRCh37Chr 16, 3786703: 3786703
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)single nucleotide variantLikely pathogenicrs587783503GRCh38Chr 16, 3731314: 3731314
38CREBBPNM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter)single nucleotide variantPathogenicrs587783505GRCh37Chr 16, 3779227: 3779227
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)single nucleotide variantPathogenicrs587783509GRCh37Chr 16, 3900498: 3900498
43CREBBPNM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter)single nucleotide variantPathogenicrs587783510GRCh37Chr 16, 3778960: 3778960
44CREBBPNM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del)deletionLikely pathogenicrs587783511GRCh37Chr 16, 3778877: 3778918
45CREBBPNM_004380.2(CREBBP): c.86-2A> Csingle nucleotide variantPathogenicrs587783515GRCh38Chr 16, 3851011: 3851011
46CREBBPNM_004380.2(CREBBP): c.953C> A (p.Ser318Ter)single nucleotide variantPathogenicrs587783516GRCh37Chr 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)single nucleotide variantLikely pathogenicrs797045037GRCh37Chr 16, 3779434: 3779434
50CREBBPNM_004380.2(CREBBP): c.(?_-23)_85+?deldeletionPathogenicGRCh38Chr 16, 3879832: 3879939
51CREBBPNM_004380.2(CREBBP): c.2178dupC (p.Met727Hisfs)duplicationPathogenicrs797045483GRCh37Chr 16, 3824675: 3824675
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)single nucleotide variantPathogenicrs797045487GRCh37Chr 16, 3929916: 3929916
56CREBBPNM_004380.2(CREBBP): c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs)indelPathogenicrs797045488GRCh37Chr 16, 3817886: 3817894
57CREBBPNM_004380.2(CREBBP): c.3436C> T (p.Gln1146Ter)single nucleotide variantPathogenicrs797045489GRCh37Chr 16, 3807983: 3807983
58CREBBPNM_004380.2(CREBBP): c.3461dupT (p.Asp1155Glyfs)duplicationPathogenicrs797045490GRCh38Chr 16, 3757957: 3757957
59CREBBPNM_004380.2(CREBBP): c.348_349dupTG (p.Ala117Valfs)duplicationPathogenicrs797045491GRCh37Chr 16, 3900747: 3900748
60CREBBPNM_004380.2(CREBBP): c.3490G> C (p.Ala1164Pro)single nucleotide variantLikely pathogenicrs797045492GRCh37Chr 16, 3807929: 3807929
61CREBBPNM_004380.2(CREBBP): c.4281G> T (p.Arg1427Ser)single nucleotide variantLikely pathogenicrs797045494GRCh38Chr 16, 3738672: 3738672
62CREBBPNM_004380.2(CREBBP): c.5027G> A (p.Trp1676Ter)single nucleotide variantPathogenicrs797045495GRCh38Chr 16, 3731337: 3731337
63CREBBPNM_004380.2(CREBBP): c.5412C> A (p.His1804Gln)single nucleotide variantLikely pathogenicrs797045496GRCh37Chr 16, 3779636: 3779636
64CREBBPNM_004380.2(CREBBP): c.5837dupC (p.Pro1947Thrfs)duplicationPathogenicrs797045497GRCh37Chr 16, 3779211: 3779211
65CREBBPNM_004380.2(CREBBP): c.5936_5937insT (p.Ser1980Glnfs)insertionPathogenicrs797045498GRCh37Chr 16, 3779111: 3779112
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> Tsingle nucleotide variantPathogenicrs11644721GRCh37Chr 16, 3901011: 3901011
70CREBBPNM_004380.2(CREBBP): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121434624GRCh37Chr 16, 3900690: 3900690
71CREBBPNM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter)single nucleotide variantPathogenicrs121434625GRCh37Chr 16, 3843534: 3843534
72CREBBPNM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro)single nucleotide variantPathogenicrs121434626GRCh37Chr 16, 3790400: 3790400
73CREBBPCREBBP, 2-BP DEL, NT5222deletionPathogenic
74CREBBPNM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys)single nucleotide variantPathogenicrs28937315GRCh37Chr 16, 3807895: 3807895
75CREBBPNM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys)single nucleotide variantPathogenicrs267606752GRCh37Chr 16, 3799632: 3799632
76CREBBPCREBBP, IVS21, A-T, -2single nucleotide variantPathogenic

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

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
110.0CREBBP, EP300
210.0CREB1, CREBBP
39.7CREB1, CREBBP, EP300
49.7CREB1, CREBBP, EP300
59.7CREB1, CREBBP, EP300
6
Show member pathways
9.7CREB1, CREBBP, EP300
79.7CREB1, CREBBP, EP300
89.7CREB1, CREBBP, EP300
99.7CREB1, CREBBP, EP300
10
Show member pathways
9.7CREB1, CREBBP, EP300
119.6CREBBP, EP300, GAS1
129.4ADCY9, CREB1, CREBBP, EP300
13
Show member pathways
9.4ADCY9, CREB1, CREBBP, EP300
149.4EP300, KAT6A
159.1CREB1, CREBBP, EP300, MECP2
16
Show member pathways
9.0ADCY9, CREB1, CREBBP, EP300, GAS1
17
Show member pathways
9.0ADCY9, CREB1, CREBBP, EP300, GAS1

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:00001239.8CREBBP, EP300, MIR1281
2transcription factor complexGO:00056679.4CREB1, CREBBP, EP300, MIR1281

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1histone H2B acetylationGO:004396910.6EP300, MIR1281
2regulation of tubulin deacetylationGO:009004310.6EP300, MIR1281
3internal protein amino acid acetylationGO:000647510.6EP300, MIR1281
4internal peptidyl-lysine acetylationGO:001839310.6EP300, MIR1281
5megakaryocyte developmentGO:003585510.5EP300, MIR1281
6positive regulation by host of viral transcriptionGO:004392310.5EP300, MIR1281
7platelet formationGO:003022010.5EP300, MIR1281
8positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein responseGO:000699010.4EP300, MIR1281
9regulation of androgen receptor signaling pathwayGO:006076510.3EP300, MIR1281
10regulation of smoothened signaling pathwayGO:000858910.3CREBBP, GAS1
11cellular response to UVGO:003464410.2CREBBP, EP300, MIR1281
12stimulatory C-type lectin receptor signaling pathwayGO:000222310.2CREBBP, EP300, MIR1281
13N-terminal peptidyl-lysine acetylationGO:001807610.2CREBBP, EP300, MIR1281
14regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141810.2CREBBP, EP300, MIR1281
15beta-catenin-TCF complex assemblyGO:190483710.1CREBBP, EP300, MIR1281
16Notch signaling pathwayGO:000721910.0CREBBP, EP300, MIR1281
17positive regulation of type I interferon productionGO:003248110.0CREBBP, EP300, MIR1281
18fat cell differentiationGO:00454449.9EP300, MIR1281, NIPBL
19regulation of cellular response to heatGO:19000349.8CREBBP, EP300, MIR1281
20protein stabilizationGO:00508219.8CREB1, EP300, MIR1281
21circadian rhythmGO:00076239.7CREB1, EP300, MIR1281
22regulation of signal transduction by p53 class mediatorGO:19017969.4EP300, KAT6A, MIR1281
23viral processGO:00160329.4CREB1, CREBBP, EP300, MIR1281, SRCAP
24protein acetylationGO:00064739.4CREBBP, EP300, KAT6A, MIR1281
25memoryGO:00076139.3CREB1, EP300, MECP2
26histone acetylationGO:00165739.0CREBBP, KAT6A, MECP2, SRCAP
27heart developmentGO:00075078.7EP300, MECP2, MIR1281, NIPBL
28response to hypoxiaGO:00016668.5CREB1, CREBBP, EP300, MECP2, MIR1281
29positive regulation of transcription, DNA-templatedGO:00458938.2CREB1, CREBBP, EP300, KAT6A, MECP2, MIR1281

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1pre-mRNA intronic bindingGO:009715710.6EP300, MIR1281
2lysine N-acetyltransferase activity, acting on acetyl phosphate as donorGO:000446810.5EP300, MIR1281
3peroxisome proliferator activated receptor bindingGO:004297510.4CREBBP, EP300
4nuclear hormone receptor bindingGO:003525710.3EP300, MIR1281
5transferase activity, transferring acyl groupsGO:001674610.2EP300, MIR1281
6activating transcription factor bindingGO:003361310.2EP300, MIR1281
7peptide N-acetyltransferase activityGO:003421210.1CREBBP, EP300, MIR1281
8p53 bindingGO:000203910.1CREBBP, EP300, MIR1281
9damaged DNA bindingGO:000368410.0CREBBP, EP300, MIR1281
10RNA polymerase II transcription factor bindingGO:000108510.0CREBBP, EP300, MIR1281
11RNA polymerase II activating transcription factor bindingGO:00011029.8CREB1, CREBBP, EP300, MIR1281
12chromatin DNA bindingGO:00314909.8EP300, MECP2, MIR1281
13acetyltransferase activityGO:00164079.3CREBBP, EP300, KAT6A, MIR1281
14histone acetyltransferase activityGO:00044029.0CREBBP, EP300, KAT6A, MIR1281, SRCAP
15transcription coactivator activityGO:00037138.9CREBBP, EP300, KAT6A, MIR1281, SRCAP
16chromatin bindingGO:00036828.4CREBBP, EP300, MECP2, MIR1281, NIPBL
17transcription factor bindingGO:00081348.0CREB1, CREBBP, EP300, KAT6A, MECP2, MIR1281

Sources for Rubinstein-Taybi Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet