RTS
MCID: RBN001
MIFTS: 75

Rubinstein-Taybi Syndrome (RTS) 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

Summaries for Rubinstein-Taybi Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Rubinstein-taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. the condition may be caused by mutations in the crebbp gene, the ep300 gene, or as the result of a deletion of genetic material from the short (p) arm of chromosome 16. about half of people with rubinstein-taybi syndrome do not have an identified mutation or a deletion. the cause of the condition in these cases is unknown. while rubinstein-taybi syndrome is considered to have an autosomal dominant pattern of inheritance, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. treatment is symptomatic and supportive. last updated: 3/17/2011

MalaCards: Rubinstein-Taybi Syndrome, also known as broad thumb-hallux syndrome, is related to mental retardation and floating-harbor syndrome, and has symptoms including capillary hemangioma/nevus/naevus flammeus/port-wine stain, glaucoma and telecanthus/canthal dystopy. An important gene associated with Rubinstein-Taybi Syndrome is CREBBP (CREB binding protein), and among its related pathways are Circadian Repression of Expression by REV-ERBA and Signaling events mediated by HDAC Class III. The compounds bicalutamide and thymine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and eye, and related mouse phenotypes are respiratory system and embryogenesis.

Genetics Home Reference:22 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.

Wikipedia:66 Rubinstein?Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a... more...

Description from OMIM:48 613684,180849,610543

GeneReviews summary for rsts

Aliases & Classifications for Rubinstein-Taybi Syndrome

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9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
rubinstein-taybi syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

rubinstein-taybi syndrome 9 10 66 20 44 21 23 22 48 11 46 50 63
broad thumb-hallux syndrome 9 66 44 22 50
rsts 66 44 22
broad thumbs and great toes, characteristic facies, and mental retardation 44
rubinstein-taybi syndrome due to crebbp mutations 50
broad thumbs-halluces syndrome 50
broad thumbs-hallux syndrome 20
rubinstein syndrome 44
rts 22


External Ids:

Disease Ontology9 DOID:1933
NCIt41 C75466
SNOMED-CT59 157032007, 45582004
MESH via Orphanet37 D012415
ICD10 via Orphanet27 Q87.2
SNOMED-CT via Orphanet60 45582004
UMLS via Orphanet64 C0035934

Related Diseases for Rubinstein-Taybi Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Rubinstein-Taybi Syndrome family:

Rubinstein Taybi Like Syndrome Crebbp-Related Rubinstein-Taybi Syndrome
Ep300-Related Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome 2
Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion

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

(show top 50)    (show all 320)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.7PAX6, EP300, CREBBP, CREB1
2floating-harbor syndrome30.5SRCAP
3acute promyelocytic leukemia30.5CREBBP, EP300
4colon cancer30.4CREB1, CREBBP, EP300
5leukemia30.3CREB1, CREBBP, EP300, PAX6
6t-cell leukemia30.3CREB1, CREBBP, EP300
7schizophrenia29.7CREB1, PDE4A, PAX6
8alzheimer's disease29.6EP300, PDE4A, CREBBP, CREB1
9breast cancer10.7
10glaucoma10.6
11keloids10.6
12rubinstein-taybi syndrome 210.6
13cervicitis10.6
14prostatitis10.5
15rubinstein-taybi syndrome due to 16p13.3 microdeletion10.5
16melanoma10.5
17prostate cancer10.5
18colorectal cancer10.5
19myeloid leukemia10.5
20sarcoma10.4
21obstructive sleep apnea10.4
22congenital hypothyroidism10.4
23coloboma10.4
24hypothyroidism10.4
25medulloblastoma10.4
26meningioma10.4
27sleep apnea10.4
28thyroiditis10.4
29chiari malformation10.4
30slipped capital femoral epiphysis10.4
31crebbp-related rubinstein-taybi syndrome10.4
32ep300-related rubinstein-taybi syndrome10.4
33peritonitis10.4
34acute myeloid leukemia10.4
35adenocarcinoma10.3
36lung cancer10.3
37endotheliitis10.3
38influenza10.3
39rothmund-thomson syndrome10.3
40newcastle disease10.3
41atypical teratoid rhabdoid tumor10.3
42chikungunya10.3
43hepatitis a10.3
44encephalitis10.3
45pituitary hypoplasia10.3
46kimura disease10.3
47familial mediterranean fever10.3
48spondylolisthesis10.3
49polydactyly10.3
50juvenile glaucoma10.3

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

180849

Clinical features from OMIM:

613684,180849,610543

Symptoms:

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

Drugs & Therapeutics for Rubinstein-Taybi Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Rubinstein-Taybi Syndrome

Drug clinical trials:

Search ClinicalTrials for Rubinstein-Taybi Syndrome

Search NIH Clinical Center for Rubinstein-Taybi Syndrome

Search CenterWatch for Rubinstein-Taybi Syndrome

Genetic Tests for Rubinstein-Taybi Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Rubinstein-Taybi Syndrome:

id Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome21 23 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

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34MalaCards
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MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

34
Bone, Testes, Eye, Lung, Thyroid, Heart, Spinal cord, Brain, Pituitary

Animal Models for Rubinstein-Taybi Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Rubinstein-Taybi Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4PAX6, EP300, CREBBP, CREB1
2MP:00053808.3CREB1, CREBBP, EP300, PAX6
3MP:00053698.2CREB1, CREBBP, EP300, PAX6
4MP:00053878.0PAX6, EP300, ADCY9, PDE4A, CREBBP
5MP:00053857.9CREB1, CREBBP, PDE4A, EP300, PAX6
6MP:00036317.5PAX6, EP300, PDE4A, CREBBP, CREB1

Publications for Rubinstein-Taybi Syndrome

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53PubMed
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Articles related to Rubinstein-Taybi Syndrome:

(show top 50)    (show all 276)
idTitleAuthorsYear
1
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
2
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
2013
3
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome. (22591219)
2013
4
Rubinstein-taybi syndrome with psychosis. (23162199)
2012
5
Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case. (22244492)
2012
6
Anesthetic management of children with Rubinstein-Taybi syndrome--case reports. (22435286)
2011
7
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. (20717166)
2011
8
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. (19350377)
2009
9
Lacrimal caruncle nevus associated with Rubinstein-Taybi syndrome. (18260291)
2007
10
Rubinstein-Taybi syndrome: clinical and molecular overview. (17942008)
2007
11
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. (16783566)
2006
12
Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. (16913274)
2006
13
Anesthetic management of a child with Rubinstein-Taybi syndrome. (15200662)
2004
14
A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails. (14871325)
2004
15
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (12566391)
2003
16
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. (12114483)
2002
17
General anaesthesia for a child with Rubinstein-Taybi syndrome. (12510910)
2002
18
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. (11805525)
2002
19
Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. (12072808)
2002
20
Stenosis of the lachrymal system in Rubinstein-Taybi syndrome. (12207132)
2002
21
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. (10699051)
2000
22
Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy. (10337678)
1999
23
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. (10573006)
1999
24
Two sisters with different chromosomal microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome. (9831356)
1998
25
Pediatric case of the day. Rubinstein-Taybi syndrome. (9397469)
1997
26
Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure. (9286447)
1997
27
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. (8825057)
1996
28
Multiple-marker screen positive results in Rubinstein-Taybi syndrome. (8938073)
1996
29
Anaesthesia in an infant with Rubinstein-Taybi syndrome. (7702143)
1995
30
Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. (7494163)
1995
31
Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report. (8170843)
1994
32
Rubinstein-Taybi syndrome: a history in pictures. (8298745)
1993
33
Apparent dominant transmission of the Rubinstein-Taybi syndrome. (8488872)
1993
34
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. (8430692)
1993
35
Congenital dislocation of the patella in Rubinstein Taybi syndrome. (8444597)
1993
36
Rubinstein-Taybi syndrome. (1598367)
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
Growth in the Rubinstein-Taybi syndrome. (2118779)
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Rubinstein-Taybi Syndrome:

65
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

Clinvar genetic disease variations for Rubinstein-Taybi Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1CREBBPNM_004380.2(CREBBP): c.2728A> G (p.Thr910Ala)single nucleotide variantPathogenicrs143247685GRCh37Chr 16, 3820723: 3820723
2CREBBPNM_004380.2(CREBBP): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121434624GRCh37Chr 16, 3900690: 3900690
3CREBBPNM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter)single nucleotide variantPathogenicrs121434625GRCh37Chr 16, 3843534: 3843534
4CREBBPNM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro)single nucleotide variantPathogenicrs121434626GRCh37Chr 16, 3790400: 3790400
5CREBBPCREBBP, 2-BP DEL, NT5222deletionPathogenic
6CREBBPNM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys)single nucleotide variantPathogenicrs28937315GRCh37Chr 16, 3807895: 3807895
7CREBBPNM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys)single nucleotide variantPathogenicrs267606752GRCh37Chr 16, 3799632: 3799632
8CREBBPCREBBP, IVS21, A-T, -2single nucleotide variantPathogenic

Expression for genes affiliated with Rubinstein-Taybi Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rubinstein-Taybi Syndrome

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

Pathways for genes affiliated with Rubinstein-Taybi Syndrome

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN, 31KEGG
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Pathways related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 88)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7EP300, CREBBP
29.7EP300, CREBBP
39.7EP300, CREBBP
4
Show member pathways
DNA damage Role of SUMO in p53 regulation61
9.7EP300, CREBBP
5
Show member pathways
FOXA transcription factor networks39
9.7EP300, CREBBP
69.7CREBBP, EP300
79.7CREBBP, EP300
8
Show member pathways
9.7CREBBP, EP300
99.3CREB1, CREBBP
109.2CREB1, EP300
11
Show member pathways
9.2CREB1, EP300
129.0CREB1, ADCY9
13
Show member pathways
9.0CREB1, ADCY9
14
Show member pathways
8.9EP300, CREBBP, CREB1
158.9EP300, CREB1, CREBBP
16
Show member pathways
8.9CREB1, CREBBP, EP300
178.9CREB1, CREBBP, EP300
18
Show member pathways
8.9CREB1, CREBBP, EP300
198.9EP300, CREBBP, CREB1
20
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
8.9EP300, CREBBP, CREB1
21
Show member pathways
8.9CREB1, CREBBP, EP300
22
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
8.9EP300, CREB1, CREBBP
23
Show member pathways
8.9CREB1, EP300, CREBBP
248.9CREB1, EP300, CREBBP
258.9CREB1, CREBBP, EP300
26
Show member pathways
8.9CREB1, EP300, CREBBP
278.9EP300, CREBBP, CREB1
28
Show member pathways
8.9EP300, CREBBP, CREB1
29
Show member pathways
Development Ligand independent activation of ESR1 and ESR261
8.9CREB1, CREBBP, EP300
308.9CREBBP, EP300, CREB1
318.9CREBBP, EP300, CREB1
32
Show member pathways
8.9CREBBP, CREB1, EP300
338.9CREBBP, EP300, CREB1
34
Show member pathways
Signaling Pathways in Glioblastoma39
8.9CREBBP, EP300, CREB1
358.7CREBBP, ADCY9, CREB1
36
Show member pathways
8.5PDE4A, ADCY9, CREB1
378.5ADCY9, PDE4A, CREB1
38
Show member pathways
Development Beta adrenergic receptors regulation of ERK61
G protein signaling G Protein alpha s signaling cascades61
G protein signaling G Protein beta gamma signaling cascades61
8.5ADCY9, PDE4A, CREB1
39
Show member pathways
8.5ADCY9, PDE4A, CREB1
40
Show member pathways
Signal transduction cAMP signaling61
8.5ADCY9, PDE4A, CREB1
41
Show member pathways
8.3CREBBP, PAX6, EP300, CREB1
42
Show member pathways
8.2EP300, ADCY9, CREBBP, CREB1
438.2CREB1, EP300, CREBBP, ADCY9
44
Show member pathways
8.2CREB1, EP300, ADCY9, CREBBP
45
Show member pathways
8.2EP300, ADCY9, CREBBP, CREB1
46
Show member pathways
8.2EP300, ADCY9, CREBBP, CREB1
47
Show member pathways
8.2ADCY9, CREB1, CREBBP, EP300
488.2CREBBP, CREB1, EP300, ADCY9
49
Show member pathways
7.7PAX6, CREB1, CREBBP, ADCY9, EP300
50
Show member pathways
7.7CREBBP, CREB1, PDE4A, ADCY9, EP300

Compounds for genes affiliated with Rubinstein-Taybi Syndrome

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46Novoseek, 62Tocris Bioscience, 12DrugBank, 25HMDB, 30IUPHAR, 52PharmGKB
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Compounds related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1bicalutamide46 62 1212.0CREBBP, EP300
2thymine46 2511.0EP300, CREBBP
3amino acid4610.0CREBBP, PDE4A
4phenylephrine46 30 25 1212.8CREBBP, EP300
5sq 2253646 6210.7PDE4A, ADCY9
6Cyclic GMP259.6ADCY9, PDE4A
7asparagine469.6EP300, PDE4A, CREBBP
82,5-dideoxyadenosine469.6CREB1, PDE4A
9proglucagon469.5CREB1, PAX6
10tamoxifen46 52 30 1212.5CREBBP, PDE4A, EP300
11phosphoserine46 2510.5CREB1, CREBBP
12cilostazol46 1210.5PDE4A, CREB1
13kt 572046 62 3011.5PDE4A, CREB1
14phosphoenolpyruvate46 1210.5CREB1, CREBBP
15budesonide46 52 1211.4PDE4A, CREB1
16proline469.4PAX6, EP300, CREBBP
17rolipram46 62 3011.4CREB1, PDE4A
1815-deoxy-delta-12,14-prostaglandin j2469.4CREB1, EP300
19prostaglandin f2alpha469.3CREB1, PDE4A
20rosiglitazone30 46 52 25 1213.3CREB1, CREBBP, EP300
21retinoid469.3CREB1, CREBBP, EP300
22etoposide46 52 62 1212.3CREB1, CREBBP, EP300
23butyrate469.2CREB1, CREBBP, EP300
24pge1469.2CREB1, PDE4A
25dbc-amp469.2CREB1, CREBBP, PDE4A
26isoproterenol46 1210.2CREB1, CREBBP, PDE4A
27progesterone46 30 62 25 1213.2EP300, PDE4A, CREBBP
28nmda46 3010.1CREB1, CREBBP, PDE4A
29arginine469.1PAX6, EP300, PDE4A, CREBBP
30ly294002469.1EP300, PDE4A, CREB1
31wortmannin469.0CREB1, PDE4A, EP300
32melatonin46 30 62 25 1213.0CREB1, PDE4A
33actinomycin d469.0CREB1, PDE4A, EP300
34glucose469.0PAX6, EP300, PDE4A, CREBBP
35pd 98,059468.8CREB1, CREBBP, PDE4A, EP300
36glutamine468.8EP300, PDE4A, CREBBP, CREB1
37pge2468.8CREB1, CREBBP, PDE4A, EP300
38steroid468.8EP300, PDE4A, CREBBP, CREB1
39zinc46 259.8EP300, PDE4A, CREBBP, CREB1
40threonine468.7PAX6, EP300, CREBBP, CREB1
41atp46 309.7EP300, PDE4A, CREBBP, CREB1
42adenylate468.7ADCY9, PDE4A, CREB1
43forskolin46 52 1210.6ADCY9, PDE4A, CREBBP, CREB1
44tyrosine468.3CREB1, CREBBP, PDE4A, EP300
45vegf468.3PAX6, EP300, PDE4A, CREBBP, CREB1
46retinoic acid46 259.3PAX6, EP300, PDE4A, CREBBP, CREB1
47serine468.2PAX6, EP300, PDE4A, CREBBP, CREB1
48magnesium46 25 1210.2ADCY9, PDE4A, CREB1
49cyclic amp46 259.2CREB1, CREBBP, PDE4A, ADCY9, EP300
50calcium46 52 25 1211.1EP300, ADCY9, PDE4A, CREBBP, CREB1

GO Terms for genes affiliated with Rubinstein-Taybi Syndrome

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17Gene Ontology
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Cellular components related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase complexGO:0001239.6CREBBP, EP300
2nuclear chromatinGO:0007909.6CREBBP, PAX6
3transcription factor complexGO:0056678.6CREB1, CREBBP, EP300

Biological processes related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1N-terminal peptidyl-lysine acetylationGO:01807610.0CREBBP, EP300
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.9CREBBP, EP300
3histone acetylationGO:0165739.8CREBBP, SRCAP
4positive regulation of type I interferon productionGO:0324819.7EP300, CREBBP
5organ morphogenesisGO:0098879.5EP300, PAX6
6cellular response to hypoxiaGO:0714569.4CREBBP, EP300
7pituitary gland developmentGO:0219839.2CREB1, PAX6
8Notch signaling pathwayGO:0072199.1CREB1, CREBBP, EP300
9activation of phospholipase C activityGO:0072029.1CREB1, ADCY9
10positive regulation of transcription, DNA-templatedGO:0458938.7CREB1, CREBBP, PAX6
11viral processGO:0160328.7EP300, SRCAP, CREBBP, CREB1
12innate immune responseGO:0450878.5EP300, ADCY9, CREBBP, CREB1
13signal transductionGO:0071658.3ADCY9, PDE4A, CREBBP, CREB1

Molecular functions related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetyltransferase activityGO:0164079.7CREBBP, EP300
2p53 bindingGO:0020399.7CREBBP, EP300
3histone acetyltransferase activityGO:0044029.3CREBBP, SRCAP, EP300
4transcription coactivator activityGO:0037139.1EP300, SRCAP, CREBBP
5RNA polymerase II activating transcription factor bindingGO:0011029.0CREB1, CREBBP, EP300
6transcription factor bindingGO:0081348.9CREBBP, EP300, PAX6

Products for genes affiliated with Rubinstein-Taybi Syndrome

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Sources for Rubinstein-Taybi Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet