RTS
MCID: RBN001
MIFTS: 78

Rubinstein-Taybi Syndrome (RTS) malady

Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories

Summaries for Rubinstein-Taybi Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 breast cancer and melanoma, and has symptoms including constipation, respiratory distress/dyspnea/respiratory failure/lung volume reduction and congenital cardiac anomaly/malformation/cardiopathy. An important gene associated with Rubinstein-Taybi Syndrome is CREBBP (CREB binding protein), and among its related pathways are LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production and Cellular response to hypoxia. The compounds proglucagon and rosiglitazone have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and brain, and related mouse phenotypes are embryogenesis and respiratory system.

Genetics Home Reference:21 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:63 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...

Description from OMIM:46 613684,180849,610543

GeneReviews summary for rsts

Aliases & Classifications for Rubinstein-Taybi Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
rubinstein-taybi syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rubinstein-taybi syndrome 8 9 63 19 42 20 22 21 46 10 44 48 60
broad thumb-hallux syndrome 8 63 42 21
rsts 63 42 21
broad thumbs and great toes, characteristic facies, and mental retardation 42
rubinstein-taybi syndrome due to crebbp mutations 48
broad thumbs-hallux syndrome 19
rubinstein syndrome 42
rts 21


External Ids:

Disease Ontology8 DOID:1933
NCIt39 C75466
SNOMED-CT56 45582004, 157032007
MESH via Orphanet35 D012415
ICD10 via Orphanet26 Q87.2
SNOMED-CT via Orphanet57 45582004
UMLS via Orphanet61 C0035934

Related Diseases for Rubinstein-Taybi Syndrome

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Sources:
17GeneCards, 18GeneDecks
See all sources

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 309)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.0EP300, HDAC9, CREBBP
2melanoma30.6PDE4A, CREB1, HDAC9, EP300
3prostate cancer30.6CREBBP, CREB1, HDAC9, EP300
4colorectal cancer30.6CREBBP, HDAC9, EP300, PAX6
5medulloblastoma30.5PAX6, CREBBP
6acute leukemia30.3HDAC9, CREB1, CREBBP
7chronic myeloid leukemia30.2CREBBP, CREB1, HDAC9
8t-cell leukemia30.2CREBBP, CREB1, HDAC9, EP300
9pancreatic cancer30.1HDAC9
10glaucoma10.6
11rubinstein-taybi syndrome 210.6
12adult syndrome10.5
13cervicitis10.5
14prostatitis10.5
15dandy-walker syndrome10.5
16rubinstein-taybi syndrome due to 16p13.3 microdeletion10.5
17lymph node cancer10.4
18myeloid leukemia10.4
19congenital hypothyroidism10.4
20coloboma10.4
21hypoplastic left heart syndrome10.4
22hypothyroidism10.4
23meningioma10.4
24thyroiditis10.4
25crebbp-related rubinstein-taybi syndrome10.4
26ep300-related rubinstein-taybi syndrome10.4
27sarcoma10.4
28peritonitis10.4
29acute myeloid leukemia10.3
30squamous cell carcinoma10.3
31hepatitis a10.3
32adenocarcinoma10.3
33colon cancer10.3
34lung cancer10.3
35stroke, ischemic10.3
36influenza10.3
37newcastle disease10.2
38rothmund-thomson syndrome10.2
39atypical teratoid rhabdoid tumor10.2
40smith-lemli-opitz syndrome10.2
41pituitary hypoplasia10.2
42kimura disease10.2
43pilomatrixoma10.2
44spondylolisthesis10.2
45familial mediterranean fever10.2
46tracheal stenosis10.2
47piebaldism10.2
48brachydactyly10.2
49west syndrome10.2
50eosinophilic esophagitis10.2

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



Diseases related to rubinstein-taybi syndrome

Clinical Features for Rubinstein-Taybi Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

613684,180849,610543

Clinical synopsis from OMIM:

180849

Symptoms:

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

Drugs & Therapeutics for Rubinstein-Taybi Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to Rubinstein-Taybi Syndrome:

id Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome20 22 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

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32MalaCards
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MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

32
Eye, Heart, Brain, Kidney, Bone, Testes, Lung, Thyroid, Pituitary, Spinal cord

Animal Models for Rubinstein-Taybi Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Rubinstein-Taybi Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.4PAX6, KIF7, GAS1
2MP:00053888.8CREBBP, CREB1, EP300, KIF7, KIF27
3MP:00053828.6GAS1, CREBBP, EP300, KIF7, KIF27, PAX6
4MP:00053698.4CREBBP, CREB1, HDAC9, EP300, KIF7, PAX6
5MP:00107687.6CREBBP, CREB1, HDAC9, EP300, KIF7, KIF27
6MP:00036317.3PDE4A, GAS1, CREBBP, CREB1, EP300, KIF7
7MP:00053877.2PDE4A, CREBBP, CREB1, EP300, KIF27, PAX6
8MP:00053857.0PAX6, PDE4A, GAS1, CREBBP, CREB1, HDAC9

Publications for Rubinstein-Taybi Syndrome

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50PubMed
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Articles related to Rubinstein-Taybi Syndrome:

(show top 50)    (show all 279)
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
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome. (22591219)
2013
3
Potential therapy for Rubinstein-Taybi syndrome. (23951434)
2012
4
Rubinstein-taybi syndrome: a case report. (22991675)
2012
5
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. (21932317)
2011
6
Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome. (21085895)
2010
7
Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome? (20101707)
2010
8
Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene. (20583168)
2010
9
Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. (17318847)
2007
10
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. (17473832)
2007
11
Rubinstein-Taybi syndrome in children with tethered spinal cord. (17328274)
2006
12
Rubinstein-Taybi syndrome. (16868563)
2006
13
Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. (16786226)
2006
14
Periodontal disease in a Rubinstein-Taybi syndrome patient: case report. (16759328)
2006
15
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. (15706485)
2005
16
Dental treatment of a child with Rubinstein-Taybi syndrome. (16435638)
2005
17
Anesthetic management of a child with Rubinstein-Taybi syndrome. (15200662)
2004
18
General anaesthesia for a child with Rubinstein-Taybi syndrome. (12510910)
2002
19
Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. (12072808)
2002
20
Rubinstein-Taybi syndrome and hypoplastic left heart. (12239733)
2002
21
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. (11331617)
2001
22
Rubinstein-Taybi syndrome with humoral and cellular defects: a case report. (10999879)
2000
23
Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy. (10337678)
1999
24
Duplicated longitudinal bracketed epiphysis "kissing delta phalanx" in Rubinstein-Taybi syndrome. (10488859)
1999
25
Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. (10229563)
1998
26
Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. (9132490)
1997
27
Medulloblastoma in patient with Rubinstein-Taybi syndrome. (8985503)
1996
28
Anaesthesia in an infant with Rubinstein-Taybi syndrome. (7702143)
1995
29
Coloboma associated with Rubinstein-Taybi syndrome. (7494168)
1995
30
Cardiac abnormalities in the Rubinstein-Taybi syndrome. (8599359)
1995
31
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. (8430692)
1993
32
Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome. (8275564)
1993
33
Rubinstein-Taybi Syndrome (20301699)
1993
34
Rubinstein-Taybi syndrome and pheochromocytoma. (1488992)
1992
35
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. (1415341)
1992
36
Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). (1456298)
1992
37
Rubinstein-Taybi syndrome associated with Dandy-Walker cyst. Case report in a newborn. (2625658)
1989
38
Surgical treatment of the thumb in the Rubinstein-Taybi syndrome. (3624969)
1987
39
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-FranAsois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. (3934624)
1985
40
Rubinstein-Taybi syndrome. (6556578)
1983
41
Succinylcholine in Rubinstein-Taybi syndrome. (7137629)
1982
42
Gastroesophageal reflux in Rubinstein--Taybi syndrome. (7186038)
1982
43
Monozygotic twins discordant for rubinstein-taybi syndrome. (7196955)
1981
44
Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome. (7368907)
1980
45
The Rubinstein-Taybi Syndrome. Report of five cases. Investigations have revealed no genetic pattern, chromosonal abnormality, metabolic defect, or prenatal insult. (5279728)
1971
46
Partial Rubinstein-Taybi syndrome. (4105753)
1971
47
Dermatoglyphics in Rubinstein-Taybi syndrome in Japan. (5559739)
1971
48
A case of the Rubinstein-Taybi syndrome. (4979345)
1969
49
Broad thumbs and great toes syndrome. Rubinstein-Taybi syndrome. (5773784)
1969
50
Rubinstein-Taybi syndrome: broad thumbs and toes, facial abnormalities and mental retaradtion. (6046013)
1967

Genetic Variations for Rubinstein-Taybi Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Rubinstein-Taybi Syndrome:

62
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

Expression for genes affiliated with Rubinstein-Taybi Syndrome

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1BioGPS, 15Gene 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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53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 29KEGG, 49PharmGKB
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Pathways related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CREBBP, EP300
2
Hide members
10.0EP300, CREBBP
3
Hide members
10.0CREBBP, EP300
4
Hide members
9.7CREB1, ADCY9
59.7EP300, CREBBP, GAS1
69.5EP300, CREB1, CREBBP
79.5EP300, CREB1, CREBBP
8
Development Ligand-independent activation of ESR1 and ESR2
Hide members
9.5EP300, CREB1, CREBBP
9
Hide members
9.5EP300, CREB1, CREBBP
10
Development Prolactin receptor signaling
Hide members
9.5EP300, CREB1, CREBBP
11
Hide members
9.5EP300, CREB1, CREBBP
129.5CREBBP, CREB1, EP300
139.5CREBBP, CREB1, EP300
14
Hide members
9.5CREBBP, CREB1, EP300
159.5CREBBP, CREB1, EP300
16
Hide members
9.5CREBBP, CREB1, EP300
179.5CREBBP, CREB1, EP300
189.5CREBBP, CREB1, EP300
199.5CREBBP, HDAC9, EP300
20
Hide members
9.5CREBBP, HDAC9, EP300
21
Hide members
9.5EP300, HDAC9, CREBBP
22
Hide members
9.4ADCY9, CREB1, CREBBP
23
Hide members
9.3EP300, CREBBP, SAP18
24
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
Hide members
9.3EP300, CREBBP, SAP18
259.3CREBBP, GAS1, SAP18
26
Hide members
9.2ADCY9, EP300, CREB1, CREBBP
279.2CREBBP, CREB1, EP300, ADCY9
28
Hide members
9.2ADCY9, CREB1, CREBBP, GAS1
29
Hide members
9.1EP300, HDAC9, CREB1, CREBBP
309.1EP300, HDAC9, CREB1, CREBBP
31
Hide members
9.1CREBBP, CREB1, HDAC9, EP300
329.1CREBBP, CREB1, HDAC9, EP300
338.9EP300, CREB1, CREBBP, SAP18
34
Hide members
8.9ADCY9, EP300, CREB1, CREBBP, GAS1
35
Hide members
8.9GAS1, CREBBP, CREB1, EP300, ADCY9
368.9SAP18, CREBBP, HDAC9, EP300
378.9PDE4A, CREB1, ADCY9
38
G-protein signaling G-Protein alpha-i signaling cascades
Hide members
8.9PDE4A, CREB1, ADCY9
39
Hide members
8.9PDE4A, CREB1, ADCY9
40
Signal transduction cAMP signaling
Hide members
8.9ADCY9, CREB1, PDE4A
418.7CREBBP, CREB1, HDAC9, EP300, ADCY9
42
Hide members
8.5ADCY9, PAX6, EP300, CREB1, CREBBP, GAS1
43
Hide members
8.4GAS1, CREBBP, CREB1, HDAC9, EP300, ADCY9
44
Hide members
8.4GAS1, CREBBP, CREB1, HDAC9, EP300, ADCY9
45
Hide members
7.9ADCY9, EP300, HDAC9, CREB1, CREBBP, PDE4A

Compounds for genes affiliated with Rubinstein-Taybi Syndrome

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1proglucagon4410.0PAX6, CREB1
2rosiglitazone44 49 28 11 2413.8CREBBP, CREB1, EP300
3adriamycin449.8EP300, HDAC9, CREBBP
4amino acid449.6CREBBP, PDE4A
52,5-dideoxyadenosine449.6CREB1, PDE4A
6sq 2253659 4410.6ADCY9, PDE4A
7curcumin449.5CREB1, HDAC9, EP300
8asparagine449.5PDE4A, CREBBP, EP300
9retinoid449.5CREBBP, CREB1, HDAC9, EP300
10etoposide44 49 59 1112.5CREBBP, CREB1, HDAC9, EP300
11butyrate449.5EP300, HDAC9, CREB1, CREBBP
12cilostazol44 1110.4CREB1, PDE4A
13okadaic acid44 5910.4HDAC9, CREB1, CREBBP
14calcitriol44 59 11 2412.3EP300, HDAC9, CREB1
15dbc-amp449.3PDE4A, CREBBP, CREB1
16acetyl-coa44 2410.3EP300, GLYATL1, CREBBP
17kt 572044 28 5911.3PDE4A, CREB1
18lead449.3PDE4A, HDAC9, EP300
19isoproterenol44 1110.1CREB1, CREBBP, PDE4A
20tamoxifen44 49 28 1112.0PDE4A, CREBBP, HDAC9, EP300
21forskolin44 49 1110.9ADCY9, CREB1, CREBBP, PDE4A
22ly294002448.9EP300, HDAC9, CREB1, PDE4A
23pd 98,059448.7PDE4A, CREBBP, CREB1, HDAC9, EP300
24glutamine448.7PDE4A, CREBBP, CREB1, HDAC9, EP300
25pge2448.7PDE4A, CREBBP, CREB1, HDAC9, EP300
26steroid448.6EP300, HDAC9, CREB1, CREBBP, PDE4A
27zinc44 249.6EP300, HDAC9, CREB1, CREBBP, PDE4A
28glucose448.5PAX6, EP300, HDAC9, CREBBP, PDE4A
29atp44 289.5PDE4A, CREBBP, CREB1, HDAC9, EP300
30progesterone44 59 28 11 2412.4PDE4A, CREBBP, HDAC9, EP300
31vegf448.3PDE4A, CREBBP, CREB1, HDAC9, EP300, PAX6
32retinoic acid44 249.3PDE4A, CREBBP, CREB1, HDAC9, EP300, PAX6
33cyclic amp44 249.3ADCY9, EP300, HDAC9, CREB1, CREBBP, PDE4A
34serine448.2PDE4A, CREBBP, CREB1, HDAC9, EP300, PAX6

GO Terms for genes affiliated with Rubinstein-Taybi Syndrome

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Sources:
16Gene Ontology
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Cellular components related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase complexGO:0001239.7EP300, CREBBP
2histone deacetylase complexGO:0001189.4HDAC9, SAP18
3transcription factor complexGO:0056679.0EP300, HDAC9, CREB1, CREBBP

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1N-terminal peptidyl-lysine acetylationGO:01807610.1CREBBP, EP300
2regulation of smoothened signaling pathwayGO:00858910.1GAS1, CREBBP
3histone acetylationGO:01657310.0SRCAP, CREBBP
4regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.0EP300, CREBBP
5positive regulation of smoothened signaling pathwayGO:0458809.9KIF7, GAS1
6negative regulation of smoothened signaling pathwayGO:0458799.8GAS1, KIF7
7pituitary gland developmentGO:0219839.4PAX6, CREB1
8modulation by virus of host morphology or physiologyGO:0190489.4SRCAP, EP300, CREB1, CREBBP
9Notch signaling pathwayGO:0072199.3EP300, HDAC9, CREB1, CREBBP

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

idNameGO IDScoreTop Affiliating Genes
1acetyltransferase activityGO:01640710.0EP300, CREBBP
2histone acetyltransferase activityGO:0044029.6SRCAP, EP300, CREBBP
3RNA polymerase II activating transcription factor bindingGO:0011029.5EP300, CREB1, CREBBP
4transcription factor bindingGO:0081348.9CREBBP, HDAC9, EP300, PAX6

Products for genes affiliated with Rubinstein-Taybi Syndrome

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  • Antibodies
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Sources for Rubinstein-Taybi Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet