RSTS1
MCID: RBN001
MIFTS: 64

Rubinstein-Taybi Syndrome (RSTS1) 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

Aliases & Descriptions for Rubinstein-Taybi Syndrome:

Name: Rubinstein-Taybi Syndrome 54 12 71 23 50 24 25 56 29 13 52 42 14 69
Broad Thumb-Hallux Syndrome 12 71 50 25 56 66
Rubinstein Syndrome 12 50 66
Rsts 71 50 25
Broad Thumbs-Hallux Syndrome 23 24
Rubinstein-Taybi Syndrome 1 54 66
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 50
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 66
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 56
Chromosome 16p13.3 Deletion Syndrome, Proximal 69
Proximal Chromosome 16p13.3 Deletion Syndrome 12
Broad Thumbs-Halluces Syndrome 56
Rsts1 66
Rts 25

Characteristics:

Orphanet epidemiological data:

56
rubinstein-taybi syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

HPO:

32
rubinstein-taybi syndrome:
Inheritance autosomal dominant inheritance heterogeneous sporadic
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 180849
Disease Ontology 12 DOID:1933
ICD10 33 Q87.2
MeSH 42 D012415
NCIt 47 C75466
SNOMED-CT 64 157032007 45582004
UMLS via Orphanet 70 C0035934
MESH via Orphanet 43 D012415
ICD10 via Orphanet 34 Q87.2
MedGen 40 C0035934
UMLS 69 C0035934

Summaries for Rubinstein-Taybi Syndrome

OMIM : 54 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 constipation, seizures and hypertelorism. An important gene associated with Rubinstein-Taybi Syndrome is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are Phospholipase-C Pathway and G-Beta Gamma Signaling. The drugs Valproic Acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related phenotypes are craniofacial and embryo

Disease Ontology : 12 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 : 50 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 : 66 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 : 71 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...

GeneReviews: NBK1526

Related Diseases for Rubinstein-Taybi Syndrome

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 82)
id Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 2 12.5
2 ep300-related rubinstein-taybi syndrome 12.3
3 crebbp-related rubinstein-taybi syndrome 12.1
4 rothmund-thomson syndrome 11.7
5 atypical teratoid rhabdoid tumor 11.7
6 chromosome 16p13.3 deletion syndrome 11.5
7 floating-harbor syndrome 11.2
8 coffin-lowry syndrome 11.2
9 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 11.2
10 chromosome 16p13.3 deletion syndrome, proximal 11.1
11 rhabdoid cancer 11.1
12 rett syndrome 10.9
13 rhabdoid tumors, somatic 10.8
14 keloids 10.4
15 cervicitis 10.2
16 scoliosis 10.2
17 necrotic uveal melanoma 10.1 CREBBP EP300
18 medulloblastoma 10.1
19 slipped capital femoral epiphysis 10.1
20 congenital hypothyroidism 10.1
21 sleep apnea 10.1
22 hypothyroidism 10.1
23 obstructive sleep apnea 10.1
24 thyroiditis 10.1
25 neuroblastoma 10.1
26 chiari malformation 10.1
27 generalized epilepsy with febrile seizures plus, type 9 10.1 CREBBP SRCAP
28 hutchinson incisors 10.1 CREB1 CREBBP EP300
29 hurst hallam hockey syndrome 10.0 CREB1 CREBBP EP300
30 hepatitis 9.9
31 polydactyly 9.9
32 retinitis 9.9
33 congenital dislocation of the patella 9.9
34 cornelia de lange syndrome 9.9
35 congenital tracheal stenosis 9.9
36 smith-lemli-opitz syndrome 9.9
37 leukemia 9.9
38 myopia 9.9
39 gastritis 9.9
40 growth hormone deficiency 9.9
41 gastroesophageal reflux 9.9
42 spondylolisthesis 9.9
43 nephrotic syndrome 9.9
44 echolalia 9.9
45 esophagitis 9.9
46 ovarian cyst 9.9
47 intellectual disability 9.9
48 brachydactyly 9.9
49 duane retraction syndrome 9.9
50 retinal detachment 9.9

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



Diseases related to Rubinstein-Taybi Syndrome

Symptoms & Phenotypes for Rubinstein-Taybi Syndrome

Symptoms by clinical synopsis from OMIM:

180849

Clinical features from OMIM:

180849

Human phenotypes related to Rubinstein-Taybi Syndrome:

56 32 (show top 50) (show all 137)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Frequent (79-30%) HP:0002019
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
4 low-set ears 56 32 Very frequent (99-80%) HP:0000369
5 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
6 high palate 56 32 Very frequent (99-80%) HP:0000218
7 ptosis 56 32 Occasional (29-5%) HP:0000508
8 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
9 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
10 hearing impairment 56 32 Occasional (29-5%) HP:0000365
11 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
12 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
13 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
14 carious teeth 56 32 Frequent (79-30%) HP:0000670
15 microcephaly 56 32 Frequent (79-30%) HP:0000252
16 short stature 56 32 Very frequent (99-80%) HP:0004322
17 broad hallux phalanx 56 32 Very frequent (99-80%) HP:0010059
18 broad thumb 56 32 Very frequent (99-80%) HP:0011304
19 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
20 micrognathia 56 32 Frequent (79-30%) HP:0000347
21 irritability 56 32 Frequent (79-30%) HP:0000737
22 strabismus 56 32 Frequent (79-30%) HP:0000486
23 joint hyperflexibility 56 32 Very frequent (99-80%) HP:0005692
24 epicanthus 56 32 Frequent (79-30%) HP:0000286
25 generalized hirsutism 56 32 Frequent (79-30%) HP:0002230
26 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
27 attention deficit hyperactivity disorder 56 32 Frequent (79-30%) HP:0007018
28 anxiety 56 32 Frequent (79-30%) HP:0000739
29 telecanthus 56 32 Very frequent (99-80%) HP:0000506
30 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
31 glaucoma 56 32 Frequent (79-30%) HP:0000501
32 capillary hemangiomas 56 32 Occasional (29-5%) HP:0005306
33 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
34 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
35 polyhydramnios 56 32 Occasional (29-5%) HP:0001561
36 failure to thrive in infancy 56 32 Very frequent (99-80%) HP:0001531
37 convex nasal ridge 56 32 Very frequent (99-80%) HP:0000444
38 nasolacrimal duct obstruction 56 32 Frequent (79-30%) HP:0000579
39 highly arched eyebrow 56 32 Frequent (79-30%) HP:0002553
40 abnormality of the distal phalanx of finger 56 32 Frequent (79-30%) HP:0009832
41 keloids 56 32 Occasional (29-5%) HP:0010562
42 clubbing of toes 56 32 Frequent (79-30%) HP:0100760
43 respiratory distress 32 HP:0002098
44 joint laxity 32 HP:0001388
45 pectus excavatum 32 HP:0000767
46 agenesis of corpus callosum 32 HP:0001274
47 frontal bossing 32 HP:0002007
48 muscular hypotonia 32 HP:0001252
49 hyperreflexia 32 HP:0001347
50 failure to thrive 32 HP:0001508

UMLS symptoms related to Rubinstein-Taybi Syndrome:


constipation, seizures

MGI Mouse Phenotypes related to Rubinstein-Taybi Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 CREBBP EP300 GAS1 LRP4 MECP2
2 embryo MP:0005380 9.5 CREB1 CREBBP EP300 GAS1 LRP4 MECP2
3 respiratory system MP:0005388 9.1 LRP4 MECP2 CREB1 CREBBP EP300 GAS1

Drugs & Therapeutics for Rubinstein-Taybi Syndrome

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
2 Anticonvulsants Phase 2
3 Antimanic Agents Phase 2
4 Central Nervous System Depressants Phase 2
5 GABA Agents Phase 2
6 Histone Deacetylase Inhibitors Phase 2
7 Neurotransmitter Agents Phase 2
8 Psychotropic Drugs Phase 2
9 Tranquilizing Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2
2 Resistant Starch on Glycemic Response in Older Adults Completed NCT00676767

Search NIH Clinical Center for Rubinstein-Taybi Syndrome

Cochrane evidence based reviews: rubinstein-taybi syndrome

Genetic Tests for Rubinstein-Taybi Syndrome

Genetic tests related to Rubinstein-Taybi Syndrome:

id Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome 29 24 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

39
Eye, Heart, Kidney, Brain, Bone, Skin, Uterus

Publications for Rubinstein-Taybi Syndrome

Articles related to Rubinstein-Taybi Syndrome:

(show top 50) (show all 340)
id Title Authors Year
1
Rubinstein-Taybi Syndrome and Epigenetic Alterations. ( 28523540 )
2017
2
Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report. ( 28503387 )
2017
3
The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein-Taybi Syndrome. ( 28395077 )
2017
4
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence. ( 27581590 )
2016
5
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. ( 27648933 )
2016
6
Rubinstein-Taybi syndrome - a window into follicular lymphoma biology. ( 27086936 )
2016
7
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. ( 27311832 )
2016
8
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. ( 26603346 )
2016
9
Electroclinical phenotype in Rubinstein-Taybi syndrome. ( 26867510 )
2016
10
Hysterectomy due to Abnormal Uterine Bleeding in a 15-year Old Girl with Rubinstein-Taybi Syndrome. ( 27924288 )
2016
11
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. ( 26788536 )
2016
12
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. ( 27825976 )
2016
13
Rubinstein Taybi Syndrome with Psychosis. ( 27567660 )
2016
14
Anaesthetic Management of Children with Rubinstein-Taybi Syndrome. ( 27366579 )
2016
15
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. ( 27465822 )
2016
16
One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome. ( 27322716 )
2016
17
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. ( 27011324 )
2016
18
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. ( 27964710 )
2016
19
Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome. ( 27062171 )
2016
20
Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent. ( 27065842 )
2016
21
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. ( 27342041 )
2016
22
A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood. ( 25683362 )
2015
23
Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation. ( 25768348 )
2015
24
Rubinstein-Taybi Syndrome in a 19-years old boy. ( 26707040 )
2015
25
Rubinstein-Taybi syndrome associated with humoral immunodeficiency. ( 25997309 )
2015
26
Pilomatricomas in Rubinstein-Taybi syndrome. ( 25721637 )
2015
27
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report. ( 25596810 )
2015
28
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. ( 25805166 )
2015
29
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome. ( 26275701 )
2015
30
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation. ( 26374735 )
2015
31
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report. ( 26485669 )
2015
32
Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review. ( 25675181 )
2015
33
Rubinstein-Taybi syndrome with agenesis of corpus callosum. ( 26167229 )
2015
34
Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome. ( 26229571 )
2015
35
Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome. ( 26085772 )
2015
36
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. ( 25599811 )
2015
37
Antibody deficiency in Rubinstein-Taybi syndrome. ( 26307339 )
2015
38
Rubinstein-Taybi Syndrome. ( 26143027 )
2015
39
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. ( 26279656 )
2015
40
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. ( 25712426 )
2015
41
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. ( 27617129 )
2015
42
Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome. ( 25861312 )
2015
43
Intestinal malrotation in Rubinstein-Taybi syndrome. ( 26097216 )
2015
44
Keloids: an unwanted spontaneity in rubinstein-taybi syndrome. ( 25814745 )
2015
45
Repetitive behavior in rubinstein-taybi syndrome: parallels with autism spectrum phenomenology. ( 25491025 )
2015
46
Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma. ( 24115570 )
2014
47
A case of Rubinstein-Taybi syndrome and congenital neuroblastoma. ( 24458435 )
2014
48
Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent life-threatening events and neurological deficits. ( 24764247 )
2014
49
Keloids in Rubinstein-Taybi syndrome: a clinical study. ( 25132000 )
2014
50
Childhood glaucoma associated with broad fingers and toes. Diagnosis: Infantile glaucoma with Rubinstein-Taybi syndrome. ( 25427301 )
2014

Variations for Rubinstein-Taybi Syndrome

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

66 (show all 17)
id Symbol AA change Variation ID SNP ID
1 CREBBP p.Arg1378Pro VAR_015578 rs121434626
2 CREBBP p.Glu1278Lys VAR_035080 rs267606752
3 CREBBP p.Thr1447Ile VAR_035081
4 CREBBP p.Tyr1450His VAR_035082
5 CREBBP p.His1470Arg VAR_035083 rs797044860
6 CREBBP p.Arg1664His VAR_035084
7 CREBBP p.Tyr1175Cys VAR_037305 rs28937315
8 CREBBP p.Tyr650Phe VAR_072915
9 CREBBP p.Ala789Thr VAR_072916 rs746728741
10 CREBBP p.Thr910Ala VAR_072917 rs143247685
11 CREBBP p.Glu1278Ala VAR_072918
12 CREBBP p.Asp1406Tyr VAR_072919
13 CREBBP p.Gln1415Pro VAR_072920
14 CREBBP p.Pro1475Thr VAR_072921
15 CREBBP p.Tyr1503Phe VAR_072922
16 CREBBP p.Leu1507Pro VAR_072923
17 CREBBP p.Asp1543Asn VAR_072924

ClinVar genetic disease variations for Rubinstein-Taybi Syndrome:

6 (show top 50) (show all 78)
id Gene Variation Type Significance SNP ID Assembly Location
1 CREBBP NM_004380.2(CREBBP): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434624 GRCh37 Chromosome 16, 3900690: 3900690
2 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh37 Chromosome 16, 3843534: 3843534
3 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh37 Chromosome 16, 3790400: 3790400
4 CREBBP CREBBP, 2-BP DEL, NT5222 deletion Pathogenic
5 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh37 Chromosome 16, 3807895: 3807895
6 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh37 Chromosome 16, 3799632: 3799632
7 CREBBP CREBBP, IVS21, A-T, -2 single nucleotide variant Pathogenic
8 CREBBP NM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh37 Chromosome 16, 3778877: 3778918
9 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh37 Chromosome 16, 3778960: 3778960
10 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh37 Chromosome 16, 3779179: 3779179
11 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh37 Chromosome 16, 3779204: 3779214
12 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh37 Chromosome 16, 3779211: 3779211
13 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh37 Chromosome 16, 3779227: 3779227
14 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh37 Chromosome 16, 3781315: 3781315
15 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh37 Chromosome 16, 3781875: 3781875
16 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh37 Chromosome 16, 3786076: 3786076
17 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh37 Chromosome 16, 3786703: 3786703
18 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh37 Chromosome 16, 3786766: 3786766
19 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh37 Chromosome 16, 3786767: 3786767
20 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh37 Chromosome 16, 3786813: 3786813
21 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh37 Chromosome 16, 3788578: 3788578
22 CREBBP NM_004380.2(CREBBP): c.4281-11C> G single nucleotide variant Likely pathogenic rs587783493 GRCh37 Chromosome 16, 3788684: 3788684
23 CREBBP NM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser) single nucleotide variant Likely pathogenic rs587783492 GRCh37 Chromosome 16, 3789633: 3789633
24 CREBBP NM_004380.2(CREBBP): c.4133+1G> A single nucleotide variant Pathogenic rs587783491 GRCh37 Chromosome 16, 3790399: 3790399
25 CREBBP NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter) single nucleotide variant Pathogenic rs587783490 GRCh37 Chromosome 16, 3790455: 3790455
26 CREBBP NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter) single nucleotide variant Pathogenic rs587783489 GRCh37 Chromosome 16, 3790488: 3790488
27 CREBBP NM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro) single nucleotide variant Likely pathogenic rs587783488 GRCh37 Chromosome 16, 3790511: 3790511
28 CREBBP NM_004380.2(CREBBP): c.3983-2A> G single nucleotide variant Pathogenic rs587783486 GRCh37 Chromosome 16, 3790552: 3790552
29 CREBBP NM_004380.2(CREBBP): c.3914+3G> T single nucleotide variant Likely pathogenic rs587783485 GRCh37 Chromosome 16, 3795275: 3795275
30 CREBBP NM_004380.2(CREBBP): c.3836+1G> A single nucleotide variant Pathogenic rs200782888 GRCh37 Chromosome 16, 3799627: 3799627
31 CREBBP NM_004380.2(CREBBP): c.3779+1G> A single nucleotide variant Pathogenic rs587783483 GRCh37 Chromosome 16, 3801726: 3801726
32 CREBBP NM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter) single nucleotide variant Pathogenic rs587783482 GRCh37 Chromosome 16, 3807374: 3807374
33 CREBBP NM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys) single nucleotide variant Likely pathogenic rs587783481 GRCh37 Chromosome 16, 3807919: 3807919
34 CREBBP NM_004380.2(CREBBP): c.3369+1G> T single nucleotide variant Pathogenic rs587783480 GRCh37 Chromosome 16, 3808854: 3808854
35 CREBBP NM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter) single nucleotide variant Pathogenic rs587783479 GRCh37 Chromosome 16, 3808914: 3808914
36 CREBBP NM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter) single nucleotide variant Pathogenic rs587783475 GRCh37 Chromosome 16, 3820660: 3820660
37 CREBBP NM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs) deletion Pathogenic rs587783473 GRCh37 Chromosome 16, 3820844: 3820845
38 CREBBP NM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter) single nucleotide variant Pathogenic rs587783471 GRCh37 Chromosome 16, 3820916: 3820916
39 CREBBP NM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs) deletion Pathogenic rs587783470 GRCh37 Chromosome 16, 3827649: 3827650
40 CREBBP NM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs) deletion Pathogenic rs587783469 GRCh37 Chromosome 16, 3828099: 3828099
41 CREBBP NM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs) deletion Pathogenic rs587783467 GRCh37 Chromosome 16, 3830735: 3830735
42 CREBBP NM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs) deletion Pathogenic rs587783465 GRCh37 Chromosome 16, 3831291: 3831291
43 CREBBP NM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs587783464 GRCh37 Chromosome 16, 3842042: 3842042
44 CREBBP NM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter) single nucleotide variant Pathogenic rs587783463 GRCh37 Chromosome 16, 3842055: 3842055
45 CREBBP NM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic rs587783461 GRCh37 Chromosome 16, 3843447: 3843447
46 CREBBP NM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs587783460 GRCh37 Chromosome 16, 3843540: 3843540
47 CREBBP NM_004380.2(CREBBP): c.953C> A (p.Ser318Ter) single nucleotide variant Pathogenic rs587783516 GRCh37 Chromosome 16, 3860626: 3860626
48 CREBBP NM_004380.2(CREBBP): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783509 GRCh37 Chromosome 16, 3900498: 3900498
49 CREBBP NM_004380.2(CREBBP): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs587783478 GRCh37 Chromosome 16, 3900780: 3900780
50 CREBBP NM_004380.2(CREBBP): c.299delG (p.Gly100Valfs) deletion Pathogenic rs587783477 GRCh37 Chromosome 16, 3900797: 3900797

Copy number variations for Rubinstein-Taybi Syndrome from CNVD:

7 (show all 14)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13809 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
2 97337 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
3 97338 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
4 97343 16 1 6300000 Deletion CREB-binding Rubinstein-Taybi syndrome
5 97344 16 1 6300000 Deletion gene Rubinstein-Taybi syndrome
6 97345 16 1 6300000 Deletion protein Rubinstein-Taybi syndrome
7 97361 16 1 6300000 Microdeletion Rubinstein-Taybi syndrome
8 97362 16 1 6300000 Microdeletion Rubinstein-Taybi syndrome
9 101412 16 3651083 3771464 Microdeletion Crebbp Rubinstein-Taybi syndrome
10 101413 16 3651083 3771464 Microdeletion Trap1 Rubinstein-Taybi syndrome
11 101433 16 3715056 3870122 Copy number CREBBP Rubinstein-Taybi syndrome
12 101452 16 3726327 3728439 Deletion CREBBP Rubinstein-Taybi syndrome
13 164836 22 39892913 39898247 Deletion EP300 Rubinstein-Taybi syndrome
14 222428 7 15200000 19500000 Microdeletion Rubinstein-Taybi syndrome

Expression for Rubinstein-Taybi Syndrome

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

Pathways for Rubinstein-Taybi Syndrome

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

(show all 27)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 ADCY9 CREB1 CREBBP EP300 GAS1
2
Show member pathways
12.69 ADCY9 CREB1 CREBBP EP300
3 12.17 ADCY9 CREB1 CREBBP EP300
4
Show member pathways
12.12 CREB1 CREBBP EP300
5 12.08 CREB1 CREBBP EP300
6
Show member pathways
12.03 CREB1 CREBBP EP300
7 12.02 CREB1 CREBBP EP300
8
Show member pathways
12.02 ADCY9 CREB1 CREBBP EP300
9
Show member pathways
12 CREBBP EP300 IL11RA
10
Show member pathways
11.98 CREB1 CREBBP EP300
11
Show member pathways
11.86 ADCY9 CREB1 CREBBP EP300
12 11.71 CREB1 CREBBP EP300
13 11.65 CREB1 CREBBP EP300
14 11.58 CREB1 CREBBP EP300
15 11.54 CREB1 CREBBP EP300
16 11.47 CREB1 CREBBP EP300 MECP2
17 11.43 CREBBP EP300 SRCAP
18 11.39 CREB1 CREBBP EP300
19 11.23 CREB1 CREBBP EP300
20 11.2 CREBBP EP300
21
Show member pathways
11.18 CREBBP EP300
22 11.14 CREBBP EP300
23
Show member pathways
11.03 CREB1 CREBBP EP300
24 10.93 CREB1 CREBBP
25 10.9 CREBBP EP300
26 10.89 CREBBP EP300
27 10.37 CREBBP EP300 GAS1

GO Terms for Rubinstein-Taybi Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 histone acetyltransferase complex GO:0000123 8.62 CREBBP EP300

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

id Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.67 CREB1 CREBBP EP300 SRCAP
2 rhythmic process GO:0048511 9.5 CREB1 CREBBP EP300
3 response to hypoxia GO:0001666 9.46 CREB1 CREBBP EP300 MECP2
4 regulation of smoothened signaling pathway GO:0008589 9.4 CREBBP GAS1
5 protein acetylation GO:0006473 9.26 CREBBP EP300
6 N-terminal peptidyl-lysine acetylation GO:0018076 8.96 CREBBP EP300
7 histone acetylation GO:0016573 8.92 CREBBP EP300 MECP2 SRCAP

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.62 CREB1 CREBBP EP300 MECP2
2 transcription cofactor activity GO:0003712 9.43 CREB1 CREBBP EP300
3 acetyltransferase activity GO:0016407 9.37 CREBBP EP300
4 histone acetyltransferase activity GO:0004402 9.33 CREBBP EP300 SRCAP
5 RNA polymerase II activating transcription factor binding GO:0001102 9.13 CREB1 CREBBP EP300
6 peptide N-acetyltransferase activity GO:0034212 8.62 CREBBP EP300

Sources for Rubinstein-Taybi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....