RSTS1
MCID: RBN021
MIFTS: 56

Rubinstein-Taybi Syndrome 1 (RSTS1)

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

Aliases & Classifications for Rubinstein-Taybi Syndrome 1

MalaCards integrated aliases for Rubinstein-Taybi Syndrome 1:

Name: Rubinstein-Taybi Syndrome 1 57 72 29 6
Broad Thumb-Hallux Syndrome 57 72 6
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 57 72
Rubinstein Syndrome 57 72
Rsts1 57 72
Rsts 57 72
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 58
Rubinstein-Taybi Syndrome, Type 1 39
Rubinstein-Taybi Syndrome 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation in most cases
variable severity
incidence of 1 in 100,000 to 125,000 at birth
truncating mutations in crebbp found in 10% of patients


HPO:

31
rubinstein-taybi syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous sporadic
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 180849
OMIM Phenotypic Series 57 PS180849
MeSH 44 D012415
ICD10 via Orphanet 33 Q87.2
Orphanet 58 ORPHA353277
SNOMED-CT via HPO 68 102594003 102889008 103276001 more
UMLS 70 C0035934

Summaries for Rubinstein-Taybi Syndrome 1

OMIM® : 57 Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006). Floating-Harbor syndrome (136140), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (611421), a coactivator for CREBBP. (180849) (Updated 20-May-2021)

MalaCards based summary : Rubinstein-Taybi Syndrome 1, also known as broad thumb-hallux syndrome, is related to otopalatodigital syndrome, type i and chromosome 16p13.3 deletion syndrome, proximal, and has symptoms including seizures and constipation. An important gene associated with Rubinstein-Taybi Syndrome 1 is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are nNOS Signaling in Skeletal Muscle and G-Beta Gamma Signaling. The drugs Valproic acid and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include eye, testis and brain, and related phenotypes are intellectual disability and high palate

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Rubinstein-Taybi Syndrome 1

Diseases in the Rubinstein Taybi Like Syndrome family:

Rubinstein-Taybi Syndrome 1 Rubinstein-Taybi Syndrome 2

Diseases related to Rubinstein-Taybi Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type i 29.9 EP300 CREBBP
2 chromosome 16p13.3 deletion syndrome, proximal 29.8 EP300 CREBBP
3 menke-hennekam syndrome 1 11.3
4 refractive error 10.5
5 alopecia 10.5
6 keloid disorder 10.5
7 keloid formation 10.1
8 erythrokeratoderma ''en cocardes'' 10.1
9 rare genetic skin disease 10.1
10 rubinstein-taybi syndrome 2 10.1
11 alacrima, achalasia, and mental retardation syndrome 10.1
12 triiodothyronine receptor auxiliary protein 9.9
13 menke-hennekam syndrome 9.8 EP300 CREBBP
14 hennekam syndrome 9.8 EP300 CREBBP
15 thumb deformity 9.8 EP300 CREBBP
16 human t-cell leukemia virus type 2 9.8 EP300 CREBBP
17 human t-cell leukemia virus type 1 9.8 EP300 CREBBP
18 rare genetic intellectual disability 9.8 EP300 CREBBP
19 nut midline carcinoma 9.8 EP300 CREBBP
20 leukemia, acute monocytic 9.8 EP300 CREBBP
21 kabuki syndrome 1 9.8 EP300 CREBBP
22 chromosomal deletion syndrome 9.8 EP300 CREBBP
23 bladder urothelial carcinoma 9.8 EP300 CREBBP
24 chromosomal disease 9.7 EP300 CREBBP
25 hypoxia 9.7 EP300 CREBBP
26 cornelia de lange syndrome 9.7 EP300 CREBBP
27 lung squamous cell carcinoma 9.7 EP300 CREBBP
28 t-cell lymphoblastic leukemia/lymphoma 9.7 EP300 CREBBP
29 autosomal dominant non-syndromic intellectual disability 9.6 EP300 CREBBP
30 diffuse large b-cell lymphoma 9.6 EP300 CREBBP
31 hematologic cancer 9.5 EP300 CREBBP

Graphical network of the top 20 diseases related to Rubinstein-Taybi Syndrome 1:



Diseases related to Rubinstein-Taybi Syndrome 1

Symptoms & Phenotypes for Rubinstein-Taybi Syndrome 1

Human phenotypes related to Rubinstein-Taybi Syndrome 1:

58 31 (show top 50) (show all 195)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
5 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
6 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
9 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
10 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
11 postnatal microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0005484
12 facial grimacing 58 31 hallmark (90%) Very frequent (99-80%) HP:0000273
13 broad hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010055
14 prominent nasal septum 58 31 hallmark (90%) Very frequent (99-80%) HP:0005322
15 widened distal phalanges 58 31 hallmark (90%) Very frequent (99-80%) HP:0006200
16 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
17 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
18 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
19 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
20 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
21 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
22 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
23 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
24 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
25 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
26 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
27 obstructive sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002870
28 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
29 impulsivity 58 31 frequent (33%) Frequent (79-30%) HP:0100710
30 broad distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009836
31 impaired social interactions 58 31 frequent (33%) Frequent (79-30%) HP:0000735
32 agoraphobia 58 31 frequent (33%) Frequent (79-30%) HP:0000756
33 mood changes 58 31 frequent (33%) Frequent (79-30%) HP:0001575
34 abnormal proximal phalanx morphology of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009834
35 low hanging columella 58 31 frequent (33%) Frequent (79-30%) HP:0009765
36 panic attack 58 31 frequent (33%) Frequent (79-30%) HP:0025269
37 laryngeal cartilage malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008752
38 talon cusp 58 31 frequent (33%) Frequent (79-30%) HP:0011087
39 social and occupational deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0007086
40 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
41 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
42 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
43 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
44 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
45 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
46 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
47 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
48 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
49 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
50 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
hyperreflexia
poor coordination
hypotonia
more
Skeletal Spine:
scoliosis
spina bifida occulta

Abdomen Gastrointestinal:
constipation

Head And Neck Mouth:
narrow palate
high-arched palate
small opening of the mouth

Skeletal Feet:
pes planus
plantar crease between first and second toes
broad great toes

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
retrognathia
micrognathia
low anterior hairline
hypoplastic maxilla
grimacing or unusual smile with almost closing of the eyes

Head And Neck Teeth:
dental crowding
enamel hypoplasia
talon cusps
crossbite
screwdriver permanent incisors
more
Skeletal Limbs:
patellar dislocation

Immunology:
recurrent infections
polysaccharide antibody response defect

Neurologic Behavioral Psychiatric Manifestations:
short attention span
good social contacts
labile mood

Skeletal Hands:
polydactyly
syndactyly
fifth finger clinodactyly
single transverse palmar creases
broad thumbs with radial angulation
more
Skin Nails Hair Skin:
single transverse palmar creases
cafe-au-lait spots
capillary hemangiomas
keloid formation in surgical scars

Growth Weight:
obesity after puberty

Skeletal Pelvis:
small, flared iliac wings

Laboratory Abnormalities:
ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by fish
a small minority of patients have translocations and inversions involving 16p13.3

Head And Neck Head:
frontal bossing
microcephaly
large anterior fontanel
late closure of fontanel

Head And Neck Eyes:
ptosis
strabismus
glaucoma
nasolacrimal duct obstruction
long eyelashes
more
Skeletal:
delayed skeletal maturation
joint hypermobility

Respiratory:
recurrent respiratory infections

Growth Height:
short stature
average adult male height 153 cm
average adult female height 147 cm

Growth Other:
postnatal growth retardation

Head And Neck Ears:
low-set ears
hearing loss
recurrent otitis

Cardiovascular Vascular:
patent ductus arteriosus
capillary hemangiomas

Genitourinary External Genitalia Male:
hypospadias
shawl scrotum

Skin Nails Hair Hair:
hirsutism

Skeletal Skull:
parietal foramina
large foramen magnum

Head And Neck Nose:
deviated nasal septum
broad nasal bridge
beaked nose

Cardiovascular Heart:
ventricular septal defects
atrial septal defects

Chest Ribs Sternum Clavicles And Scapulae:
sternal anomalies

Neoplasia:
increased risk of tumor formation, especially of the head
increased risk of leukemia

Clinical features from OMIM®:

180849 (Updated 20-May-2021)

UMLS symptoms related to Rubinstein-Taybi Syndrome 1:


seizures; constipation

Drugs & Therapeutics for Rubinstein-Taybi Syndrome 1

Drugs for Rubinstein-Taybi Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2 Psychotropic Drugs Phase 2
3 Anticonvulsants Phase 2
4 Neurotransmitter Agents Phase 2
5 Histone Deacetylase Inhibitors Phase 2
6 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
2 Phase I/IIa, Open-Label, Dose-Escalation Study of Safety and Tolerability of Intravitreal RST-001 in Patients With Advanced Retinitis Pigmentosa (RP) Active, not recruiting NCT02556736 Phase 1, Phase 2 RST-001
3 Strategies to Increase the Identification, Genetic Counseling Referral and Genetic Testing for Women at Risk for Hereditary Breast and/or Ovarian Cancer Completed NCT02786147
4 Mechanisms and Functional Outcomes of Exercise Progression Models in the Elderly Completed NCT01899586
5 A Comparison of Available Rapid Streptococcus A Tests in Community Clinics in Israel: Accuracy, Ease of Use and Acceptability. Completed NCT00535093
6 Pediatric Emergency Front of the Neck Access (eFONA): Assessing a Novel Experiential Learning Approach Completed NCT03576352
7 Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants. Recruiting NCT04122742
8 Effects of High-intensity Interval Training Combined With Post-exercise Protein Supplementation on Cardiorespiratory Fitness in Untrained Individuals: a Double-blind Placebo-controlled Trial Recruiting NCT04359342
9 Heart Failure and Regional Specific Exercise Training Stimulus Withdrawn NCT02077426

Search NIH Clinical Center for Rubinstein-Taybi Syndrome 1

Genetic Tests for Rubinstein-Taybi Syndrome 1

Genetic tests related to Rubinstein-Taybi Syndrome 1:

# Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome 1 29 CREBBP EP300

Anatomical Context for Rubinstein-Taybi Syndrome 1

MalaCards organs/tissues related to Rubinstein-Taybi Syndrome 1:

40
Eye, Testis, Brain, Kidney, Uterus, Heart, Lung

Publications for Rubinstein-Taybi Syndrome 1

Articles related to Rubinstein-Taybi Syndrome 1:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. 57 6
25805166 2015
2
Inheritance and variable expression in Rubinstein-Taybi syndrome. 57 6
20684013 2010
3
Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 57 6
18792986 2008
4
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 6 57
17855048 2007
5
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 6 57
15706485 2005
6
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. 57 6
12114483 2002
7
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. 57 6
7630403 1995
8
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma. 6
29551561 2018
9
Genome-wide analysis of pediatric-type follicular lymphoma reveals low genetic complexity and recurrent alterations of TNFRSF14 gene. 6
27257180 2016
10
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
11
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. 6
27257017 2016
12
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 6
26619011 2016
13
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 6
26486927 2016
14
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. 6
26788536 2016
15
Exome-level comparison of primary well-differentiated neuroendocrine tumors and their cell lines. 6
26087898 2015
16
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
17
Growth charts for individuals with Rubinstein-Taybi syndrome. 57
24989455 2014
18
Whole exome sequencing of adenoid cystic carcinoma. 6
23778141 2013
19
The mutational landscape of adenoid cystic carcinoma. 6
23685749 2013
20
The genomic landscape of hypodiploid acute lymphoblastic leukemia. 6
23334668 2013
21
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome. 6
21984751 2012
22
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. 6
21932317 2011
23
Adults with Rubinstein-Taybi syndrome. 57
21671385 2011
24
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. 57
20717166 2011
25
Rubinstein-Taybi syndrome in first cousins with different de novo mutations. 6
20358623 2010
26
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. 57
20014264 2010
27
Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis. 57
19852432 2009
28
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. 57
17473832 2007
29
Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. 57
17318847 2007
30
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. 6
17052327 2006
31
Rubinstein-Taybi syndrome. 57
16868563 2006
32
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 57
16783566 2006
33
A transcription factor-binding domain of the coactivator CBP is essential for long-term memory and the expression of specific target genes. 6
16980541 2006
34
Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. 57
16913274 2006
35
Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. 6
16359492 2005
36
Rubinstein-Taybi syndrome medical guidelines. 57
12749047 2003
37
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 6
12566391 2003
38
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. 6
12070251 2002
39
Premature thelarche in Rubinstein-Taybi syndrome. 57
11932997 2002
40
Human diseases with underlying defects in chromatin structure and modification. 57
11673406 2001
41
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. 6
11331617 2001
42
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. 57
10699051 2000
43
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. 57
10573006 1999
44
Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. 57
10232744 1999
45
Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. 57
9949198 1999
46
Thyroid function in Rubinstein-Taybi syndrome. 57
9329350 1997
47
Patellar dislocation in Rubenstein-Taybi syndrome. 57
9382141 1997
48
Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. 57
9132490 1997
49
The CBP co-activator is a histone acetyltransferase. 6
8967953 1996
50
Vascular ring leading to tracheoesophageal compression in a patient with Rubinstein-Taybi syndrome. 57
8835330 1995

Variations for Rubinstein-Taybi Syndrome 1

ClinVar genetic disease variations for Rubinstein-Taybi Syndrome 1:

6 (show top 50) (show all 441)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CREBBP CREBBP, 2-BP DEL, NT5222 Deletion Pathogenic 9431 GRCh37:
GRCh38:
2 CREBBP NC_000016.9:g.(?_3799608)_(3821007_?)dup Duplication Pathogenic 583641 GRCh37: 16:3799608-3821007
GRCh38: 16:3749607-3771006
3 CREBBP GRCh37/hg19 16p13.3(chr16:3794894-3795355) copy number loss Pathogenic 619247 GRCh37: 16:3794894-3795355
GRCh38:
4 CREBBP NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter) SNV Pathogenic 9428 rs121434624 GRCh37: 16:3900690-3900690
GRCh38: 16:3850689-3850689
5 CREBBP NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter) SNV Pathogenic 9429 rs121434625 GRCh37: 16:3843534-3843534
GRCh38: 16:3793533-3793533
6 CREBBP NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) SNV Pathogenic 9430 rs121434626 GRCh37: 16:3790400-3790400
GRCh38: 16:3740399-3740399
7 CREBBP NM_004380.3(CREBBP):c.3837-2A>T SNV Pathogenic 9434 rs1567277287 GRCh37: 16:3795357-3795357
GRCh38: 16:3745356-3745356
8 CREBBP NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter) SNV Pathogenic 158334 rs587783460 GRCh37: 16:3843540-3843540
GRCh38: 16:3793539-3793539
9 CREBBP NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter) SNV Pathogenic 158337 rs587783463 GRCh37: 16:3842055-3842055
GRCh38: 16:3792054-3792054
10 CREBBP NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) SNV Pathogenic 158338 rs587783464 GRCh37: 16:3842042-3842042
GRCh38: 16:3792041-3792041
11 CREBBP NM_004380.3(CREBBP):c.1590del (p.Asn530fs) Deletion Pathogenic 158339 rs587783465 GRCh37: 16:3831291-3831291
GRCh38: 16:3781290-3781290
12 CREBBP NM_004380.2(CREBBP):c.(?_-23)_85+?del Deletion Pathogenic 210766 GRCh37: 16:3929833-3929940
GRCh38: 16:3879832-3879939
13 CREBBP NG_009873.1:g.(?_5000)_(160068_?)del Deletion Pathogenic 375635 GRCh37: 16:3775054-3930122
GRCh38: 16:3725053-3880121
14 CREBBP NM_004380.3(CREBBP):c.1821del (p.Lys607fs) Deletion Pathogenic 158341 rs587783467 GRCh37: 16:3830735-3830735
GRCh38: 16:3780734-3780734
15 CREBBP NM_004380.3(CREBBP):c.2026del (p.Gln676fs) Deletion Pathogenic 158344 rs587783469 GRCh37: 16:3828099-3828099
GRCh38: 16:3778098-3778098
16 CREBBP NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs) Deletion Pathogenic 158345 rs587783470 GRCh37: 16:3827649-3827650
GRCh38: 16:3777648-3777649
17 CREBBP NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter) SNV Pathogenic 158346 rs587783471 GRCh37: 16:3820916-3820916
GRCh38: 16:3770915-3770915
18 CREBBP NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter) SNV Pathogenic 158351 rs587783475 GRCh37: 16:3820660-3820660
GRCh38: 16:3770659-3770659
19 CREBBP NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter) SNV Pathogenic 158352 rs587783476 GRCh37: 16:3900810-3900810
GRCh38: 16:3850809-3850809
20 CREBBP NM_004380.3(CREBBP):c.299del (p.Gly100fs) Deletion Pathogenic 158353 rs587783477 GRCh37: 16:3900797-3900797
GRCh38: 16:3850796-3850796
21 CREBBP NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter) SNV Pathogenic 158354 rs587783478 GRCh37: 16:3900780-3900780
GRCh38: 16:3850779-3850779
22 CREBBP NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter) SNV Pathogenic 158355 rs587783479 GRCh37: 16:3808914-3808914
GRCh38: 16:3758913-3758913
23 CREBBP NM_001079846.1(CREBBP):c.2488_2489TC[2] (p.Leu831fs) Microsatellite Pathogenic 158348 rs587783473 GRCh37: 16:3820844-3820845
GRCh38: 16:3770843-3770844
24 CREBBP NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter) SNV Pathogenic 158358 rs587783482 GRCh37: 16:3807374-3807374
GRCh38: 16:3757373-3757373
25 CREBBP NM_004380.3(CREBBP):c.3836+1G>A SNV Pathogenic 158361 rs200782888 GRCh37: 16:3799627-3799627
GRCh38: 16:3749626-3749626
26 CREBBP NM_004380.3(CREBBP):c.3983-2A>G SNV Pathogenic 158364 rs587783486 GRCh37: 16:3790552-3790552
GRCh38: 16:3740551-3740551
27 CREBBP NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter) SNV Pathogenic 158367 rs587783489 GRCh37: 16:3790488-3790488
GRCh38: 16:3740487-3740487
28 CREBBP NM_004380.3(CREBBP):c.4133+1G>A SNV Pathogenic 158369 rs587783491 GRCh37: 16:3790399-3790399
GRCh38: 16:3740398-3740398
29 CREBBP NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys) SNV Pathogenic 158377 rs587783497 GRCh37: 16:3786703-3786703
GRCh38: 16:3736702-3736702
30 CREBBP NM_004380.3(CREBBP):c.4689del (p.Lys1565fs) Deletion Pathogenic 158380 rs587783499 GRCh37: 16:3786076-3786076
GRCh38: 16:3736075-3736075
31 CREBBP NM_004380.3(CREBBP):c.4792del (p.Ser1598fs) Deletion Pathogenic 158382 rs587783500 GRCh37: 16:3781875-3781875
GRCh38: 16:3731874-3731874
32 CREBBP NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter) SNV Pathogenic 158388 rs587783505 GRCh37: 16:3779227-3779227
GRCh38: 16:3729226-3729226
33 CREBBP NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs) Deletion Pathogenic 158390 rs587783506 GRCh37: 16:3779204-3779214
GRCh38: 16:3729203-3729213
34 CREBBP NM_001079846.1(CREBBP):c.5723del (p.Pro1908fs) Deletion Pathogenic 158391 rs587783507 GRCh37: 16:3779211-3779211
GRCh38: 16:3729210-3729210
35 CREBBP NM_004380.3(CREBBP):c.5869del (p.Glu1957fs) Deletion Pathogenic 158392 rs587783508 GRCh37: 16:3779179-3779179
GRCh38: 16:3729178-3729178
36 CREBBP NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter) SNV Pathogenic 158393 rs587783509 GRCh37: 16:3900498-3900498
GRCh38: 16:3850497-3850497
37 CREBBP NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter) SNV Pathogenic 158394 rs587783510 GRCh37: 16:3778960-3778960
GRCh38: 16:3728959-3728959
38 CREBBP NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter) SNV Pathogenic 158374 rs147688139 GRCh37: 16:3786813-3786813
GRCh38: 16:3736812-3736812
39 CREBBP NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp) SNV Pathogenic 158375 rs587783495 GRCh37: 16:3786767-3786767
GRCh38: 16:3736766-3736766
40 CREBBP NM_004380.3(CREBBP):c.86-2A>C SNV Pathogenic 158402 rs587783515 GRCh37: 16:3901012-3901012
GRCh38: 16:3851011-3851011
41 CREBBP NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter) SNV Pathogenic 158403 rs587783516 GRCh37: 16:3860626-3860626
GRCh38: 16:3810625-3810625
42 CREBBP NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs) Duplication Pathogenic 210786 rs797045500 GRCh37: 16:3778630-3778631
GRCh38: 16:3728629-3728630
43 CREBBP NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs) Duplication Pathogenic 210789 rs797045502 GRCh37: 16:3860750-3860751
GRCh38: 16:3810749-3810750
44 CREBBP NM_004380.3(CREBBP):c.2178dup (p.Met727fs) Duplication Pathogenic 210769 rs797045483 GRCh37: 16:3824674-3824675
GRCh38: 16:3774673-3774674
45 CREBBP NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter) SNV Pathogenic 210775 rs797045489 GRCh37: 16:3807983-3807983
GRCh38: 16:3757982-3757982
46 CREBBP NM_004380.3(CREBBP):c.282dup (p.Val95fs) Duplication Pathogenic 210772 rs797045486 GRCh37: 16:3900813-3900814
GRCh38: 16:3850812-3850813
47 CREBBP NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs) Insertion Pathogenic 210784 rs797045498 GRCh37: 16:3779111-3779112
GRCh38: 16:3729110-3729111
48 CREBBP NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter) SNV Pathogenic 210781 rs797045495 GRCh37: 16:3781338-3781338
GRCh38: 16:3731337-3731337
49 CREBBP NM_004380.3(CREBBP):c.86-1G>T SNV Pathogenic 210790 rs11644721 GRCh37: 16:3901011-3901011
GRCh38: 16:3851010-3851010
50 CREBBP NM_001079846.1(CREBBP):c.2565_2576delinsCC (p.Ser856fs) Indel Pathogenic 210770 rs797045484 GRCh37: 16:3820761-3820772
GRCh38: 16:3770760-3770771

UniProtKB/Swiss-Prot genetic disease variations for Rubinstein-Taybi Syndrome 1:

72 (show all 17)
# 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 rs155547349
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 rs105752019
17 CREBBP p.Asp1543Asn VAR_072924

Expression for Rubinstein-Taybi Syndrome 1

Search GEO for disease gene expression data for Rubinstein-Taybi Syndrome 1.

Pathways for Rubinstein-Taybi Syndrome 1

Pathways related to Rubinstein-Taybi Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 EP300 CREBBP
2
Show member pathways
12.33 EP300 CREBBP
3
Show member pathways
12.26 EP300 CREBBP
4
Show member pathways
12.25 EP300 CREBBP
5
Show member pathways
12.24 EP300 CREBBP
6 12.23 EP300 CREBBP
7
Show member pathways
12.19 EP300 CREBBP
8
Show member pathways
12.15 EP300 CREBBP
9 12.14 EP300 CREBBP
10
Show member pathways
12.13 EP300 CREBBP
11 12.09 EP300 CREBBP
12
Show member pathways
12.08 EP300 CREBBP
13 12.07 EP300 CREBBP
14 12.06 EP300 CREBBP
15
Show member pathways
12.05 EP300 CREBBP
16 12.03 EP300 CREBBP
17
Show member pathways
11.99 EP300 CREBBP
18 11.98 EP300 CREBBP
19
Show member pathways
11.97 EP300 CREBBP
20
Show member pathways
11.97 EP300 CREBBP
21
Show member pathways
11.95 EP300 CREBBP
22
Show member pathways
11.94 EP300 CREBBP
23
Show member pathways
11.94 EP300 CREBBP
24 11.93 EP300 CREBBP
25 11.91 EP300 CREBBP
26
Show member pathways
11.91 EP300 CREBBP
27 11.9 EP300 CREBBP
28
Show member pathways
11.83 EP300 CREBBP
29 11.82 EP300 CREBBP
30 11.81 EP300 CREBBP
31
Show member pathways
11.79 EP300 CREBBP
32 11.77 EP300 CREBBP
33
Show member pathways
11.72 EP300 CREBBP
34 11.72 EP300 CREBBP
35 11.71 EP300 CREBBP
36 11.65 EP300 CREBBP
37
Show member pathways
11.64 EP300 CREBBP
38 11.63 EP300 CREBBP
39 11.62 EP300 CREBBP
40
Show member pathways
11.58 EP300 CREBBP
41 11.57 EP300 CREBBP
42 11.56 EP300 CREBBP
43 11.54 EP300 CREBBP
44 11.53 EP300 CREBBP
45 11.51 EP300 CREBBP
46 11.49 EP300 CREBBP
47 11.48 EP300 CREBBP
48
Show member pathways
11.47 EP300 CREBBP
49
Show member pathways
11.47 EP300 CREBBP
50 11.46 EP300 CREBBP

GO Terms for Rubinstein-Taybi Syndrome 1

Cellular components related to Rubinstein-Taybi Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.96 EP300 CREBBP
2 histone acetyltransferase complex GO:0000123 8.62 EP300 CREBBP

Biological processes related to Rubinstein-Taybi Syndrome 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein phosphopantetheinylation GO:0018215 9.57 EP300 CREBBP
2 response to hypoxia GO:0001666 9.56 EP300 CREBBP
3 rhythmic process GO:0048511 9.55 EP300 CREBBP
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.54 EP300 CREBBP
5 Notch signaling pathway GO:0007219 9.52 EP300 CREBBP
6 regulation of cellular response to heat GO:1900034 9.51 EP300 CREBBP
7 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.49 EP300 CREBBP
8 cellular response to UV GO:0034644 9.48 EP300 CREBBP
9 positive regulation of type I interferon production GO:0032481 9.46 EP300 CREBBP
10 positive regulation of Notch signaling pathway GO:0045747 9.43 EP300 CREBBP
11 histone acetylation GO:0016573 9.4 EP300 CREBBP
12 protein destabilization GO:0031648 9.37 EP300 CREBBP
13 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.32 EP300 CREBBP
14 beta-catenin-TCF complex assembly GO:1904837 9.26 EP300 CREBBP
15 positive regulation of transcription of Notch receptor target GO:0007221 9.16 EP300 CREBBP
16 protein acetylation GO:0006473 8.96 EP300 CREBBP
17 N-terminal peptidyl-lysine acetylation GO:0018076 8.62 EP300 CREBBP

Molecular functions related to Rubinstein-Taybi Syndrome 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.51 EP300 CREBBP
2 transcription coactivator activity GO:0003713 9.49 EP300 CREBBP
3 transferase activity, transferring acyl groups GO:0016746 9.48 EP300 CREBBP
4 transcription coregulator activity GO:0003712 9.46 EP300 CREBBP
5 p53 binding GO:0002039 9.43 EP300 CREBBP
6 chromatin DNA binding GO:0031490 9.4 EP300 CREBBP
7 damaged DNA binding GO:0003684 9.37 EP300 CREBBP
8 RNA polymerase II transcription factor binding GO:0001085 9.32 EP300 CREBBP
9 RNA polymerase II activating transcription factor binding GO:0001102 9.26 EP300 CREBBP
10 histone acetyltransferase activity GO:0004402 9.16 EP300 CREBBP
11 acetyltransferase activity GO:0016407 8.96 EP300 CREBBP
12 peptide-lysine-N-acetyltransferase activity GO:0061733 8.62 EP300 CREBBP

Sources for Rubinstein-Taybi Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....