MCID: RBN021
MIFTS: 49

Rubinstein-Taybi Syndrome 1

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases, Mental 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 75
Broad Thumb-Hallux Syndrome 57 75
Rubinstein Syndrome 57 75
Rsts1 57 75
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 57
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 75
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 59
Rubinstein-Taybi Syndrome, Type 1 40
Rubinstein-Taybi Syndrome 73
Rsts 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
rubinstein-taybi syndrome 1:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance sporadic


Classifications:



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)

MalaCards based summary : Rubinstein-Taybi Syndrome 1, also known as broad thumb-hallux syndrome, is related to chromosome 16p13.3 deletion syndrome, proximal and rubinstein-taybi syndrome 2, and has symptoms including constipation and seizures. An important gene associated with Rubinstein-Taybi Syndrome 1 is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are NF-KappaB Family Pathway and Regulation of IFNA signaling. The drugs Valproic Acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone, and related phenotypes are low-set ears and pectus excavatum

UniProtKB/Swiss-Prot : 75 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 11)
# Related Disease Score Top Affiliating Genes
1 chromosome 16p13.3 deletion syndrome, proximal 31.7 CREBBP EP300
2 rubinstein-taybi syndrome 2 11.3
3 neonatal leukemia 9.6 CREBBP EP300
4 human t-cell leukemia virus type 2 9.6 CREBBP EP300
5 human t-cell leukemia virus type 1 9.6 CREBBP EP300
6 leukemia, acute monocytic 9.5 CREBBP EP300
7 bladder squamous cell carcinoma 9.5 CREBBP EP300
8 hypoxia 9.4 CREBBP EP300
9 hematologic cancer 9.3 CREBBP EP300
10 t-cell leukemia 9.2 CREBBP EP300
11 amyotrophic lateral sclerosis 1 9.0 CREBBP EP300

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss
recurrent otitis

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

Abdomen Gastrointestinal:
constipation

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

Skeletal:
delayed skeletal maturation
joint hypermobility

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

Cardiovascular Vascular:
patent ductus arteriosus
capillary hemangiomas

Growth Other:
postnatal growth retardation

Skin Nails Hair Skin:
capillary hemangiomas
single transverse palmar creases
cafe-au-lait spots
keloid formation in surgical scars

Skeletal Limbs:
patellar dislocation

Skin Nails Hair Hair:
hirsutism

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

Skeletal Skull:
parietal foramina
large foramen magnum

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

Neurologic Central Nervous System:
agenesis of corpus callosum
seizures
hyperreflexia
poor coordination
hypotonia
more
Head And Neck Eyes:
ptosis
strabismus
glaucoma
nasolacrimal duct obstruction
long eyelashes
more
Skeletal Spine:
scoliosis
spina bifida occulta

Respiratory:
recurrent respiratory infections

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

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
shawl scrotum

Head And Neck Teeth:
dental crowding
enamel hypoplasia
talon cusps
crossbite
screwdriver permanent incisors
more
Immunology:
recurrent infections
polysaccharide antibody response defect

Skeletal Hands:
syndactyly
polydactyly
fifth finger clinodactyly
single transverse palmar creases
broad thumbs with radial angulation
more
Neurologic Behavioral Psychiatric Manifestations:
short attention span
good social contacts
labile mood

Cardiovascular Heart:
atrial septal defects
ventricular 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

Human phenotypes related to Rubinstein-Taybi Syndrome 1:

32 (show top 50) (show all 117)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 pectus excavatum 32 HP:0000767
3 agenesis of corpus callosum 32 HP:0001274
4 frontal bossing 32 HP:0002007
5 high palate 32 HP:0000218
6 ptosis 32 HP:0000508
7 intellectual disability 32 HP:0001249
8 seizures 32 HP:0001250
9 muscular hypotonia 32 HP:0001252
10 hyperreflexia 32 HP:0001347
11 failure to thrive 32 HP:0001508
12 constipation 32 HP:0002019
13 eeg abnormality 32 HP:0002353
14 scoliosis 32 HP:0002650
15 narrow palate 32 HP:0000189
16 hearing impairment 32 HP:0000365
17 cataract 32 HP:0000518
18 dental malocclusion 32 HP:0000689
19 delayed skeletal maturation 32 HP:0002750
20 wide nasal bridge 32 HP:0000431
21 delayed speech and language development 32 HP:0000750
22 pes planus 32 HP:0001763
23 microcephaly 32 HP:0000252
24 thick eyebrow 32 HP:0000574
25 short stature 32 HP:0004322
26 broad thumb 32 HP:0011304
27 flexion contracture 32 HP:0001371
28 feeding difficulties in infancy 32 HP:0008872
29 stereotypy 32 HP:0000733
30 laryngomalacia 32 HP:0001601
31 arrhythmia 32 HP:0011675
32 micrognathia 32 HP:0000347
33 recurrent upper respiratory tract infections 32 HP:0002788
34 retrognathia 32 HP:0000278
35 patent ductus arteriosus 32 HP:0001643
36 respiratory distress 32 HP:0002098
37 epicanthus 32 HP:0000286
38 cryptorchidism 32 HP:0000028
39 autism 32 HP:0000717
40 postnatal growth retardation 32 HP:0008897
41 low posterior hairline 32 HP:0002162
42 atrial septal defect 32 HP:0001631
43 abnormality of the pinna 32 HP:0000377
44 aganglionic megacolon 32 HP:0002251
45 hypoplastic iliac wing 32 HP:0002866
46 hypospadias 32 HP:0000047
47 deeply set eye 32 HP:0000490
48 clinodactyly of the 5th finger 32 HP:0004209
49 hypoplasia of the maxilla 32 HP:0000327
50 abnormality of the kidney 32 HP:0000077

UMLS symptoms related to Rubinstein-Taybi Syndrome 1:


constipation, seizures

Drugs & Therapeutics for Rubinstein-Taybi Syndrome 1

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

(show all 9)
# 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:


# Name Status NCT ID Phase Drugs
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
2 Resistant Starch on Glycemic Response in Older Adults Completed NCT00676767 Not Applicable

Search NIH Clinical Center for Rubinstein-Taybi Syndrome 1

Genetic Tests for Rubinstein-Taybi Syndrome 1

Anatomical Context for Rubinstein-Taybi Syndrome 1

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

41
Eye, Kidney, Bone, Uterus

Publications for Rubinstein-Taybi Syndrome 1

Articles related to Rubinstein-Taybi Syndrome 1:

# Title Authors Year
1
Rubinstein-Taybi syndrome (broad thumb-hallux syndrome). ( 15748572 )
2004
2
Clinical quiz. Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome). ( 11809612 )
2002

Variations for Rubinstein-Taybi Syndrome 1

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

75 (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
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 1:

6
(show top 50) (show all 510)
# 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.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434624 GRCh38 Chromosome 16, 3850689: 3850689
3 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh37 Chromosome 16, 3843534: 3843534
4 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh38 Chromosome 16, 3793533: 3793533
5 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh37 Chromosome 16, 3790400: 3790400
6 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh38 Chromosome 16, 3740399: 3740399
7 CREBBP CREBBP, 2-BP DEL, NT5222 deletion Pathogenic
8 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh37 Chromosome 16, 3807895: 3807895
9 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh38 Chromosome 16, 3757894: 3757894
10 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh37 Chromosome 16, 3799632: 3799632
11 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh38 Chromosome 16, 3749631: 3749631
12 CREBBP CREBBP, IVS21, A-T, -2 single nucleotide variant Pathogenic
13 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh37 Chromosome 16, 3794894: 3794894
14 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh38 Chromosome 16, 3744893: 3744893
15 CREBBP NM_004380.2(CREBBP): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs587783512 GRCh37 Chromosome 16, 3778599: 3778599
16 CREBBP NM_004380.2(CREBBP): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs587783512 GRCh38 Chromosome 16, 3728598: 3728598
17 CREBBP NM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh37 Chromosome 16, 3778877: 3778918
18 CREBBP NM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh38 Chromosome 16, 3728876: 3728917
19 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh37 Chromosome 16, 3778960: 3778960
20 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh38 Chromosome 16, 3728959: 3728959
21 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh37 Chromosome 16, 3779179: 3779179
22 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh38 Chromosome 16, 3729178: 3729178
23 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh37 Chromosome 16, 3779204: 3779214
24 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh38 Chromosome 16, 3729203: 3729213
25 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh37 Chromosome 16, 3779211: 3779211
26 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh38 Chromosome 16, 3729210: 3729210
27 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh37 Chromosome 16, 3779227: 3779227
28 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh38 Chromosome 16, 3729226: 3729226
29 CREBBP NM_004380.2(CREBBP): c.5800T> C (p.Ser1934Pro) single nucleotide variant Uncertain significance rs587783504 GRCh37 Chromosome 16, 3779248: 3779248
30 CREBBP NM_004380.2(CREBBP): c.5800T> C (p.Ser1934Pro) single nucleotide variant Uncertain significance rs587783504 GRCh38 Chromosome 16, 3729247: 3729247
31 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh37 Chromosome 16, 3781315: 3781315
32 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh38 Chromosome 16, 3731314: 3731314
33 CREBBP NM_004380.2(CREBBP): c.5039_5041delCCT (p.Ser1680del) deletion Likely pathogenic rs587783502 GRCh37 Chromosome 16, 3781324: 3781326
34 CREBBP NM_004380.2(CREBBP): c.5039_5041delCCT (p.Ser1680del) deletion Likely pathogenic rs587783502 GRCh38 Chromosome 16, 3731323: 3731325
35 CREBBP NM_004380.2(CREBBP): c.4894T> C (p.Phe1632Leu) single nucleotide variant Uncertain significance rs587783501 GRCh37 Chromosome 16, 3781471: 3781471
36 CREBBP NM_004380.2(CREBBP): c.4894T> C (p.Phe1632Leu) single nucleotide variant Uncertain significance rs587783501 GRCh38 Chromosome 16, 3731470: 3731470
37 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh37 Chromosome 16, 3781875: 3781875
38 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh38 Chromosome 16, 3731874: 3731874
39 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh37 Chromosome 16, 3786076: 3786076
40 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh38 Chromosome 16, 3736075: 3736075
41 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh37 Chromosome 16, 3786703: 3786703
42 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh38 Chromosome 16, 3736702: 3736702
43 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh37 Chromosome 16, 3786766: 3786766
44 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh38 Chromosome 16, 3736765: 3736765
45 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh37 Chromosome 16, 3786767: 3786767
46 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh38 Chromosome 16, 3736766: 3736766
47 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh37 Chromosome 16, 3786813: 3786813
48 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh38 Chromosome 16, 3736812: 3736812
49 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh37 Chromosome 16, 3788578: 3788578
50 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh38 Chromosome 16, 3738577: 3738577

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 73)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 CREBBP EP300
2
Show member pathways
12.34 CREBBP EP300
3
Show member pathways
12.28 CREBBP EP300
4
Show member pathways
12.26 CREBBP EP300
5
Show member pathways
12.25 CREBBP EP300
6 12.21 CREBBP EP300
7
Show member pathways
12.2 CREBBP EP300
8
Show member pathways
12.19 CREBBP EP300
9
Show member pathways
12.18 CREBBP EP300
10
Show member pathways
12.14 CREBBP EP300
11
Show member pathways
12.14 CREBBP EP300
12 12.14 CREBBP EP300
13 12.13 CREBBP EP300
14 12.09 CREBBP EP300
15
Show member pathways
12.07 CREBBP EP300
16
Show member pathways
12.05 CREBBP EP300
17
Show member pathways
12.02 CREBBP EP300
18 12.02 CREBBP EP300
19 12.02 CREBBP EP300
20
Show member pathways
11.97 CREBBP EP300
21 11.96 CREBBP EP300
22
Show member pathways
11.95 CREBBP EP300
23
Show member pathways
11.94 CREBBP EP300
24
Show member pathways
11.93 CREBBP EP300
25
Show member pathways
11.92 CREBBP EP300
26 11.91 CREBBP EP300
27
Show member pathways
11.9 CREBBP EP300
28 11.89 CREBBP EP300
29
Show member pathways
11.83 CREBBP EP300
30 11.81 CREBBP EP300
31 11.81 CREBBP EP300
32 11.79 CREBBP EP300
33
Show member pathways
11.78 CREBBP EP300
34
Show member pathways
11.76 CREBBP EP300
35 11.74 CREBBP EP300
36 11.69 CREBBP EP300
37 11.67 CREBBP EP300
38
Show member pathways
11.64 CREBBP EP300
39 11.62 CREBBP EP300
40 11.61 CREBBP EP300
41 11.58 CREBBP EP300
42
Show member pathways
11.57 CREBBP EP300
43 11.56 CREBBP EP300
44 11.56 CREBBP EP300
45 11.53 CREBBP EP300
46 11.52 CREBBP EP300
47 11.5 CREBBP EP300
48 11.49 CREBBP EP300
49 11.48 CREBBP EP300
50
Show member pathways
11.46 CREBBP EP300

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 histone acetyltransferase complex GO:0000123 8.62 CREBBP EP300

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

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

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.49 CREBBP EP300
2 transcription coactivator activity GO:0003713 9.48 CREBBP EP300
3 transferase activity, transferring acyl groups GO:0016746 9.46 CREBBP EP300
4 transcription coregulator activity GO:0003712 9.43 CREBBP EP300
5 p53 binding GO:0002039 9.4 CREBBP EP300
6 damaged DNA binding GO:0003684 9.37 CREBBP EP300
7 RNA polymerase II transcription factor binding GO:0001085 9.32 CREBBP EP300
8 histone acetyltransferase activity GO:0004402 9.26 CREBBP EP300
9 RNA polymerase II activating transcription factor binding GO:0001102 9.16 CREBBP EP300
10 acetyltransferase activity GO:0016407 8.96 CREBBP EP300
11 peptide N-acetyltransferase activity GO:0034212 8.62 CREBBP EP300

Sources for Rubinstein-Taybi Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....