RSTS1
MCID: RBN021
MIFTS: 48

Rubinstein-Taybi Syndrome 1 (RSTS1)

Categories: Bone diseases, Cancer 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 58 76 6
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 58 76
Broad Thumb-Hallux Syndrome 58 76
Rubinstein Syndrome 58 76
Rsts1 58 76
Rsts 58 76
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 60
Rubinstein-Taybi Syndrome, Type 1 41
Rubinstein-Taybi Syndrome 74

Characteristics:

OMIM:

58
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:

33
rubinstein-taybi syndrome 1:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 58 180849
MeSH 45 D012415
ICD10 via Orphanet 35 Q87.2
Orphanet 60 ORPHA353277
SNOMED-CT via HPO 70 102594003 102889008 103276001 more
UMLS 74 C0035934

Summaries for Rubinstein-Taybi Syndrome 1

OMIM : 58 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 thumbs and great toes, characteristic facies, and mental retardation, is related to chromosome 16p13.3 deletion syndrome, proximal and rubinstein-taybi syndrome 2, 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 NF-KappaB Family Pathway and ErbB signaling pathway. Affiliated tissues include eye, kidney and brain, and related phenotypes are hypertelorism and low-set ears

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a... more...

Related Diseases for Rubinstein-Taybi Syndrome 1

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:

33 (show top 50) (show all 137)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 low-set ears 33 hallmark (90%) HP:0000369
3 high palate 33 hallmark (90%) HP:0000218
4 intellectual disability 33 hallmark (90%) HP:0001249
5 global developmental delay 33 hallmark (90%) HP:0001263
6 short stature 33 hallmark (90%) HP:0004322
7 broad hallux phalanx 33 hallmark (90%) HP:0010059
8 broad thumb 33 hallmark (90%) HP:0011304
9 feeding difficulties in infancy 33 hallmark (90%) HP:0008872
10 joint hyperflexibility 33 hallmark (90%) HP:0005692
11 failure to thrive in infancy 33 hallmark (90%) HP:0001531
12 telecanthus 33 hallmark (90%) HP:0000506
13 downslanted palpebral fissures 33 hallmark (90%) HP:0000494
14 brachydactyly 33 hallmark (90%) HP:0001156
15 convex nasal ridge 33 hallmark (90%) HP:0000444
16 constipation 33 frequent (33%) HP:0002019
17 respiratory insufficiency 33 frequent (33%) HP:0002093
18 wide nasal bridge 33 frequent (33%) HP:0000431
19 carious teeth 33 frequent (33%) HP:0000670
20 microcephaly 33 frequent (33%) HP:0000252
21 micrognathia 33 frequent (33%) HP:0000347
22 irritability 33 frequent (33%) HP:0000737
23 strabismus 33 frequent (33%) HP:0000486
24 epicanthus 33 frequent (33%) HP:0000286
25 generalized hirsutism 33 frequent (33%) HP:0002230
26 cryptorchidism 33 frequent (33%) HP:0000028
27 attention deficit hyperactivity disorder 33 frequent (33%) HP:0007018
28 anxiety 33 frequent (33%) HP:0000739
29 clinodactyly of the 5th finger 33 frequent (33%) HP:0004209
30 glaucoma 33 frequent (33%) HP:0000501
31 nasolacrimal duct obstruction 33 frequent (33%) HP:0000579
32 highly arched eyebrow 33 frequent (33%) HP:0002553
33 clubbing of toes 33 frequent (33%) HP:0100760
34 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
35 abnormal distal phalanx morphology of finger 33 frequent (33%) HP:0009832
36 finger syndactyly 33 occasional (7.5%) HP:0006101
37 ptosis 33 occasional (7.5%) HP:0000508
38 seizures 33 occasional (7.5%) HP:0001250
39 hearing impairment 33 occasional (7.5%) HP:0000365
40 hip dysplasia 33 occasional (7.5%) HP:0001385
41 polyhydramnios 33 occasional (7.5%) HP:0001561
42 keloids 33 occasional (7.5%) HP:0010562
43 capillary hemangioma 33 occasional (7.5%) HP:0005306
44 pectus excavatum 33 HP:0000767
45 agenesis of corpus callosum 33 HP:0001274
46 frontal bossing 33 HP:0002007
47 muscular hypotonia 33 HP:0001252
48 hyperreflexia 33 HP:0001347
49 failure to thrive 33 HP:0001508
50 eeg abnormality 33 HP:0002353

Symptoms via clinical synopsis from OMIM:

58
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

Genitourinary Internal Genitalia Male:
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

UMLS symptoms related to Rubinstein-Taybi Syndrome 1:


seizures, constipation

Drugs & Therapeutics for Rubinstein-Taybi Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

42
Eye, Kidney, Brain, Heart, Bone, Uterus

Publications for Rubinstein-Taybi Syndrome 1

Articles related to Rubinstein-Taybi Syndrome 1:

# Title Authors Year
1
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:

76 (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 rs105752019
17 CREBBP p.Asp1543Asn VAR_072924

ClinVar genetic disease variations for Rubinstein-Taybi Syndrome 1:

6 (show top 50) (show all 620)
# Gene Variation Type Significance SNP ID Assembly Location
1 CREBBP NM_004380.2(CREBBP): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs587783512 GRCh37 Chromosome 16, 3778599: 3778599
2 CREBBP NM_004380.2(CREBBP): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs587783512 GRCh38 Chromosome 16, 3728598: 3728598
3 CREBBP NM_004380.2(CREBBP): c.6130_6171del (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh37 Chromosome 16, 3778877: 3778918
4 CREBBP NM_004380.2(CREBBP): c.6130_6171del (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh38 Chromosome 16, 3728876: 3728917
5 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh37 Chromosome 16, 3778960: 3778960
6 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh38 Chromosome 16, 3728959: 3728959
7 CREBBP NM_004380.2(CREBBP): c.5869del (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh37 Chromosome 16, 3779179: 3779179
8 CREBBP NM_004380.2(CREBBP): c.5869del (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh38 Chromosome 16, 3729178: 3729178
9 CREBBP NM_004380.2(CREBBP): c.5834_5844del (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh37 Chromosome 16, 3779204: 3779214
10 CREBBP NM_004380.2(CREBBP): c.5834_5844del (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh38 Chromosome 16, 3729203: 3729213
11 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh37 Chromosome 16, 3779211: 3779211
12 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh38 Chromosome 16, 3729210: 3729210
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.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh38 Chromosome 16, 3729226: 3729226
15 CREBBP NM_004380.2(CREBBP): c.5800T> C (p.Ser1934Pro) single nucleotide variant Uncertain significance rs587783504 GRCh37 Chromosome 16, 3779248: 3779248
16 CREBBP NM_004380.2(CREBBP): c.5800T> C (p.Ser1934Pro) single nucleotide variant Uncertain significance rs587783504 GRCh38 Chromosome 16, 3729247: 3729247
17 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh37 Chromosome 16, 3781315: 3781315
18 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh38 Chromosome 16, 3731314: 3731314
19 CREBBP NM_004380.2(CREBBP): c.5039_5041del (p.Ser1680del) deletion Likely pathogenic rs587783502 GRCh37 Chromosome 16, 3781324: 3781326
20 CREBBP NM_004380.2(CREBBP): c.5039_5041del (p.Ser1680del) deletion Likely pathogenic rs587783502 GRCh38 Chromosome 16, 3731323: 3731325
21 CREBBP NM_004380.2(CREBBP): c.4894T> C (p.Phe1632Leu) single nucleotide variant Uncertain significance rs587783501 GRCh37 Chromosome 16, 3781471: 3781471
22 CREBBP NM_004380.2(CREBBP): c.4894T> C (p.Phe1632Leu) single nucleotide variant Uncertain significance rs587783501 GRCh38 Chromosome 16, 3731470: 3731470
23 CREBBP NM_004380.2(CREBBP): c.4792del (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh37 Chromosome 16, 3781875: 3781875
24 CREBBP NM_004380.2(CREBBP): c.4792del (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh38 Chromosome 16, 3731874: 3731874
25 CREBBP NM_004380.2(CREBBP): c.4689del (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh37 Chromosome 16, 3786076: 3786076
26 CREBBP NM_004380.2(CREBBP): c.4689del (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh38 Chromosome 16, 3736075: 3736075
27 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh37 Chromosome 16, 3786703: 3786703
28 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh38 Chromosome 16, 3736702: 3736702
29 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh37 Chromosome 16, 3786766: 3786766
30 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh38 Chromosome 16, 3736765: 3736765
31 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh37 Chromosome 16, 3786767: 3786767
32 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh38 Chromosome 16, 3736766: 3736766
33 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh37 Chromosome 16, 3786813: 3786813
34 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh38 Chromosome 16, 3736812: 3736812
35 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh37 Chromosome 16, 3788578: 3788578
36 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh38 Chromosome 16, 3738577: 3738577
37 CREBBP NM_004380.2(CREBBP): c.4281-11C> G single nucleotide variant Likely pathogenic rs587783493 GRCh37 Chromosome 16, 3788684: 3788684
38 CREBBP NM_004380.2(CREBBP): c.4281-11C> G single nucleotide variant Likely pathogenic rs587783493 GRCh38 Chromosome 16, 3738683: 3738683
39 CREBBP NM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser) single nucleotide variant Likely pathogenic rs587783492 GRCh37 Chromosome 16, 3789633: 3789633
40 CREBBP NM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser) single nucleotide variant Likely pathogenic rs587783492 GRCh38 Chromosome 16, 3739632: 3739632
41 CREBBP NM_004380.2(CREBBP): c.4133+1G> A single nucleotide variant Pathogenic rs587783491 GRCh37 Chromosome 16, 3790399: 3790399
42 CREBBP NM_004380.2(CREBBP): c.4133+1G> A single nucleotide variant Pathogenic rs587783491 GRCh38 Chromosome 16, 3740398: 3740398
43 CREBBP NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter) single nucleotide variant Pathogenic rs587783490 GRCh37 Chromosome 16, 3790455: 3790455
44 CREBBP NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter) single nucleotide variant Pathogenic rs587783490 GRCh38 Chromosome 16, 3740454: 3740454
45 CREBBP NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter) single nucleotide variant Pathogenic rs587783489 GRCh37 Chromosome 16, 3790488: 3790488
46 CREBBP NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter) single nucleotide variant Pathogenic rs587783489 GRCh38 Chromosome 16, 3740487: 3740487
47 CREBBP NM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro) single nucleotide variant Likely pathogenic rs587783488 GRCh37 Chromosome 16, 3790511: 3790511
48 CREBBP NM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro) single nucleotide variant Likely pathogenic rs587783488 GRCh38 Chromosome 16, 3740510: 3740510
49 CREBBP NM_004380.2(CREBBP): c.3989A> G (p.Gln1330Arg) single nucleotide variant Uncertain significance rs587783487 GRCh37 Chromosome 16, 3790544: 3790544
50 CREBBP NM_004380.2(CREBBP): c.3989A> G (p.Gln1330Arg) single nucleotide variant Uncertain significance rs587783487 GRCh38 Chromosome 16, 3740543: 3740543

Copy number variations for Rubinstein-Taybi Syndrome 1 from CNVD:

7 (show all 14)
# 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 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
12.29 CREBBP EP300
3
Show member pathways
12.28 CREBBP EP300
4 12.22 CREBBP EP300
5
Show member pathways
12.2 CREBBP EP300
6
Show member pathways
12.19 CREBBP EP300
7
Show member pathways
12.14 CREBBP EP300
8
Show member pathways
12.14 CREBBP EP300
9 12.14 CREBBP EP300
10
Show member pathways
12.11 CREBBP EP300
11 12.09 CREBBP EP300
12 12.07 CREBBP EP300
13
Show member pathways
12.07 CREBBP EP300
14
Show member pathways
12.05 CREBBP EP300
15 12.05 CREBBP EP300
16 12.02 CREBBP EP300
17
Show member pathways
11.99 CREBBP EP300
18
Show member pathways
11.97 CREBBP EP300
19 11.97 CREBBP EP300
20
Show member pathways
11.95 CREBBP EP300
21
Show member pathways
11.94 CREBBP EP300
22
Show member pathways
11.94 CREBBP EP300
23
Show member pathways
11.92 CREBBP EP300
24 11.91 CREBBP EP300
25
Show member pathways
11.9 CREBBP EP300
26 11.89 CREBBP EP300
27
Show member pathways
11.83 CREBBP EP300
28 11.81 CREBBP EP300
29 11.81 CREBBP EP300
30 11.79 CREBBP EP300
31
Show member pathways
11.78 CREBBP EP300
32
Show member pathways
11.76 CREBBP EP300
33 11.74 CREBBP EP300
34 11.69 CREBBP EP300
35 11.67 CREBBP EP300
36
Show member pathways
11.64 CREBBP EP300
37 11.62 CREBBP EP300
38 11.61 CREBBP EP300
39 11.61 CREBBP EP300
40
Show member pathways
11.57 CREBBP EP300
41 11.56 CREBBP EP300
42 11.56 CREBBP EP300
43 11.53 CREBBP EP300
44 11.52 CREBBP EP300
45 11.5 CREBBP EP300
46 11.49 CREBBP EP300
47 11.48 CREBBP EP300
48
Show member pathways
11.46 CREBBP EP300
49 11.44 CREBBP EP300
50 11.43 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 16)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.56 CREBBP EP300
2 rhythmic process GO:0048511 9.55 CREBBP EP300
3 Notch signaling pathway GO:0007219 9.54 CREBBP EP300
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.52 CREBBP EP300
5 histone acetylation GO:0016573 9.51 CREBBP EP300
6 cellular response to UV GO:0034644 9.49 CREBBP EP300
7 positive regulation of Notch signaling pathway GO:0045747 9.48 CREBBP EP300
8 protein destabilization GO:0031648 9.46 CREBBP EP300
9 regulation of cellular response to heat GO:1900034 9.43 CREBBP EP300
10 positive regulation of type I interferon production GO:0032481 9.4 CREBBP EP300
11 beta-catenin-TCF complex assembly GO:1904837 9.37 CREBBP EP300
12 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.32 CREBBP EP300
13 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.26 CREBBP EP300
14 positive regulation of transcription of Notch receptor target GO:0007221 9.16 CREBBP EP300
15 protein acetylation GO:0006473 8.96 CREBBP EP300
16 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 12)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.51 CREBBP EP300
2 transcription factor binding GO:0008134 9.49 CREBBP EP300
3 transcription coactivator activity GO:0003713 9.48 CREBBP EP300
4 transferase activity, transferring acyl groups GO:0016746 9.46 CREBBP EP300
5 transcription coregulator activity GO:0003712 9.43 CREBBP EP300
6 damaged DNA binding GO:0003684 9.4 CREBBP EP300
7 p53 binding GO:0002039 9.37 CREBBP EP300
8 histone acetyltransferase activity GO:0004402 9.32 CREBBP EP300
9 RNA polymerase II transcription factor binding GO:0001085 9.26 CREBBP EP300
10 RNA polymerase II activating transcription factor binding GO:0001102 9.16 CREBBP EP300
11 acetyltransferase activity GO:0016407 8.96 CREBBP EP300
12 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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