RSTS1
MCID: RBN021
MIFTS: 51

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 57 75
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 57 75
Broad Thumb-Hallux Syndrome 57 75
Rubinstein Syndrome 57 75
Rsts1 57 75
Rsts 57 75
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 59
Rubinstein-Taybi Syndrome, Type 1 40
Rubinstein-Taybi Syndrome 73

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:



External Ids:

OMIM 57 180849
Orphanet 59 ORPHA353277
ICD10 via Orphanet 34 Q87.2
MedGen 42 C0035934
MeSH 44 D012415
SNOMED-CT via HPO 69 263681008 204878001 204888000 more
UMLS 73 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)

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 Notch signaling pathway (KEGG). Affiliated tissues include eye, kidney and brain, and related phenotypes are hypertelorism and low-set ears

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.

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 17)
# Related Disease Score Top Affiliating Genes
1 chromosome 16p13.3 deletion syndrome, proximal 32.3 CREBBP EP300
2 rubinstein-taybi syndrome 2 11.5
3 myocardial infarction 10.0
4 acute myocardial infarction 10.0
5 bipolar disorder 10.0
6 sarcoma 10.0
7 kidney cancer 10.0
8 uremia 10.0
9 soft tissue sarcoma 10.0
10 neonatal leukemia 9.9 CREBBP EP300
11 human t-cell leukemia virus type 2 9.9 CREBBP EP300
12 t-cell leukemia 9.8 CREBBP EP300
13 human t-cell leukemia virus type 1 9.8 CREBBP EP300
14 leukemia, acute monocytic 9.8 CREBBP EP300
15 hypoxia 9.8 CREBBP EP300
16 hematologic cancer 9.8 CREBBP EP300
17 amyotrophic lateral sclerosis 1 9.7 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

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

Human phenotypes related to Rubinstein-Taybi Syndrome 1:

32 (show top 50) (show all 137)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 hallmark (90%) HP:0000316
2 low-set ears 32 hallmark (90%) HP:0000369
3 pectus excavatum 32 HP:0000767
4 agenesis of corpus callosum 32 HP:0001274
5 frontal bossing 32 HP:0002007
6 finger syndactyly 32 occasional (7.5%) HP:0006101
7 high palate 32 hallmark (90%) HP:0000218
8 ptosis 32 occasional (7.5%) HP:0000508
9 intellectual disability 32 hallmark (90%) HP:0001249
10 seizures 32 occasional (7.5%) HP:0001250
11 muscular hypotonia 32 HP:0001252
12 hyperreflexia 32 HP:0001347
13 failure to thrive 32 HP:0001508
14 constipation 32 frequent (33%) HP:0002019
15 respiratory insufficiency 32 frequent (33%) HP:0002093
16 eeg abnormality 32 HP:0002353
17 scoliosis 32 HP:0002650
18 narrow palate 32 HP:0000189
19 hearing impairment 32 occasional (7.5%) HP:0000365
20 cataract 32 HP:0000518
21 dental malocclusion 32 HP:0000689
22 global developmental delay 32 hallmark (90%) HP:0001263
23 hip dysplasia 32 occasional (7.5%) HP:0001385
24 delayed skeletal maturation 32 HP:0002750
25 wide nasal bridge 32 frequent (33%) HP:0000431
26 carious teeth 32 frequent (33%) HP:0000670
27 delayed speech and language development 32 HP:0000750
28 pes planus 32 HP:0001763
29 microcephaly 32 frequent (33%) HP:0000252
30 thick eyebrow 32 HP:0000574
31 short stature 32 hallmark (90%) HP:0004322
32 broad hallux phalanx 32 hallmark (90%) HP:0010059
33 broad thumb 32 hallmark (90%) HP:0011304
34 flexion contracture 32 HP:0001371
35 feeding difficulties in infancy 32 hallmark (90%) HP:0008872
36 stereotypy 32 HP:0000733
37 laryngomalacia 32 HP:0001601
38 arrhythmia 32 HP:0011675
39 micrognathia 32 frequent (33%) HP:0000347
40 irritability 32 frequent (33%) HP:0000737
41 recurrent upper respiratory tract infections 32 HP:0002788
42 retrognathia 32 HP:0000278
43 strabismus 32 frequent (33%) HP:0000486
44 patent ductus arteriosus 32 HP:0001643
45 respiratory distress 32 HP:0002098
46 joint hyperflexibility 32 hallmark (90%) HP:0005692
47 epicanthus 32 frequent (33%) HP:0000286
48 generalized hirsutism 32 frequent (33%) HP:0002230
49 cryptorchidism 32 frequent (33%) HP:0000028
50 autism 32 HP:0000717

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:

41
Eye, Kidney, Brain, Heart, Bone, T Cells, 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:

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 rs105752019
17 CREBBP p.Asp1543Asn VAR_072924

ClinVar genetic disease variations for Rubinstein-Taybi Syndrome 1:

6 (show top 50) (show all 602)
# 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.2728A> G (p.Thr910Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143247685 GRCh37 Chromosome 16, 3820723: 3820723
14 CREBBP NM_004380.2(CREBBP): c.2728A> G (p.Thr910Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143247685 GRCh38 Chromosome 16, 3770722: 3770722
15 EP300 NM_001429.3(EP300): c.2053+8G> T single nucleotide variant Benign rs6002267 GRCh37 Chromosome 22, 41537234: 41537234
16 EP300 NM_001429.3(EP300): c.2053+8G> T single nucleotide variant Benign rs6002267 GRCh38 Chromosome 22, 41141230: 41141230
17 EP300 NM_001429.3(EP300): c.2499G> A (p.Ser833=) single nucleotide variant Benign/Likely benign rs35560602 GRCh37 Chromosome 22, 41545884: 41545884
18 EP300 NM_001429.3(EP300): c.2499G> A (p.Ser833=) single nucleotide variant Benign/Likely benign rs35560602 GRCh38 Chromosome 22, 41149880: 41149880
19 EP300 NM_001429.3(EP300): c.2989A> G (p.Ile997Val) single nucleotide variant Benign rs20551 GRCh37 Chromosome 22, 41548008: 41548008
20 EP300 NM_001429.3(EP300): c.2989A> G (p.Ile997Val) single nucleotide variant Benign rs20551 GRCh38 Chromosome 22, 41152004: 41152004
21 EP300 NM_001429.3(EP300): c.3183T> A (p.Thr1061=) single nucleotide variant Benign rs20552 GRCh37 Chromosome 22, 41551039: 41551039
22 EP300 NM_001429.3(EP300): c.3183T> A (p.Thr1061=) single nucleotide variant Benign rs20552 GRCh38 Chromosome 22, 41155035: 41155035
23 EP300 NM_001429.3(EP300): c.3354C> T (p.Val1118=) single nucleotide variant Benign/Likely benign rs11704815 GRCh37 Chromosome 22, 41553265: 41553265
24 EP300 NM_001429.3(EP300): c.3354C> T (p.Val1118=) single nucleotide variant Benign/Likely benign rs11704815 GRCh38 Chromosome 22, 41157261: 41157261
25 EP300 NM_001429.3(EP300): c.6668A> C (p.Gln2223Pro) single nucleotide variant Benign/Likely benign rs1046088 GRCh37 Chromosome 22, 41574383: 41574383
26 EP300 NM_001429.3(EP300): c.6668A> C (p.Gln2223Pro) single nucleotide variant Benign/Likely benign rs1046088 GRCh38 Chromosome 22, 41178379: 41178379
27 EP300 NM_001429.3(EP300): c.730-18_730-9delTTTGTTTCTT deletion Benign rs61120041 GRCh37 Chromosome 22, 41521850: 41521859
28 EP300 NM_001429.3(EP300): c.730-18_730-9delTTTGTTTCTT deletion Benign rs61120041 GRCh38 Chromosome 22, 41125846: 41125855
29 CREBBP NM_004380.2(CREBBP): c.1149G> A (p.Pro383=) single nucleotide variant Conflicting interpretations of pathogenicity rs61759495 GRCh37 Chromosome 16, 3843454: 3843454
30 CREBBP NM_004380.2(CREBBP): c.1149G> A (p.Pro383=) single nucleotide variant Conflicting interpretations of pathogenicity rs61759495 GRCh38 Chromosome 16, 3793453: 3793453
31 CREBBP NM_004380.2(CREBBP): c.1651C> A (p.Leu551Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61753381 GRCh37 Chromosome 16, 3831230: 3831230
32 CREBBP NM_004380.2(CREBBP): c.1651C> A (p.Leu551Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61753381 GRCh38 Chromosome 16, 3781229: 3781229
33 CREBBP NM_004380.2(CREBBP): c.2678C> T (p.Ser893Leu) single nucleotide variant Benign/Likely benign rs142047649 GRCh37 Chromosome 16, 3820773: 3820773
34 CREBBP NM_004380.2(CREBBP): c.2678C> T (p.Ser893Leu) single nucleotide variant Benign/Likely benign rs142047649 GRCh38 Chromosome 16, 3770772: 3770772
35 CREBBP NM_004380.2(CREBBP): c.2811G> A (p.Pro937=) single nucleotide variant Uncertain significance rs146168040 GRCh37 Chromosome 16, 3820640: 3820640
36 CREBBP NM_004380.2(CREBBP): c.2811G> A (p.Pro937=) single nucleotide variant Uncertain significance rs146168040 GRCh38 Chromosome 16, 3770639: 3770639
37 CREBBP NM_004380.2(CREBBP): c.2941G> A (p.Ala981Thr) single nucleotide variant Benign rs61753380 GRCh37 Chromosome 16, 3819294: 3819294
38 CREBBP NM_004380.2(CREBBP): c.2941G> A (p.Ala981Thr) single nucleotide variant Benign rs61753380 GRCh38 Chromosome 16, 3769293: 3769293
39 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh37 Chromosome 16, 3794894: 3794894
40 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh38 Chromosome 16, 3744893: 3744893
41 CREBBP NM_004380.2(CREBBP): c.4336C> T (p.Arg1446Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs398124146 GRCh37 Chromosome 16, 3788618: 3788618
42 CREBBP NM_004380.2(CREBBP): c.4336C> T (p.Arg1446Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs398124146 GRCh38 Chromosome 16, 3738617: 3738617
43 CREBBP NM_004380.2(CREBBP): c.459G> A (p.Pro153=) single nucleotide variant Benign rs56388626 GRCh37 Chromosome 16, 3900637: 3900637
44 CREBBP NM_004380.2(CREBBP): c.459G> A (p.Pro153=) single nucleotide variant Benign rs56388626 GRCh38 Chromosome 16, 3850636: 3850636
45 CREBBP NM_004380.2(CREBBP): c.5719G> A (p.Ala1907Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199990883 GRCh37 Chromosome 16, 3779329: 3779329
46 CREBBP NM_004380.2(CREBBP): c.5719G> A (p.Ala1907Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199990883 GRCh38 Chromosome 16, 3729328: 3729328
47 CREBBP NM_004380.2(CREBBP): c.5988C> T (p.Ala1996=) single nucleotide variant Benign rs181646656 GRCh37 Chromosome 16, 3779060: 3779060
48 CREBBP NM_004380.2(CREBBP): c.5988C> T (p.Ala1996=) single nucleotide variant Benign rs181646656 GRCh38 Chromosome 16, 3729059: 3729059
49 CREBBP NM_004380.2(CREBBP): c.6621A> G (p.Gln2207=) single nucleotide variant Benign rs55960450 GRCh37 Chromosome 16, 3778427: 3778427
50 CREBBP NM_004380.2(CREBBP): c.6621A> G (p.Gln2207=) single nucleotide variant Benign rs55960450 GRCh38 Chromosome 16, 3728426: 3728426

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 74)
# 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
12.26 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
12.18 CREBBP EP300
8
Show member pathways
12.15 CREBBP EP300
9
Show member pathways
12.14 CREBBP EP300
10 12.14 CREBBP EP300
11
Show member pathways
12.14 CREBBP EP300
12 12.13 CREBBP EP300
13
Show member pathways
12.11 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
12.03 CREBBP EP300
18 12.02 CREBBP EP300
19
Show member pathways
11.97 CREBBP EP300
20 11.97 CREBBP EP300
21
Show member pathways
11.95 CREBBP EP300
22
Show member pathways
11.94 CREBBP EP300
23
Show member pathways
11.94 CREBBP EP300
24
Show member pathways
11.92 CREBBP EP300
25 11.91 CREBBP EP300
26
Show member pathways
11.9 CREBBP EP300
27 11.89 CREBBP EP300
28
Show member pathways
11.83 CREBBP EP300
29 11.81 CREBBP EP300
30 11.81 CREBBP EP300
31 11.79 CREBBP EP300
32
Show member pathways
11.78 CREBBP EP300
33
Show member pathways
11.76 CREBBP EP300
34 11.74 CREBBP EP300
35 11.69 CREBBP EP300
36 11.67 CREBBP EP300
37
Show member pathways
11.64 CREBBP EP300
38 11.62 CREBBP EP300
39 11.61 CREBBP EP300
40 11.58 CREBBP EP300
41
Show member pathways
11.57 CREBBP EP300
42 11.56 CREBBP EP300
43 11.56 CREBBP EP300
44 11.53 CREBBP EP300
45 11.52 CREBBP EP300
46 11.5 CREBBP EP300
47 11.49 CREBBP EP300
48 11.48 CREBBP EP300
49
Show member pathways
11.46 CREBBP EP300
50 11.44 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 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
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