MCID: RBN021
MIFTS: 50

Rubinstein-Taybi Syndrome 1

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

Aliases & Classifications for Rubinstein-Taybi Syndrome 1

MalaCards integrated aliases for Rubinstein-Taybi Syndrome 1:

Name: Rubinstein-Taybi Syndrome 1 53 71
Broad Thumb-Hallux Syndrome 53 71
Rubinstein Syndrome 53 71
Rsts1 53 71
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 53
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 71
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 55
Rubinstein-Taybi Syndrome 69
Rsts 53

Characteristics:

OMIM:

53
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:

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


Classifications:



Summaries for Rubinstein-Taybi Syndrome 1

OMIM : 53 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, seizures and respiratory distress. An important gene associated with Rubinstein-Taybi Syndrome 1 is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Notch signaling pathway (KEGG). The drugs Valproic Acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone.

UniProtKB/Swiss-Prot : 71 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:

(showing 9, show less)
# Related Disease Score Top Affiliating Genes
1 chromosome 16p13.3 deletion syndrome, proximal 31.9 CREBBP EP300
2 rubinstein-taybi syndrome 2 11.3
3 neonatal leukemia 9.7 CREBBP EP300
4 human t-cell leukemia virus type 2 9.7 CREBBP EP300
5 human t-cell leukemia virus type 1 9.7 CREBBP EP300
6 leukemia, acute monocytic 9.6 CREBBP EP300
7 hypoxia 9.6 CREBBP EP300
8 leukemia, acute myeloid 9.5 CREBBP EP300
9 amyotrophic lateral sclerosis 1 9.4 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:

53
Abdomen Gastroin testinal:
constipation

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

Head And Neck Eyes:
ptosis
strabismus
glaucoma
nasolacrimal duct obstruction
long eyelashes
more
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:
seizures
agenesis of corpus callosum
hyperreflexia
poor coordination
hypotonia
more
Head And Neck Head:
frontal bossing
microcephaly
large anterior fontanel
late closure of fontanel

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 RibsSternum 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:

31 (showing 117, show less)
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 seizures 31 HP:0001250
3 respiratory distress 31 HP:0002098
4 joint laxity 31 HP:0001388
5 low-set ears 31 HP:0000369
6 pectus excavatum 31 HP:0000767
7 agenesis of corpus callosum 31 HP:0001274
8 frontal bossing 31 HP:0002007
9 high palate 31 HP:0000218
10 ptosis 31 HP:0000508
11 intellectual disability 31 HP:0001249
12 muscular hypotonia 31 HP:0001252
13 hyperreflexia 31 HP:0001347
14 failure to thrive 31 HP:0001508
15 eeg abnormality 31 HP:0002353
16 scoliosis 31 HP:0002650
17 narrow palate 31 HP:0000189
18 hearing impairment 31 HP:0000365
19 cataract 31 HP:0000518
20 dental malocclusion 31 HP:0000689
21 delayed skeletal maturation 31 HP:0002750
22 wide nasal bridge 31 HP:0000431
23 delayed speech and language development 31 HP:0000750
24 pes planus 31 HP:0001763
25 microcephaly 31 HP:0000252
26 thick eyebrow 31 HP:0000574
27 short stature 31 HP:0004322
28 broad thumb 31 HP:0011304
29 flexion contracture 31 HP:0001371
30 feeding difficulties in infancy 31 HP:0008872
31 stereotypy 31 HP:0000733
32 laryngomalacia 31 HP:0001601
33 arrhythmia 31 HP:0011675
34 micrognathia 31 HP:0000347
35 recurrent upper respiratory tract infections 31 HP:0002788
36 retrognathia 31 HP:0000278
37 patent ductus arteriosus 31 HP:0001643
38 epicanthus 31 HP:0000286
39 cryptorchidism 31 HP:0000028
40 autism 31 HP:0000717
41 postnatal growth retardation 31 HP:0008897
42 low posterior hairline 31 HP:0002162
43 atrial septal defect 31 HP:0001631
44 abnormality of the pinna 31 HP:0000377
45 aganglionic megacolon 31 HP:0002251
46 hypoplastic iliac wing 31 HP:0002866
47 hypospadias 31 HP:0000047
48 deeply set eye 31 HP:0000490
49 clinodactyly of the 5th finger 31 HP:0004209
50 hypoplasia of the maxilla 31 HP:0000327
51 abnormality of the kidney 31 HP:0000077
52 glaucoma 31 HP:0000501
53 capillary hemangiomas 31 HP:0005306
54 papillary cystadenoma of the epididymis 31 HP:0009715
55 dental crowding 31 HP:0000678
56 joint hypermobility 31 HP:0001382
57 downslanted palpebral fissures 31 HP:0000494
58 narrow mouth 31 HP:0000160
59 polyhydramnios 31 HP:0001561
60 ventricular septal defect 31 HP:0001629
61 patellar dislocation 31 HP:0002999
62 low anterior hairline 31 HP:0000294
63 phonophobia 31 HP:0002183
64 spina bifida occulta 31 HP:0003298
65 obstructive sleep apnea 31 HP:0002870
66 convex nasal ridge 31 HP:0000444
67 nasolacrimal duct obstruction 31 HP:0000579
68 highly arched eyebrow 31 HP:0002553
69 keloids 31 HP:0010562
70 wide anterior fontanel 31 HP:0000260
71 proptosis 31 HP:0000520
72 long eyelashes 31 HP:0000527
73 truncal obesity 31 HP:0001956
74 hyperactivity 31 HP:0000752
75 impulsivity 31 HP:0100710
76 poor coordination 31 HP:0002370
77 shawl scrotum 31 HP:0000049
78 single transverse palmar crease 31 HP:0000954
79 abnormality of the cervical spine 31 HP:0003319
80 delayed cranial suture closure 31 HP:0000270
81 avascular necrosis of the capital femoral epiphysis 31 HP:0005743
82 cafe-au-lait spot 31 HP:0000957
83 generalized hypotonia 31 HP:0001290
84 coloboma 31 HP:0000589
85 unsteady gait 31 HP:0002317
86 agoraphobia 31 HP:0000756
87 dislocated radial head 31 HP:0003083
88 hirsutism 31 HP:0001007
89 syndactyly 31 HP:0001159
90 flared iliac wings 31 HP:0002869
91 hypoplasia of dental enamel 31 HP:0006297
92 deviated nasal septum 31 HP:0004411
93 broad hallux 31 HP:0010055
94 prominent fingertip pads 31 HP:0001212
95 bimanual synkinesia 31 HP:0001335
96 duane anomaly 31 HP:0009921
97 abnormality of the cornea 31 HP:0000481
98 self-mutilation 31 HP:0000742
99 short attention span 31 HP:0000736
100 premature thelarche 31 HP:0010314
101 polydactyly 31 HP:0010442
102 chorioretinal dystrophy 31 HP:0001135
103 abnormality of refraction 31 HP:0000539
104 parietal foramina 31 HP:0002697
105 low hanging columella 31 HP:0009765
106 bifid uterus 31 HP:0000136
107 facial grimacing 31 HP:0000273
108 large foramen magnum 31 HP:0002700
109 radial deviation of thumb terminal phalanx 31 HP:0005895
110 tethered cord 31 HP:0002144
111 plantar crease between first and second toes 31 HP:0008107
112 high axial triradius 31 HP:0001042
113 vascular ring 31 HP:0010775
114 talon cusp 31 HP:0011087
115 duplication of phalanx of hallux 31 HP:0010066
116 frontal upsweep of hair 31 HP:0002236
117 abnormal number of teeth 31 HP:0006483

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):

(showing 9, show less)
# 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:

(showing 2, show less)

# 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

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:

38
Eye, Kidney, Bone, Uterus

Publications for Rubinstein-Taybi Syndrome 1

Articles related to Rubinstein-Taybi Syndrome 1:

(showing 2, show less)
# 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:

71 (showing 17, show less)
# 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 (showing 90, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 CREBBP NM_004380.2(CREBBP): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434624 GRCh37 Chromosome 16, 3900690: 3900690
2 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh37 Chromosome 16, 3843534: 3843534
3 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh37 Chromosome 16, 3790400: 3790400
4 CREBBP CREBBP, 2-BP DEL, NT5222 deletion Pathogenic
5 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh37 Chromosome 16, 3807895: 3807895
6 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh37 Chromosome 16, 3799632: 3799632
7 CREBBP CREBBP, IVS21, A-T, -2 single nucleotide variant Pathogenic
8 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh37 Chromosome 16, 3794894: 3794894
9 CREBBP NM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh37 Chromosome 16, 3778877: 3778918
10 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh37 Chromosome 16, 3778960: 3778960
11 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh37 Chromosome 16, 3779179: 3779179
12 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh37 Chromosome 16, 3779204: 3779214
13 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh37 Chromosome 16, 3779211: 3779211
14 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh37 Chromosome 16, 3779227: 3779227
15 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh37 Chromosome 16, 3781315: 3781315
16 CREBBP NM_004380.2(CREBBP): c.5039_5041delCCT (p.Ser1680del) deletion Likely pathogenic rs587783502 GRCh37 Chromosome 16, 3781324: 3781326
17 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh37 Chromosome 16, 3781875: 3781875
18 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh37 Chromosome 16, 3786076: 3786076
19 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh37 Chromosome 16, 3786703: 3786703
20 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh37 Chromosome 16, 3786766: 3786766
21 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh37 Chromosome 16, 3786767: 3786767
22 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh37 Chromosome 16, 3786813: 3786813
23 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh37 Chromosome 16, 3788578: 3788578
24 CREBBP NM_004380.2(CREBBP): c.4281-11C> G single nucleotide variant Likely pathogenic rs587783493 GRCh37 Chromosome 16, 3788684: 3788684
25 CREBBP NM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser) single nucleotide variant Likely pathogenic rs587783492 GRCh37 Chromosome 16, 3789633: 3789633
26 CREBBP NM_004380.2(CREBBP): c.4133+1G> A single nucleotide variant Pathogenic rs587783491 GRCh37 Chromosome 16, 3790399: 3790399
27 CREBBP NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter) single nucleotide variant Pathogenic rs587783490 GRCh37 Chromosome 16, 3790455: 3790455
28 CREBBP NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter) single nucleotide variant Pathogenic rs587783489 GRCh37 Chromosome 16, 3790488: 3790488
29 CREBBP NM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro) single nucleotide variant Likely pathogenic rs587783488 GRCh37 Chromosome 16, 3790511: 3790511
30 CREBBP NM_004380.2(CREBBP): c.3983-2A> G single nucleotide variant Pathogenic rs587783486 GRCh37 Chromosome 16, 3790552: 3790552
31 CREBBP NM_004380.2(CREBBP): c.3914+3G> T single nucleotide variant Likely pathogenic rs587783485 GRCh37 Chromosome 16, 3795275: 3795275
32 CREBBP NM_004380.2(CREBBP): c.3836+1G> A single nucleotide variant Pathogenic rs200782888 GRCh37 Chromosome 16, 3799627: 3799627
33 CREBBP NM_004380.2(CREBBP): c.3779+1G> A single nucleotide variant Pathogenic rs587783483 GRCh37 Chromosome 16, 3801726: 3801726
34 CREBBP NM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter) single nucleotide variant Pathogenic rs587783482 GRCh37 Chromosome 16, 3807374: 3807374
35 CREBBP NM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys) single nucleotide variant Likely pathogenic rs587783481 GRCh37 Chromosome 16, 3807919: 3807919
36 CREBBP NM_004380.2(CREBBP): c.3369+1G> T single nucleotide variant Pathogenic rs587783480 GRCh37 Chromosome 16, 3808854: 3808854
37 CREBBP NM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter) single nucleotide variant Pathogenic rs587783479 GRCh37 Chromosome 16, 3808914: 3808914
38 CREBBP NM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter) single nucleotide variant Pathogenic rs587783475 GRCh37 Chromosome 16, 3820660: 3820660
39 CREBBP NM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs) deletion Pathogenic rs587783473 GRCh37 Chromosome 16, 3820844: 3820845
40 CREBBP NM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter) single nucleotide variant Pathogenic rs587783471 GRCh37 Chromosome 16, 3820916: 3820916
41 CREBBP NM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs) deletion Pathogenic rs587783470 GRCh37 Chromosome 16, 3827649: 3827650
42 CREBBP NM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs) deletion Pathogenic rs587783469 GRCh37 Chromosome 16, 3828099: 3828099
43 CREBBP NM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs) deletion Pathogenic rs587783467 GRCh37 Chromosome 16, 3830735: 3830735
44 CREBBP NM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs) deletion Pathogenic rs587783465 GRCh37 Chromosome 16, 3831291: 3831291
45 CREBBP NM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs587783464 GRCh37 Chromosome 16, 3842042: 3842042
46 CREBBP NM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter) single nucleotide variant Pathogenic rs587783463 GRCh37 Chromosome 16, 3842055: 3842055
47 CREBBP NM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic rs587783461 GRCh37 Chromosome 16, 3843447: 3843447
48 CREBBP NM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs587783460 GRCh37 Chromosome 16, 3843540: 3843540
49 CREBBP NM_004380.2(CREBBP): c.953C> A (p.Ser318Ter) single nucleotide variant Pathogenic rs587783516 GRCh37 Chromosome 16, 3860626: 3860626
50 CREBBP NM_004380.2(CREBBP): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783509 GRCh37 Chromosome 16, 3900498: 3900498
51 CREBBP NM_004380.2(CREBBP): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs587783478 GRCh37 Chromosome 16, 3900780: 3900780
52 CREBBP NM_004380.2(CREBBP): c.299delG (p.Gly100Valfs) deletion Pathogenic rs587783477 GRCh37 Chromosome 16, 3900797: 3900797
53 CREBBP NM_004380.2(CREBBP): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs587783476 GRCh37 Chromosome 16, 3900810: 3900810
54 CREBBP NM_004380.2(CREBBP): c.86-2A> C single nucleotide variant Pathogenic rs587783515 GRCh37 Chromosome 16, 3901012: 3901012
55 CREBBP NM_004380.2(CREBBP): c.37A> G (p.Lys13Glu) single nucleotide variant Likely pathogenic rs587783484 GRCh37 Chromosome 16, 3929881: 3929881
56 CREBBP NM_004380.2(CREBBP): c.2685delC (p.Gln897Argfs) deletion Pathogenic rs794727124 GRCh37 Chromosome 16, 3820766: 3820766
57 CREBBP NM_004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs) deletion Pathogenic rs794727391 GRCh38 Chromosome 16, 3740539: 3740539
58 CREBBP NM_004380.2(CREBBP): c.5614A> G (p.Met1872Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045037 GRCh37 Chromosome 16, 3779434: 3779434
59 CREBBP NM_004380.2(CREBBP): c.(?_-23)_85+?del deletion Pathogenic GRCh38 Chromosome 16, 3879832: 3879939
60 CREBBP NM_004380.2(CREBBP): c.6395_6417dup23 (p.Gln2140Alafs) duplication Pathogenic rs797045500 GRCh38 Chromosome 16, 3728630: 3728652
61 CREBBP NM_004380.2(CREBBP): c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs) deletion Pathogenic rs797045499 GRCh37 Chromosome 16, 3778932: 3778941
62 CREBBP NM_004380.2(CREBBP): c.5936_5937insT (p.Ser1980Glnfs) insertion Pathogenic rs797045498 GRCh38 Chromosome 16, 3729110: 3729111
63 CREBBP NM_004380.2(CREBBP): c.5837dupC (p.Pro1947Thrfs) duplication Pathogenic rs797045497 GRCh37 Chromosome 16, 3779211: 3779211
64 CREBBP NM_004380.2(CREBBP): c.5412C> A (p.His1804Gln) single nucleotide variant Likely pathogenic rs797045496 GRCh37 Chromosome 16, 3779636: 3779636
65 CREBBP NM_004380.2(CREBBP): c.5027G> A (p.Trp1676Ter) single nucleotide variant Pathogenic rs797045495 GRCh37 Chromosome 16, 3781338: 3781338
66 CREBBP NM_004380.2(CREBBP): c.4281G> T (p.Arg1427Ser) single nucleotide variant Likely pathogenic rs797045494 GRCh38 Chromosome 16, 3738672: 3738672
67 CREBBP NM_004380.2(CREBBP): c.3490G> C (p.Ala1164Pro) single nucleotide variant Likely pathogenic rs797045492 GRCh37 Chromosome 16, 3807929: 3807929
68 CREBBP NM_004380.2(CREBBP): c.3461dupT (p.Asp1155Glyfs) duplication Pathogenic rs797045490 GRCh38 Chromosome 16, 3757957: 3757957
69 CREBBP NM_004380.2(CREBBP): c.3436C> T (p.Gln1146Ter) single nucleotide variant Pathogenic rs797045489 GRCh38 Chromosome 16, 3757982: 3757982
70 CREBBP NM_004380.2(CREBBP): c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs) indel Pathogenic rs797045488 GRCh38 Chromosome 16, 3767885: 3767893
71 CREBBP NM_004380.2(CREBBP): c.2810_2811insC (p.Ser938Valfs) duplication Pathogenic rs797045485 GRCh37 Chromosome 16, 3820641: 3820641
72 CREBBP NM_004380.2(CREBBP): c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs) indel Pathogenic rs797045484 GRCh38 Chromosome 16, 3770760: 3770771
73 CREBBP NM_004380.2(CREBBP): c.2178_2179insC (p.Met727Hisfs) duplication Pathogenic rs797045483 GRCh37 Chromosome 16, 3824675: 3824675
74 CREBBP NM_004380.2(CREBBP): c.827_828dupTT (p.Gly277Leufs) duplication Pathogenic rs797045502 GRCh38 Chromosome 16, 3810750: 3810751
75 CREBBP NM_004380.2(CREBBP): c.348_349dupTG (p.Ala117Valfs) duplication Pathogenic rs797045491 GRCh37 Chromosome 16, 3900747: 3900748
76 CREBBP NM_004380.2(CREBBP): c.282dupC (p.Val95Argfs) duplication Pathogenic rs797045486 GRCh37 Chromosome 16, 3900814: 3900814
77 CREBBP NM_004380.2(CREBBP): c.86-1G> T single nucleotide variant Pathogenic rs11644721 GRCh37 Chromosome 16, 3901011: 3901011
78 CREBBP NM_004380.2(CREBBP): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs797045487 GRCh37 Chromosome 16, 3929916: 3929916
79 CREBBP NM_004380.2(CREBBP): c.4134-1G> T single nucleotide variant Likely pathogenic rs886041048 GRCh38 Chromosome 16, 3739725: 3739725
80 CREBBP NG_009873.1: g.(?_5000)_(160068_?)del deletion Pathogenic GRCh38 Chromosome 16, 3725053: 3880121
81 CREBBP NM_004380.2(CREBBP): c.6324C> A (p.Tyr2108Ter) single nucleotide variant Likely pathogenic rs199821421 GRCh37 Chromosome 16, 3778724: 3778724
82 CREBBP NM_004380.2(CREBBP): c.3914+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3795277: 3795277
83 CREBBP NM_004380.2(CREBBP): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3842075: 3842075
84 CREBBP NM_004380.2(CREBBP): c.6275C> G (p.Ser2092Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 3778773: 3778773
85 CREBBP NM_004380.2(CREBBP): c.5694_5703delCACACCCCAG (p.Ser1898Argfs) deletion Pathogenic GRCh37 Chromosome 16, 3779345: 3779354
86 CREBBP NM_004380.2(CREBBP): c.4644_4645delGT (p.Leu1549Argfs) deletion Pathogenic GRCh37 Chromosome 16, 3786120: 3786121
87 CREBBP NM_004380.2(CREBBP): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3850587: 3850587
88 CREBBP NM_004380.2(CREBBP): c.472delC (p.Gln158Lysfs) deletion Pathogenic GRCh37 Chromosome 16, 3900624: 3900624
89 CREBBP NM_004380.2(CREBBP): c.1447C> T (p.Arg483Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3832811: 3832811
90 EP300 NM_001429.3(EP300): c.3262-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 22, 41157167: 41157167

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:

(showing 74, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 CREBBP EP300
2
Show member pathways
12.29 CREBBP EP300
3
Show member pathways
12.27 CREBBP EP300
4
Show member pathways
12.25 CREBBP EP300
5 12.22 CREBBP EP300
6
Show member pathways
12.2 CREBBP EP300
7
Show member pathways
12.19 CREBBP EP300
8
Show member pathways
12.19 CREBBP EP300
9
Show member pathways
12.15 CREBBP EP300
10
Show member pathways
12.15 CREBBP EP300
11 12.14 CREBBP EP300
12 12.13 CREBBP EP300
13
Show member pathways
12.09 CREBBP EP300
14 12.09 CREBBP EP300
15
Show member pathways
12.09 CREBBP EP300
16
Show member pathways
12.07 CREBBP EP300
17
Show member pathways
12.05 CREBBP EP300
18 12.03 CREBBP EP300
19
Show member pathways
12.02 CREBBP EP300
20 12.02 CREBBP EP300
21
Show member pathways
11.97 CREBBP EP300
22 11.96 CREBBP EP300
23
Show member pathways
11.94 CREBBP EP300
24
Show member pathways
11.94 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
11.79 CREBBP EP300
34 11.75 CREBBP EP300
35 11.69 CREBBP EP300
36 11.68 CREBBP EP300
37
Show member pathways
11.64 CREBBP EP300
38 11.63 CREBBP EP300
39 11.61 CREBBP EP300
40 11.59 CREBBP EP300
41
Show member pathways
11.58 CREBBP EP300
42 11.57 CREBBP EP300
43 11.56 CREBBP EP300
44 11.54 CREBBP EP300
45 11.53 CREBBP EP300
46 11.5 CREBBP EP300
47 11.49 CREBBP EP300
48 11.49 CREBBP EP300
49
Show member pathways
11.47 CREBBP EP300
50
Show member pathways
11.47 CREBBP EP300
51 11.44 CREBBP EP300
52 11.43 CREBBP EP300
53 11.42 CREBBP EP300
54 11.37 CREBBP EP300
55 11.35 CREBBP EP300
56 11.33 CREBBP EP300
57 11.31 CREBBP EP300
58
Show member pathways
11.3 CREBBP EP300
59 11.27 CREBBP EP300
60
Show member pathways
11.25 CREBBP EP300
61 11.24 CREBBP EP300
62 11.21 CREBBP EP300
63 11.19 CREBBP EP300
64
Show member pathways
11.16 CREBBP EP300
65 11.12 CREBBP EP300
66 11.09 CREBBP EP300
67
Show member pathways
11.02 CREBBP EP300
68 11 CREBBP EP300
69 10.94 CREBBP EP300
70 10.89 CREBBP EP300
71
Show member pathways
10.81 CREBBP EP300
72 10.69 CREBBP EP300
73 10.3 CREBBP EP300
74 9.97 CREBBP EP300

GO Terms for Rubinstein-Taybi Syndrome 1

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

(showing 1, show less)
# 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:

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

(showing 11, show less)
# 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 p53 binding GO:0002039 9.43 CREBBP EP300
5 damaged DNA binding GO:0003684 9.4 CREBBP EP300
6 transcription cofactor activity GO:0003712 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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