MCID: RBN001
MIFTS: 67

Rubinstein-Taybi Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Cancer diseases, Mental diseases, Smell/Taste diseases categories

Summaries for Rubinstein-Taybi Syndrome

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OMIM:45 Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal... (180849) more...

MalaCards based summary: Rubinstein-Taybi Syndrome, also known as broad thumb-hallux syndrome, is related to floating-harbor syndrome and mental retardation, and has symptoms including abnormality of the palate, hypertelorism and convex nasal ridge. An important gene associated with Rubinstein-Taybi Syndrome is CREBBP (CREB binding protein), and among its related pathways are Circadian Repression of Expression by REV-ERBA and Signaling events mediated by HDAC Class III. The compounds bicalutamide and thymine have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related mouse phenotypes are respiratory system and embryogenesis.

Disease Ontology:9 An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 Rubinstein-taybi syndrome is a condition characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. the condition may be caused by a mutation in the crebbp or ep300 gene, or as the result of a deletion of genetic material from the short (p) arm of chromosome 16. in some affected people, the cause is unknown. while rubinstein-taybi syndrome is inherited in an autosomal dominant manner, most cases result from a new mutation in the responsible gene and are not inherited from a parent. treatment is symptomatic and supportive. last updated: 12/2/2014

Wikipedia:63 Rubinstein?Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a... more...

GeneReviews summary for rsts

Aliases & Classifications for Rubinstein-Taybi Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 27ICD9CM, 33MeSH, 55SNOMED-CT, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Rubinstein-Taybi Syndrome, Aliases & Descriptions:

Name: Rubinstein-Taybi Syndrome 45 9 10 63 19 41 20 21 11 43 47 22 60
Broad Thumb-Hallux Syndrome 9 63 41 21 47
Rsts 63 41 21
Broad Thumbs-Halluces Syndrome 41 47
Rubinstein Syndrome 9 41
 
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 41
Chromosome 16p13.3 Deletion Syndrome, Proximal 60
Proximal Chromosome 16p13.3 Deletion Syndrome 9
Broad Thumbs-Hallux Syndrome 19
Rts 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
rubinstein-taybi syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

OMIM45 180849
Disease Ontology9 DOID:1933
ICD9CM27 759.89
NCIt38 C75466
SNOMED-CT55 157032007, 45582004
Orphanet47 783
MESH via Orphanet34 D012415
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet61 C0035934

Related Diseases for Rubinstein-Taybi Syndrome

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Diseases in the Rubinstein-Taybi Syndrome family:

Rubinstein-Taybi Syndrome 2 Rubinstein Taybi Like Syndrome
Crebbp-Related Rubinstein-Taybi Syndrome Ep300-Related Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome Due to Crebbp Mutations Rubinstein-Taybi Syndrome Due to Ep300 Haploinsufficiency

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

(show top 50)    (show all 302)
idRelated DiseaseScoreTop Affiliating Genes
1floating-harbor syndrome31.0SRCAP
2mental retardation30.5CREBBP, CREB1, PAX6, EP300
3colorectal cancer30.4EP300, CREBBP, CREB1
4t-cell leukemia30.3CREB1, CREBBP, EP300
5leukemia30.1PAX6, EP300, CREBBP, CREB1
6glioblastoma30.0PAX6, PDE4A, CREB1
7schizophrenia29.5PAX6, PDE4A, CREB1
8breast cancer10.7
9keloids10.7
10rubinstein-taybi syndrome 210.7
11cervicitis10.6
12ep300-related rubinstein-taybi syndrome10.6
13prostatitis10.6
14melanoma10.5
15scoliosis10.5
16crebbp-related rubinstein-taybi syndrome10.5
17rubinstein-taybi syndrome due to crebbp mutations10.5
18rubinstein-taybi syndrome due to 16p13.3 microdeletion10.5
19rubinstein-taybi syndrome due to ep300 haploinsufficiency10.5
20prostate cancer10.5
21myeloid leukemia10.5
22sarcoma10.5
23medulloblastoma10.4
24neuroblastoma10.4
25obstructive sleep apnea10.4
26congenital hypothyroidism10.4
27coloboma10.4
28hypothyroidism10.4
29sleep apnea10.4
30thyroiditis10.4
31chiari malformation10.4
32slipped capital femoral epiphysis10.4
33peritonitis10.4
34monocytic leukemia10.4EP300
35lung cancer10.4
36adenocarcinoma10.4
37influenza10.3
38endotheliitis10.3
39newcastle disease10.3
40atypical teratoid rhabdoid tumor10.3
41rothmund-thomson syndrome10.3
42hepatitis a10.3
43encephalitis10.3
44anterior segment mesenchymal dysgenesis10.3
45smith-lemli-opitz syndrome10.3
46gastroesophageal reflux10.3
47coffin-lowry syndrome10.3
48pheochromocytoma10.3
49colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.3
50piebaldism10.3

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



Diseases related to rubinstein-taybi syndrome

Symptoms for Rubinstein-Taybi Syndrome

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Symptoms by clinical synopsis from OMIM:

180849

Clinical features from OMIM:

180849

Symptoms:

 47 (show all 41)
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • telecanthus/canthal dystopy
  • beaked nose
  • high vaulted/narrow palate
  • short hand/brachydactyly
  • broad/bifid thumb
  • broad/bifid big toe
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperextensible joints/articular hyperlaxity
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • strabismus/squint
  • high arched eyebrows
  • epicanthic folds
  • defect/anomaly of lacrimal system
  • broad nasal root
  • anomalies of teeth and dentition
  • multiple caries
  • low set ears/posteriorly rotated ears
  • terminal/third phalangeal bone of fingers broadened/deviated
  • clinodactyly of fifth finger
  • terminal broadening/clubbing of toes
  • hirsutism/hypertrichosis/increased body hair
  • constipation
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hyperactivity/attention deficit
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • ptosis
  • hearing loss/hypoacusia/deafness
  • syndactyly of fingers/interdigital palm
  • abnormal scarring/cheloids/hypertrophic scars
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • polyhydramnios

HPO human phenotypes related to Rubinstein-Taybi Syndrome:

(show all 157)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 hypertelorism hallmark (90%) HP:0000316
3 convex nasal ridge hallmark (90%) HP:0000444
4 downslanted palpebral fissures hallmark (90%) HP:0000494
5 telecanthus hallmark (90%) HP:0000506
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 joint hypermobility hallmark (90%) HP:0001382
8 preaxial foot polydactyly hallmark (90%) HP:0001841
9 short stature hallmark (90%) HP:0004322
10 abnormality of thumb phalanx hallmark (90%) HP:0009602
11 cognitive impairment hallmark (90%) HP:0100543
12 cryptorchidism typical (50%) HP:0000028
13 microcephaly typical (50%) HP:0000252
14 epicanthus typical (50%) HP:0000286
15 micrognathia typical (50%) HP:0000347
16 low-set, posteriorly rotated ears typical (50%) HP:0000368
17 wide nasal bridge typical (50%) HP:0000431
18 strabismus typical (50%) HP:0000486
19 glaucoma typical (50%) HP:0000501
20 lacrimation abnormality typical (50%) HP:0000632
21 carious teeth typical (50%) HP:0000670
22 hypertrichosis typical (50%) HP:0000998
23 constipation typical (50%) HP:0002019
24 respiratory insufficiency typical (50%) HP:0002093
25 highly arched eyebrow typical (50%) HP:0002553
26 malformation of the heart and great vessels typical (50%) HP:0002564
27 clinodactyly of the 5th finger typical (50%) HP:0004209
28 attention deficit hyperactivity disorder typical (50%) HP:0007018
29 abnormality of the distal phalanx of finger typical (50%) HP:0009832
30 clubbing of toes typical (50%) HP:0100760
31 hearing impairment occasional (7.5%) HP:0000365
32 ptosis occasional (7.5%) HP:0000508
33 atypical scarring of skin occasional (7.5%) HP:0000987
34 seizures occasional (7.5%) HP:0001250
35 polyhydramnios occasional (7.5%) HP:0001561
36 abnormality of the hip bone occasional (7.5%) HP:0003272
37 finger syndactyly occasional (7.5%) HP:0006101
38 autosomal dominant inheritance HP:0000006
39 cryptorchidism HP:0000028
40 hypospadias HP:0000047
41 shawl scrotum HP:0000049
42 abnormality of the kidney HP:0000077
43 bifid uterus HP:0000136
44 narrow mouth HP:0000160
45 narrow palate HP:0000189
46 high palate HP:0000218
47 microcephaly HP:0000252
48 wide anterior fontanel HP:0000260
49 delayed cranial suture closure HP:0000270
50 facial grimacing HP:0000273
51 retrognathia HP:0000278
52 epicanthus HP:0000286
53 low anterior hairline HP:0000294
54 hypoplasia of the maxilla HP:0000327
55 micrognathia HP:0000347
56 hearing impairment HP:0000365
57 low-set ears HP:0000369
58 abnormality of the pinna HP:0000377
59 wide nasal bridge HP:0000431
60 convex nasal ridge HP:0000444
61 abnormality of the cornea HP:0000481
62 strabismus HP:0000486
63 deeply set eye HP:0000490
64 downslanted palpebral fissures HP:0000494
65 glaucoma HP:0000501
66 ptosis HP:0000508
67 cataract HP:0000518
68 proptosis HP:0000520
69 long eyelashes HP:0000527
70 abnormality of refraction HP:0000539
71 thick eyebrow HP:0000574
72 nasolacrimal duct obstruction HP:0000579
73 coloboma HP:0000589
74 dental crowding HP:0000678
75 dental malocclusion HP:0000689
76 autism HP:0000717
77 stereotypic behavior HP:0000733
78 short attention span HP:0000736
79 self-mutilation HP:0000742
80 delayed speech and language development HP:0000750
81 hyperactivity HP:0000752
82 agoraphobia HP:0000756
83 pectus excavatum HP:0000767
84 single transverse palmar crease HP:0000954
85 cafe-au-lait spot HP:0000957
86 hirsutism HP:0001007
87 high axial triradius HP:0001042
88 chorioretinal dystrophy HP:0001135
89 syndactyly HP:0001159
90 prominent fingertip pads HP:0001212
91 intellectual disability HP:0001249
92 seizures HP:0001250
93 muscular hypotonia HP:0001252
94 agenesis of corpus callosum HP:0001274
95 bimanual synkinesia HP:0001335
96 hyperreflexia HP:0001347
97 flexion contracture HP:0001371
98 joint laxity HP:0001388
99 heterogeneous HP:0001425
100 failure to thrive HP:0001508
101 polyhydramnios HP:0001561
102 laryngomalacia HP:0001601
103 ventricular septal defect HP:0001629
104 defect in the atrial septum HP:0001631
105 patent ductus arteriosus HP:0001643
106 pes planus HP:0001763
107 truncal obesity HP:0001956
108 frontal bossing HP:0002007
109 constipation HP:0002019
110 tethered cord HP:0002144
111 low posterior hairline HP:0002162
112 phonophobia HP:0002183
113 frontal upsweep of hair HP:0002236
114 aganglionic megacolon HP:0002251
115 unsteady gait HP:0002317
116 eeg abnormality HP:0002353
117 poor coordination HP:0002370
118 highly arched eyebrow HP:0002553
119 scoliosis HP:0002650
120 parietal foramina HP:0002697
121 large foramen magnum HP:0002700
122 delayed skeletal maturation HP:0002750
123 recurrent upper respiratory tract infections HP:0002788
124 hypoplastic iliac wings HP:0002866
125 flared iliac wings HP:0002869
126 obstructive sleep apnea HP:0002870
127 respiratory difficulties HP:0002880
128 patellar dislocation HP:0002999
129 dislocated radial head HP:0003083
130 spina bifida occulta HP:0003298
131 abnormality of the cervical spine HP:0003319
132 sporadic HP:0003745
133 variable expressivity HP:0003828
134 clinodactyly of the 5th finger HP:0004209
135 short stature HP:0004322
136 deviated nasal septum HP:0004411
137 capillary hemangiomas HP:0005306
138 avascular necrosis of the capital femoral epiphysis HP:0005743
139 radial deviation of thumb terminal phalanx HP:0005895
140 hypoplasia of dental enamel HP:0006297
141 abnormal number of teeth HP:0006483
142 plantar crease between first and second toes HP:0008107
143 feeding difficulties in infancy HP:0008872
144 postnatal growth retardation HP:0008897
145 papillary cystadenoma of the epididymis HP:0009715
146 low hanging columella HP:0009765
147 duane anomaly HP:0009921
148 broad hallux HP:0010055
149 duplication of phalanx of hallux HP:0010066
150 premature thelarche HP:0010314
151 polydactyly HP:0010442
152 keloids HP:0010562
153 vascular ring HP:0010775
154 talon cusp HP:0011087
155 broad thumb HP:0011304
156 arrhythmia HP:0011675
157 impulsivity HP:0100710

Drugs & Therapeutics for Rubinstein-Taybi Syndrome

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Drug clinical trials:

Search ClinicalTrials for Rubinstein-Taybi Syndrome

Search NIH Clinical Center for Rubinstein-Taybi Syndrome

Genetic Tests for Rubinstein-Taybi Syndrome

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Genetic tests related to Rubinstein-Taybi Syndrome:

id Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome20 22 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

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MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

31
Eye, Heart, Kidney, Brain, Bone, Testes, Lung, Skin, Uterus, Thyroid, Spinal cord, Pituitary

Animal Models for Rubinstein-Taybi Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rubinstein-Taybi Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4PAX6, EP300, CREBBP, CREB1
2MP:00053808.3CREB1, CREBBP, EP300, PAX6
3MP:00053698.2CREB1, CREBBP, EP300, PAX6
4MP:00053878.0PAX6, EP300, ADCY9, PDE4A, CREBBP
5MP:00053857.9CREB1, CREBBP, PDE4A, EP300, PAX6
6MP:00036317.5PAX6, EP300, PDE4A, CREBBP, CREB1

Publications for Rubinstein-Taybi Syndrome

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Articles related to Rubinstein-Taybi Syndrome:

(show top 50)    (show all 299)
idTitleAuthorsYear
1
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. (25599811)
2015
2
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. (25712426)
2015
3
Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review. (25675181)
2015
4
Keloids in Rubinstein-Taybi syndrome: a clinical study. (25132000)
2014
5
Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome. (24247805)
2013
6
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
2013
7
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome. (22591219)
2013
8
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome. (22426292)
2012
9
Rubinstein-taybi syndrome with psychosis. (23162199)
2012
10
Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case. (22244492)
2012
11
Anesthetic management of children with Rubinstein-Taybi syndrome--case reports. (22435286)
2011
12
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. (19350377)
2009
13
Lacrimal caruncle nevus associated with Rubinstein-Taybi syndrome. (18260291)
2007
14
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. (16783566)
2006
15
Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. (16913274)
2006
16
Anesthetic management of a child with Rubinstein-Taybi syndrome. (15200662)
2004
17
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (12566391)
2003
18
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. (12114483)
2002
19
General anaesthesia for a child with Rubinstein-Taybi syndrome. (12510910)
2002
20
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. (11805525)
2002
21
Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. (12072808)
2002
22
Stenosis of the lachrymal system in Rubinstein-Taybi syndrome. (12207132)
2002
23
Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy. (10337678)
1999
24
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. (10573006)
1999
25
Two sisters with different chromosomal microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome. (9831356)
1998
26
Pediatric case of the day. Rubinstein-Taybi syndrome. (9397469)
1997
27
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. (8825057)
1996
28
Multiple-marker screen positive results in Rubinstein-Taybi syndrome. (8938073)
1996
29
Anaesthesia in an infant with Rubinstein-Taybi syndrome. (7702143)
1995
30
Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. (7494163)
1995
31
Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report. (8170843)
1994
32
Rubinstein-Taybi syndrome: a history in pictures. (8298745)
1993
33
Apparent dominant transmission of the Rubinstein-Taybi syndrome. (8488872)
1993
34
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. (8430692)
1993
35
Congenital dislocation of the patella in Rubinstein Taybi syndrome. (8444597)
1993
36
Rubinstein-Taybi syndrome. (1598367)
1992
37
Aortic valve reconstruction in Rubinstein-Taybi-syndrome: the valuable aid of transesophageal echocardiography. (2055929)
1991
38
Retinal detachment with high myopia in the Rubinstein-Taybi syndrome. (1818231)
1991
39
Bibliography on Rubinstein-Taybi syndrome. (2118784)
1990
40
Growth in the Rubinstein-Taybi syndrome. (2118779)
1990
41
Rubinstein-Taybi syndrome: a follow-up study. (2118781)
1990
42
Rubinstein-Taybi syndrome in The Netherlands. (2118773)
1990
43
Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome. (2801779)
1989
44
Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome. (7368907)
1980
45
Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome. (286273)
1979
46
Behavioral characteristics of three children with the broad thumb-hallux (Rubinstein-Taybi) syndrome. (871491)
1977
47
Trisomy 13 and Rubinstein-Taybi syndrome. (1121015)
1975
48
The Rubinstein-Taybi syndrome. A clinical and muscle electron microscopic study. (4118155)
1972
49
Intraspinal neurilemoma in association with the Rubinstein-Taybi syndrome. (5100783)
1971
50
The Rubinstein-Taybi syndrome: a report of two cases. (5651233)
1968

Variations for Rubinstein-Taybi Syndrome

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

62
id Symbol AA change Variation ID SNP ID
1CREBBPp.Arg1378ProVAR_015578
2CREBBPp.Glu1278LysVAR_035080
3CREBBPp.Thr1447IleVAR_035081
4CREBBPp.Tyr1450HisVAR_035082
5CREBBPp.His1470ArgVAR_035083
6CREBBPp.Arg1664HisVAR_035084
7CREBBPp.Tyr1175CysVAR_037305rs28937315

Clinvar genetic disease variations for Rubinstein-Taybi Syndrome:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1EP300EP300, 4-BP DEL, NT104deletionPathogenic
2CREBBPNM_004380.2(CREBBP): c.2728A> G (p.Thr910Ala)single nucleotide variantPathogenicrs143247685GRCh37Chr 16, 3820723: 3820723
3EP300EP300, 1-BP DEL, 638GdeletionPathogenic
4EP300NM_001429.3(EP300): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs137853039GRCh37Chr 22, 41537115: 41537115
5EP300EP300, 8-BP DEL, NT2877deletionPathogenic
6EP300EP300, EX1DELdeletionPathogenic
7EP300EP300, 1-BP DEL, 7100CdeletionPathogenic
8EP300EP300, EX3-8DELdeletionPathogenic
9CREBBPNM_004380.2(CREBBP): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121434624GRCh37Chr 16, 3900690: 3900690
10CREBBPNM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter)single nucleotide variantPathogenicrs121434625GRCh37Chr 16, 3843534: 3843534
11CREBBPNM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro)single nucleotide variantPathogenicrs121434626GRCh37Chr 16, 3790400: 3790400
12CREBBPCREBBP, 2-BP DEL, NT5222deletionPathogenic
13CREBBPNM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys)single nucleotide variantPathogenicrs28937315GRCh37Chr 16, 3807895: 3807895
14CREBBPNM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys)single nucleotide variantPathogenicrs267606752GRCh37Chr 16, 3799632: 3799632
15CREBBPCREBBP, IVS21, A-T, -2single nucleotide variantPathogenic

Expression for genes affiliated with Rubinstein-Taybi Syndrome

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

Pathways for genes affiliated with Rubinstein-Taybi Syndrome

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

(show top 50)    (show all 88)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7EP300, CREBBP
29.7EP300, CREBBP
39.7EP300, CREBBP
4
Show member pathways
DNA damage Role of SUMO in p53 regulation58
9.7EP300, CREBBP
5
Show member pathways
FOXA transcription factor networks36
9.7EP300, CREBBP
69.7CREBBP, EP300
79.7CREBBP, EP300
8
Show member pathways
9.7CREBBP, EP300
99.3CREB1, CREBBP
109.2CREB1, EP300
11
Show member pathways
9.2CREB1, EP300
129.0CREB1, ADCY9
13
Show member pathways
9.0CREB1, ADCY9
14
Show member pathways
8.9EP300, CREBBP, CREB1
158.9EP300, CREB1, CREBBP
16
Show member pathways
8.9CREB1, CREBBP, EP300
178.9CREB1, CREBBP, EP300
18
Show member pathways
8.9CREB1, CREBBP, EP300
198.9EP300, CREBBP, CREB1
20
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.9EP300, CREBBP, CREB1
21
Show member pathways
8.9CREB1, CREBBP, EP300
22
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
8.9EP300, CREB1, CREBBP
23
Show member pathways
8.9CREB1, EP300, CREBBP
248.9CREB1, EP300, CREBBP
258.9CREB1, CREBBP, EP300
26
Show member pathways
8.9CREB1, EP300, CREBBP
278.9EP300, CREBBP, CREB1
28
Show member pathways
8.9EP300, CREBBP, CREB1
29
Show member pathways
Development Ligand independent activation of ESR1 and ESR258
8.9CREB1, CREBBP, EP300
308.9CREBBP, EP300, CREB1
318.9CREBBP, EP300, CREB1
32
Show member pathways
8.9CREBBP, CREB1, EP300
338.9CREBBP, EP300, CREB1
34
Show member pathways
Signaling Pathways in Glioblastoma36
8.9CREBBP, EP300, CREB1
358.7CREBBP, ADCY9, CREB1
36
Show member pathways
8.5PDE4A, ADCY9, CREB1
378.5ADCY9, PDE4A, CREB1
38
Show member pathways
Development Beta adrenergic receptors regulation of ERK58
G protein signaling G Protein alpha s signaling cascades58
G protein signaling G Protein beta gamma signaling cascades58
8.5ADCY9, PDE4A, CREB1
39
Show member pathways
8.5ADCY9, PDE4A, CREB1
40
Show member pathways
Signal transduction cAMP signaling58
8.5ADCY9, PDE4A, CREB1
41
Show member pathways
8.3CREBBP, PAX6, EP300, CREB1
42
Show member pathways
8.2EP300, ADCY9, CREBBP, CREB1
438.2CREB1, EP300, CREBBP, ADCY9
44
Show member pathways
8.2CREB1, EP300, ADCY9, CREBBP
45
Show member pathways
8.2EP300, ADCY9, CREBBP, CREB1
46
Show member pathways
8.2EP300, ADCY9, CREBBP, CREB1
47
Show member pathways
8.2ADCY9, CREB1, CREBBP, EP300
488.2CREBBP, CREB1, EP300, ADCY9
49
Show member pathways
7.7PAX6, CREB1, CREBBP, ADCY9, EP300
50
Show member pathways
7.7CREBBP, CREB1, PDE4A, ADCY9, EP300

Compounds for genes affiliated with Rubinstein-Taybi Syndrome

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

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1bicalutamide43 59 1212.0CREBBP, EP300
2thymine43 2411.0EP300, CREBBP
3amino acid4310.0CREBBP, PDE4A
4phenylephrine43 28 24 1212.8CREBBP, EP300
5sq 2253643 5910.7PDE4A, ADCY9
6Cyclic GMP249.6ADCY9, PDE4A
7asparagine439.6EP300, PDE4A, CREBBP
82,5-dideoxyadenosine439.6CREB1, PDE4A
9proglucagon439.5CREB1, PAX6
10tamoxifen43 49 28 1212.5CREBBP, PDE4A, EP300
11phosphoserine43 2410.5CREB1, CREBBP
12cilostazol43 1210.5PDE4A, CREB1
13kt 572043 59 2811.5PDE4A, CREB1
14phosphoenolpyruvate43 1210.5CREB1, CREBBP
15budesonide43 49 1211.4PDE4A, CREB1
16proline439.4PAX6, EP300, CREBBP
17rolipram43 59 2811.4CREB1, PDE4A
1815-deoxy-delta-12,14-prostaglandin j2439.4CREB1, EP300
19prostaglandin f2alpha439.3CREB1, PDE4A
20rosiglitazone28 43 49 24 1213.3CREB1, CREBBP, EP300
21retinoid439.3CREB1, CREBBP, EP300
22etoposide43 49 59 1212.3CREB1, CREBBP, EP300
23butyrate439.2CREB1, CREBBP, EP300
24pge1439.2CREB1, PDE4A
25dbc-amp439.2CREB1, CREBBP, PDE4A
26isoproterenol43 1210.2CREB1, CREBBP, PDE4A
27progesterone43 28 59 24 1213.2EP300, PDE4A, CREBBP
28nmda43 2810.1CREB1, CREBBP, PDE4A
29arginine439.1PAX6, EP300, PDE4A, CREBBP
30ly294002439.1EP300, PDE4A, CREB1
31wortmannin439.0CREB1, PDE4A, EP300
32melatonin43 28 59 24 1213.0CREB1, PDE4A
33actinomycin d439.0CREB1, PDE4A, EP300
34glucose439.0PAX6, EP300, PDE4A, CREBBP
35pd 98,059438.8CREB1, CREBBP, PDE4A, EP300
36glutamine438.8EP300, PDE4A, CREBBP, CREB1
37pge2438.8CREB1, CREBBP, PDE4A, EP300
38steroid438.8EP300, PDE4A, CREBBP, CREB1
39zinc43 249.8EP300, PDE4A, CREBBP, CREB1
40threonine438.7PAX6, EP300, CREBBP, CREB1
41atp43 289.7EP300, PDE4A, CREBBP, CREB1
42adenylate438.7ADCY9, PDE4A, CREB1
43forskolin43 49 1210.6ADCY9, PDE4A, CREBBP, CREB1
44tyrosine438.3CREB1, CREBBP, PDE4A, EP300
45vegf438.3PAX6, EP300, PDE4A, CREBBP, CREB1
46retinoic acid43 249.3PAX6, EP300, PDE4A, CREBBP, CREB1
47serine438.2PAX6, EP300, PDE4A, CREBBP, CREB1
48magnesium43 24 1210.2ADCY9, PDE4A, CREB1
49cyclic amp43 249.2CREB1, CREBBP, PDE4A, ADCY9, EP300
50calcium43 49 24 1211.1EP300, ADCY9, PDE4A, CREBBP, CREB1

GO Terms for genes affiliated with Rubinstein-Taybi Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase complexGO:00001239.6CREBBP, EP300
2nuclear chromatinGO:00007909.6CREBBP, PAX6
3transcription factor complexGO:00056678.6CREB1, CREBBP, EP300

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1N-terminal peptidyl-lysine acetylationGO:001807610.0CREBBP, EP300
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.9CREBBP, EP300
3histone acetylationGO:00165739.8CREBBP, SRCAP
4positive regulation of type I interferon productionGO:00324819.7EP300, CREBBP
5organ morphogenesisGO:00098879.5EP300, PAX6
6cellular response to hypoxiaGO:00714569.4CREBBP, EP300
7pituitary gland developmentGO:00219839.2CREB1, PAX6
8Notch signaling pathwayGO:00072199.1CREB1, CREBBP, EP300
9activation of phospholipase C activityGO:00072029.1CREB1, ADCY9
10positive regulation of transcription, DNA-templatedGO:00458938.7CREB1, CREBBP, PAX6
11viral processGO:00160328.7EP300, SRCAP, CREBBP, CREB1
12innate immune responseGO:00450878.5EP300, ADCY9, CREBBP, CREB1
13signal transductionGO:00071658.3ADCY9, PDE4A, CREBBP, CREB1

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

idNameGO IDScoreTop Affiliating Genes
1acetyltransferase activityGO:00164079.7CREBBP, EP300
2p53 bindingGO:00020399.7CREBBP, EP300
3histone acetyltransferase activityGO:00044029.3CREBBP, SRCAP, EP300
4transcription coactivator activityGO:00037139.1EP300, SRCAP, CREBBP
5RNA polymerase II activating transcription factor bindingGO:00011029.0CREB1, CREBBP, EP300
6transcription factor bindingGO:00081348.9CREBBP, EP300, PAX6

Products for genes affiliated with Rubinstein-Taybi Syndrome

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Sources for Rubinstein-Taybi Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet