MCID: RBN001
MIFTS: 65

Rubinstein-Taybi Syndrome malady

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

Aliases & Classifications for Rubinstein-Taybi Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Rubinstein-Taybi Syndrome:

Name: Rubinstein-Taybi Syndrome 49 10 11 68 21 45 22 23 47 12 51 36 24 65
Broad Thumb-Hallux Syndrome 10 68 45 23 51 67
Rubinstein Syndrome 10 45 67
Rsts 68 45 23
Broad Thumbs-Hallux Syndrome 21 22
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 45
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 67
 
Chromosome 16p13.3 Deletion Syndrome, Proximal 65
Proximal Chromosome 16p13.3 Deletion Syndrome 10
Broad Thumbs-Halluces Syndrome 51
Rubinstein-Taybi Syndrome 1 67
Rsts1 67
Rts 23

Characteristics:

Orphanet epidemiological data:

51
rubinstein-taybi syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age

HPO:

61
rubinstein-taybi syndrome:
Onset and clinical course: variable expressivity
Inheritance: sporadic, heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 180849
Disease Ontology10 DOID:1933
ICD1027 Q87.2
MeSH36 D012415
NCIt42 C75466
SNOMED-CT59 157032007, 45582004
Orphanet51 783
UMLS via Orphanet66 C0035934
ICD10 via Orphanet28 Q87.2
MESH via Orphanet37 D012415
MedGen34 C0035934
UMLS65 C0035934, C1864648

Summaries for Rubinstein-Taybi Syndrome

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OMIM:49 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 rubinstein-taybi syndrome 2 and ep300-related rubinstein-taybi syndrome, 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 CD209 (DC-SIGN) signaling and Transcription_CREM signaling in testis. Affiliated tissues include eye, kidney and heart, and related mouse phenotypes are respiratory system and embryo.

Disease Ontology:10 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:23 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:45 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 very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. in some affected people, the cause is unknown. while rubinstein-taybi syndrome can be inherited in an autosomal dominant manner, most cases result from a new (de novo) mutation in the responsible gene and are not inherited from a parent. treatment is symptomatic and supportive. last updated: 1/14/2016

UniProtKB/Swiss-Prot:67 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:68 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...

GeneReviews summary for NBK1526

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 89)
idRelated DiseaseScoreTop Affiliating Genes
1rubinstein-taybi syndrome 212.5
2ep300-related rubinstein-taybi syndrome12.4
3crebbp-related rubinstein-taybi syndrome12.2
4rubinstein-taybi syndrome due to crebbp mutations12.2
5rubinstein-taybi syndrome due to 16p13.3 microdeletion12.2
6rubinstein-taybi syndrome due to ep300 haploinsufficiency12.2
7rothmund-thomson syndrome11.6
8atypical teratoid rhabdoid tumor11.5
9rett syndrome11.1
10chromosome 16p13.3 deletion syndrome10.8
11renal glucosuria10.5CREBBP, SRCAP
12keloids10.5
13childhood leukemia10.4CREBBP, EP300
14human t-cell leukemia virus type 210.4CREB1, CREBBP, EP300
15cervicitis10.4
16breast cancer10.4
17colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.3
18floating-harbor syndrome10.3
19coffin-lowry syndrome10.3
20scoliosis10.3
21coloboma10.3
22neuroblastoma10.2
23medulloblastoma10.2
24congenital hypothyroidism10.2
25sleep apnea10.2
26obstructive sleep apnea10.2
27hypothyroidism10.2
28thyroiditis10.2
29chiari malformation10.2
30slipped capital femoral epiphysis10.2
31immune-mediated encephalomyelitis10.2CREB1, CREBBP, EP300
32pheochromocytoma10.1
33anterior segment mesenchymal dysgenesis10.1
34smith-lemli-opitz syndrome10.1
35gastroesophageal reflux10.1
36piebaldism10.1
37pulmonary hypertension10.1
38acute leukemia10.1
39follicular lymphoma10.1
40hemangioma10.1
41hepatitis10.1
42leukemia10.1
43spondylolisthesis10.1
44brachydactyly10.1
45lymphoma10.1
46nasopharyngitis10.1
47imperforate anus10.1
48meningoencephalitis10.1
49juvenile glaucoma10.1
50microcephaly10.1

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:

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

UMLS symptoms related to Rubinstein-Taybi Syndrome:


seizures, constipation

Drugs & Therapeutics for Rubinstein-Taybi Syndrome

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Valproic Acidapproved, investigationalPhase 231199-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-PROPYL-pentanoic acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Depakote ER
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaeure
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VALPROIC acid
VPA
Valcote
Valparin
Valproate
Valproate Semisodium
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic
Valproic Acid
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
2Psychotropic DrugsPhase 25501
3Tranquilizing AgentsPhase 23597
4Neurotransmitter AgentsPhase 214795
5Histone Deacetylase InhibitorsPhase 2532
6Antimanic AgentsPhase 2663
7Central Nervous System DepressantsPhase 210016
8AnticonvulsantsPhase 22249

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic TrialCompletedNCT01619644Phase 2
2Resistant Starch on Glycemic Response in Older AdultsCompletedNCT00676767

Search NIH Clinical Center for Rubinstein-Taybi Syndrome


Cochrane evidence based reviews: 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 Syndrome22 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

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MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

33
Eye, Kidney, Heart, Brain, Bone, Testes, Lung

Animal Models for Rubinstein-Taybi Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rubinstein-Taybi Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7CREB1, CREBBP, EP300, GAS1, LRP4, PTCH1
2MP:00053808.0CREB1, CREBBP, EP300, GAS1, LRP4, NIPBL
3MP:00053828.0CREBBP, EP300, GAS1, LRP4, NIPBL, PTCH1
4MP:00053717.9CREBBP, GAS1, IGFALS, LRP4, NIPBL, PTCH1
5MP:00053847.2CREB1, CREBBP, EP300, GAS1, LRP4, NIPBL
6MP:00036316.6CREB1, CREBBP, EP300, GAS1, LRP4, NIPBL
7MP:00053786.4CREB1, CREBBP, EP300, GAS1, IGFALS, LRP4

Publications for Rubinstein-Taybi Syndrome

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Articles related to Rubinstein-Taybi Syndrome:

(show top 50)    (show all 326)
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
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome. (26275701)
2015
4
Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review. (25675181)
2015
5
Keloids in Rubinstein-Taybi syndrome: a clinical study. (25132000)
2014
6
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
7
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. (23432975)
2013
8
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome. (22591219)
2013
9
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome. (22426292)
2012
10
Rubinstein-taybi syndrome with psychosis. (23162199)
2012
11
Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case. (22244492)
2012
12
Anesthetic management of children with Rubinstein-Taybi syndrome--case reports. (22435286)
2011
13
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. (19350377)
2009
14
Lacrimal caruncle nevus associated with Rubinstein-Taybi syndrome. (18260291)
2007
15
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. (16783566)
2006
16
Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. (16913274)
2006
17
Anesthetic management of a child with Rubinstein-Taybi syndrome. (15200662)
2004
18
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (12566391)
2003
19
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. (12114483)
2002
20
General anaesthesia for a child with Rubinstein-Taybi syndrome. (12510910)
2002
21
Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. (11805525)
2002
22
Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. (12072808)
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: objective evaluation of craniofacial structure. (9286447)
1997
28
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. (8825057)
1996
29
Multiple-marker screen positive results in Rubinstein-Taybi syndrome. (8938073)
1996
30
Anaesthesia in an infant with Rubinstein-Taybi syndrome. (7702143)
1995
31
Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. (7494163)
1995
32
Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report. (8170843)
1994
33
Rubinstein-Taybi syndrome: a history in pictures. (8298745)
1993
34
Apparent dominant transmission of the Rubinstein-Taybi syndrome. (8488872)
1993
35
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. (8430692)
1993
36
Congenital dislocation of the patella in Rubinstein Taybi syndrome. (8444597)
1993
37
Rubinstein-Taybi syndrome. (1598367)
1992
38
Aortic valve reconstruction in Rubinstein-Taybi-syndrome: the valuable aid of transesophageal echocardiography. (2055929)
1991
39
Retinal detachment with high myopia in the Rubinstein-Taybi syndrome. (1818231)
1991
40
Bibliography on Rubinstein-Taybi syndrome. (2118784)
1990
41
Growth in the Rubinstein-Taybi syndrome. (2118779)
1990
42
Rubinstein-Taybi syndrome: a follow-up study. (2118781)
1990
43
Rubinstein-Taybi syndrome in The Netherlands. (2118773)
1990
44
Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome. (2801779)
1989
45
Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome. (7368907)
1980
46
Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome. (286273)
1979
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:

67 (show all 17)
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
8CREBBPp.Tyr650PheVAR_072915
9CREBBPp.Ala789ThrVAR_072916
10CREBBPp.Thr910AlaVAR_072917
11CREBBPp.Glu1278AlaVAR_072918
12CREBBPp.Asp1406TyrVAR_072919
13CREBBPp.Gln1415ProVAR_072920
14CREBBPp.Pro1475ThrVAR_072921
15CREBBPp.Tyr1503PheVAR_072922
16CREBBPp.Leu1507ProVAR_072923
17CREBBPp.Asp1543AsnVAR_072924

Clinvar genetic disease variations for Rubinstein-Taybi Syndrome:

5 (show all 76)
id Gene Variation Type Significance SNP ID Assembly Location
1CREBBPNM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter)single nucleotide variantPathogenicrs587783460GRCh37Chr 16, 3843540: 3843540
2CREBBPNM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter)single nucleotide variantPathogenicrs587783461GRCh37Chr 16, 3843447: 3843447
3CREBBPNM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter)single nucleotide variantPathogenicrs587783463GRCh37Chr 16, 3842055: 3842055
4CREBBPNM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter)single nucleotide variantPathogenicrs587783464GRCh37Chr 16, 3842042: 3842042
5CREBBPNM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs)deletionPathogenicrs587783465GRCh37Chr 16, 3831291: 3831291
6CREBBPNM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs)deletionPathogenicrs587783467GRCh37Chr 16, 3830735: 3830735
7CREBBPNM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs)deletionPathogenicrs587783469GRCh37Chr 16, 3828099: 3828099
8CREBBPNM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs)deletionPathogenicrs587783470GRCh37Chr 16, 3827649: 3827650
9CREBBPNM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter)single nucleotide variantPathogenicrs587783471GRCh37Chr 16, 3820916: 3820916
10CREBBPNM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs)deletionPathogenicrs587783473GRCh37Chr 16, 3820844: 3820845
11CREBBPNM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter)single nucleotide variantPathogenicrs587783475GRCh37Chr 16, 3820660: 3820660
12CREBBPNM_004380.2(CREBBP): c.286C> T (p.Gln96Ter)single nucleotide variantPathogenicrs587783476GRCh37Chr 16, 3900810: 3900810
13CREBBPNM_004380.2(CREBBP): c.299delG (p.Gly100Valfs)deletionPathogenicrs587783477GRCh37Chr 16, 3900797: 3900797
14CREBBPNM_004380.2(CREBBP): c.316C> T (p.Gln106Ter)single nucleotide variantPathogenicrs587783478GRCh37Chr 16, 3900780: 3900780
15CREBBPNM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter)single nucleotide variantPathogenicrs587783479GRCh37Chr 16, 3808914: 3808914
16CREBBPNM_004380.2(CREBBP): c.3369+1G> Tsingle nucleotide variantPathogenicrs587783480GRCh37Chr 16, 3808854: 3808854
17CREBBPNM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys)single nucleotide variantLikely pathogenicrs587783481GRCh37Chr 16, 3807919: 3807919
18CREBBPNM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter)single nucleotide variantPathogenicrs587783482GRCh37Chr 16, 3807374: 3807374
19CREBBPNM_004380.2(CREBBP): c.3779+1G> Asingle nucleotide variantPathogenicrs587783483GRCh37Chr 16, 3801726: 3801726
20CREBBPNM_004380.2(CREBBP): c.37A> G (p.Lys13Glu)single nucleotide variantLikely pathogenicrs587783484GRCh37Chr 16, 3929881: 3929881
21CREBBPNM_004380.2(CREBBP): c.3836+1G> Asingle nucleotide variantPathogenicrs200782888GRCh37Chr 16, 3799627: 3799627
22CREBBPNM_004380.2(CREBBP): c.3914+3G> Tsingle nucleotide variantLikely pathogenicrs587783485GRCh37Chr 16, 3795275: 3795275
23CREBBPNM_004380.2(CREBBP): c.3983-2A> Gsingle nucleotide variantPathogenicrs587783486GRCh37Chr 16, 3790552: 3790552
24CREBBPNM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro)single nucleotide variantLikely pathogenicrs587783488GRCh37Chr 16, 3790511: 3790511
25CREBBPNM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter)single nucleotide variantPathogenicrs587783489GRCh37Chr 16, 3790488: 3790488
26CREBBPNM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter)single nucleotide variantPathogenicrs587783490GRCh37Chr 16, 3790455: 3790455
27CREBBPNM_004380.2(CREBBP): c.4133+1G> Asingle nucleotide variantPathogenicrs587783491GRCh37Chr 16, 3790399: 3790399
28CREBBPNM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser)single nucleotide variantLikely pathogenicrs587783492GRCh37Chr 16, 3789633: 3789633
29CREBBPNM_004380.2(CREBBP): c.4281-11C> Gsingle nucleotide variantLikely pathogenicrs587783493GRCh37Chr 16, 3788684: 3788684
30CREBBPNM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly)single nucleotide variantLikely pathogenicrs587783494GRCh37Chr 16, 3788578: 3788578
31CREBBPNM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter)single nucleotide variantPathogenicrs147688139GRCh37Chr 16, 3786813: 3786813
32CREBBPNM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp)single nucleotide variantPathogenicrs587783495GRCh37Chr 16, 3786767: 3786767
33CREBBPNM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys)single nucleotide variantLikely pathogenicrs587783496GRCh37Chr 16, 3786766: 3786766
34CREBBPNM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys)single nucleotide variantPathogenicrs587783497GRCh37Chr 16, 3786703: 3786703
35CREBBPNM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs)deletionPathogenicrs587783499GRCh37Chr 16, 3786076: 3786076
36CREBBPNM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs)deletionPathogenicrs587783500GRCh37Chr 16, 3781875: 3781875
37CREBBPNM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro)single nucleotide variantLikely pathogenicrs587783503GRCh37Chr 16, 3781315: 3781315
38CREBBPNM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter)single nucleotide variantPathogenicrs587783505GRCh37Chr 16, 3779227: 3779227
39CREBBPNM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs)deletionPathogenicrs587783506GRCh37Chr 16, 3779204: 3779214
40CREBBPNM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs)deletionPathogenicrs587783507GRCh37Chr 16, 3779211: 3779211
41CREBBPNM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs)deletionPathogenicrs587783508GRCh37Chr 16, 3779179: 3779179
42CREBBPNM_004380.2(CREBBP): c.598C> T (p.Gln200Ter)single nucleotide variantPathogenicrs587783509GRCh37Chr 16, 3900498: 3900498
43CREBBPNM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter)single nucleotide variantPathogenicrs587783510GRCh37Chr 16, 3778960: 3778960
44CREBBPNM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del)deletionLikely pathogenicrs587783511GRCh37Chr 16, 3778877: 3778918
45CREBBPNM_004380.2(CREBBP): c.86-2A> Csingle nucleotide variantPathogenicrs587783515GRCh37Chr 16, 3901012: 3901012
46CREBBPNM_004380.2(CREBBP): c.953C> A (p.Ser318Ter)single nucleotide variantPathogenicrs587783516GRCh37Chr 16, 3860626: 3860626
47CREBBPNM_004380.2(CREBBP): c.2685delC (p.Gln897Argfs)deletionPathogenicrs794727124GRCh37Chr 16, 3820766: 3820766
48CREBBPNM_004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs)deletionPathogenicrs794727391GRCh38Chr 16, 3740539: 3740539
49CREBBPNM_004380.2(CREBBP): c.5614A> G (p.Met1872Val)single nucleotide variantLikely pathogenicrs797045037GRCh38Chr 16, 3729433: 3729433
50CREBBPNM_004380.2(CREBBP): c.(?_-23)_85+?deldeletionPathogenicGRCh38Chr 16, 3879832: 3879939
51CREBBPNM_004380.2(CREBBP): c.2178dupC (p.Met727Hisfs)duplicationPathogenicrs797045483GRCh37Chr 16, 3824675: 3824675
52CREBBPNM_004380.2(CREBBP): c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs)indelPathogenicrs797045484GRCh38Chr 16, 3770760: 3770771
53CREBBPNM_004380.2(CREBBP): c.2810dupC (p.Ser938Valfs)duplicationPathogenicrs797045485GRCh37Chr 16, 3820641: 3820641
54CREBBPNM_004380.2(CREBBP): c.282dupC (p.Val95Argfs)duplicationPathogenicrs797045486GRCh37Chr 16, 3900814: 3900814
55CREBBPNM_004380.2(CREBBP): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs797045487GRCh37Chr 16, 3929916: 3929916
56CREBBPNM_004380.2(CREBBP): c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs)indelPathogenicrs797045488GRCh38Chr 16, 3767885: 3767893
57CREBBPNM_004380.2(CREBBP): c.3436C> T (p.Gln1146Ter)single nucleotide variantPathogenicrs797045489GRCh37Chr 16, 3807983: 3807983
58CREBBPNM_004380.2(CREBBP): c.3461dupT (p.Asp1155Glyfs)duplicationPathogenicrs797045490GRCh38Chr 16, 3757957: 3757957
59CREBBPNM_004380.2(CREBBP): c.348_349dupTG (p.Ala117Valfs)duplicationPathogenicrs797045491GRCh37Chr 16, 3900747: 3900748
60CREBBPNM_004380.2(CREBBP): c.3490G> C (p.Ala1164Pro)single nucleotide variantLikely pathogenicrs797045492GRCh37Chr 16, 3807929: 3807929
61CREBBPNM_004380.2(CREBBP): c.4281G> T (p.Arg1427Ser)single nucleotide variantLikely pathogenicrs797045494GRCh38Chr 16, 3738672: 3738672
62CREBBPNM_004380.2(CREBBP): c.5027G> A (p.Trp1676Ter)single nucleotide variantPathogenicrs797045495GRCh38Chr 16, 3731337: 3731337
63CREBBPNM_004380.2(CREBBP): c.5412C> A (p.His1804Gln)single nucleotide variantLikely pathogenicrs797045496GRCh37Chr 16, 3779636: 3779636
64CREBBPNM_004380.2(CREBBP): c.5837dupC (p.Pro1947Thrfs)duplicationPathogenicrs797045497GRCh37Chr 16, 3779211: 3779211
65CREBBPNM_004380.2(CREBBP): c.5936_5937insT (p.Ser1980Glnfs)insertionPathogenicrs797045498GRCh38Chr 16, 3729110: 3729111
66CREBBPNM_004380.2(CREBBP): c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs)deletionPathogenicrs797045499GRCh38Chr 16, 3728931: 3728940
67CREBBPNM_004380.2(CREBBP): c.6395_6417dup23 (p.Gln2140Alafs)duplicationPathogenicrs797045500GRCh38Chr 16, 3728630: 3728652
68CREBBPNM_004380.2(CREBBP): c.827_828dupTT (p.Gly277Leufs)duplicationPathogenicrs797045502GRCh38Chr 16, 3810750: 3810751
69CREBBPNM_004380.2(CREBBP): c.86-1G> Tsingle nucleotide variantPathogenicrs11644721GRCh37Chr 16, 3901011: 3901011
70CREBBPNM_004380.2(CREBBP): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121434624GRCh37Chr 16, 3900690: 3900690
71CREBBPNM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter)single nucleotide variantPathogenicrs121434625GRCh37Chr 16, 3843534: 3843534
72CREBBPNM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro)single nucleotide variantPathogenicrs121434626GRCh37Chr 16, 3790400: 3790400
73CREBBPCREBBP, 2-BP DEL, NT5222deletionPathogenic
74CREBBPNM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys)single nucleotide variantPathogenicrs28937315GRCh37Chr 16, 3807895: 3807895
75CREBBPNM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys)single nucleotide variantPathogenicrs267606752GRCh37Chr 16, 3799632: 3799632
76CREBBPCREBBP, 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 all 17)
idSuper pathwaysScoreTop Affiliating Genes
110.0CREBBP, EP300
210.0CREB1, CREBBP
39.8CREB1, CREBBP, EP300
49.8CREB1, CREBBP, EP300
59.8CREB1, CREBBP, EP300
69.8CREB1, CREBBP, EP300
79.8CREB1, CREBBP, EP300
89.8CREB1, CREBBP, EP300
9
Show member pathways
9.8CREB1, CREBBP, EP300
109.7CREBBP, EP300, GAS1
119.5ADCY9, CREB1, CREBBP, EP300
129.4ADCY9, CREB1, PDE4A
13
Show member pathways
9.3CREBBP, GAS1, PTCH1
14
Show member pathways
8.9ADCY9, CREB1, CREBBP, EP300, PTCH1
15
Show member pathways
8.7ADCY9, CREB1, CREBBP, EP300, GAS1, SLC9A6
16
Show member pathways
8.5ADCY9, CREB1, CREBBP, EP300, GAS1, PTCH1
17
Show member pathways
8.3ADCY9, CREB1, CREBBP, EP300, PDE4A, PTCH1

GO Terms for genes affiliated with Rubinstein-Taybi Syndrome

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular response to UVGO:003464410.5CREBBP, EP300
2N-terminal peptidyl-lysine acetylationGO:001807610.5CREBBP, EP300
3positive regulation of multicellular organism growthGO:004001810.3CREB1, NIPBL
4histone acetylationGO:001657310.2CREBBP, EP300, SRCAP
5cellular response to nerve growth factor stimulusGO:199009010.1CREB1, EP300
6developmental growthGO:004858910.0GAS1, NIPBL
7Notch signaling pathwayGO:000721910.0CREB1, CREBBP, EP300
8regulation of smoothened signaling pathwayGO:00085899.9GAS1, PTCH1
9dorsal/ventral pattern formationGO:00099539.9LRP4, PTCH1
10mammary gland developmentGO:00308799.8CREB1, PTCH1
11viral processGO:00160329.5CREB1, CREBBP, EP300, SRCAP

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:004633210.0CREBBP, EP300

Sources for Rubinstein-Taybi Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet