MCID: RBN021
MIFTS: 32

Rubinstein-Taybi Syndrome 1

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

Aliases & Classifications for Rubinstein-Taybi Syndrome 1

MalaCards integrated aliases for Rubinstein-Taybi Syndrome 1:

Name: Rubinstein-Taybi Syndrome 1 54 71
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 71
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 56
Broad Thumb-Hallux Syndrome 71
Rubinstein-Taybi Syndrome 69
Rubinstein Syndrome 71
Rsts1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
incidence of 1 in 100,000 to 125,000 at birth
majority of cases are due to de novo mutation
truncating mutations in crebbp found in 10% of patients


HPO:

32
rubinstein-taybi syndrome 1:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 54 180849
Orphanet 56 ORPHA353277
ICD10 via Orphanet 34 Q87.2
MedGen 40 C0035934
MeSH 42 D012415

Summaries for Rubinstein-Taybi Syndrome 1

OMIM : 54
Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006). Floating-Harbor syndrome (136140), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (611421), a coactivator for CREBBP. (180849)

MalaCards based summary : Rubinstein-Taybi Syndrome 1, also known as broad thumbs great toes characteristic facies and mental retardation, is related to chromosome 16p13.3 deletion syndrome, proximal and crebbp-related rubinstein-taybi syndrome, and has symptoms including short stature, failure to thrive and scoliosis. An important gene associated with Rubinstein-Taybi Syndrome 1 is CREBBP (CREB Binding Protein). The drugs Valproic Acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and kidney.

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
Crebbp-Related Rubinstein-Taybi Syndrome Ep300-Related Rubinstein-Taybi Syndrome

Diseases related to Rubinstein-Taybi Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 chromosome 16p13.3 deletion syndrome, proximal 11.6
2 crebbp-related rubinstein-taybi syndrome 11.2
3 ep300-related rubinstein-taybi syndrome 11.2
4 rubinstein-taybi syndrome 2 11.2

Symptoms & Phenotypes for Rubinstein-Taybi Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature
average adult male height 153 cm
average adult female height 147 cm

Skeletal- Spine:
scoliosis
spina bifida occulta

Head And Neck- Eyes:
long eyelashes
strabismus
cataracts
ptosis
epicanthal folds
more
Immunology:
recurrent infections
polysaccharide antibody response defect

Head And Neck- Head:
microcephaly
frontal bossing
large anterior fontanelle
late closure of fontanelle

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

Genitourinary- External Genitalia Male:
hypospadias
shawl scrotum

Skeletal- Hands:
fifth finger clinodactyly
syndactyly
polydactyly
single transverse palmar creases
broad thumbs with radial angulation
more
Head And Neck- Nose:
broad nasal bridge
beaked nose
deviated nasal septum

Abdomen- Gastroin testinal:
constipation

Neoplasia:
increased risk of leukemia
increased risk of tumor formation, especially of the head

Skeletal- Feet:
pes planus
broad great toes
plantar crease between first and second toes

Neurologic- Behavioral Psychiatric Manifestations:
short attention span
good social contacts
labile mood

Skeletal- Skull:
large foramen magnum
parietal foramina

Growth- Weight:
obesity after puberty

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

Head And Neck- Mouth:
high-arched palate
narrow palate
small opening of the mouth

Neurologic- Central Nervous System:
hypotonia
hyperreflexia
eeg abnormalities
seizures
agenesis of corpus callosum
more
Skin Nails & Hair- Hair:
hirsutism

Respiratory:
recurrent respiratory infections

Head And Neck- Face:
micrognathia
retrognathia
low anterior hairline
hypoplastic maxilla
grimacing or unusual smile with almost closing of the eyes

Cardiovascular- Vascular:
patent ductus arteriosus
capillary hemangiomas

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal:
joint hypermobility
delayed skeletal maturation

Skin Nails & Hair- Skin:
cafe-au-lait spots
capillary hemangiomas
single transverse palmar creases
keloid formation in surgical scars

Cardiovascular- Heart:
ventricular septal defects
atrial septal defects

Head And Neck- Teeth:
enamel hypoplasia
dental crowding
talon cusps
crossbite
screwdriver permanent incisors
more
Growth- Other:
postnatal growth retardation

Skeletal- Pelvis:
small, flared iliac wings

Skeletal- Limbs:
patellar dislocation

Chest- Ribs Sternum Clavicles And Scapulae:
sternal anomalies


Clinical features from OMIM:

180849

Human phenotypes related to Rubinstein-Taybi Syndrome 1:

32 (show top 50) (show all 116)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 scoliosis 32 HP:0002650
4 long eyelashes 32 HP:0000527
5 hirsutism 32 HP:0001007
6 strabismus 32 HP:0000486
7 hyperreflexia 32 HP:0001347
8 seizures 32 HP:0001250
9 ptosis 32 HP:0000508
10 unsteady gait 32 HP:0002317
11 microcephaly 32 HP:0000252
12 low-set ears 32 HP:0000369
13 micrognathia 32 HP:0000347
14 proptosis 32 HP:0000520
15 joint laxity 32 HP:0001388
16 atrial septal defect 32 HP:0001631
17 patent ductus arteriosus 32 HP:0001643
18 hypospadias 32 HP:0000047
19 polyhydramnios 32 HP:0001561
20 coloboma 32 HP:0000589
21 glaucoma 32 HP:0000501
22 retrognathia 32 HP:0000278
23 frontal bossing 32 HP:0002007
24 narrow palate 32 HP:0000189
25 respiratory distress 32 HP:0002098
26 shawl scrotum 32 HP:0000049
27 cryptorchidism 32 HP:0000028
28 low anterior hairline 32 HP:0000294
29 intellectual disability 32 HP:0001249
30 cataract 32 HP:0000518
31 ventricular septal defect 32 HP:0001629
32 hyperactivity 32 HP:0000752
33 autism 32 HP:0000717
34 agenesis of corpus callosum 32 HP:0001274
35 self-mutilation 32 HP:0000742
36 wide nasal bridge 32 HP:0000431
37 pectus excavatum 32 HP:0000767
38 constipation 32 HP:0002019
39 spina bifida occulta 32 HP:0003298
40 bifid uterus 32 HP:0000136
41 flared iliac wings 32 HP:0002869
42 arrhythmia 32 HP:0011675
43 syndactyly 32 HP:0001159
44 broad hallux 32 HP:0010055
45 wide anterior fontanel 32 HP:0000260
46 downslanted palpebral fissures 32 HP:0000494
47 low posterior hairline 32 HP:0002162
48 pes planus 32 HP:0001763
49 phonophobia 32 HP:0002183
50 high palate 32 HP:0000218

UMLS symptoms related to Rubinstein-Taybi Syndrome 1:


constipation, seizures

Drugs & Therapeutics for Rubinstein-Taybi Syndrome 1

Drugs for Rubinstein-Taybi Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id 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:


id 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:

39
Eye, Bone, Kidney, Uterus

Publications for Rubinstein-Taybi Syndrome 1

Variations for Rubinstein-Taybi Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Rubinstein-Taybi Syndrome 1:

71 (show all 17)
id 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 (show top 50) (show all 83)
id 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 GRCh38 Chromosome 16, 3728876: 3728917
10 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh38 Chromosome 16, 3728959: 3728959
11 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh38 Chromosome 16, 3729178: 3729178
12 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh38 Chromosome 16, 3729203: 3729213
13 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh38 Chromosome 16, 3729210: 3729210
14 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh38 Chromosome 16, 3729226: 3729226
15 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh38 Chromosome 16, 3731314: 3731314
16 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh38 Chromosome 16, 3731874: 3731874
17 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh38 Chromosome 16, 3736075: 3736075
18 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh38 Chromosome 16, 3736702: 3736702
19 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh38 Chromosome 16, 3736765: 3736765
20 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh38 Chromosome 16, 3736766: 3736766
21 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh38 Chromosome 16, 3736812: 3736812
22 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh38 Chromosome 16, 3738577: 3738577
23 CREBBP NM_004380.2(CREBBP): c.4281-11C> G single nucleotide variant Likely pathogenic rs587783493 GRCh37 Chromosome 16, 3788684: 3788684
24 CREBBP NM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser) single nucleotide variant Likely pathogenic rs587783492 GRCh37 Chromosome 16, 3789633: 3789633
25 CREBBP NM_004380.2(CREBBP): c.4133+1G> A single nucleotide variant Pathogenic rs587783491 GRCh38 Chromosome 16, 3740398: 3740398
26 CREBBP NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter) single nucleotide variant Pathogenic rs587783490 GRCh38 Chromosome 16, 3740454: 3740454
27 CREBBP NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter) single nucleotide variant Pathogenic rs587783489 GRCh38 Chromosome 16, 3740487: 3740487
28 CREBBP NM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro) single nucleotide variant Likely pathogenic rs587783488 GRCh38 Chromosome 16, 3740510: 3740510
29 CREBBP NM_004380.2(CREBBP): c.3983-2A> G single nucleotide variant Pathogenic rs587783486 GRCh38 Chromosome 16, 3740551: 3740551
30 CREBBP NM_004380.2(CREBBP): c.3914+3G> T single nucleotide variant Likely pathogenic rs587783485 GRCh37 Chromosome 16, 3795275: 3795275
31 CREBBP NM_004380.2(CREBBP): c.3836+1G> A single nucleotide variant Pathogenic rs200782888 GRCh37 Chromosome 16, 3799627: 3799627
32 CREBBP NM_004380.2(CREBBP): c.3779+1G> A single nucleotide variant Pathogenic rs587783483 GRCh38 Chromosome 16, 3751725: 3751725
33 CREBBP NM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter) single nucleotide variant Pathogenic rs587783482 GRCh38 Chromosome 16, 3757373: 3757373
34 CREBBP NM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys) single nucleotide variant Likely pathogenic rs587783481 GRCh38 Chromosome 16, 3757918: 3757918
35 CREBBP NM_004380.2(CREBBP): c.3369+1G> T single nucleotide variant Pathogenic rs587783480 GRCh38 Chromosome 16, 3758853: 3758853
36 CREBBP NM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter) single nucleotide variant Pathogenic rs587783479 GRCh38 Chromosome 16, 3758913: 3758913
37 CREBBP NM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter) single nucleotide variant Pathogenic rs587783475 GRCh38 Chromosome 16, 3770659: 3770659
38 CREBBP NM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs) deletion Pathogenic rs587783473 GRCh37 Chromosome 16, 3820844: 3820845
39 CREBBP NM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter) single nucleotide variant Pathogenic rs587783471 GRCh38 Chromosome 16, 3770915: 3770915
40 CREBBP NM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs) deletion Pathogenic rs587783470 GRCh38 Chromosome 16, 3777648: 3777649
41 CREBBP NM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs) deletion Pathogenic rs587783469 GRCh38 Chromosome 16, 3778098: 3778098
42 CREBBP NM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs) deletion Pathogenic rs587783467 GRCh37 Chromosome 16, 3830735: 3830735
43 CREBBP NM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs) deletion Pathogenic rs587783465 GRCh38 Chromosome 16, 3781290: 3781290
44 CREBBP NM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs587783464 GRCh38 Chromosome 16, 3792041: 3792041
45 CREBBP NM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter) single nucleotide variant Pathogenic rs587783463 GRCh38 Chromosome 16, 3792054: 3792054
46 CREBBP NM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic rs587783461 GRCh38 Chromosome 16, 3793446: 3793446
47 CREBBP NM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs587783460 GRCh38 Chromosome 16, 3793539: 3793539
48 CREBBP NM_004380.2(CREBBP): c.953C> A (p.Ser318Ter) single nucleotide variant Pathogenic rs587783516 GRCh37 Chromosome 16, 3860626: 3860626
49 CREBBP NM_004380.2(CREBBP): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783509 GRCh38 Chromosome 16, 3850497: 3850497
50 CREBBP NM_004380.2(CREBBP): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs587783478 GRCh37 Chromosome 16, 3900780: 3900780

Expression for Rubinstein-Taybi Syndrome 1

Search GEO for disease gene expression data for Rubinstein-Taybi Syndrome 1.

Pathways for Rubinstein-Taybi Syndrome 1

GO Terms for Rubinstein-Taybi Syndrome 1

Sources for Rubinstein-Taybi Syndrome 1

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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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