MCID: RBN008
MIFTS: 25

Rubinstein-Taybi Syndrome 2

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

Aliases & Classifications for Rubinstein-Taybi Syndrome 2

MalaCards integrated aliases for Rubinstein-Taybi Syndrome 2:

Name: Rubinstein-Taybi Syndrome 2 53 71 28 13 69
Rsts2 53 71
Rubinstein-Taybi Syndrome Due to Ep300 Haploinsufficiency 55

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth
may have less severe phenotype than rsts patients with crebbp mutations


HPO:

31
rubinstein-taybi syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Rubinstein-Taybi Syndrome 2

OMIM : 53 Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic 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 (Rubinstein and Taybi, 1963; review by Hennekam, 2006). About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (600140). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010). For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (180849). (613684)

MalaCards based summary : Rubinstein-Taybi Syndrome 2, is also known as rsts2, and has symptoms including high palate, narrow palate and dental malocclusion. An important gene associated with Rubinstein-Taybi Syndrome 2 is EP300 (E1A Binding Protein P300). The drugs Hypoglycemic Agents and insulin have been mentioned in the context of this disorder. Affiliated tissues include bone and eye.

UniProtKB/Swiss-Prot : 71 Rubinstein-Taybi syndrome 2: A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients.

Related Diseases for Rubinstein-Taybi Syndrome 2

Diseases in the Rubinstein Taybi Like Syndrome family:

Rubinstein-Taybi Syndrome 1 Rubinstein-Taybi Syndrome 2

Symptoms & Phenotypes for Rubinstein-Taybi Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Mouth:
narrow palate
high-arched palate

Head And Neck Head:
microcephaly

Head And Neck Eyes:
long eyelashes
heavy, arched eyebrows
mildly downslanting palpebral fissures
normal palpebral fissures

Neurologic Central Nervous System:
delayed gross motor development
delayed psychomotor development
mental retardation, mild to moderate
speech delay
autism spectrum disorder (in some patients)
more
Skeletal Feet:
broad great toes

Head And Neck Ears:
posterior helical pits

Prenatal Manifestations Maternal:
preeclampsia (in some patients)

Head And Neck Teeth:
dental malocclusion
overbite
dental caries

Head And Neck Face:
micrognathia
retrognathia

Head And Neck Nose:
prominent nose
beaked nose
long columella extending below the alae nasi

Skeletal Hands:
broad thumbs
syndactyly (in some patients)
square distal fingertips

Neurologic Behavioral Psychiatric Manifestations:
behavioral difficulties

Abdomen Gastroin testinal:
feeding/swallowing issues beyond the neonatal period (in some patients)


Clinical features from OMIM:

613684

Human phenotypes related to Rubinstein-Taybi Syndrome 2:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 narrow palate 31 HP:0000189
3 dental malocclusion 31 HP:0000689
4 global developmental delay 31 HP:0001263
5 carious teeth 31 HP:0000670
6 delayed speech and language development 31 HP:0000750
7 microcephaly 31 HP:0000252
8 broad thumb 31 HP:0011304
9 intellectual disability, mild 31 HP:0001256
10 micrognathia 31 HP:0000347
11 retrognathia 31 HP:0000278
12 convex nasal ridge 31 HP:0000444
13 preeclampsia 31 occasional (7.5%) HP:0100602
14 long eyelashes 31 HP:0000527
15 posterior helix pit 31 HP:0008523
16 autistic behavior 31 occasional (7.5%) HP:0000729
17 prominent nose 31 HP:0000448
18 delayed gross motor development 31 HP:0002194
19 syndactyly 31 occasional (7.5%) HP:0001159
20 broad hallux 31 HP:0010055
21 overbite 31 HP:0011094

Drugs & Therapeutics for Rubinstein-Taybi Syndrome 2

Drugs for Rubinstein-Taybi Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hypoglycemic Agents
2 insulin
3 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Resistant Starch Type 4 on Glycemia and Insulin Sensitivity in Young Adults Completed NCT00687960
2 Retest-reliability and At-home-assessment Feasibility of the 5R-STS Recruiting NCT03321357

Search NIH Clinical Center for Rubinstein-Taybi Syndrome 2

Genetic Tests for Rubinstein-Taybi Syndrome 2

Genetic tests related to Rubinstein-Taybi Syndrome 2:

# Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome 2 28 EP300

Anatomical Context for Rubinstein-Taybi Syndrome 2

MalaCards organs/tissues related to Rubinstein-Taybi Syndrome 2:

38
Bone, Eye

Publications for Rubinstein-Taybi Syndrome 2

Variations for Rubinstein-Taybi Syndrome 2

ClinVar genetic disease variations for Rubinstein-Taybi Syndrome 2:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 EP300 EP300, 1-BP DEL, 638G deletion Pathogenic
2 EP300 NM_001429.3(EP300): c.104_107delCTCT (p.Ser35Tyrfs) deletion Pathogenic rs886037664 GRCh37 Chromosome 22, 41513200: 41513203
3 EP300 NM_001429.3(EP300): c.4933C> T (p.Arg1645Ter) single nucleotide variant Pathogenic rs139310551 GRCh37 Chromosome 22, 41572404: 41572404
4 EP300 EP300, 8-BP DEL, NT2877 deletion Pathogenic
5 EP300 EP300, EX1DEL deletion Pathogenic
6 EP300 EP300, 1-BP DEL, 7100C deletion Pathogenic
7 EP300 NM_001429.3(EP300): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs137853039 GRCh37 Chromosome 22, 41537115: 41537115
8 EP300 EP300, EX3-8DEL deletion Pathogenic
9 EP300 NM_001429.3(EP300): c.3573T> A (p.Tyr1191Ter) single nucleotide variant Pathogenic rs565779970 GRCh38 Chromosome 22, 41158483: 41158483
10 EP300 NM_001429.3(EP300): c.4836dupT (p.Val1613Cysfs) duplication Pathogenic rs797045559 GRCh38 Chromosome 22, 41176303: 41176303
11 EP300 NM_001429.3(EP300): c.6915_6918delTCAA (p.Asn2305Lysfs) deletion Pathogenic rs797045560 GRCh38 Chromosome 22, 41178626: 41178629
12 EP300 NM_001429.3(EP300): c.7222_7223delCA (p.Gln2408Glufs) deletion Pathogenic rs1057519375 GRCh38 Chromosome 22, 41178933: 41178934
13 EP300 NM_001429.3(EP300): c.6574_6585delCAGCAGCAACAG (p.Gln2192_Gln2195del) deletion Likely pathogenic rs875989807 GRCh37 Chromosome 22, 41574289: 41574300
14 EP300 NM_001429.3(EP300): c.769_786del18 (p.Tyr257_Gly262del) deletion Pathogenic rs876661318 GRCh38 Chromosome 22, 41125903: 41125920
15 EP300 NM_001429.3(EP300): c.2164dupC (p.Gln722Profs) duplication Pathogenic rs879253873 GRCh37 Chromosome 22, 41543873: 41543873
16 EP300 NM_001429.3(EP300): c.3163C> T (p.Arg1055Ter) single nucleotide variant Pathogenic rs886041830 GRCh37 Chromosome 22, 41551019: 41551019
17 EP300 NM_001429.3(EP300): c.3728+5G> C single nucleotide variant Pathogenic rs1114167305 GRCh37 Chromosome 22, 41558788: 41558788
18 EP300 NM_001429.3(EP300): c.4511T> G (p.Phe1504Cys) single nucleotide variant Pathogenic rs1114167306 GRCh38 Chromosome 22, 41172557: 41172557
19 EP300 NM_001429.3(EP300): c.4954_4957dupATGT (p.Cys1653Tyrfs) duplication Pathogenic GRCh37 Chromosome 22, 41572425: 41572428
20 EP300 NM_001429.3(EP300): c.70_71delTC (p.Ser24Glyfs) deletion Pathogenic GRCh37 Chromosome 22, 41489078: 41489079
21 EP300 NM_001429.3(EP300): c.4065C> A (p.Tyr1355Ter) single nucleotide variant Pathogenic rs886043598 GRCh37 Chromosome 22, 41564764: 41564764
22 EP300 NM_001429.3(EP300): c.4783T> G (p.Phe1595Val) single nucleotide variant Pathogenic rs1057517732 GRCh37 Chromosome 22, 41572254: 41572254
23 EP300 NM_001429.3(EP300): c.4763T> C (p.Met1588Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057521737 GRCh37 Chromosome 22, 41569772: 41569772
24 EP300 NM_001429.3(EP300): c.3857A> G single nucleotide variant Pathogenic GRCh37 Chromosome 22, 41562653: 41562653
25 EP300 NG_009817.1: g.(53614_59129)_(76522_78989)dup duplication Pathogenic GRCh38 Chromosome 22, 41141223: 41166598
26 EP300 NM_001429.3(EP300): c.3734_3736delTTG (p.Val1245del) deletion Likely pathogenic GRCh37 Chromosome 22, 41560062: 41560064
27 EP300 NM_001429.3(EP300): c.4371_4376delACCCAA (p.Ile1457_Lys1459delinsMet) deletion Likely pathogenic GRCh37 Chromosome 22, 41566494: 41566499
28 EP300 NM_001429.3(EP300): c.4505C> T (p.Pro1502Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 41172551: 41172551
29 EP300 NM_001429.3(EP300): c.3070_3074delAAAGA (p.Lys1024Glyfs) deletion Pathogenic GRCh38 Chromosome 22, 41152278: 41152282
30 EP300 NM_001429.3(EP300): c.3684_3687delAGAA (p.Lys1228Asnfs) deletion Pathogenic GRCh37 Chromosome 22, 41558739: 41558742

Expression for Rubinstein-Taybi Syndrome 2

Search GEO for disease gene expression data for Rubinstein-Taybi Syndrome 2.

Pathways for Rubinstein-Taybi Syndrome 2

GO Terms for Rubinstein-Taybi Syndrome 2

Sources for Rubinstein-Taybi Syndrome 2

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
Content
Loading form....