RSTS2
MCID: RBN008
MIFTS: 29

Rubinstein-Taybi Syndrome 2 (RSTS2)

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

Aliases & Classifications for Rubinstein-Taybi Syndrome 2

MalaCards integrated aliases for Rubinstein-Taybi Syndrome 2:

Name: Rubinstein-Taybi Syndrome 2 57 75 29 13 6 73
Rsts2 57 75
Rubinstein-Taybi Syndrome Due to Ep300 Haploinsufficiency 59
Rubinstein-Taybi Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
rubinstein-taybi syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Rubinstein-Taybi Syndrome 2

OMIM : 57 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, also known as rsts2, is related to chromosome 16p13.3 deletion syndrome, proximal and immunodysregulation, polyendocrinopathy, and enteropathy, x-linked. An important gene associated with Rubinstein-Taybi Syndrome 2 is EP300 (E1A Binding Protein P300). The drugs Hypoglycemic Agents and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and t cells, and related phenotypes are high palate and narrow palate

UniProtKB/Swiss-Prot : 75 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

Diseases related to Rubinstein-Taybi Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 16p13.3 deletion syndrome, proximal 10.5
2 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.2
3 scoliosis 10.2
4 combined t cell and b cell immunodeficiency 10.2

Symptoms & Phenotypes for Rubinstein-Taybi Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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 Gastrointestinal:
feeding/swallowing issues beyond the neonatal period (in some patients)


Clinical features from OMIM:

613684

Human phenotypes related to Rubinstein-Taybi Syndrome 2:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 narrow palate 32 HP:0000189
3 dental malocclusion 32 HP:0000689
4 global developmental delay 32 HP:0001263
5 carious teeth 32 HP:0000670
6 delayed speech and language development 32 HP:0000750
7 microcephaly 32 HP:0000252
8 broad thumb 32 HP:0011304
9 intellectual disability, mild 32 HP:0001256
10 micrognathia 32 HP:0000347
11 retrognathia 32 HP:0000278
12 convex nasal ridge 32 HP:0000444
13 preeclampsia 32 occasional (7.5%) HP:0100602
14 long eyelashes 32 HP:0000527
15 posterior helix pit 32 HP:0008523
16 autistic behavior 32 occasional (7.5%) HP:0000729
17 prominent nose 32 HP:0000448
18 delayed gross motor development 32 HP:0002194
19 syndactyly 32 occasional (7.5%) HP:0001159
20 broad hallux 32 HP:0010055
21 overbite 32 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 Not Applicable
2 Insulin, Globin Zinc Not Applicable
3 insulin Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Retest-reliability and At-home-assessment Feasibility of the 5R-STS Completed NCT03321357
2 Effect of Resistant Starch Type 4 on Glycemia and Insulin Sensitivity in Young Adults Completed NCT00687960 Not Applicable

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 29 EP300

Anatomical Context for Rubinstein-Taybi Syndrome 2

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

41
Bone, Eye, T Cells, B Cells

Publications for Rubinstein-Taybi Syndrome 2

Articles related to Rubinstein-Taybi Syndrome 2:

# Title Authors Year
1
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*). ( 29944992 )
2018
2
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency. ( 30076641 )
2018
3
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. ( 27465822 )
2016
4
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report. ( 25596810 )
2015

Variations for Rubinstein-Taybi Syndrome 2

ClinVar genetic disease variations for Rubinstein-Taybi Syndrome 2:

6 (show top 50) (show all 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 EP300 NM_001429.3(EP300): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs137853039 GRCh37 Chromosome 22, 41537115: 41537115
2 EP300 NM_001429.3(EP300): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs137853039 GRCh38 Chromosome 22, 41141111: 41141111
3 EP300 EP300, 8-BP DEL, NT2877 deletion Pathogenic
4 EP300 EP300, EX1DEL deletion Pathogenic
5 EP300 EP300, 1-BP DEL, 7100C deletion Pathogenic
6 EP300 EP300, EX3-8DEL deletion Pathogenic
7 EP300 EP300, 1-BP DEL, 638G deletion Pathogenic
8 EP300 NM_001429.3(EP300): c.2499G> A (p.Ser833=) single nucleotide variant Benign/Likely benign rs35560602 GRCh37 Chromosome 22, 41545884: 41545884
9 EP300 NM_001429.3(EP300): c.2499G> A (p.Ser833=) single nucleotide variant Benign/Likely benign rs35560602 GRCh38 Chromosome 22, 41149880: 41149880
10 EP300 NM_001429.3(EP300): c.3354C> T (p.Val1118=) single nucleotide variant Benign/Likely benign rs11704815 GRCh37 Chromosome 22, 41553265: 41553265
11 EP300 NM_001429.3(EP300): c.3354C> T (p.Val1118=) single nucleotide variant Benign/Likely benign rs11704815 GRCh38 Chromosome 22, 41157261: 41157261
12 EP300 NM_001429.3(EP300): c.6668A> C (p.Gln2223Pro) single nucleotide variant Benign/Likely benign rs1046088 GRCh37 Chromosome 22, 41574383: 41574383
13 EP300 NM_001429.3(EP300): c.6668A> C (p.Gln2223Pro) single nucleotide variant Benign/Likely benign rs1046088 GRCh38 Chromosome 22, 41178379: 41178379
14 EP300 NM_001429.3(EP300): c.730-18_730-9delTTTGTTTCTT deletion Benign rs61120041 GRCh37 Chromosome 22, 41521850: 41521859
15 EP300 NM_001429.3(EP300): c.730-18_730-9delTTTGTTTCTT deletion Benign rs61120041 GRCh38 Chromosome 22, 41125846: 41125855
16 EP300 NM_001429.3(EP300): c.2091T> G (p.Ser697Arg) single nucleotide variant Benign/Likely benign rs61756764 GRCh37 Chromosome 22, 41542780: 41542780
17 EP300 NM_001429.3(EP300): c.2091T> G (p.Ser697Arg) single nucleotide variant Benign/Likely benign rs61756764 GRCh38 Chromosome 22, 41146776: 41146776
18 EP300 NM_001429.3(EP300): c.631G> A (p.Gly211Ser) single nucleotide variant Benign/Likely benign rs142030651 GRCh37 Chromosome 22, 41513727: 41513727
19 EP300 NM_001429.3(EP300): c.631G> A (p.Gly211Ser) single nucleotide variant Benign/Likely benign rs142030651 GRCh38 Chromosome 22, 41117723: 41117723
20 EP300 NM_001429.3(EP300): c.865A> G (p.Met289Val) single nucleotide variant Benign/Likely benign rs2230111 GRCh37 Chromosome 22, 41522003: 41522003
21 EP300 NM_001429.3(EP300): c.865A> G (p.Met289Val) single nucleotide variant Benign/Likely benign rs2230111 GRCh38 Chromosome 22, 41125999: 41125999
22 EP300 NM_001429.3(EP300): c.104_107delCTCT (p.Ser35Tyrfs) deletion Pathogenic rs886037664 GRCh37 Chromosome 22, 41513200: 41513203
23 EP300 NM_001429.3(EP300): c.104_107delCTCT (p.Ser35Tyrfs) deletion Pathogenic rs886037664 GRCh38 Chromosome 22, 41117196: 41117199
24 EP300 NM_001429.3(EP300): c.586A> G (p.Ile196Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148693910 GRCh37 Chromosome 22, 41513682: 41513682
25 EP300 NM_001429.3(EP300): c.586A> G (p.Ile196Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148693910 GRCh38 Chromosome 22, 41117678: 41117678
26 EP300 NM_001429.3(EP300): c.1529-8T> C single nucleotide variant Uncertain significance rs587783621 GRCh37 Chromosome 22, 41531809: 41531809
27 EP300 NM_001429.3(EP300): c.1529-8T> C single nucleotide variant Uncertain significance rs587783621 GRCh38 Chromosome 22, 41135805: 41135805
28 EP300 NM_001429.3(EP300): c.2019T> C (p.Pro673=) single nucleotide variant Uncertain significance rs2230110 GRCh37 Chromosome 22, 41537192: 41537192
29 EP300 NM_001429.3(EP300): c.2019T> C (p.Pro673=) single nucleotide variant Uncertain significance rs2230110 GRCh38 Chromosome 22, 41141188: 41141188
30 EP300 NM_001429.3(EP300): c.2998-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs115849119 GRCh37 Chromosome 22, 41548198: 41548198
31 EP300 NM_001429.3(EP300): c.2998-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs115849119 GRCh38 Chromosome 22, 41152194: 41152194
32 EP300 NM_001429.3(EP300): c.3348G> A (p.Gln1116=) single nucleotide variant Benign rs20554 GRCh37 Chromosome 22, 41553259: 41553259
33 EP300 NM_001429.3(EP300): c.3348G> A (p.Gln1116=) single nucleotide variant Benign rs20554 GRCh38 Chromosome 22, 41157255: 41157255
34 EP300 NM_001429.3(EP300): c.3665C> A (p.Pro1222His) single nucleotide variant Uncertain significance rs7285319 GRCh37 Chromosome 22, 41556720: 41556720
35 EP300 NM_001429.3(EP300): c.3665C> A (p.Pro1222His) single nucleotide variant Uncertain significance rs7285319 GRCh38 Chromosome 22, 41160716: 41160716
36 EP300 NM_001429.3(EP300): c.5061+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs78432056 GRCh37 Chromosome 22, 41572542: 41572542
37 EP300 NM_001429.3(EP300): c.5061+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs78432056 GRCh38 Chromosome 22, 41176538: 41176538
38 EP300 NM_001429.3(EP300): c.6372C> T (p.Val2124=) single nucleotide variant Benign/Likely benign rs34985152 GRCh37 Chromosome 22, 41574087: 41574087
39 EP300 NM_001429.3(EP300): c.6372C> T (p.Val2124=) single nucleotide variant Benign/Likely benign rs34985152 GRCh38 Chromosome 22, 41178083: 41178083
40 EP300 NM_001429.3(EP300): c.4933C> T (p.Arg1645Ter) single nucleotide variant Pathogenic rs139310551 GRCh37 Chromosome 22, 41572404: 41572404
41 EP300 NM_001429.3(EP300): c.4933C> T (p.Arg1645Ter) single nucleotide variant Pathogenic rs139310551 GRCh38 Chromosome 22, 41176400: 41176400
42 EP300 NM_001429.3(EP300): c.3573T> A (p.Tyr1191Ter) single nucleotide variant Pathogenic rs565779970 GRCh38 Chromosome 22, 41158483: 41158483
43 EP300 NM_001429.3(EP300): c.3573T> A (p.Tyr1191Ter) single nucleotide variant Pathogenic rs565779970 GRCh37 Chromosome 22, 41554487: 41554487
44 EP300 NM_001429.3(EP300): c.1168+7G> C single nucleotide variant Benign/Likely benign rs181755354 GRCh37 Chromosome 22, 41523759: 41523759
45 EP300 NM_001429.3(EP300): c.1168+7G> C single nucleotide variant Benign/Likely benign rs181755354 GRCh38 Chromosome 22, 41127755: 41127755
46 EP300 NM_001429.3(EP300): c.4836dupT (p.Val1613Cysfs) duplication Pathogenic rs797045559 GRCh37 Chromosome 22, 41572307: 41572307
47 EP300 NM_001429.3(EP300): c.4836dupT (p.Val1613Cysfs) duplication Pathogenic rs797045559 GRCh38 Chromosome 22, 41176303: 41176303
48 EP300 NM_001429.3(EP300): c.6915_6918delTCAA (p.Asn2305Lysfs) deletion Pathogenic rs797045560 GRCh37 Chromosome 22, 41574630: 41574633
49 EP300 NM_001429.3(EP300): c.6915_6918delTCAA (p.Asn2305Lysfs) deletion Pathogenic rs797045560 GRCh38 Chromosome 22, 41178626: 41178629
50 EP300 NM_001429.3(EP300): c.7222_7223delCA (p.Gln2408Glufs) deletion Pathogenic rs1057519375 GRCh38 Chromosome 22, 41178933: 41178934

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

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