MCID: RBN008
MIFTS: 28

Rubinstein-Taybi Syndrome 2

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 2

MalaCards integrated aliases for Rubinstein-Taybi Syndrome 2:

Name: Rubinstein-Taybi Syndrome 2 54 71 29 13 69
Rubinstein-Taybi Syndrome Due to Ep300 Haploinsufficiency 56
Rsts2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
de novo mutation
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 : 54
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 rubinstein-taybi syndrome due to ep300 haploinsufficiency, and has symptoms including long eyelashes, microcephaly and micrognathia. An important gene associated with Rubinstein-Taybi Syndrome 2 is EP300 (E1A Binding Protein P300). The drugs Valproic Acid and Anticonvulsants 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

Symptoms & Phenotypes for Rubinstein-Taybi Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

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

Neurologic- Central Nervous System:
delayed psychomotor development
speech delay
mental retardation, mild to moderate
delayed gross motor development
autism spectrum disorder (in some patients)
more
Head And Neck- Head:
microcephaly

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

Skeletal- Feet:
broad great toes

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

Prenatal Manifestations- Maternal:
preeclampsia (in some patients)

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

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

Head And Neck- Face:
micrognathia
retrognathia

Head And Neck- Teeth:
dental caries
dental malocclusion
overbite

Head And Neck- Ears:
posterior helical pits

Neurologic- Behavioral Psychiatric Manifestations:
behavioral difficulties


Clinical features from OMIM:

613684

Human phenotypes related to Rubinstein-Taybi Syndrome 2:

32 (showing 16, show less)
id Description HPO Frequency HPO Source Accession
1 long eyelashes 32 HP:0000527
2 microcephaly 32 HP:0000252
3 micrognathia 32 HP:0000347
4 retrognathia 32 HP:0000278
5 global developmental delay 32 HP:0001263
6 narrow palate 32 HP:0000189
7 intellectual disability, mild 32 HP:0001256
8 prominent nose 32 HP:0000448
9 broad hallux 32 HP:0010055
10 high palate 32 HP:0000218
11 dental malocclusion 32 HP:0000689
12 broad thumb 32 HP:0011304
13 overbite 32 HP:0011094
14 carious teeth 32 HP:0000670
15 delayed speech and language development 32 HP:0000750
16 convex nasal ridge 32 HP:0000444

Drugs & Therapeutics for Rubinstein-Taybi Syndrome 2

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

(showing 12, show less)
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
10 Hypoglycemic Agents
11 insulin
12 Insulin, Globin Zinc

Interventional clinical trials:

(showing 3, show less)

id Name Status NCT ID Phase Drugs
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
2 Effect of Resistant Starch Type 4 on Glycemia and Insulin Sensitivity in Young Adults Completed NCT00687960
3 Resistant Starch on Glycemic Response in Older Adults Completed NCT00676767

Search NIH Clinical Center for Rubinstein-Taybi Syndrome 2

Genetic Tests for Rubinstein-Taybi Syndrome 2

Genetic tests related to Rubinstein-Taybi Syndrome 2:

id Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome 2 29

Anatomical Context for Rubinstein-Taybi Syndrome 2

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

39
Bone, Eye

Publications for Rubinstein-Taybi Syndrome 2

Variations for Rubinstein-Taybi Syndrome 2

ClinVar genetic disease variations for Rubinstein-Taybi Syndrome 2:

6 (showing 27, show less)
id 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 EP300, 8-BP DEL, NT2877 deletion Pathogenic
3 EP300 EP300, EX1DEL deletion Pathogenic
4 EP300 EP300, 1-BP DEL, 7100C deletion Pathogenic
5 EP300 EP300, EX3-8DEL deletion Pathogenic
6 EP300 EP300, 1-BP DEL, 638G deletion Pathogenic
7 EP300 NM_001429.3(EP300): c.104_107delCTCT (p.Ser35Tyrfs) deletion Pathogenic rs886037664 GRCh37 Chromosome 22, 41513200: 41513203
8 EP300 NM_001429.3(EP300): c.4933C> T (p.Arg1645Ter) single nucleotide variant Pathogenic rs139310551 GRCh37 Chromosome 22, 41572404: 41572404
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.4065C> A (p.Tyr1355Ter) single nucleotide variant Pathogenic rs886043598 GRCh37 Chromosome 22, 41564764: 41564764
21 EP300 NM_001429.3(EP300): c.4783T> G (p.Phe1595Val) single nucleotide variant Pathogenic rs1057517732 GRCh38 Chromosome 22, 41176250: 41176250
22 EP300 NM_001429.3(EP300): c.4763T> C (p.Met1588Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057521737 GRCh37 Chromosome 22, 41569772: 41569772
23 EP300 NM_001429.3(EP300): c.3857-A> G undetermined variant Pathogenic
24 EP300 NG_009817.1: g.(53614_59129)_(76522_78989)dup duplication Pathogenic GRCh38 Chromosome 22, 41141223: 41166598
25 EP300 NM_001429.3(EP300): c.3734_3736delTTG (p.Val1245del) deletion Likely pathogenic GRCh37 Chromosome 22, 41560062: 41560064
26 EP300 NM_001429.3(EP300): c.4371_4376delACCCAA (p.Ile1457_Lys1459delinsMet) deletion Likely pathogenic GRCh37 Chromosome 22, 41566494: 41566499
27 EP300 NM_001429.3(EP300): c.4505C> T (p.Pro1502Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 41172551: 41172551

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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10 dbSNP
11 DGIdb
16 ExPASy
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