RSTS2
MCID: RBN008
MIFTS: 38

Rubinstein-Taybi Syndrome 2 (RSTS2)

Categories: Bone 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 72 29 13 6 70
Rsts2 57 72
Rubinstein-Taybi Syndrome Due to Ep300 Haploinsufficiency 58
Rubinstein-Taybi Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 613684
OMIM Phenotypic Series 57 PS180849
MeSH 44 D012415
ICD10 via Orphanet 33 Q87.2
Orphanet 58 ORPHA353284
MedGen 41 C3150941
UMLS 70 C3150941

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) (Updated 05-Apr-2021)

MalaCards based summary : Rubinstein-Taybi Syndrome 2, also known as rsts2, is related to menke-hennekam syndrome 2 and colorectal cancer. An important gene associated with Rubinstein-Taybi Syndrome 2 is EP300 (E1A Binding Protein P300). Affiliated tissues include eye, brain and testis, and related phenotypes are high palate and hypertelorism

UniProtKB/Swiss-Prot : 72 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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 menke-hennekam syndrome 2 11.3
2 colorectal cancer 10.3
3 otopalatodigital syndrome, type i 10.3
4 chromosome 16p13.3 deletion syndrome, proximal 10.3
5 floating-harbor syndrome 10.2
6 chromosome 2q35 duplication syndrome 10.2
7 immune deficiency disease 10.2
8 combined immunodeficiency 10.2
9 pre-eclampsia 10.2
10 microcephaly 10.2
11 eclampsia 10.2
12 lung disease 10.2
13 rubinstein-taybi syndrome 1 10.1
14 neural tube defects 10.1
15 alacrima, achalasia, and mental retardation syndrome 10.1
16 scoliosis 10.1

Graphical network of the top 20 diseases related to Rubinstein-Taybi Syndrome 2:



Diseases related to Rubinstein-Taybi Syndrome 2

Symptoms & Phenotypes for Rubinstein-Taybi Syndrome 2

Human phenotypes related to Rubinstein-Taybi Syndrome 2:

58 31 (show top 50) (show all 139)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
4 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
5 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
8 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
9 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
10 postnatal microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0005484
11 facial grimacing 58 31 hallmark (90%) Very frequent (99-80%) HP:0000273
12 broad hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010055
13 prominent nasal septum 58 31 hallmark (90%) Very frequent (99-80%) HP:0005322
14 widened distal phalanges 58 31 hallmark (90%) Very frequent (99-80%) HP:0006200
15 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
16 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
17 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
18 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
19 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
20 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
21 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
22 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
23 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
24 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
25 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
26 obstructive sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002870
27 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
28 impulsivity 58 31 frequent (33%) Frequent (79-30%) HP:0100710
29 broad distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009836
30 impaired social interactions 58 31 frequent (33%) Frequent (79-30%) HP:0000735
31 agoraphobia 58 31 frequent (33%) Frequent (79-30%) HP:0000756
32 mood changes 58 31 frequent (33%) Frequent (79-30%) HP:0001575
33 abnormal proximal phalanx morphology of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009834
34 low hanging columella 58 31 frequent (33%) Frequent (79-30%) HP:0009765
35 panic attack 58 31 frequent (33%) Frequent (79-30%) HP:0025269
36 laryngeal cartilage malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008752
37 talon cusp 58 31 frequent (33%) Frequent (79-30%) HP:0011087
38 social and occupational deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0007086
39 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
40 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
41 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
42 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
43 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
44 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
45 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
46 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
47 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
48 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
49 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
50 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
narrow palate
high-arched palate

Head And Neck Head:
microcephaly

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

Neurologic Central Nervous System:
delayed gross motor development
hypotonia
speech delay
delayed psychomotor development
mental retardation, mild to moderate
more
Skeletal Hands:
broad thumbs
syndactyly (in some patients)
square distal fingertips

Skin Nails Hair Hair:
hirsutism (in some patients)

Prenatal Manifestations Maternal:
preeclampsia (in some patients)

Head And Neck Teeth:
dental malocclusion
overbite
dental caries

Head And Neck Face:
retrognathia
micrognathia

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

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
behavioral difficulties

Skeletal Feet:
broad great toes

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

Head And Neck Ears:
posterior helical pits

Clinical features from OMIM®:

613684 (Updated 05-Apr-2021)

Drugs & Therapeutics for Rubinstein-Taybi Syndrome 2

Search Clinical Trials , 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:

40
Eye, Brain, Testis, Heart, Kidney

Publications for Rubinstein-Taybi Syndrome 2

Articles related to Rubinstein-Taybi Syndrome 2:

(show all 24)
# Title Authors PMID Year
1
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 6 57
27465822 2016
2
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 6 57
24352918 2014
3
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. 57 6
20014264 2010
4
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. 6 57
19353645 2009
5
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. 57 6
17299436 2007
6
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 6 57
15706485 2005
7
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency. 6
30076641 2018
8
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 6
29706646 2018
9
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 6
27648933 2016
10
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 6
26486927 2016
11
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 6
25712426 2015
12
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
13
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. 6
24476420 2015
14
The Deciphering Developmental Disorders (DDD) study. 6
21679367 2011
15
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. 57
20717166 2011
16
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. 57
17220215 2007
17
Rubinstein-Taybi syndrome. 57
16868563 2006
18
Rubinstein-Taybi Syndrome 6
20301699 2002
19
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 57
13983033 1963
20
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020
21
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations. 61
31491690 2019
22
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. 61
30789376 2019
23
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*). 61
29944992 2018
24
[Rubinstein-Taybi syndrome. (2 cases studied also from a chromosomal point of view)]. 61
4993256 1969

Variations for Rubinstein-Taybi Syndrome 2

ClinVar genetic disease variations for Rubinstein-Taybi Syndrome 2:

6 (show top 50) (show all 181)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EP300 NC_000022.11:g.(?_41092585)_(41093099_41117186)del Deletion Pathogenic 6884 GRCh37:
GRCh38: 22:41092585-41117186
2 EP300 NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup Duplication Pathogenic 397516 GRCh37: 22:41537227-41562602
GRCh38: 22:41141223-41166598
3 EP300 NM_001429.4(EP300):c.1942C>T (p.Arg648Ter) SNV Pathogenic 6882 rs137853039 GRCh37: 22:41537115-41537115
GRCh38: 22:41141111-41141111
4 EP300 NM_001429.4(EP300):c.2877_2884del (p.Thr960fs) Deletion Pathogenic 6883 rs1569108381 GRCh37: 22:41547894-41547901
GRCh38: 22:41151890-41151897
5 EP300 NM_001429.4(EP300):c.7100del (p.Pro2367fs) Deletion Pathogenic 6885 rs1569122847 GRCh37: 22:41574813-41574813
GRCh38: 22:41178809-41178809
6 EP300 NM_001429.4:c.730_1760del Deletion Pathogenic 6886 GRCh37:
GRCh38:
7 EP300 NM_001429.4(EP300):c.638del (p.Gly213fs) Deletion Pathogenic 30276 rs1569090642 GRCh37: 22:41513732-41513732
GRCh38: 22:41117728-41117728
8 EP300 NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) SNV Pathogenic 208498 rs565779970 GRCh37: 22:41554487-41554487
GRCh38: 22:41158483-41158483
9 EP300 NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) Deletion Pathogenic 210941 rs797045560 GRCh37: 22:41574627-41574630
GRCh38: 22:41178623-41178626
10 EP300 NM_001429.4(EP300):c.4836dup (p.Val1613fs) Duplication Pathogenic 210940 rs797045559 GRCh37: 22:41572305-41572306
GRCh38: 22:41176301-41176302
11 EP300 NM_001429.4(EP300):c.769_786del (p.Tyr257_Gly262del) Deletion Pathogenic 235095 rs876661318 GRCh37: 22:41521906-41521923
GRCh38: 22:41125902-41125919
12 EP300 NM_001429.4(EP300):c.2164dup (p.Gln722fs) Duplication Pathogenic 246604 rs879253873 GRCh37: 22:41543870-41543871
GRCh38: 22:41147866-41147867
13 EP300 NM_001429.4(EP300):c.7220_7221CA[1] (p.Gln2408fs) Microsatellite Pathogenic 224785 rs1057519375 GRCh37: 22:41574935-41574936
GRCh38: 22:41178931-41178932
14 EP300 NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) SNV Pathogenic 253314 rs1114167306 GRCh37: 22:41568561-41568561
GRCh38: 22:41172557-41172557
15 EP300 NM_001429.4(EP300):c.3728+5G>C SNV Pathogenic 253311 rs1114167305 GRCh37: 22:41558788-41558788
GRCh38: 22:41162784-41162784
16 EP300 NM_001429.4(EP300):c.68_69TC[1] (p.Ser24fs) Microsatellite Pathogenic 264649 rs1555902247 GRCh37: 22:41489075-41489076
GRCh38: 22:41093071-41093072
17 EP300 NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) SNV Pathogenic 538873 rs1555909666 GRCh37: 22:41548002-41548002
GRCh38: 22:41151998-41151998
18 EP300 NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) SNV Pathogenic 574856 rs1569118537 GRCh37: 22:41568635-41568635
GRCh38: 22:41172631-41172631
19 EP300 NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter) SNV Pathogenic 666310 rs1601623271 GRCh37: 22:41551022-41551022
GRCh38: 22:41155018-41155018
20 EP300 NC_000022.11:g.(?_41154975)_(41164150_?)del Deletion Pathogenic 655763 GRCh37: 22:41550979-41560154
GRCh38: 22:41154975-41164150
21 EP300 NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) Deletion Pathogenic 487227 rs1555909697 GRCh37: 22:41548281-41548285
GRCh38: 22:41152277-41152281
22 EP300 NM_001429.4(EP300):c.3485dup (p.Tyr1162Ter) Duplication Pathogenic 816887 rs1601624790 GRCh37: 22:41553395-41553396
GRCh38: 22:41157391-41157392
23 EP300 NM_001429.4(EP300):c.494_497del (p.Met165fs) Deletion Pathogenic 827620 rs1601598354 GRCh37: 22:41513587-41513590
GRCh38: 22:41117583-41117586
24 EP300 NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer) Indel Pathogenic 827621 rs1601610306 GRCh37: 22:41531894-41531898
GRCh38: 22:41135890-41135894
25 EP300 NM_001429.4(EP300):c.1957C>T (p.Gln653Ter) SNV Pathogenic 827622 rs1601613391 GRCh37: 22:41537130-41537130
GRCh38: 22:41141126-41141126
26 EP300 NM_001429.4(EP300):c.2244_2250TATGGGC[1] (p.Tyr751fs) Microsatellite Pathogenic 827623 rs1601618876 GRCh37: 22:41545043-41545049
GRCh38: 22:41149039-41149045
27 EP300 NM_001429.4(EP300):c.3367del (p.Met1124fs) Deletion Pathogenic 827624 rs1601624722 GRCh37: 22:41553278-41553278
GRCh38: 22:41157274-41157274
28 EP300 NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs) Deletion Pathogenic 827625 rs1601624754 GRCh37: 22:41553349-41553350
GRCh38: 22:41157345-41157346
29 EP300 NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter) SNV Pathogenic 827627 rs1601634247 GRCh37: 22:41566513-41566513
GRCh38: 22:41170509-41170509
30 EP300 NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs) Deletion Pathogenic 827628 rs1601640102 GRCh37: 22:41573293-41573299
GRCh38: 22:41177289-41177295
31 EP300 NM_001429.4(EP300):c.5747dup (p.Pro1917fs) Duplication Pathogenic 827629 rs1601640370 GRCh37: 22:41573460-41573461
GRCh38: 22:41177456-41177457
32 EP300 NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) Deletion Pathogenic 341826 rs533875300 GRCh37: 22:41574511-41574513
GRCh38: 22:41178507-41178509
33 EP300 NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp) SNV Pathogenic 827631 rs1601642812 GRCh37: 22:41574959-41574959
GRCh38: 22:41178955-41178955
34 EP300 NC_000022.11:g.(?_41151813)_(41152370_?)del Deletion Pathogenic 831260 GRCh37: 22:41547817-41548374
GRCh38:
35 EP300 NC_000022.11:g.(?_41131368)_(41140277_?)del Deletion Pathogenic 832045 GRCh37: 22:41527372-41536281
GRCh38:
36 EP300 NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter) SNV Pathogenic 842871 GRCh37: 22:41564765-41564765
GRCh38: 22:41168761-41168761
37 EP300 NM_001429.4(EP300):c.584C>A (p.Ser195Ter) SNV Pathogenic 861851 GRCh37: 22:41513680-41513680
GRCh38: 22:41117676-41117676
38 EP300 NM_001429.4(EP300):c.4026-9A>G SNV Pathogenic 955890 GRCh37: 22:41564716-41564716
GRCh38: 22:41168712-41168712
39 EP300 NM_001429.4(EP300):c.4073_4074dup (p.Ala1359fs) Duplication Pathogenic 968254 GRCh37: 22:41564770-41564771
GRCh38: 22:41168766-41168767
40 EP300 NM_001429.4(EP300):c.3905dup (p.Glu1303fs) Duplication Pathogenic 916027 GRCh37: 22:41564482-41564483
GRCh38: 22:41168478-41168479
41 EP300 NM_001429.4(EP300):c.832del (p.Thr278fs) Deletion Pathogenic 947782 GRCh37: 22:41521966-41521966
GRCh38: 22:41125962-41125962
42 EP300 NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) SNV Pathogenic 383803 rs1057521737 GRCh37: 22:41569772-41569772
GRCh38: 22:41173768-41173768
43 EP300 NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter) SNV Pathogenic 253312 rs886041830 GRCh37: 22:41551019-41551019
GRCh38: 22:41155015-41155015
44 EP300 NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) Deletion Pathogenic 487228 rs1555910482 GRCh37: 22:41558737-41558740
GRCh38: 22:41162733-41162736
45 EP300 NM_001429.4(EP300):c.2225del (p.Pro742fs) Deletion Pathogenic 1030396 GRCh37: 22:41543933-41543933
GRCh38: 22:41147929-41147929
46 EP300 NM_001429.4(EP300):c.102_103CT[1] (p.Ser35fs) Microsatellite Pathogenic 137620 rs886037664 GRCh37: 22:41513198-41513201
GRCh38: 22:41117194-41117197
47 EP300 NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) SNV Pathogenic 183678 rs139310551 GRCh37: 22:41572404-41572404
GRCh38: 22:41176400-41176400
48 EP300 NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) Duplication Pathogenic 253310 rs1555912040 GRCh37: 22:41572424-41572425
GRCh38: 22:41176420-41176421
49 EP300 NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) SNV Pathogenic 383803 rs1057521737 GRCh37: 22:41569772-41569772
GRCh38: 22:41173768-41173768
50 EP300 NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) SNV Pathogenic 372363 rs1057517732 GRCh37: 22:41572254-41572254
GRCh38: 22:41176250-41176250

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
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45 MESH via Orphanet
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56 OMIM via Orphanet
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