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RTS
MCID: CHR593
MIFTS: 67

Chromosome 16p13.3 Deletion Syndrome, Proximal (RTS)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Chromosome 16p13.3 Deletion Syndrome, Proximal

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MalaCards integrated aliases for Chromosome 16p13.3 Deletion Syndrome, Proximal:

Name: Chromosome 16p13.3 Deletion Syndrome, Proximal 57 71
Rubinstein-Taybi Syndrome 11 24 19 42 58 75 28 53 5 43 14 38 71
Broad Thumb-Hallux Syndrome 11 24 19 42 58
Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion 58 28 5
Chromosome 16p13.3 Deletion Syndrome 57 19 71
Broad Thumbs-Halluces Syndrome 19 58
Rubinstein Syndrome 11 19
Rsts 19 42
Broad Thumbs and Great Toes, Characteristic Facies, and Intellectual Disability 19
Proximal Chromosome 16p13.3 Deletion Syndrome 11
Rubinstein-Taybi Deletion Syndrome 57
16p13.3 Deletion Syndrome 19
Rsts Deletion Syndrome 57
Rts 42

Characteristics:


Inheritance:

Rubinstein-Taybi Syndrome: Autosomal dominant 58

Prevelance:

Rubinstein-Taybi Syndrome: 1-9/1000000 (Netherlands, Europe) 1-9/100000 (Netherlands, Europe) 58

Age Of Onset:

Rubinstein-Taybi Syndrome: Antenatal,Neonatal 58

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Bone diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:1933
OMIM® 57 610543
OMIM Phenotypic Series 57 PS180849
MeSH 43 D012415
NCIt 49 C75466
SNOMED-CT 68 157032007
ICD10 31 Q87.2
MESH via Orphanet 44 D012415
ICD10 via Orphanet 32 Q87.2
UMLS via Orphanet 72 C0035934
MedGen 40 C1864648
UMLS 71 C0035934 C1864648 C3502510
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Summaries for Chromosome 16p13.3 Deletion Syndrome, Proximal

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GARD: 19 Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion.

MalaCards based summary: Chromosome 16p13.3 Deletion Syndrome, Proximal, also known as rubinstein-taybi syndrome, is related to coffin-lowry syndrome and floating-harbor syndrome, and has symptoms including constipation and seizures. An important gene associated with Chromosome 16p13.3 Deletion Syndrome, Proximal is DEL16P13.3 (Chromosome 16p13.3 Deletion Syndrome), and among its related pathways/superpathways are Gene expression (Transcription) and Disease. The drugs Valproic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and kidney, and related phenotypes are intellectual disability and high palate

MedlinePlus Genetics: 42 Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing particular types of noncancerous brain and skin tumors.

Orphanet: 58 A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.

Disease Ontology: 11 A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.

Wikipedia: 75 Rubinstein-Taybi syndrome (RTS) is a rare genetic condition characterized by short stature, moderate to... more...

More information from OMIM: 610543 PS180849
GeneReviews: NBK1526
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Related Diseases for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Diseases related to Chromosome 16p13.3 Deletion Syndrome, Proximal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 441)
# Related Disease Score Top Affiliating Genes
1 coffin-lowry syndrome 32.5 MECP2 H2AC18 CREB1
2 floating-harbor syndrome 32.5 SRCAP SMARCA2 KAT6B H2AC18 CREBBP
3 rubinstein-taybi syndrome 1 32.4 EP300 CREBBP
4 rett syndrome 32.0 SMARCA2 MECP2 HDAC8 CREB1
5 microcephaly 31.4 NIPBL MECP2 KMT2D KAT6B KAT6A HDAC8
6 hypertelorism 31.3 MECP2 KAT6B HDAC8
7 scoliosis 31.2 SRCAP MECP2 KMT2D KAT6B CREBBP
8 cleft palate, isolated 30.9 NIPBL KMT2D H2BC21 H2AC20 H2AC18
9 microphthalmia 30.9 SMARCA2 KAT2B H2AC18 EP300 CREB1
10 interatrial communication 30.9 HDAC8 CREBBP
11 hypertrichosis 30.8 SMARCA2 NIPBL CREBBP
12 otopalatodigital syndrome, type i 30.8 MECP2 H3-7 H2AC18 EP300 CREBBP CREB1
13 atrial heart septal defect 30.8 NIPBL KMT2D KDM4C HDAC8 H2AC18 CREBBP
14 menke-hennekam syndrome 30.8 EP300 CREBBP
15 autosomal dominant intellectual developmental disorder 30.8 SMARCA2 NIPBL H2AC18
16 familial isolated trichomegaly 30.7 SRCAP SMARCA2 NIPBL KMT2D HDAC8 CREBBP
17 cornelia de lange syndrome 30.6 SMARCA2 NIPBL MECP2 HDAC8 H3-7 H2AC18
18 rhabdoid cancer 30.3 SMARCA2 KDM4C H2AC18
19 myelodysplastic syndrome 30.1 KDM4C KAT6A H2AC18 EP300 CREBBP
20 rothmund-thomson syndrome, type 2 11.5
21 pilomatrixoma 11.5
22 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.3
23 menke-hennekam syndrome 1 11.3
24 menke-hennekam syndrome 2 11.3
25 dysostosis 11.3
26 rubinstein-taybi syndrome 2 11.0
27 rothmund-thomson syndrome, type 1 11.0
28 atypical teratoid rhabdoid tumor 11.0
29 malaria 11.0
30 erythrokeratoderma 10.9
31 autism spectrum disorder 10.6
32 autism 10.6
33 intraocular pressure quantitative trait locus 10.6
34 plasmodium falciparum malaria 10.6
35 strabismus 10.5
36 cryptorchidism, unilateral or bilateral 10.5
37 rabies 10.5
38 patent ductus arteriosus 1 10.5
39 ptosis 10.5
40 pre-eclampsia 10.5
41 acute myeloid leukemia with t(8;16)(p11;p13) translocation 10.5 KAT6A CREBBP
42 cornelia de lange syndrome 2 10.4 NIPBL EP300 CREBBP
43 otopalatodigital syndrome spectrum disorder 10.4 H2AC18 EP300 CREBBP
44 bartholin's gland adenoid cystic carcinoma 10.4 SMARCA2 EP300 CREBBP
45 brain stem cancer 10.4 KDM4C H3-7 H2AC18
46 ohdo syndrome, sbbys variant 10.4 SRCAP KAT6B KAT6A
47 nut midline carcinoma 10.4 KDM4C H2AC18 EP300
48 gastroesophageal reflux 10.4
49 coloboma of macula 10.4
50 medulloblastoma 10.4

Graphical network of the top 20 diseases related to Chromosome 16p13.3 Deletion Syndrome, Proximal:



Diseases related to Chromosome 16p13.3 Deletion Syndrome, Proximal
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Symptoms & Phenotypes for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Human phenotypes related to Chromosome 16p13.3 Deletion Syndrome, Proximal:

58 30 (show top 50) (show all 142)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
 HP:0001249
2 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000218
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001263
4 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000316
5 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001999
6 short stature 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
 HP:0004322
7 broad hallux phalanx 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010059
8 broad thumb 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
 HP:0011304
9 feeding difficulties in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008872
10 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000369
11 failure to thrive in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001531
12 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000494
13 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001156
14 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005692
15 telecanthus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000506
16 convex nasal ridge 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
 HP:0000444
17 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001508
18 eeg abnormality 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002353
19 constipation 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
 HP:0002019
20 respiratory insufficiency 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002093
21 delayed skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002750
22 narrow palate 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000189
23 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002205
24 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000431
25 carious teeth 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
 HP:0000670
26 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000252
27 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002020
28 strabismus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000486
29 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
 HP:0000028
30 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007018
31 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000347
32 anxiety 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000739
33 obesity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001513
34 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000286
35 irritability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000737
36 glaucoma 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
 HP:0000501
37 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004209
38 obsessive-compulsive behavior 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000722
39 highly arched eyebrow 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002553
40 generalized hirsutism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002230
41 nasolacrimal duct obstruction 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000579
42 abnormal distal phalanx morphology of finger 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009832
43 clubbing of toes 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100760
44 obstructive sleep apnea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002870
45 impulsivity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100710
46 broad distal phalanx of finger 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009836
47 impaired social interactions 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000735
48 panic attack 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025269
49 broad hallux 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010055
50 agoraphobia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000756

Clinical features from OMIM®:

610543 (Updated 08-Dec-2022)

UMLS symptoms related to Chromosome 16p13.3 Deletion Syndrome, Proximal:


constipation; seizures

GenomeRNAi Phenotypes related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased CDKN1A mRNA expression GR00389-S-1 9.13 EP300 KMT2D SRCAP
2 Increased BBC3 mRNA expression GR00389-S-3 8.8 EP300 KMT2D SRCAP

MGI Mouse Phenotypes related to Chromosome 16p13.3 Deletion Syndrome, Proximal:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 CREB1 CREBBP EP300 HDAC8 KAT2A KAT2B
2 normal MP:0002873 10.1 CREB1 CREBBP EP300 HDAC8 KAT2A KAT2B
3 embryo MP:0005380 10.06 CREB1 CREBBP EP300 HDAC8 KAT2A KAT2B
4 cellular MP:0005384 9.93 CREB1 CREBBP EP300 HDAC8 KAT2A KAT6A
5 craniofacial MP:0005382 9.86 CREBBP EP300 HDAC8 KAT6A KAT6B KMT2D
6 skeleton MP:0005390 9.65 CREB1 CREBBP HDAC8 KAT2A KAT6A KAT6B
7 mortality/aging MP:0010768 9.47 CREB1 CREBBP EP300 HDAC8 KAT2A KAT2B
Sources

Drugs & Therapeutics for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Drugs for Chromosome 16p13.3 Deletion Syndrome, Proximal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
2 Neurotransmitter Agents Phase 2
3 Psychotropic Drugs Phase 2
4 Anticonvulsants Phase 2
5 Histone Deacetylase Inhibitors Phase 2
6 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
2 Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants. Recruiting NCT04122742

Search NIH Clinical Center for Chromosome 16p13.3 Deletion Syndrome, Proximal

Cochrane evidence based reviews: rubinstein-taybi syndrome

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Genetic Tests for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Genetic tests related to Chromosome 16p13.3 Deletion Syndrome, Proximal:

# Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome 28
2 Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion 28
Sources

Anatomical Context for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Organs/tissues related to Chromosome 16p13.3 Deletion Syndrome, Proximal:

MalaCards : Eye, Bone, Kidney, Heart, Skin, Brain, Spinal Cord
Sources

Publications for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Articles related to Chromosome 16p13.3 Deletion Syndrome, Proximal:

(show top 50) (show all 849)
# Title Authors PMID Year
1
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 53 62 24 57 5
17855048 2007
2
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. 62 24 57 5
25805166 2015
3
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. 53 62 24 57
17473832 2007
4
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. 53 62 24 5
17052327 2006
5
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. 62 57 5
12114483 2002
6
Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 62 24 5
18792986 2008
7
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. 53 62 5
14974086 2004
8
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 53 62 5
12566391 2003
9
Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene. 62 5
20583168 2010
10
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. 53 62 24
19833603 2010
11
Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype. 53 62 24
18688873 2008
12
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 62 57
16783566 2006
13
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. 53 62 24
16021471 2005
14
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. 62 57
10573006 1999
15
Cardiac abnormalities in the Rubinstein-Taybi syndrome. 62 57
8599359 1995
16
Rubinstein-Taybi Syndrome with thymic hypoplasia. 62 57
8488874 1993
17
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. 62 24
30892814 2019
18
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. 62 24
30633342 2019
19
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. 62 24
29460469 2018
20
Benign and malignant tumors in Rubinstein-Taybi syndrome. 62 24
29359884 2018
21
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 62 24
27964710 2016
22
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 62 24
27648933 2016
23
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 62 24
27311832 2016
24
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. 5
27257017 2016
25
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. 62 24
27011324 2016
26
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 62 24
26486927 2016
27
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 62 24
25388907 2015
28
Intestinal malrotation in Rubinstein-Taybi syndrome. 62 24
26097216 2015
29
Repetitive behavior in Rubinstein-Taybi syndrome: parallels with autism spectrum phenomenology. 62 24
25491025 2015
30
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
31
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. 62 24
24476420 2015
32
Growth charts for individuals with Rubinstein-Taybi syndrome. 62 24
24989455 2014
33
Epigenetic mechanisms of Rubinstein-Taybi syndrome. 62 24
24381114 2014
34
Germline mosaicism in Rubinstein-Taybi syndrome. 62 24
23352794 2013
35
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. 62 24
23432975 2013
36
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. 62 24
23063576 2013
37
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation. 62 24
23032921 2012
38
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 57
21792059 2011
39
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 57
21844811 2011
40
Adults with Rubinstein-Taybi syndrome. 62 24
21671385 2011
41
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. 57
19786961 2011
42
Penetrance for copy number variants associated with schizophrenia. 57
20587603 2010
43
Inheritance and variable expression in Rubinstein-Taybi syndrome. 62 24
20684013 2010
44
Psychiatric profile in rubinstein-taybi syndrome. A review and case report. 62 24
19940543 2010
45
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. 62 24
19533794 2009
46
Population analysis of large copy number variants and hotspots of human genetic disease. 57
19166990 2009
47
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
48
Rubinstein-Taybi syndrome medical guidelines. 62 24
12749047 2003
49
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. 62 24
12070251 2002
50
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. 62 24
10699051 2000
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Variations for Chromosome 16p13.3 Deletion Syndrome, Proximal

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ClinVar genetic disease variations for Chromosome 16p13.3 Deletion Syndrome, Proximal:

5 (show top 50) (show all 284)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CREBBP GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1 CN LOSS Pathogenic
 1300180 GRCh37:
GRCh38: 16:3727580-3851110
2 CREBBP NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter) SNV Pathogenic
 379578 rs1057520652 GRCh37: 16:3823913-3823913
GRCh38: 16:3773912-3773912
3 CREBBP NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer) INDEL Pathogenic
 639046 rs1596908213 GRCh37: 16:3828119-3828120
GRCh38: 16:3778118-3778119
4 CREBBP NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter) SNV Pathogenic
 650876 rs778375586 GRCh37: 16:3786093-3786093
GRCh38: 16:3736092-3736092
5 overlap with 30 genes NC_000016.10:g.(?_3727698)_(4802591_?)del DEL Pathogenic
 657383 GRCh37: 16:3777699-4852592
GRCh38: 16:3727698-4802591
6 EP300 NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer) DEL Pathogenic
 930113 rs2059050320 GRCh37: 22:41548225-41548226
GRCh38: 22:41152221-41152222
7 CREBBP NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs) DUP Pathogenic
 949875 rs2052073167 GRCh37: 16:3786806-3786807
GRCh38: 16:3736805-3736806
8 CREBBP NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs) INDEL Pathogenic
 969638 rs2051819669 GRCh37: 16:3778644-3778644
GRCh38: 16:3728643-3728643
9 overlap with 17 genes NC_000016.9:g.(?_3293141)_(3929917_?)del DEL Pathogenic
 1455963 GRCh37: 16:3293141-3929917
GRCh38:
10 CREBBP NC_000016.9:g.(?_3841962)_(3843647_?)del DEL Pathogenic
 1455967 GRCh37: 16:3841962-3843647
GRCh38:
11 CREBBP NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter) SNV Pathogenic
 853646 rs2053306001 GRCh37: 16:3832898-3832898
GRCh38: 16:3782897-3782897
12 CREBBP NM_004380.3(CREBBP):c.49del (p.Leu17fs) DEL Pathogenic
 859497 rs2055490182 GRCh37: 16:3929869-3929869
GRCh38: 16:3879868-3879868
13 CREBBP NM_004380.3(CREBBP):c.2233del (p.Ser745fs) DEL Pathogenic
 943635 rs2053092574 GRCh37: 16:3824620-3824620
GRCh38: 16:3774619-3774619
14 CREBBP NM_004380.3(CREBBP):c.1663del (p.Leu555fs) DEL Pathogenic
 947511 rs2053266530 GRCh37: 16:3831218-3831218
GRCh38: 16:3781217-3781217
15 CREBBP NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs) DEL Pathogenic
 959962 rs2053305017 GRCh37: 16:3832863-3832870
GRCh38: 16:3782862-3782869
16 CREBBP NM_004380.3(CREBBP):c.36del (p.Arg14fs) DEL Pathogenic
 960417 rs2055490682 GRCh37: 16:3929882-3929882
GRCh38: 16:3879881-3879881
17 CREBBP NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) SNV Pathogenic
 694799 rs1596920501 GRCh37: 16:3832709-3832709
GRCh38: 16:3782708-3782708
18 CREBBP NM_004380.3(CREBBP):c.3676del (p.Ala1226fs) DEL Pathogenic
 1070983 GRCh37: 16:3807311-3807311
GRCh38: 16:3757310-3757310
19 CREBBP NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs) DEL Pathogenic
 1071243 GRCh37: 16:3786082-3786086
GRCh38: 16:3736081-3736085
20 CREBBP NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter) SNV Pathogenic
 1071591 GRCh37: 16:3860777-3860777
GRCh38: 16:3810776-3810776
21 CREBBP NC_000016.10:g.(?_3780712)_(3781326_?)del DEL Pathogenic
 651826 GRCh37: 16:3830713-3831327
GRCh38: 16:3780712-3781326
22 CREBBP NM_004380.3(CREBBP):c.1855dup (p.Ala619fs) DUP Pathogenic
 658697 rs1596909915 GRCh37: 16:3828786-3828787
GRCh38: 16:3778785-3778786
23 CREBBP NM_004380.3(CREBBP):c.2322del (p.Asn774fs) DEL Pathogenic
 658712 rs1596895545 GRCh37: 16:3823893-3823893
GRCh38: 16:3773892-3773892
24 CREBBP NC_000016.10:g.(?_3757268)_(3757396_?)del DEL Pathogenic
 832459 GRCh37: 16:3807269-3807397
GRCh38:
25 CREBBP NC_000016.10:g.(?_3810583)_(3879936_?)del DEL Pathogenic
 832520 GRCh37: 16:3860584-3929937
GRCh38:
26 CREBBP NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs) DUP Pathogenic
 644368 rs1596786167 GRCh37: 16:3779191-3779192
GRCh38: 16:3729190-3729191
27 CREBBP NM_004380.3(CREBBP):c.3369+1G>A SNV Pathogenic
 664200 rs587783480 GRCh37: 16:3808854-3808854
GRCh38: 16:3758853-3758853
28 CREBBP NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs) MICROSAT Pathogenic
 585288 rs1567263114 GRCh37: 16:3779406-3779407
GRCh38: 16:3729405-3729406
29 CREBBP NM_004380.3(CREBBP):c.4561-2A>T SNV Pathogenic
 1459112 GRCh37: 16:3786206-3786206
GRCh38: 16:3736205-3736205
30 CREBBP NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter) SNV Pathogenic
 1452058 GRCh37: 16:3831263-3831263
GRCh38: 16:3781262-3781262
31 CREBBP NC_000016.10:g.(?_3727698)_(3810799_?)del DEL Pathogenic
 832589 GRCh37: 16:3777699-3860800
GRCh38:
32 CREBBP NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter) SNV Pathogenic
 851163 rs2052070776 GRCh37: 16:3786719-3786719
GRCh38: 16:3736718-3736718
33 CREBBP NM_004380.3(CREBBP):c.1941+5G>A SNV Pathogenic
 852536 rs2053202354 GRCh37: 16:3828696-3828696
GRCh38: 16:3778695-3778695
34 CREBBP NM_004380.3(CREBBP):c.2464-6T>A SNV Pathogenic
 952068 rs2052993184 GRCh37: 16:3820993-3820993
GRCh38: 16:3770992-3770992
35 CREBBP NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs) DUP Pathogenic
 1076909 GRCh37: 16:3781420-3781421
GRCh38: 16:3731419-3731420
36 CREBBP NM_004380.3(CREBBP):c.3836+1G>A SNV Pathogenic
 158361 rs200782888 GRCh37: 16:3799627-3799627
GRCh38: 16:3749626-3749626
37 overlap with 2 genes NC_000016.9:g.(?_3711968)_(3781958_?)del DEL Pathogenic
 1457650 GRCh37: 16:3711968-3781958
GRCh38:
38 CREBBP NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter) SNV Pathogenic
 1451776 GRCh37: 16:3779266-3779266
GRCh38: 16:3729265-3729265
39 CREBBP NM_004380.3(CREBBP):c.472del (p.Gln158fs) DEL Pathogenic
 458200 rs1555496581 GRCh37: 16:3900624-3900624
GRCh38: 16:3850623-3850623
40 CREBBP NM_004380.3(CREBBP):c.1917dup (p.Met640fs) DUP Pathogenic
 571048 rs1567306142 GRCh37: 16:3828724-3828725
GRCh38: 16:3778723-3778724
41 CREBBP NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs) DUP Pathogenic
 527960 rs1555473668 GRCh37: 16:3789628-3789629
GRCh38: 16:3739627-3739628
42 CREBBP NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter) SNV Pathogenic
 527962 rs1555471874 GRCh37: 16:3781351-3781351
GRCh38: 16:3731350-3731350
43 CREBBP NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter) SNV Pathogenic
 527961 rs1555472931 GRCh37: 16:3786102-3786102
GRCh38: 16:3736101-3736101
44 CREBBP NM_004380.3(CREBBP):c.1941+1G>A SNV Pathogenic
 527959 rs1555483834 GRCh37: 16:3828700-3828700
GRCh38: 16:3778699-3778699
45 CREBBP NM_004380.3(CREBBP):c.3836+1G>C SNV Pathogenic
 568079 rs200782888 GRCh37: 16:3799627-3799627
GRCh38: 16:3749626-3749626
46 CREBBP NM_004380.3(CREBBP):c.3977del (p.Ala1326fs) DEL Pathogenic
 566424 rs1567276741 GRCh37: 16:3794900-3794900
GRCh38: 16:3744899-3744899
47 CREBBP NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs) DEL Pathogenic
 458203 rs1555471323 GRCh37: 16:3779345-3779354
GRCh38: 16:3729344-3729353
48 CREBBP NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) SNV Pathogenic
 458197 rs1555484797 GRCh37: 16:3832811-3832811
GRCh38: 16:3782810-3782810
49 CREBBP NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) SNV Pathogenic
 527965 rs1555473491 GRCh37: 16:3788560-3788560
GRCh38: 16:3738559-3738559
50 CREBBP NC_000016.9:g.(?_3900278)_(3929917_?)del DEL Pathogenic
 1458408 GRCh37: 16:3900278-3929917
GRCh38:

Copy number variations for Chromosome 16p13.3 Deletion Syndrome, Proximal from CNVD:

6 (show all 14)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 97337 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
2 13809 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
3 164836 22 39892913 39898247 Deletion EP300 Rubinstein-Taybi syndrome
4 101452 16 3726327 3728439 Deletion CREBBP Rubinstein-Taybi syndrome
5 101433 16 3715056 3870122 Copy number CREBBP Rubinstein-Taybi syndrome
6 101413 16 3651083 3771464 Microdeletion TRAP1 Rubinstein-Taybi syndrome
7 101412 16 3651083 3771464 Microdeletion CREBBP Rubinstein-Taybi syndrome
8 97362 16 1 6300000 Microdeletion Rubinstein-Taybi syndrome
9 97361 16 1 6300000 Microdeletion Rubinstein-Taybi syndrome
10 97345 16 1 6300000 Deletion Rubinstein-Taybi syndrome
11 97344 16 1 6300000 Deletion Rubinstein-Taybi syndrome
12 97343 16 1 6300000 Deletion Rubinstein-Taybi syndrome
13 97338 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
14 222428 7 15200000 19500000 Microdeletion Rubinstein-Taybi syndrome
Sources

Expression for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Search GEO for disease gene expression data for Chromosome 16p13.3 Deletion Syndrome, Proximal.
Sources

Pathways for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Pathways related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Gene expression (Transcription) 66
Show member pathways
 13.99 SMARCA2 MECP2 KMT2D KAT6A KAT2B KAT2A
2
Disease 66
Show member pathways
 13.74 MECP2 KAT2B KAT2A HDAC8 H2BC21 H2AC20
3
Signal Transduction 66
13.68 KMT2D KDM4C KAT2B KAT2A HDAC8 H2BC21
4
Nervous system development 66
Show member pathways
 13.65 CREB1 CREBBP EP300 H2AC18 H2AC20 H2BC21
5
RNA Polymerase I Promoter Opening 66
Show member pathways
 13.56 SMARCA2 KMT2D KDM4C KAT2B KAT2A HDAC8
6
RAF/MAP kinase cascade 66
Show member pathways
 13.32 MECP2 KAT2B KAT2A HDAC8 EP300 CREBBP
7
Assembly of the pre-replicative complex 66
Show member pathways
 12.97 SMARCA2 KMT2D KAT2B H2BC21 H2AC20 H2AC18
8
ESR-mediated signaling 66
Show member pathways
 12.91 KAT2B H2BC21 H2AC20 H2AC18 EP300 CREBBP
9
Signaling by WNT 66
Show member pathways
 12.83 KMT2D H2BC21 H2AC20 H2AC18 EP300 CREBBP
10
Deubiquitination 66
Show member pathways
 12.78 EP300 H2AC18 H2AC20 H2BC21 KAT2A KAT2B
11
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants 66
Show member pathways
 12.65 KAT2B KAT2A HDAC8 EP300 CREBBP
12
Chromatin Regulation / Acetylation 3
12.29 CREBBP EP300 KAT2A KAT2B MECP2 SMARCA2
13
Pre-NOTCH Expression and Processing 66
Show member pathways
 12.28 KAT2B KAT2A HDAC8 H2BC21 H2AC20 H2AC18
14
Chromatin organization 66
Show member pathways
 12.28 SMARCA2 KMT2D KDM4C KAT6B KAT6A KAT2B
15
Sudden infant death syndrome (SIDS) susceptibility pathways 74
12.11 CREB1 CREBBP EP300 MECP2
16
Signaling events mediated by HDAC Class I 61
Show member pathways
 12 KAT2B HDAC8 H2BC21 H2AC20 EP300 CREBBP
17
Gastrulation 66
Show member pathways
 11.92 KAT2B KAT2A EP300 CREBBP
18
Development Notch Signaling Pathway 22
Show member pathways
 11.91 KAT2B KAT2A EP300
19
Regulation of beta-cell development 66
Show member pathways
 11.82 KAT2B KAT2A EP300 CREBBP
20
CCL18 signaling pathway 74
11.81 KAT2B EP300 CREB1
21
Activation of NF-KappaB by PKR 64
Show member pathways
 11.75 CREB1 CREBBP EP300 KAT2B
22
Regulation of nuclear SMAD2/3 signaling 61
11.68 CREB1 EP300 KAT2A KAT2B
23
Transcription_P53 signaling pathway 22
11.66 KAT2B HDAC8 EP300 CREBBP
24
Signaling by NOTCH3 66
Show member pathways
 11.66 CREBBP EP300 KAT2A KAT2B
25
E2F transcription factor network 61
11.64 SMARCA2 KAT2B KAT2A
26
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11.62 SMARCA2 KAT2B EP300 CREBBP
27
HIF1Alpha Pathway 64
11.54 EP300 CREBBP CREB1
28
Notch Signaling (Qiagen) 64
Show member pathways
 11.52 KAT2B KAT2A HDAC8 CREBBP
29
Rett syndrome causing genes 74
11.48 SMARCA2 MECP2 HDAC8
30
Notch signaling (WikiPathways) 74
11.45 KAT2B KAT2A CREBBP
31
Pathways affected in adenoid cystic carcinoma 74
11.35 CREBBP EP300 KAT6A SMARCA2 SRCAP
32
Initiation of transcription and translation elongation at the HIV-1 LTR 74
11.27 HDAC8 EP300 CREBBP
33
Metalloprotease DUBs 66
11.19 KAT2B H2AC20 H2AC18 EP300
34
15q13.3 copy number variation syndrome 74
10.92 KAT2B CREBBP
Sources

GO Terms for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Cellular components related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.58 CREB1 CREBBP EP300 H2AC18 H2AC20 H2BC21
2 nucleoplasm GO:0005654 10.43 CREB1 CREBBP EP300 H2BC21 HDAC8 KAT2A
3 nucleosome GO:0000786 9.8 SRCAP KAT6B KAT6A H3-7 H2BC21 H2AC20
4 chromosome GO:0005694 9.76 EP300 H2AC18 H2AC20 H2BC21 H3-7 HDAC8
5 MOZ/MORF histone acetyltransferase complex GO:0070776 9.67 KAT6A KAT6B
6 histone acetyltransferase complex GO:0000123 9.32 KAT6B KAT6A KAT2B KAT2A EP300 CREBBP

Biological processes related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.45 CREB1 CREBBP EP300 KAT2A KAT2B KAT6A
2 regulation of transcription by RNA polymerase II GO:0006357 10.44 KAT2B KAT2A HDAC8 EP300 CREB1 KDM4C
3 regulation of DNA-templated transcription GO:0006355 10.41 SRCAP SMARCA2 KMT2D KAT6B KAT6A KAT2B
4 positive regulation of DNA-templated transcription GO:0045893 10.23 CREB1 CREBBP EP300 KAT2A KAT2B KAT6A
5 chromatin remodeling GO:0006338 10.21 SRCAP SMARCA2 KDM4C KAT2B KAT2A
6 histone H3 acetylation GO:0043966 10.1 KAT2A KAT2B KAT6A KAT6B
7 regulation of embryonic development GO:0045995 10.03 NIPBL KAT2B KAT2A
8 rhythmic process GO:0048511 10 KAT2B EP300 CREBBP CREB1
9 chromatin organization GO:0006325 9.97 SRCAP SMARCA2 KMT2D KDM4C KAT6B KAT6A
10 internal peptidyl-lysine acetylation GO:0018393 9.91 EP300 KAT2A KAT2B
11 DNA-templated transcription GO:0006351 9.88 CREBBP KAT2B KAT6A KAT6B
12 regulation of tubulin deacetylation GO:0090043 9.88 KAT2B KAT2A EP300
13 negative regulation of centriole replication GO:0046600 9.87 KAT2B KAT2A
14 peptidyl-lysine acetylation GO:0018394 9.85 EP300 KAT2B
15 DNA-templated transcription elongation GO:0006354 9.72 KAT6B KAT6A KAT2B EP300 CREBBP
16 N-terminal peptidyl-lysine acetylation GO:0018076 9.63 KAT2B EP300 CREBBP
17 protein acetylation GO:0006473 9.56 KAT6A KAT2B EP300 CREBBP
18 histone acetylation GO:0016573 9.4 SRCAP MECP2 KAT6B KAT6A KAT2B KAT2A

Molecular functions related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.49 CREB1 EP300 H2AC18 H2AC20 H2BC21 H3-7
2 chromatin binding GO:0003682 10.32 CREBBP EP300 KAT2A KAT2B MECP2 NIPBL
3 histone binding GO:0042393 10.22 SRCAP SMARCA2 KMT2D KAT6B KAT6A
4 transcription coactivator activity GO:0003713 10.19 CREBBP EP300 KAT2A KAT2B KAT6A KAT6B
5 DNA-binding transcription factor binding GO:0140297 10.18 CREBBP EP300 HDAC8 KAT2A KAT2B KAT6A
6 transferase activity GO:0016740 10.16 KMT2D KAT6B KAT6A KAT2B KAT2A GLYATL1
7 structural constituent of chromatin GO:0030527 10.14 H3-7 H2BC21 H2AC20 H2AC18
8 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 10.11 CREB1 CREBBP EP300 KAT6A KAT6B
9 transcription coregulator activity GO:0003712 10.06 KAT6B KAT6A KAT2B EP300 CREBBP
10 acyltransferase activity GO:0016746 9.92 KAT6B KAT6A KAT2B KAT2A GLYATL1 EP300
11 histone H3 acetyltransferase activity GO:0010484 9.91 KAT6A KAT2B KAT2A EP300
12 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor GO:0004468 9.87 KAT2B EP300
13 acetyltransferase activity GO:0016407 9.85 KAT6B KAT6A KAT2B KAT2A EP300 CREBBP
14 peptide N-acetyltransferase activity GO:0034212 9.8 EP300 CREBBP
15 histone H4K12 acetyltransferase activity GO:0043997 9.75 KAT6A KAT2A
16 peptide-lysine-N-acetyltransferase activity GO:0061733 9.61 CREBBP EP300 KAT2A KAT2B KAT6B
17 histone H3K14 acetyltransferase activity GO:0036408 9.55 KAT6B KAT6A
18 histone acetyltransferase activity GO:0004402 9.47 SRCAP KAT6B KAT6A KAT2B KAT2A EP300
Sources

Sources for Chromosome 16p13.3 Deletion Syndrome, Proximal

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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