RTS
MCID: CHR593
MIFTS: 62

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

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

Aliases & Classifications for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

Name: Chromosome 16p13.3 Deletion Syndrome, Proximal 56 29 6 71
Rubinstein-Taybi Syndrome 12 74 24 52 25 58 36 29 54 6 43 15 71
Broad Thumb-Hallux Syndrome 12 24 52 25 58
Chromosome 16p13.3 Deletion Syndrome 56 52 13 71
Broad Thumbs-Halluces Syndrome 52 58
Rubinstein Syndrome 12 52
Rsts 52 25
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 52
Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion 58
Proximal Chromosome 16p13.3 Deletion Syndrome 12
Rubinstein-Taybi Deletion Syndrome 56
Syndrome, Rubinstein-Taybi 39
16p13.3 Deletion Syndrome 52
Rsts Deletion Syndrome 56
Rts 25

Characteristics:

Orphanet epidemiological data:

58
rubinstein-taybi syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

HPO:

31
chromosome 16p13.3 deletion syndrome, proximal:
Clinical modifier death in infancy
Inheritance somatic mosaicism autosomal dominant contiguous gene syndrome


Classifications:

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 12 DOID:1933
OMIM 56 610543
OMIM Phenotypic Series 56 PS180849
KEGG 36 H00504
MeSH 43 D012415
NCIt 49 C75466
SNOMED-CT 67 45582004
ICD10 32 Q87.2
MESH via Orphanet 44 D012415
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C0035934
MedGen 41 C1864648
UMLS 71 C0035934 C1864648 C3502510

Summaries for Chromosome 16p13.3 Deletion Syndrome, Proximal

NIH Rare Diseases : 52 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. Treatment is based on the signs and symptoms present in each person. To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders .

MalaCards based summary : Chromosome 16p13.3 Deletion Syndrome, Proximal, also known as rubinstein-taybi syndrome, is related to floating-harbor syndrome and rubinstein-taybi syndrome 1, and has symptoms including seizures and constipation. 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 Signaling by GPCR and Apoptotic Pathways in Synovial Fibroblasts. The drugs Valproic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and thyroid, and related phenotypes are intellectual disability and seizures

Genetics Home Reference : 25 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 noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome. Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a failure to gain weight and grow at the expected rate (failure to thrive) and life-threatening infections. Infants born with this severe form of the disorder usually survive only into early childhood.

KEGG : 36 Rubinstein-Taybi syndrome is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome.

Wikipedia : 74 Rubinstein-Taybi syndrome (RTS), is a condition characterized by short stature, moderate to severe... more...

More information from OMIM: 610543 PS180849
GeneReviews: NBK1526

Related Diseases for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

(show top 50) (show all 1098)
# Related Disease Score Top Affiliating Genes
1 floating-harbor syndrome 33.6 SRCAP CREBBP
2 rubinstein-taybi syndrome 1 33.4 EP300 CREBBP
3 coffin-lowry syndrome 33.1 MECP2 H2AC18 CREB1
4 cornelia de lange syndrome 31.1 MECP2 H3-2 H2AC18 EP300 CREBBP
5 leukemia, acute lymphoblastic 31.0 MIR9-1 KDM4C H2AC18 EP300 CREBBP
6 human t-cell leukemia virus type 1 30.8 EP300 CREBBP CREB1
7 leukemia, chronic myeloid 30.6 MIR9-1 KDM4C H4-16 H2AC18 CREBBP CREB1
8 fragile x syndrome 30.2 MIR9-1 MECP2 H4-16 H2AC18
9 mental depression 30.1 MIR9-1 H2AC18 CREB1
10 leukemia, acute monocytic 30.0 KAT6A H2AC18 EP300 CREBBP
11 leukemia, acute myeloid 29.5 MIR9-1 KDM4C KAT6A H4C14 H4C13 H4C12
12 rothmund-thomson syndrome, type 2 12.3
13 atypical teratoid rhabdoid tumor 12.1
14 pilomatrixoma 12.0
15 rhabdoid cancer 11.8
16 obsolete: atypical teratoid/rhabdoid tumor 11.6
17 rhabdoid tumor predisposition syndrome 1 11.5
18 dengue disease 11.5
19 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.5
20 rapadilino syndrome 11.5
21 rett syndrome 11.4
22 rubinstein-taybi syndrome 2 11.3
23 congenital toxoplasmosis 11.2
24 erythrokeratoderma 11.2
25 strabismus 10.6
26 mechanical strabismus 10.6
27 acute myeloid leukemia with t(8;16)(p11;p13) translocation 10.6 KAT6A CREBBP
28 hypertelorism 10.6
29 cryptorchidism, unilateral or bilateral 10.6
30 patent ductus arteriosus 1 10.6
31 ptosis 10.6
32 human t-cell leukemia virus type 2 10.6 EP300 CREBBP CREB1
33 human immunodeficiency virus type 1 10.6
34 gastroenteritis 10.6
35 syndromic intellectual disability 10.5 MECP2 KAT6A H2AC18
36 fetal alcohol syndrome 10.5 MIR9-1 KDM4C H2AC18
37 spinocerebellar ataxia 7 10.5 MIR9-1 KAT2B H2AC18
38 alpha thalassemia-x-linked intellectual disability syndrome 10.5 MECP2 H3-2 H2AC18
39 coloboma of macula 10.5
40 avian influenza 10.5
41 diarrhea 10.5
42 mouth disease 10.5
43 neonatal leukemia 10.5 KAT6A CREBBP
44 mature b-cell neoplasm 10.5 MIR9-1 KDM4C H2AC18
45 toxic encephalopathy 10.5 MIR9-1 H2AC18 CREB1
46 sotos syndrome 1 10.5 MECP2 H3-2 H2AC18
47 immunodeficiency-centromeric instability-facial anomalies syndrome 10.5 MECP2 H3-2 H2AC18
48 bile duct adenocarcinoma 10.5 MIR9-1 KDM4C H2AC18
49 dengue virus 10.5
50 chromosomal deletion syndrome 10.5 MIR9-1 MECP2 H2AC18

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



Diseases related to Chromosome 16p13.3 Deletion Syndrome, Proximal

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

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

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
2 seizures 58 31 Occasional (29-5%) HP:0001250
3 high palate 58 31 Very frequent (99-80%) HP:0000218
4 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
5 micrognathia 58 31 Frequent (79-30%) HP:0000347
6 downslanted palpebral fissures 58 31 Very frequent (99-80%) HP:0000494
7 microcephaly 58 31 Frequent (79-30%) HP:0000252
8 broad thumb 58 31 Very frequent (99-80%) HP:0011304
9 feeding difficulties in infancy 58 31 Very frequent (99-80%) HP:0008872
10 strabismus 58 31 Frequent (79-30%) HP:0000486
11 clinodactyly of the 5th finger 58 31 Frequent (79-30%) HP:0004209
12 convex nasal ridge 58 31 Very frequent (99-80%) HP:0000444
13 hypertelorism 58 Very frequent (99-80%)
14 low-set ears 58 Very frequent (99-80%)
15 obesity 31 HP:0001513
16 finger syndactyly 58 Occasional (29-5%)
17 failure to thrive 31 HP:0001508
18 sleep disturbance 31 HP:0002360
19 scoliosis 31 HP:0002650
20 ptosis 58 Occasional (29-5%)
21 constipation 58 Frequent (79-30%)
22 muscular hypotonia 31 HP:0001252
23 respiratory insufficiency 58 Frequent (79-30%)
24 hearing impairment 58 Occasional (29-5%)
25 hip dysplasia 58 Occasional (29-5%)
26 abnormality of the dentition 58 Frequent (79-30%)
27 wide nasal bridge 58 Frequent (79-30%)
28 carious teeth 58 Frequent (79-30%)
29 abnormal facial shape 31 HP:0001999
30 brachydactyly 58 Very frequent (99-80%)
31 short stature 58 Very frequent (99-80%)
32 cryptorchidism 58 Frequent (79-30%)
33 broad hallux phalanx 58 Very frequent (99-80%)
34 polyhydramnios 58 Occasional (29-5%)
35 highly arched eyebrow 58 Frequent (79-30%)
36 irritability 58 Frequent (79-30%)
37 malformation of the heart and great vessels 58 Frequent (79-30%)
38 joint hyperflexibility 58 Very frequent (99-80%)
39 epicanthus 58 Frequent (79-30%)
40 generalized hirsutism 58 Frequent (79-30%)
41 attention deficit hyperactivity disorder 58 Frequent (79-30%)
42 anxiety 58 Frequent (79-30%)
43 failure to thrive in infancy 58 Very frequent (99-80%)
44 myopia 31 HP:0000545
45 atypical scarring of skin 58 Occasional (29-5%)
46 hypoplastic left heart 31 HP:0004383
47 telecanthus 58 Very frequent (99-80%)
48 capillary hemangioma 58 Occasional (29-5%)
49 low hanging columella 31 HP:0009765
50 clubbing of toes 58 Frequent (79-30%)

Clinical features from OMIM:

610543

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


seizures, constipation

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

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.95 H4-16 KAT2B KAT6A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.95 H4C11 H4C12
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.95 EP300 H4-16 H4C11 H4C12 H4C13 MECP2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.95 H4C13
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.95 EP300 H4C13
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-172 9.95 KAT6A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.95 KAT6A H4C13
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.95 EP300
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.95 KAT6A
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.95 MECP2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.95 KAT2B H4C11 H4C12
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.95 KAT2B
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.95 EP300
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.95 H4C11 H4C12
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.95 EP300
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.95 EP300 H4-16 KAT2B KAT6A
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.95 KAT6A

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

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

(show all 10)
# 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 Tranquilizing Agents Phase 2
4 Psychotropic Drugs Phase 2
5 GABA Agents Phase 2
6 Anticonvulsants Phase 2
7 Antimanic Agents Phase 2
8 Central Nervous System Depressants Phase 2
9 Histone Deacetylase Inhibitors Phase 2
10 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 Clinical Phase I/II Trial to Investigate Preoperative Dose-Escalated Intensity-Modulated Radiation Therapy (IMRT) and Intraoperative Radiation Therapy (IORT) in Patients With Retroperitoneal Soft Tissue Sarcoma Active, not recruiting NCT01566123 Phase 1, Phase 2
3 Mechanisms and Functional Outcomes of Exercise Progression Models in the Elderly Completed NCT01899586
4 A Comparison of Available Rapid Streptococcus A Tests in Community Clinics in Israel: Accuracy, Ease of Use and Acceptability. Completed NCT00535093
5 Long Term Morbidity and Quality of Life After Multivisceral Resection for Primary Retroperitoneal Soft Tissue Sarcomas: a Prospective Observational Study Active, not recruiting NCT03480399
6 Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP Variants. Not yet recruiting NCT04122742
7 Heart Failure and Regional Specific Exercise Training Stimulus Withdrawn NCT02077426

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

Cochrane evidence based reviews: rubinstein-taybi syndrome

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

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

# Genetic test Affiliating Genes
1 Chromosome 16p13.3 Deletion Syndrome, Proximal 29
2 Rubinstein-Taybi Syndrome 29

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

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

40
Heart, Kidney, Thyroid, Brain, T Cells, Bone, Eye

Publications for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

(show top 50) (show all 638)
# Title Authors PMID Year
1
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. 61 56 6
12114483 2002
2
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. 61 24 56
25805166 2015
3
Inheritance and variable expression in Rubinstein-Taybi syndrome. 61 24 6
20684013 2010
4
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 61 24 56
17855048 2007
5
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. 61 24 56
17473832 2007
6
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 61 6
27465822 2016
7
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 61 6
24352918 2014
8
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. 61 6
20014264 2010
9
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. 61 6
19353645 2009
10
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. 61 6
17299436 2007
11
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 61 56
16783566 2006
12
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 61 6
15706485 2005
13
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 61 6
12566391 2003
14
Rubinstein-Taybi Syndrome 61 6
20301699 2002
15
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. 61 6
11331617 2001
16
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. 61 56
10573006 1999
17
Cardiac abnormalities in the Rubinstein-Taybi syndrome. 61 56
8599359 1995
18
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. 61 6
7630403 1995
19
Rubinstein-Taybi Syndrome with thymic hypoplasia. 61 56
8488874 1993
20
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. 61 24
30892814 2019
21
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. 61 24
30633342 2019
22
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. 61 24
29460469 2018
23
Benign and malignant tumors in Rubinstein-Taybi syndrome. 61 24
29359884 2018
24
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 61 24
27648933 2016
25
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 61 24
27964710 2016
26
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 61 24
27311832 2016
27
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. 61 24
27011324 2016
28
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 61 24
26486927 2016
29
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 61 24
25388907 2015
30
Intestinal malrotation in Rubinstein-Taybi syndrome. 61 24
26097216 2015
31
Repetitive behavior in Rubinstein-Taybi syndrome: parallels with autism spectrum phenomenology. 61 24
25491025 2015
32
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. 61 24
24476420 2015
33
Growth charts for individuals with Rubinstein-Taybi syndrome. 61 24
24989455 2014
34
Epigenetic mechanisms of Rubinstein-Taybi syndrome. 61 24
24381114 2014
35
Germline mosaicism in Rubinstein-Taybi syndrome. 61 24
23352794 2013
36
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. 61 24
23432975 2013
37
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. 61 24
23063576 2013
38
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation. 61 24
23032921 2012
39
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 56
21792059 2011
40
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 56
21844811 2011
41
The Deciphering Developmental Disorders (DDD) study. 6
21679367 2011
42
Adults with Rubinstein-Taybi syndrome. 61 24
21671385 2011
43
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. 56
19786961 2011
44
Penetrance for copy number variants associated with schizophrenia. 56
20587603 2010
45
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. 61 24
19833603 2010
46
Psychiatric profile in rubinstein-taybi syndrome. A review and case report. 61 24
19940543 2010
47
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. 61 24
19533794 2009
48
Population analysis of large copy number variants and hotspots of human genetic disease. 56
19166990 2009
49
Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 61 24
18792986 2008
50
Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype. 61 24
18688873 2008

Variations for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CREBBP NC_000016.9:g.(?_3817701)_(3817930_?)dupduplication Pathogenic 583499 16:3817701-3817930 16:3767700-3767929
2 CREBBP NM_001079846.1(CREBBP):c.5525_5526AG[1] (p.Leu1844fs)short repeat Pathogenic 585288 rs1567263114 16:3779406-3779407 16:3729405-3729406
3 CREBBP NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs)duplication Pathogenic 644368 16:3779191-3779192 16:3729190-3729191
4 CREBBP NM_001079846.1(CREBBP):c.4558C>T (p.Gln1520Ter)SNV Pathogenic 650876 16:3786093-3786093 16:3736092-3736092
5 CREBBP NM_001079846.1(CREBBP):c.4445A>G (p.Lys1482Arg)SNV Pathogenic 645503 16:3786652-3786652 16:3736651-3736651
6 CREBBP NM_001079846.1(CREBBP):c.2641C>T (p.Gln881Ter)SNV Pathogenic 649692 16:3820696-3820696 16:3770695-3770695
7 CREBBP NM_004380.3(CREBBP):c.2322del (p.Asn774fs)deletion Pathogenic 658712 16:3823893-3823893 16:3773892-3773892
8 CREBBP NM_001079846.1(CREBBP):c.1891_1892delinsT (p.Lys630_Arg631insTer)indel Pathogenic 639046 16:3828119-3828120 16:3778118-3778119
9 CREBBP NM_004380.3(CREBBP):c.1855dup (p.Ala619fs)duplication Pathogenic 658697 16:3828786-3828787 16:3778785-3778786
10 CREBBP NM_001079846.1(CREBBP):c.314_315del (p.Gly105fs)deletion Pathogenic 654784 16:3900781-3900782 16:3850780-3850781
11 subset of 29 genes: CREBBP NC_000016.9:g.(?_3777699)_(4852592_?)deldeletion Pathogenic 657383 16:3777699-4852592 16:3727698-4802591
12 CREBBP NC_000016.9:g.(?_3830713)_(3831327_?)deldeletion Pathogenic 651826 16:3830713-3831327 16:3780712-3781326
13 CREBBP NM_001079846.1(CREBBP):c.3255+1G>ASNV Likely pathogenic 664200 16:3808854-3808854 16:3758853-3758853
14 CREBBP NM_001079846.1(CREBBP):c.4351C>G (p.Pro1451Ala)SNV Uncertain significance 647863 16:3786746-3786746 16:3736745-3736745
15 EP300 NM_001429.4(EP300):c.363G>C (p.Met121Ile)SNV Uncertain significance 634578 rs757476470 22:41513459-41513459 22:41117455-41117455
16 CREBBP NM_001079846.1(CREBBP):c.6270_6287del (p.Gln2090_Met2095del)deletion Uncertain significance 650857 16:3778647-3778664 16:3728646-3728663
17 CREBBP NM_001079846.1(CREBBP):c.6944_6964del (p.Arg2315_Pro2321del)deletion Uncertain significance 582844 rs766383937 16:3777970-3777990 16:3727969-3727989
18 ABCC1 , ABCC6 , BMERB1 , CEP20 , MARF1 , MPV17L , MYH11 , NDE1 , NPIPA5 , RRN3 deletion not provided 684459 16:15154115-16276115

Expression for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

Pathways for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.16 KDM4C KAT2B H4C14 H4C13 H4C12 H4C11
2
Show member pathways
13.81 KAT2B H4C14 H4C13 H4C12 H4C11 H4C1
3
Show member pathways
13.8 KAT6A KAT2B H4C14 H4C13 H4C12 H4C11
4
Show member pathways
13.77 KAT2B H4C14 H4C13 H4C12 H4C11 H4C1
5
Show member pathways
13.77 KDM4C KAT2B H4C14 H4C13 H4C12 H4C11
6
Show member pathways
13.5 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
7
Show member pathways
13.42 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
8
Show member pathways
13.21 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
9
Show member pathways
13.12 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
10
Show member pathways
13.04 KAT2B H4C14 H4C13 H4C12 H4C11 H4C1
11
Show member pathways
13.04 KDM4C H4C14 H4C13 H4C12 H4C11 H4C1
12
Show member pathways
12.83 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
13
Show member pathways
12.81 KDM4C KAT6A KAT2B H4C14 H4C13 H4C12
14
Show member pathways
12.72 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
15
Show member pathways
12.67 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
16
Show member pathways
12.57 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
17
Show member pathways
12.47 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
18 12.43 MECP2 KAT2B H4C1 EP300 CREBBP
19
Show member pathways
12.36 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
20 12.32 KAT2B EP300 CREBBP CREB1
21
Show member pathways
12.3 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
22
Show member pathways
12.21 KAT2B EP300 CREBBP CREB1
23
Show member pathways
12.21 KAT2B H4C14 H4C13 H4C12 H4C11 H4C1
24 12.14 MECP2 EP300 CREBBP CREB1
25
Show member pathways
12.14 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
26 11.89 EP300 CREBBP CREB1
27 11.88 KAT2B EP300 CREBBP CREB1
28 11.79 KAT2B EP300 CREBBP CREB1
29 11.77 EP300 CREBBP CREB1
30 11.72 KAT2B EP300 CREBBP
31 11.71 SRCAP KAT6A EP300 CREBBP
32
Show member pathways
11.69 KAT2B EP300 CREBBP
33 11.67 KAT2B H4C14 H4C13 H4C12 H4C11 H4C1
34 11.66 KAT2B EP300 CREBBP
35 11.65 EP300 CREBBP CREB1
36 11.61 KAT2B EP300 CREBBP
37
Show member pathways
11.57 KAT2B EP300 CREBBP CREB1
38 11.56 EP300 CREBBP CREB1
39 11.52 KAT2B EP300 CREBBP
40 11.49 KAT2B EP300 CREBBP
41 11.38 KAT2B H2AC18 EP300
42 11.2 KAT2B H4C14 H4C13 H4C12 H4C11 H4C1

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

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 10.39 SRCAP MIR9-1 MECP2 KDM4C KAT6A KAT2B
2 nucleoplasm GO:0005654 10.28 SRCAP MECP2 KDM4C KAT6A KAT2B H4C14
3 extracellular exosome GO:0070062 10.13 MIR9-1 H4C14 H4C13 H4C12 H4C11 H4C1
4 protein-containing complex GO:0032991 10.02 SRCAP KAT2B H4C14 H4C13 H4C12 H4C11
5 chromosome GO:0005694 9.85 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
6 nuclear chromosome, telomeric region GO:0000784 9.8 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
7 nuclear chromosome GO:0000228 9.73 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
8 histone acetyltransferase complex GO:0000123 9.63 KAT6A EP300 CREBBP
9 nuclear nucleosome GO:0000788 9.43 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
10 nucleosome GO:0000786 9.28 KAT6A H4C14 H4C13 H4C12 H4C11 H4C1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.08 MECP2 KAT6A KAT2B EP300 CREBBP CREB1
2 cellular protein metabolic process GO:0044267 10.05 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
3 viral process GO:0016032 10.03 SRCAP KAT2B EP300 CREBBP CREB1
4 regulation of gene silencing by miRNA GO:0060964 10.02 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
5 double-strand break repair via nonhomologous end joining GO:0006303 10.01 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
6 histone acetylation GO:0016573 10 SRCAP MECP2 KAT6A KAT2B EP300 CREBBP
7 negative regulation of gene expression, epigenetic GO:0045814 9.99 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
8 protein heterotetramerization GO:0051290 9.97 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
9 CENP-A containing nucleosome assembly GO:0034080 9.95 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
10 DNA-templated transcription, initiation GO:0006352 9.93 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
11 response to hypoxia GO:0001666 9.91 MECP2 EP300 CREBBP CREB1
12 chromatin silencing at rDNA GO:0000183 9.91 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
13 rhythmic process GO:0048511 9.89 KAT2B EP300 CREBBP CREB1
14 DNA replication-dependent nucleosome assembly GO:0006335 9.88 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
15 protein acetylation GO:0006473 9.86 KAT6A KAT2B EP300 CREBBP
16 telomere capping GO:0016233 9.85 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
17 chromatin remodeling GO:0006338 9.81 SRCAP KDM4C KAT2B
18 telomere organization GO:0032200 9.8 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
19 positive regulation of Notch signaling pathway GO:0045747 9.79 KAT2B EP300 CREBBP
20 positive regulation of transcription of Notch receptor target GO:0007221 9.76 KAT2B EP300 CREBBP
21 nucleosome assembly GO:0006334 9.76 KAT6A H4C14 H4C13 H4C12 H4C11 H4C1
22 N-terminal peptidyl-lysine acetylation GO:0018076 9.74 KAT2B EP300 CREBBP
23 DNA replication-independent nucleosome assembly GO:0006336 9.73 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
24 peptidyl-lysine acetylation GO:0018394 9.62 KAT2B EP300
25 internal peptidyl-lysine acetylation GO:0018393 9.62 KAT2B EP300
26 negative regulation of megakaryocyte differentiation GO:0045653 9.43 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
27 regulation of megakaryocyte differentiation GO:0045652 9.23 KAT2B H4C14 H4C13 H4C12 H4C11 H4C1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.85 MECP2 KAT6A KAT2B EP300 CREBBP CREB1
2 transcription coactivator activity GO:0003713 9.83 SRCAP KAT6A KAT2B EP300 CREBBP
3 protein domain specific binding GO:0019904 9.8 MECP2 H4C14 H4C13 H4C12 H4C11 H4C1
4 transferase activity, transferring acyl groups GO:0016746 9.78 KAT6A KAT2B EP300 CREBBP
5 transcription coregulator activity GO:0003712 9.71 KAT2B EP300 CREBBP CREB1
6 RNA polymerase II activating transcription factor binding GO:0001102 9.69 EP300 CREBBP CREB1
7 acetyltransferase activity GO:0016407 9.62 KAT6A KAT2B EP300 CREBBP
8 protein heterodimerization activity GO:0046982 9.61 H4C14 H4C13 H4C12 H4C11 H4C1 H4-16
9 histone acetyltransferase activity GO:0004402 9.55 SRCAP KAT6A KAT2B EP300 CREBBP
10 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor GO:0004468 9.49 KAT2B EP300
11 DNA binding GO:0003677 9.47 SRCAP MECP2 KAT6A H4C14 H4C13 H4C12
12 peptide-lysine-N-acetyltransferase activity GO:0061733 9.46 KAT2B EP300

Sources for Chromosome 16p13.3 Deletion Syndrome, Proximal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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