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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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 29 72
Rubinstein-Taybi Syndrome 12 75 24 53 25 59 37 29 55 6 44 15 72
Broad Thumb-Hallux Syndrome 12 24 53 25 59
Chromosome 16p13.3 Deletion Syndrome 57 53 13 72
Rubinstein Syndrome 12 53
Rsts 53 25
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 53
Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion 59
Proximal Chromosome 16p13.3 Deletion Syndrome 12
Rubinstein-Taybi Deletion Syndrome 57
Broad Thumbs-Halluces Syndrome 59
Syndrome, Rubinstein-Taybi 40
16p13.3 Deletion Syndrome 53
Rsts Deletion Syndrome 57
Rts 25

Characteristics:

Orphanet epidemiological data:

59
rubinstein-taybi syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

HPO:

32
chromosome 16p13.3 deletion syndrome, proximal:
Clinical modifier death in infancy
Inheritance somatic mosaicism autosomal dominant contiguous gene syndrome


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Bone diseases Endocrine diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
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
KEGG 37 H00504
MeSH 44 D012415
NCIt 50 C75466
SNOMED-CT 68 45582004
ICD10 33 Q87.2
MESH via Orphanet 45 D012415
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 73 C0035934
MedGen 42 C1864648
UMLS 72 C0035934 C1864648 C3502510
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Summaries for Chromosome 16p13.3 Deletion Syndrome, Proximal

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NIH Rare Diseases : 53 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 Phospholipase-C Pathway and Development Ligand-independent activation of ESR1 and ESR2. The drugs Valproic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and brain, and related phenotypes are high palate and intellectual disability

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 : 37
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 : 75 Rubinstein-Taybi syndrome (RTS), is a condition characterized by short stature, moderate to severe... 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 1053)
# Related Disease Score Top Affiliating Genes
1 floating-harbor syndrome 33.0 SRCAP CREBBP
2 rubinstein-taybi syndrome 1 32.9 EP300 CREBBP
3 microcephaly 30.1 NIPBL EP300 CREBBP CKAP2L
4 human t-cell leukemia virus type 1 30.0 EP300 CREBBP CREB1
5 leukemia, acute monocytic 29.0 KAT6A EP300 CREBBP
6 rothmund-thomson syndrome 12.3
7 atypical teratoid rhabdoid tumor 12.1
8 pilomatrixoma 12.0
9 rhabdoid cancer 11.8
10 obsolete: atypical teratoid/rhabdoid tumor 11.6
11 coffin-lowry syndrome 11.6
12 rhabdoid tumor predisposition syndrome 1 11.5
13 dengue disease 11.5
14 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.5
15 rapadilino syndrome 11.5
16 rett syndrome 11.4
17 rubinstein-taybi syndrome 2 11.3
18 congenital toxoplasmosis 11.2
19 erythrokeratoderma 11.2
20 strabismus 10.6
21 mechanical strabismus 10.6
22 hypertelorism 10.6
23 cryptorchidism, unilateral or bilateral 10.6
24 patent ductus arteriosus 1 10.6
25 ptosis 10.6
26 human immunodeficiency virus type 1 10.6
27 gastroenteritis 10.6
28 coloboma of macula 10.5
29 diarrhea 10.5
30 avian influenza 10.5
31 mouth disease 10.5
32 dengue virus 10.5
33 breast cancer 10.5
34 myeloid leukemia 10.5
35 epicanthus 10.5
36 constipation 10.5
37 malaria 10.5
38 hepatitis c virus 10.4
39 hepatitis a 10.4
40 cytokine deficiency 10.4
41 refractive error 10.4
42 alopecia 10.4
43 keloid disorder 10.4
44 autism 10.4
45 aspiration pneumonia 10.4
46 microphthalmia 10.4
47 chiari malformation 10.4
48 dwarfism 10.4
49 lymphocytic leukemia 10.4
50 leukemia, acute myeloid 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:

59 32 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 Very frequent (99-80%) HP:0000218
2 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
3 seizures 59 32 Occasional (29-5%) HP:0001250
4 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
5 microcephaly 59 32 Frequent (79-30%) HP:0000252
6 broad thumb 59 32 Very frequent (99-80%) HP:0011304
7 feeding difficulties in infancy 59 32 Very frequent (99-80%) HP:0008872
8 micrognathia 59 32 Frequent (79-30%) HP:0000347
9 strabismus 59 32 Frequent (79-30%) HP:0000486
10 clinodactyly of the 5th finger 59 32 Frequent (79-30%) HP:0004209
11 downslanted palpebral fissures 59 32 Very frequent (99-80%) HP:0000494
12 convex nasal ridge 59 32 Very frequent (99-80%) HP:0000444
13 hypertelorism 59 Very frequent (99-80%)
14 low-set ears 59 Very frequent (99-80%)
15 obesity 32 HP:0001513
16 finger syndactyly 59 Occasional (29-5%)
17 ptosis 59 Occasional (29-5%)
18 muscular hypotonia 32 HP:0001252
19 failure to thrive 32 HP:0001508
20 constipation 59 Frequent (79-30%)
21 respiratory insufficiency 59 Frequent (79-30%)
22 sleep disturbance 32 HP:0002360
23 scoliosis 32 HP:0002650
24 hearing impairment 59 Occasional (29-5%)
25 hip dysplasia 59 Occasional (29-5%)
26 abnormality of the dentition 59 Frequent (79-30%)
27 wide nasal bridge 59 Frequent (79-30%)
28 carious teeth 59 Frequent (79-30%)
29 abnormal facial shape 32 HP:0001999
30 short stature 59 Very frequent (99-80%)
31 broad hallux phalanx 59 Very frequent (99-80%)
32 highly arched eyebrow 59 Frequent (79-30%)
33 irritability 59 Frequent (79-30%)
34 malformation of the heart and great vessels 59 Frequent (79-30%)
35 joint hyperflexibility 59 Very frequent (99-80%)
36 epicanthus 59 Frequent (79-30%)
37 generalized hirsutism 59 Frequent (79-30%)
38 cryptorchidism 59 Frequent (79-30%)
39 attention deficit hyperactivity disorder 59 Frequent (79-30%)
40 anxiety 59 Frequent (79-30%)
41 failure to thrive in infancy 59 Very frequent (99-80%)
42 myopia 32 HP:0000545
43 atypical scarring of skin 59 Occasional (29-5%)
44 hypoplastic left heart 32 HP:0004383
45 telecanthus 59 Very frequent (99-80%)
46 abnormality of the kidney 32 HP:0000077
47 glaucoma 59 Frequent (79-30%)
48 capillary hemangioma 59 Occasional (29-5%)
49 polyhydramnios 59 Occasional (29-5%)
50 brachydactyly 59 Very frequent (99-80%)

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased BBC3 mRNA expression GR00389-S-3 8.96 EP300 SRCAP
2 Decreased CDKN1A mRNA expression GR00389-S-1 8.62 EP300 SRCAP

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 ADCY9 ARID1B CREB1 CREBBP EP300 GAS1
2 craniofacial MP:0005382 9.63 ADCY9 CREBBP EP300 GAS1 KAT6A NIPBL
3 embryo MP:0005380 9.5 ADCY9 CREB1 CREBBP EP300 GAS1 KAT6A
4 nervous system MP:0003631 9.23 ADCY9 ARID1B CREB1 CREBBP EP300 GAS1
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 9)
# 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 Central Nervous System Depressants Phase 2
5 GABA Agents Phase 2
6 Antimanic Agents Phase 2
7 Histone Deacetylase Inhibitors Phase 2
8 Psychotropic Drugs Phase 2
9 Anticonvulsants Phase 2

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 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

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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 Chromosome 16p13.3 Deletion Syndrome, Proximal 29
2 Rubinstein-Taybi Syndrome 29
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Anatomical Context for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

41
Heart, Kidney, Brain, Testes, Eye, Bone, Skin
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 630)
# 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. 38 8 71
12114483 2002
2
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. 38 4 8
25805166 2015
3
Inheritance and variable expression in Rubinstein-Taybi syndrome. 38 4 71
20684013 2010
4
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. 38 4 8
17855048 2007
5
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. 38 4 8
17473832 2007
6
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 38 71
27465822 2016
7
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 38 71
24352918 2014
8
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. 38 71
20014264 2010
9
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. 38 71
19353645 2009
10
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. 38 71
17299436 2007
11
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 38 8
16783566 2006
12
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 38 71
15706485 2005
13
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 38 71
12566391 2003
14
Rubinstein-Taybi Syndrome 38 71
20301699 2002
15
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. 38 71
11331617 2001
16
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. 38 8
10573006 1999
17
Cardiac abnormalities in the Rubinstein-Taybi syndrome. 38 8
8599359 1995
18
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. 38 71
7630403 1995
19
Rubinstein-Taybi Syndrome with thymic hypoplasia. 38 8
8488874 1993
20
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. 38 4
30892814 2019
21
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. 38 4
30633342 2019
22
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. 38 4
29460469 2018
23
Benign and malignant tumors in Rubinstein-Taybi syndrome. 38 4
29359884 2018
24
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 38 4
27964710 2016
25
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 38 4
27648933 2016
26
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 38 4
27311832 2016
27
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. 38 4
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. 38 4
26486927 2016
29
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 38 4
25388907 2015
30
Intestinal malrotation in Rubinstein-Taybi syndrome. 38 4
26097216 2015
31
Repetitive behavior in Rubinstein-Taybi syndrome: parallels with autism spectrum phenomenology. 38 4
25491025 2015
32
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. 38 4
24476420 2015
33
Growth charts for individuals with Rubinstein-Taybi syndrome. 38 4
24989455 2014
34
Epigenetic mechanisms of Rubinstein-Taybi syndrome. 38 4
24381114 2014
35
Germline mosaicism in Rubinstein-Taybi syndrome. 38 4
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. 38 4
23432975 2013
37
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. 38 4
23063576 2013
38
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation. 38 4
23032921 2012
39
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 8
21792059 2011
40
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 8
21844811 2011
41
The Deciphering Developmental Disorders (DDD) study. 71
21679367 2011
42
Adults with Rubinstein-Taybi syndrome. 38 4
21671385 2011
43
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. 8
19786961 2011
44
Penetrance for copy number variants associated with schizophrenia. 8
20587603 2010
45
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. 38 4
19833603 2010
46
Psychiatric profile in rubinstein-taybi syndrome. A review and case report. 38 4
19940543 2010
47
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. 38 4
19533794 2009
48
Population analysis of large copy number variants and hotspots of human genetic disease. 8
19166990 2009
49
Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 38 4
18792986 2008
50
Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype. 38 4
18688873 2008
Sources

Variations for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

6 (show all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CREBBP NC_000016.9: g.(?_3817701)_(3817930_?)dup duplication Pathogenic 16:3817701-3817930 16:3767700-3767929
2 CREBBP NM_001079846.1(CREBBP): c.5525_5526AG[1] (p.Leu1844fs) short repeat Pathogenic 16:3779406-3779407 16:3729405-3729406
3 CREBBP NM_001079846.1(CREBBP): c.5742dup (p.Pro1915fs) duplication Pathogenic 16:3779192-3779192 16:3729191-3729191
4 CREBBP NM_001079846.1(CREBBP): c.4558C> T (p.Gln1520Ter) single nucleotide variant Pathogenic 16:3786093-3786093 16:3736092-3736092
5 CREBBP NM_001079846.1(CREBBP): c.4445A> G (p.Lys1482Arg) single nucleotide variant Pathogenic 16:3786652-3786652 16:3736651-3736651
6 CREBBP NM_001079846.1(CREBBP): c.2641C> T (p.Gln881Ter) single nucleotide variant Pathogenic 16:3820696-3820696 16:3770695-3770695
7 CREBBP NM_001079846.1(CREBBP): c.2208del (p.Asn736fs) deletion Pathogenic 16:3823893-3823893 16:3773892-3773892
8 CREBBP NM_001079846.1(CREBBP): c.1891_1892delinsT (p.Lys630_Arg631insTer) indel Pathogenic 16:3828119-3828120 16:3778118-3778119
9 CREBBP NM_001079846.1(CREBBP): c.1741dup (p.Ala581fs) duplication Pathogenic 16:3828787-3828787 16:3778786-3778786
10 CREBBP NM_001079846.1(CREBBP): c.314_315del (p.Gly105fs) deletion Pathogenic 16:3900781-3900782 16:3850781-3850782
11 subset of 29 genes:CREBBP NC_000016.9: g.(?_3777699)_(4852592_?)del deletion Pathogenic 16:3777699-4852592 16:3727698-4802591
12 CREBBP NC_000016.9: g.(?_3830713)_(3831327_?)del deletion Pathogenic 16:3830713-3831327 16:3780712-3781326
13 CREBBP NM_001079846.1(CREBBP): c.3255+1G> A single nucleotide variant Likely pathogenic 16:3808854-3808854 16:3758853-3758853
14 CREBBP NM_001079846.1(CREBBP): c.4351C> G (p.Pro1451Ala) single nucleotide variant Uncertain significance 16:3786746-3786746 16:3736745-3736745
15 EP300 NM_001429.4(EP300): c.363G> C (p.Met121Ile) single nucleotide variant Uncertain significance 22:41513459-41513459 22:41117455-41117455
16 CREBBP NM_001079846.1(CREBBP): c.6270_6287del (p.Gln2090_Met2095del) deletion Uncertain significance 16:3778647-3778664 16:3728654-3728671
17 CREBBP NM_001079846.1(CREBBP): c.6944_6964del (p.Arg2315_Pro2321del) deletion Uncertain significance 16:3777970-3777990 16:3727969-3727989
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.
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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 25)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 64
Show member pathways
 12.81 GAS1 EP300 CREBBP CREB1 ADCY9
2
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.11 EP300 CREBBP CREB1
3
Viral carcinogenesis 37
12.08 EP300 CREBBP CREB1
4
Human T-cell leukemia virus 1 infection 37
12.07 EP300 CREBBP CREB1 ADCY9
5
Tuberculosis 37
12.02 EP300 CREBBP CREB1
6
BMAL1-CLOCK,NPAS2 activates circadian gene expression 66
Show member pathways
 12.01 EP300 CREBBP CREB1
7
Long-term potentiation 37
Show member pathways
 11.97 EP300 CREBBP CREB1
8
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.95 EP300 CREBBP CREB1
9
cAMP signaling pathway 37
11.89 EP300 CREBBP CREB1 ADCY9
10
Glucagon signaling pathway 37
11.71 EP300 CREBBP CREB1
11
Androgen receptor signaling pathway 1
11.63 EP300 CREBBP CREB1
12
Glucocorticoid receptor regulatory network 1
11.57 EP300 CREBBP CREB1
13
Regulation of nuclear SMAD2/3 signaling 1
11.52 EP300 CREBBP CREB1
14
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11.43 EP300 CREBBP ARID1B
15
HIF-1-alpha transcription factor network 1
11.36 EP300 CREBBP CREB1
16
HIF1Alpha Pathway 64
11.23 EP300 CREBBP CREB1
17
Initiation of transcription and translation elongation at the HIV-1 LTR 1
11.19 EP300 CREBBP
18
HIF Repressor Pathways 65
Show member pathways
 11.17 EP300 CREBBP
19
HIF-2-alpha transcription factor network 1
11.14 EP300 CREBBP
20
Cellular Transformation by HTLV1 64
Show member pathways
 11.03 EP300 CREBBP CREB1
21
Transcription_CREM signaling in testis 22
10.92 CREBBP CREB1
22
Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex 1
10.89 EP300 CREBBP
23
CD209 (DC-SIGN) signaling 66
10.88 EP300 CREBBP
24
Pathways Affected in Adenoid Cystic Carcinoma 1
10.74 SRCAP KAT6A EP300 CREBBP
25
FOXM1 transcription factor network 1
10.7 GAS1 EP300 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 nucleoplasm GO:0005654 9.76 XRN2 SRCAP NIPBL KAT6A EP300 CREBBP
2 nuclear chromatin GO:0000790 9.26 NIPBL KAT6A CREBBP CREB1
3 histone acetyltransferase complex GO:0000123 8.8 KAT6A EP300 CREBBP

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 NIPBL KAT6A EP300 CREBBP CREB1
2 viral process GO:0016032 9.67 SRCAP EP300 CREBBP CREB1
3 response to hypoxia GO:0001666 9.61 EP300 CREBBP CREB1
4 positive regulation of multicellular organism growth GO:0040018 9.55 NIPBL CREB1
5 positive regulation of type I interferon production GO:0032481 9.54 EP300 CREBBP
6 histone H4 acetylation GO:0043967 9.52 KAT6A EP300
7 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.51 EP300 CREBBP
8 developmental growth GO:0048589 9.49 NIPBL GAS1
9 beta-catenin-TCF complex assembly GO:1904837 9.48 EP300 CREBBP
10 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.46 EP300 CREBBP
11 rhythmic process GO:0048511 9.43 EP300 CREBBP CREB1
12 regulation of smoothened signaling pathway GO:0008589 9.4 GAS1 CREBBP
13 positive regulation of transcription of Notch receptor target GO:0007221 9.32 EP300 CREBBP
14 N-terminal peptidyl-lysine acetylation GO:0018076 9.16 EP300 CREBBP
15 protein acetylation GO:0006473 9.13 KAT6A EP300 CREBBP
16 histone acetylation GO:0016573 8.92 SRCAP KAT6A EP300 CREBBP

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.67 KAT6A EP300 CREBBP CREB1
2 transferase activity, transferring acyl groups GO:0016746 9.58 KAT6A EP300 CREBBP
3 transcription coactivator activity GO:0003713 9.55 SRCAP KAT6A EP300 CREBBP ARID1B
4 transcription coregulator activity GO:0003712 9.5 EP300 CREBBP CREB1
5 RNA polymerase II activating transcription factor binding GO:0001102 9.43 EP300 CREBBP CREB1
6 acetyltransferase activity GO:0016407 9.13 KAT6A EP300 CREBBP
7 histone acetyltransferase activity GO:0004402 8.92 SRCAP KAT6A EP300 CREBBP
Sources

Sources for Chromosome 16p13.3 Deletion Syndrome, Proximal

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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