MCID: CHR593
MIFTS: 60

Chromosome 16p13.3 Deletion Syndrome, Proximal

Categories: Rare diseases, Mental diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Genetic 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 53 28 69
Rubinstein-Taybi Syndrome 12 72 23 49 24 55 36 28 13 51 41 14 69
Chromosome 16p13.3 Deletion Syndrome 53 49 13 69
Broad Thumb-Hallux Syndrome 12 49 24 55
Rubinstein Syndrome 12 49
Rsts 49 24
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 49
Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion 55
Proximal Chromosome 16p13.3 Deletion Syndrome 12
Rubinstein-Taybi Deletion Syndrome 53
Broad Thumbs-Halluces Syndrome 55
Broad Thumbs-Hallux Syndrome 23
16p13.3 Deletion Syndrome 49
Rsts Deletion Syndrome 53
Rts 24

Characteristics:

Orphanet epidemiological data:

55
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:
Mortality/Aging death in infancy
Inheritance somatic mosaicism autosomal dominant contiguous gene syndrome


Classifications:



Summaries for Chromosome 16p13.3 Deletion Syndrome, Proximal

NIH Rare Diseases : 49 Chromosome 16p13.3 deletionsyndrome 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. Last updated: 2/8/2016

MalaCards based summary : Chromosome 16p13.3 Deletion Syndrome, Proximal, also known as rubinstein-taybi syndrome, is related to rubinstein-taybi syndrome 1 and floating-harbor syndrome, and has symptoms including constipation, seizures and hypertelorism. An important gene associated with Chromosome 16p13.3 Deletion Syndrome, Proximal is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are Phospholipase-C Pathway and HTLV-I infection. The drugs Valproic Acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye, and related phenotypes are embryo and craniofacial

Disease Ontology : 12 An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.

Genetics Home Reference : 24 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.

Description from OMIM: 610543
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 104)
# Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 1 34.6 CREBBP EP300
2 floating-harbor syndrome 32.2 CREBBP SRCAP
3 alacrima, achalasia, and mental retardation syndrome 29.2 KAT6A MECP2 VPS13B
4 rubinstein-taybi syndrome 2 12.7
5 rothmund-thomson syndrome 11.9
6 pilomatrixoma 11.6
7 coffin-lowry syndrome 11.3
8 atypical teratoid rhabdoid tumor 11.3
9 rhabdoid tumor predisposition syndrome 1 11.2
10 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.2
11 rapadilino syndrome 11.2
12 rhabdoid cancer 11.2
13 rett syndrome 11.1
14 dengue disease 10.9
15 congenital toxoplasmosis 10.9
16 keloids 10.5
17 cervicitis 10.3
18 coloboma of macula 10.2
19 scoliosis 10.2
20 human t-cell leukemia virus type 2 10.2 CREB1 CREBBP EP300
21 human t-cell leukemia virus type 1 10.2 CREB1 CREBBP EP300
22 apnea, obstructive sleep 10.2
23 medulloblastoma 10.2
24 neuroblastoma 10.2
25 aging 10.2
26 meningioma, familial 10.2
27 congenital hypothyroidism 10.2
28 sleep apnea 10.2
29 hypothyroidism 10.2
30 thyroiditis 10.2
31 chiari malformation 10.2
32 slipped capital femoral epiphysis 10.2
33 epiphysiolysis of the hip 10.2
34 acute myeloid leukemia with t(8;16)(p11;p13) translocation 10.1 CREBBP KAT6A
35 neonatal leukemia 10.0 CREBBP EP300 KAT6A
36 anterior segment dysgenesis 1 10.0
37 gastroesophageal reflux 10.0
38 cleft palate, isolated 10.0
39 hirschsprung disease 1 10.0
40 myositis 10.0
41 pheochromocytoma 10.0
42 retinal detachment 10.0
43 spondylolisthesis 10.0
44 anus, imperforate 10.0
45 autism 10.0
46 familial mediterranean fever 10.0
47 popliteal pterygium syndrome, lethal type 10.0
48 smith-lemli-opitz syndrome 10.0
49 opitz gbbb syndrome, type i 10.0
50 ayme-gripp syndrome 10.0

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

Clinical features from OMIM:

610543

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

55 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
5 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
6 high palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000218
7 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
8 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
9 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
10 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
11 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
12 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
13 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
14 carious teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000670
15 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
16 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
17 broad hallux phalanx 55 31 hallmark (90%) Very frequent (99-80%) HP:0010059
18 broad thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0011304
19 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
20 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
21 irritability 55 31 frequent (33%) Frequent (79-30%) HP:0000737
22 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
23 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
24 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
25 generalized hirsutism 55 31 frequent (33%) Frequent (79-30%) HP:0002230
26 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
27 attention deficit hyperactivity disorder 55 31 frequent (33%) Frequent (79-30%) HP:0007018
28 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
29 failure to thrive in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001531
30 telecanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000506
31 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
32 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
33 capillary hemangiomas 55 31 occasional (7.5%) Occasional (29-5%) HP:0005306
34 downslanted palpebral fissures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000494
35 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
36 polyhydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001561
37 convex nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000444
38 nasolacrimal duct obstruction 55 31 frequent (33%) Frequent (79-30%) HP:0000579
39 highly arched eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0002553
40 abnormality of the distal phalanx of finger 55 31 frequent (33%) Frequent (79-30%) HP:0009832
41 keloids 55 31 occasional (7.5%) Occasional (29-5%) HP:0010562
42 clubbing of toes 55 31 frequent (33%) Frequent (79-30%) HP:0100760
43 obesity 31 HP:0001513
44 muscular hypotonia 31 HP:0001252
45 failure to thrive 31 HP:0001508
46 sleep disturbance 31 HP:0002360
47 scoliosis 31 HP:0002650
48 abnormality of the dentition 55 Frequent (79-30%)
49 abnormal facial shape 31 HP:0001999
50 malformation of the heart and great vessels 55 Frequent (79-30%)

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


seizures, constipation

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.91 EP300 GAS1 KAT6A LRP4 MECP2 MID1
2 craniofacial MP:0005382 9.87 ADCY9 CREBBP EP300 GAS1 KAT6A LRP4
3 nervous system MP:0003631 9.81 ADCY9 CREB1 CREBBP EP300 GAS1 KAT6A
4 normal MP:0002873 9.5 ADCY9 CREB1 CREBBP EP300 KAT6A MECP2
5 respiratory system MP:0005388 9.17 ADCY9 CREB1 CREBBP EP300 GAS1 LRP4

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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
2 Anticonvulsants Phase 2
3 Antimanic Agents Phase 2
4 Central Nervous System Depressants Phase 2
5 GABA Agents Phase 2
6 Histone Deacetylase Inhibitors Phase 2
7 Neurotransmitter Agents Phase 2
8 Psychotropic Drugs Phase 2
9 Tranquilizing Agents Phase 2

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 Resistant Starch on Glycemic Response in Older Adults Completed NCT00676767 Not Applicable

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 Rubinstein-Taybi Syndrome 28 CREBBP EP300
2 Chromosome 16p13.3 Deletion Syndrome, Proximal 28

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

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

38
Heart, Kidney, Eye, Brain, Testes, Skin, Bone

Publications for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

(show top 50) (show all 340)
# Title Authors Year
1
Rubinstein-Taybi Syndrome and Epigenetic Alterations. ( 28523540 )
2017
2
Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report. ( 28503387 )
2017
3
The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein-Taybi Syndrome. ( 28395077 )
2017
4
Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent. ( 27065842 )
2016
5
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. ( 26788536 )
2016
6
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. ( 27011324 )
2016
7
Electroclinical phenotype in Rubinstein-Taybi syndrome. ( 26867510 )
2016
8
One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome. ( 27322716 )
2016
9
Rubinstein Taybi Syndrome with Psychosis. ( 27567660 )
2016
10
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. ( 27311832 )
2016
11
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence. ( 27581590 )
2016
12
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. ( 27342041 )
2016
13
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. ( 27648933 )
2016
14
Anaesthetic Management of Children with Rubinstein-Taybi Syndrome. ( 27366579 )
2016
15
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. ( 26603346 )
2016
16
Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome. ( 27062171 )
2016
17
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. ( 27465822 )
2016
18
Rubinstein-Taybi syndrome - a window into follicular lymphoma biology. ( 27086936 )
2016
19
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. ( 27825976 )
2016
20
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. ( 27964710 )
2016
21
Hysterectomy due to Abnormal Uterine Bleeding in a 15-year Old Girl with Rubinstein-Taybi Syndrome. ( 27924288 )
2016
22
Keloids: an unwanted spontaneity in rubinstein-taybi syndrome. ( 25814745 )
2015
23
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome. ( 26275701 )
2015
24
Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review. ( 25675181 )
2015
25
Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome. ( 26085772 )
2015
26
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report. ( 25596810 )
2015
27
Repetitive behavior in rubinstein-taybi syndrome: parallels with autism spectrum phenomenology. ( 25491025 )
2015
28
Rubinstein-Taybi Syndrome in a 19-years old boy. ( 26707040 )
2015
29
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report. ( 26485669 )
2015
30
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. ( 27617129 )
2015
31
Rubinstein-Taybi Syndrome. ( 26143027 )
2015
32
Rubinstein-Taybi syndrome with agenesis of corpus callosum. ( 26167229 )
2015
33
Rubinstein-Taybi syndrome associated with humoral immunodeficiency. ( 25997309 )
2015
34
Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome. ( 25861312 )
2015
35
Pilomatricomas in Rubinstein-Taybi syndrome. ( 25721637 )
2015
36
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. ( 25805166 )
2015
37
Antibody deficiency in Rubinstein-Taybi syndrome. ( 26307339 )
2015
38
Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome. ( 26229571 )
2015
39
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. ( 26279656 )
2015
40
Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation. ( 25768348 )
2015
41
Intestinal malrotation in Rubinstein-Taybi syndrome. ( 26097216 )
2015
42
A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood. ( 25683362 )
2015
43
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. ( 25712426 )
2015
44
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation. ( 26374735 )
2015
45
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. ( 25599811 )
2015
46
Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: The spectrum of brain MRI abnormalities. ( 25108505 )
2014
47
Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome. ( 24637986 )
2014
48
Oro-facio-dental findings of rubinstein-taybi syndrome as a useful diagnostic feature. ( 24596795 )
2014
49
Ocular anomalies in Rubinstein-Taybi syndrome: a further case report and review of the literature. ( 25075451 )
2014
50
Growth charts for individuals with Rubinstein-Taybi syndrome. ( 24989455 )
2014

Variations for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

6 (show top 50) (show all 73)
# Gene Variation Type Significance SNP ID Assembly Location
1 CREBBP NM_004380.2(CREBBP): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434624 GRCh37 Chromosome 16, 3900690: 3900690
2 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh37 Chromosome 16, 3843534: 3843534
3 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh37 Chromosome 16, 3790400: 3790400
4 CREBBP CREBBP, 2-BP DEL, NT5222 deletion Pathogenic
5 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh37 Chromosome 16, 3807895: 3807895
6 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh37 Chromosome 16, 3799632: 3799632
7 CREBBP CREBBP, IVS21, A-T, -2 single nucleotide variant Pathogenic
8 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh37 Chromosome 16, 3794894: 3794894
9 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh37 Chromosome 16, 3778960: 3778960
10 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh37 Chromosome 16, 3779179: 3779179
11 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh37 Chromosome 16, 3779204: 3779214
12 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh37 Chromosome 16, 3779211: 3779211
13 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh37 Chromosome 16, 3779227: 3779227
14 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh37 Chromosome 16, 3781875: 3781875
15 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh37 Chromosome 16, 3786076: 3786076
16 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh37 Chromosome 16, 3786703: 3786703
17 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh37 Chromosome 16, 3786767: 3786767
18 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh37 Chromosome 16, 3786813: 3786813
19 CREBBP NM_004380.2(CREBBP): c.4133+1G> A single nucleotide variant Pathogenic rs587783491 GRCh37 Chromosome 16, 3790399: 3790399
20 CREBBP NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter) single nucleotide variant Pathogenic rs587783490 GRCh37 Chromosome 16, 3790455: 3790455
21 CREBBP NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter) single nucleotide variant Pathogenic rs587783489 GRCh37 Chromosome 16, 3790488: 3790488
22 CREBBP NM_004380.2(CREBBP): c.3983-2A> G single nucleotide variant Pathogenic rs587783486 GRCh37 Chromosome 16, 3790552: 3790552
23 CREBBP NM_004380.2(CREBBP): c.3836+1G> A single nucleotide variant Pathogenic rs200782888 GRCh37 Chromosome 16, 3799627: 3799627
24 CREBBP NM_004380.2(CREBBP): c.3779+1G> A single nucleotide variant Pathogenic rs587783483 GRCh37 Chromosome 16, 3801726: 3801726
25 CREBBP NM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter) single nucleotide variant Pathogenic rs587783482 GRCh37 Chromosome 16, 3807374: 3807374
26 CREBBP NM_004380.2(CREBBP): c.3369+1G> T single nucleotide variant Pathogenic rs587783480 GRCh37 Chromosome 16, 3808854: 3808854
27 CREBBP NM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter) single nucleotide variant Pathogenic rs587783479 GRCh37 Chromosome 16, 3808914: 3808914
28 CREBBP NM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter) single nucleotide variant Pathogenic rs587783475 GRCh37 Chromosome 16, 3820660: 3820660
29 CREBBP NM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs) deletion Pathogenic rs587783473 GRCh37 Chromosome 16, 3820844: 3820845
30 CREBBP NM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter) single nucleotide variant Pathogenic rs587783471 GRCh37 Chromosome 16, 3820916: 3820916
31 CREBBP NM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs) deletion Pathogenic rs587783470 GRCh37 Chromosome 16, 3827649: 3827650
32 CREBBP NM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs) deletion Pathogenic rs587783469 GRCh37 Chromosome 16, 3828099: 3828099
33 CREBBP NM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs) deletion Pathogenic rs587783467 GRCh37 Chromosome 16, 3830735: 3830735
34 CREBBP NM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs) deletion Pathogenic rs587783465 GRCh37 Chromosome 16, 3831291: 3831291
35 CREBBP NM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs587783464 GRCh37 Chromosome 16, 3842042: 3842042
36 CREBBP NM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter) single nucleotide variant Pathogenic rs587783463 GRCh37 Chromosome 16, 3842055: 3842055
37 CREBBP NM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic rs587783461 GRCh37 Chromosome 16, 3843447: 3843447
38 CREBBP NM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs587783460 GRCh37 Chromosome 16, 3843540: 3843540
39 CREBBP NM_004380.2(CREBBP): c.953C> A (p.Ser318Ter) single nucleotide variant Pathogenic rs587783516 GRCh37 Chromosome 16, 3860626: 3860626
40 CREBBP NM_004380.2(CREBBP): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783509 GRCh37 Chromosome 16, 3900498: 3900498
41 CREBBP NM_004380.2(CREBBP): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs587783478 GRCh37 Chromosome 16, 3900780: 3900780
42 CREBBP NM_004380.2(CREBBP): c.299delG (p.Gly100Valfs) deletion Pathogenic rs587783477 GRCh37 Chromosome 16, 3900797: 3900797
43 CREBBP NM_004380.2(CREBBP): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs587783476 GRCh37 Chromosome 16, 3900810: 3900810
44 CREBBP NM_004380.2(CREBBP): c.86-2A> C single nucleotide variant Pathogenic rs587783515 GRCh37 Chromosome 16, 3901012: 3901012
45 CREBBP NM_004380.2(CREBBP): c.2685delC (p.Gln897Argfs) deletion Pathogenic rs794727124 GRCh37 Chromosome 16, 3820766: 3820766
46 CREBBP NM_004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs) deletion Pathogenic rs794727391 GRCh38 Chromosome 16, 3740539: 3740539
47 CREBBP NM_004380.2(CREBBP): c.5614A> G (p.Met1872Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045037 GRCh37 Chromosome 16, 3779434: 3779434
48 CREBBP NM_004380.2(CREBBP): c.(?_-23)_85+?del deletion Pathogenic GRCh38 Chromosome 16, 3879832: 3879939
49 CREBBP NM_004380.2(CREBBP): c.6395_6417dup23 (p.Gln2140Alafs) duplication Pathogenic rs797045500 GRCh38 Chromosome 16, 3728630: 3728652
50 CREBBP NM_004380.2(CREBBP): c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs) deletion Pathogenic rs797045499 GRCh37 Chromosome 16, 3778932: 3778941

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

7 (show all 14)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13809 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
2 97337 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
3 97338 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
4 97343 16 1 6300000 Deletion CREB-binding Rubinstein-Taybi syndrome
5 97344 16 1 6300000 Deletion gene Rubinstein-Taybi syndrome
6 97345 16 1 6300000 Deletion protein Rubinstein-Taybi syndrome
7 97361 16 1 6300000 Microdeletion Rubinstein-Taybi syndrome
8 97362 16 1 6300000 Microdeletion Rubinstein-Taybi syndrome
9 101412 16 3651083 3771464 Microdeletion Crebbp Rubinstein-Taybi syndrome
10 101413 16 3651083 3771464 Microdeletion Trap1 Rubinstein-Taybi syndrome
11 101433 16 3715056 3870122 Copy number CREBBP Rubinstein-Taybi syndrome
12 101452 16 3726327 3728439 Deletion CREBBP Rubinstein-Taybi syndrome
13 164836 22 39892913 39898247 Deletion EP300 Rubinstein-Taybi syndrome
14 222428 7 15200000 19500000 Microdeletion Rubinstein-Taybi syndrome

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 ADCY9 CREB1 CREBBP EP300 GAS1
2 12.18 ADCY9 CREB1 CREBBP EP300
3
Show member pathways
12.1 ADCY9 CREB1 CREBBP EP300
4
Show member pathways
11.97 CREB1 CREBBP EP300
5
Show member pathways
11.97 ADCY9 CREB1 CREBBP EP300
6 11.71 CREB1 CREBBP EP300
7 11.67 CREB1 CREBBP EP300 MECP2
8 11.65 CREB1 CREBBP EP300
9 11.58 CREB1 CREBBP EP300
10 11.52 CREB1 CREBBP EP300
11 11.39 CREB1 CREBBP EP300
12 11.23 CREB1 CREBBP EP300
13
Show member pathways
11.13 CREB1 CREBBP EP300
14 10.93 CREB1 CREBBP
15 10.9 CREBBP EP300
16 10.89 CREBBP EP300
17 10.74 CREBBP EP300 KAT6A SRCAP
18 10.7 CREBBP EP300 GAS1

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 histone acetyltransferase complex GO:0000123 8.62 CREBBP EP300

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

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.76 CREB1 CREBBP EP300 SRCAP
2 positive regulation of transcription, DNA-templated GO:0045893 9.72 CREB1 CREBBP EP300 KAT6A MECP2
3 rhythmic process GO:0048511 9.58 CREB1 CREBBP EP300
4 response to hypoxia GO:0001666 9.56 CREB1 CREBBP EP300 MECP2
5 regulation of smoothened signaling pathway GO:0008589 9.43 CREBBP GAS1
6 animal organ development GO:0048513 9.37 KAT6A LRP4
7 N-terminal peptidyl-lysine acetylation GO:0018076 9.16 CREBBP EP300
8 protein acetylation GO:0006473 9.13 CREBBP EP300 KAT6A
9 histone acetylation GO:0016573 9.02 CREBBP EP300 KAT6A MECP2 SRCAP

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 coactivator activity GO:0003713 9.71 CREBBP EP300 KAT6A SRCAP
2 transcription factor binding GO:0008134 9.65 CREB1 CREBBP EP300 KAT6A MECP2
3 transferase activity, transferring acyl groups GO:0016746 9.61 CREBBP EP300 KAT6A
4 transcription cofactor activity GO:0003712 9.54 CREB1 CREBBP EP300
5 RNA polymerase II activating transcription factor binding GO:0001102 9.5 CREB1 CREBBP EP300
6 peptide N-acetyltransferase activity GO:0034212 9.16 CREBBP EP300
7 acetyltransferase activity GO:0016407 9.13 CREBBP EP300 KAT6A
8 histone acetyltransferase activity GO:0004402 8.92 CREBBP EP300 KAT6A SRCAP

Sources for Chromosome 16p13.3 Deletion Syndrome, Proximal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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