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MCID: CHR593
MIFTS: 64

Chromosome 16p13.3 Deletion Syndrome, Proximal

Categories: Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Mental 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 73
Rubinstein-Taybi Syndrome 12 76 24 53 25 59 37 29 13 55 6 44 15 73
Chromosome 16p13.3 Deletion Syndrome 57 53 13 73
Broad Thumb-Hallux Syndrome 12 53 25 59
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
Broad Thumbs-Hallux Syndrome 24
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:
Mortality/Aging death in infancy
Inheritance somatic mosaicism autosomal dominant contiguous gene syndrome


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic 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


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Summaries for Chromosome 16p13.3 Deletion Syndrome, Proximal

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NIH Rare Diseases : 53 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.

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 and seizures. 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 hypertelorism and low-set ears

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 : 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.

Wikipedia : 76 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a... more...

Description from OMIM: 610543
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 108)
# Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 1 34.7 CREBBP EP300
2 floating-harbor syndrome 32.2 CREBBP SRCAP
3 alacrima, achalasia, and mental retardation syndrome 28.6 KAT6A MECP2 VPS13B
4 rubinstein-taybi syndrome 2 12.8
5 rothmund-thomson syndrome 11.9
6 atypical teratoid rhabdoid tumor 11.8
7 pilomatrixoma 11.6
8 rhabdoid cancer 11.5
9 coffin-lowry syndrome 11.3
10 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.2
11 rapadilino syndrome 11.2
12 rett syndrome 11.1
13 rhabdoid tumor predisposition syndrome 1 10.9
14 dengue disease 10.9
15 congenital toxoplasmosis 10.9
16 keloids 10.5
17 cervicitis 10.3
18 human t-cell leukemia virus type 2 10.3 CREB1 CREBBP EP300
19 human t-cell leukemia virus type 1 10.2 CREB1 CREBBP EP300
20 scoliosis 10.2
21 apnea, obstructive sleep 10.1
22 medulloblastoma 10.1
23 neuroblastoma 10.1
24 aging 10.1
25 congenital hypothyroidism 10.1
26 sleep apnea 10.1
27 juvenile glaucoma 10.1
28 hypothyroidism 10.1
29 thyroiditis 10.1
30 chiari malformation 10.1
31 neonatal hypothyroidism 10.1
32 slipped capital femoral epiphysis 10.1
33 acute myeloid leukemia with t(8;16)(p11;p13) translocation 10.1 CREBBP KAT6A
34 neonatal leukemia 10.0 CREBBP EP300 KAT6A
35 anterior segment dysgenesis 1 10.0
36 gastroesophageal reflux 10.0
37 cleft palate, isolated 10.0
38 hirschsprung disease 1 10.0
39 myositis 10.0
40 nevus, epidermal 10.0
41 pheochromocytoma 10.0
42 retinal detachment 10.0
43 spondylolisthesis 10.0
44 anus, imperforate 10.0
45 chiari malformation type ii 10.0
46 autism 10.0
47 glaucoma 3, primary congenital, a 10.0
48 familial mediterranean fever 10.0
49 smith-lemli-opitz syndrome 10.0
50 opitz gbbb syndrome, type i 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
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Symptoms & Phenotypes for Chromosome 16p13.3 Deletion Syndrome, Proximal

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Clinical features from OMIM:

610543

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

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
4 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
5 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
9 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
10 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
13 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
14 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
15 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
16 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
17 broad hallux phalanx 59 32 hallmark (90%) Very frequent (99-80%) HP:0010059
18 broad thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0011304
19 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
20 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
21 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
22 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
23 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
24 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
25 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
26 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
27 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
28 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
29 failure to thrive in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001531
30 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
31 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
32 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
33 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
34 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
35 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
36 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
37 nasolacrimal duct obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0000579
38 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
39 abnormality of the distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009832
40 keloids 59 32 occasional (7.5%) Occasional (29-5%) HP:0010562
41 clubbing of toes 59 32 frequent (33%) Frequent (79-30%) HP:0100760
42 obesity 32 HP:0001513
43 muscular hypotonia 32 HP:0001252
44 failure to thrive 32 HP:0001508
45 sleep disturbance 32 HP:0002360
46 scoliosis 32 HP:0002650
47 abnormality of the dentition 59 Frequent (79-30%)
48 abnormal facial shape 32 HP:0001999
49 malformation of the heart and great vessels 59 Frequent (79-30%)
50 myopia 32 HP:0000545

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:

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 embryo MP:0005380 9.97 ADCY9 CREB1 CREBBP EP300 GAS1 KAT6A
2 craniofacial MP:0005382 9.91 KAT6A LRP4 MECP2 ADCY9 CREBBP EP300
3 nervous system MP:0003631 9.91 ADCY9 CREB1 CREBBP EP300 GAS1 KAT6A
4 normal MP:0002873 9.7 ADCY9 CREB1 CREBBP EP300 KAT6A MECP2
5 respiratory system MP:0005388 9.5 ADCY9 CREB1 CREBBP EP300 GAS1 LRP4
6 skeleton MP:0005390 9.17 CREBBP GAS1 KAT6A LRP4 MECP2 ADCY9
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 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

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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 29 CREBBP EP300
2 Chromosome 16p13.3 Deletion Syndrome, Proximal 29
Sources

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, Eye, Brain, Testes, 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 342)
# Title Authors Year
1
Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome. ( 29469775 )
2018
2
The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein-Taybi Syndrome. ( 28395077 )
2017
3
Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report. ( 28503387 )
2017
4
Rubinstein-Taybi Syndrome and Epigenetic Alterations. ( 28523540 )
2017
5
Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome. ( 27062171 )
2016
6
Hysterectomy due to Abnormal Uterine Bleeding in a 15-year Old Girl with Rubinstein-Taybi Syndrome. ( 27924288 )
2016
7
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. ( 27342041 )
2016
8
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. ( 27964710 )
2016
9
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. ( 27465822 )
2016
10
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence. ( 27581590 )
2016
11
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. ( 26788536 )
2016
12
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. ( 27825976 )
2016
13
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
14
One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome. ( 27322716 )
2016
15
Anaesthetic Management of Children with Rubinstein-Taybi Syndrome. ( 27366579 )
2016
16
Rubinstein-Taybi syndrome - a window into follicular lymphoma biology. ( 27086936 )
2016
17
Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent. ( 27065842 )
2016
18
Rubinstein Taybi Syndrome with Psychosis. ( 27567660 )
2016
19
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. ( 27311832 )
2016
20
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. ( 27648933 )
2016
21
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. ( 27011324 )
2016
22
Electroclinical phenotype in Rubinstein-Taybi syndrome. ( 26867510 )
2016
23
Antibody deficiency in Rubinstein-Taybi syndrome. ( 26307339 )
2015
24
A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood. ( 25683362 )
2015
25
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
26
Intestinal malrotation in Rubinstein-Taybi syndrome. ( 26097216 )
2015
27
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. ( 25805166 )
2015
28
Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review. ( 25675181 )
2015
29
Rubinstein-Taybi syndrome with agenesis of corpus callosum. ( 26167229 )
2015
30
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome. ( 26275701 )
2015
31
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. ( 25712426 )
2015
32
Rubinstein-Taybi syndrome associated with humoral immunodeficiency. ( 25997309 )
2015
33
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report. ( 26485669 )
2015
34
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation. ( 26374735 )
2015
35
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. ( 27617129 )
2015
36
Rubinstein-Taybi Syndrome. ( 26143027 )
2015
37
Pilomatricomas in Rubinstein-Taybi syndrome. ( 25721637 )
2015
38
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. ( 25599811 )
2015
39
Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome. ( 26229571 )
2015
40
Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome. ( 25861312 )
2015
41
Repetitive behavior in rubinstein-taybi syndrome: parallels with autism spectrum phenomenology. ( 25491025 )
2015
42
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report. ( 25596810 )
2015
43
Keloids: an unwanted spontaneity in rubinstein-taybi syndrome. ( 25814745 )
2015
44
Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome. ( 26085772 )
2015
45
Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation. ( 25768348 )
2015
46
Rubinstein-Taybi Syndrome in a 19-years old boy. ( 26707040 )
2015
47
Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report. ( 25073882 )
2014
48
Patellofemoral ligament reconstruction in a patient with Rubinstein-Taybi syndrome. ( 24901727 )
2014
49
Epigenetic factors in intellectual disability: the Rubinstein-Taybi syndrome as a paradigm of neurodevelopmental disorder with epigenetic origin. ( 25410544 )
2014
50
Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: The spectrum of brain MRI abnormalities. ( 25108505 )
2014
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 top 50) (show all 510)
# 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.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434624 GRCh38 Chromosome 16, 3850689: 3850689
3 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh37 Chromosome 16, 3843534: 3843534
4 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh38 Chromosome 16, 3793533: 3793533
5 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh37 Chromosome 16, 3790400: 3790400
6 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh38 Chromosome 16, 3740399: 3740399
7 CREBBP CREBBP, 2-BP DEL, NT5222 deletion Pathogenic
8 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh37 Chromosome 16, 3807895: 3807895
9 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh38 Chromosome 16, 3757894: 3757894
10 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh37 Chromosome 16, 3799632: 3799632
11 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh38 Chromosome 16, 3749631: 3749631
12 CREBBP CREBBP, IVS21, A-T, -2 single nucleotide variant Pathogenic
13 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh37 Chromosome 16, 3794894: 3794894
14 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh38 Chromosome 16, 3744893: 3744893
15 CREBBP NM_004380.2(CREBBP): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs587783512 GRCh37 Chromosome 16, 3778599: 3778599
16 CREBBP NM_004380.2(CREBBP): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs587783512 GRCh38 Chromosome 16, 3728598: 3728598
17 CREBBP NM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh37 Chromosome 16, 3778877: 3778918
18 CREBBP NM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh38 Chromosome 16, 3728876: 3728917
19 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh37 Chromosome 16, 3778960: 3778960
20 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh38 Chromosome 16, 3728959: 3728959
21 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh37 Chromosome 16, 3779179: 3779179
22 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh38 Chromosome 16, 3729178: 3729178
23 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh37 Chromosome 16, 3779204: 3779214
24 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh38 Chromosome 16, 3729203: 3729213
25 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh37 Chromosome 16, 3779211: 3779211
26 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh38 Chromosome 16, 3729210: 3729210
27 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh37 Chromosome 16, 3779227: 3779227
28 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh38 Chromosome 16, 3729226: 3729226
29 CREBBP NM_004380.2(CREBBP): c.5800T> C (p.Ser1934Pro) single nucleotide variant Uncertain significance rs587783504 GRCh37 Chromosome 16, 3779248: 3779248
30 CREBBP NM_004380.2(CREBBP): c.5800T> C (p.Ser1934Pro) single nucleotide variant Uncertain significance rs587783504 GRCh38 Chromosome 16, 3729247: 3729247
31 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh37 Chromosome 16, 3781315: 3781315
32 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh38 Chromosome 16, 3731314: 3731314
33 CREBBP NM_004380.2(CREBBP): c.5039_5041delCCT (p.Ser1680del) deletion Likely pathogenic rs587783502 GRCh37 Chromosome 16, 3781324: 3781326
34 CREBBP NM_004380.2(CREBBP): c.5039_5041delCCT (p.Ser1680del) deletion Likely pathogenic rs587783502 GRCh38 Chromosome 16, 3731323: 3731325
35 CREBBP NM_004380.2(CREBBP): c.4894T> C (p.Phe1632Leu) single nucleotide variant Uncertain significance rs587783501 GRCh37 Chromosome 16, 3781471: 3781471
36 CREBBP NM_004380.2(CREBBP): c.4894T> C (p.Phe1632Leu) single nucleotide variant Uncertain significance rs587783501 GRCh38 Chromosome 16, 3731470: 3731470
37 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh37 Chromosome 16, 3781875: 3781875
38 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh38 Chromosome 16, 3731874: 3731874
39 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh37 Chromosome 16, 3786076: 3786076
40 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh38 Chromosome 16, 3736075: 3736075
41 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh37 Chromosome 16, 3786703: 3786703
42 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh38 Chromosome 16, 3736702: 3736702
43 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh37 Chromosome 16, 3786766: 3786766
44 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh38 Chromosome 16, 3736765: 3736765
45 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh37 Chromosome 16, 3786767: 3786767
46 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh38 Chromosome 16, 3736766: 3736766
47 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh37 Chromosome 16, 3786813: 3786813
48 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh38 Chromosome 16, 3736812: 3736812
49 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh37 Chromosome 16, 3788578: 3788578
50 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh38 Chromosome 16, 3738577: 3738577

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
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 19)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 64
Show member pathways
 12.81 ADCY9 CREB1 CREBBP EP300 GAS1
2
HTLV-I infection 37
12.16 ADCY9 CREB1 CREBBP EP300
3
BMAL1-CLOCK,NPAS2 activates circadian gene expression 66
Show member pathways
 12.01 CREB1 CREBBP EP300
4
Tuberculosis 37
12 CREB1 CREBBP EP300
5
cAMP signaling pathway 37
Show member pathways
 11.97 ADCY9 CREB1 CREBBP EP300
6
Long-term potentiation 37
Show member pathways
 11.96 CREB1 CREBBP EP300
7
Glucagon signaling pathway 37
11.7 CREB1 CREBBP EP300
8
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.67 CREB1 CREBBP EP300 MECP2
9
Androgen receptor signaling pathway 1
11.63 CREB1 CREBBP EP300
10
Glucocorticoid receptor regulatory network 1
11.57 CREB1 CREBBP EP300
11
Regulation of nuclear SMAD2/3 signaling 1
11.5 CREB1 CREBBP EP300
12
HIF-1-alpha transcription factor network 1
11.39 CREB1 CREBBP EP300
13
HIF1Alpha Pathway 64
11.23 CREB1 CREBBP EP300
14
Cellular Transformation by HTLV1 64
Show member pathways
 11.13 CREB1 CREBBP EP300
15
Transcription_CREM signaling in testis 22
10.92 CREB1 CREBBP
16
CD209 (DC-SIGN) signaling 66
10.89 CREBBP EP300
17
Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex 1
10.88 CREBBP EP300
18
Pathways Affected in Adenoid Cystic Carcinoma 1
10.74 CREBBP EP300 KAT6A SRCAP
19
FOXM1 transcription factor network 1
10.7 CREBBP EP300 GAS1
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 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 9.78 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 animal organ development GO:0048513 9.46 KAT6A LRP4
6 regulation of smoothened signaling pathway GO:0008589 9.43 CREBBP GAS1
7 positive regulation of transcription of Notch receptor target GO:0007221 9.37 CREBBP EP300
8 N-terminal peptidyl-lysine acetylation GO:0018076 9.16 CREBBP EP300
9 protein acetylation GO:0006473 9.13 CREBBP EP300 KAT6A
10 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 9.67 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 coregulator activity GO:0003712 9.58 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

Sources for Chromosome 16p13.3 Deletion Syndrome, Proximal

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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