RTS
MCID: CHR593
MIFTS: 64

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

Categories: Bone 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 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
Rubinsteintaybi Syndrome 76
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:



Summaries for Chromosome 16p13.3 Deletion Syndrome, Proximal

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 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 Cushing syndrome. Affiliated tissues include heart, kidney and testes, and related phenotypes are high palate and intellectual disability

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

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 435)
# Related Disease Score Top Affiliating Genes
1 floating-harbor syndrome 32.3 CREBBP SRCAP
2 rubinstein-taybi syndrome 1 32.1 CREBBP EP300
3 human t-cell leukemia virus type 1 29.9 CREB1 CREBBP EP300
4 microcephaly 29.6 CKAP2L CREBBP EP300 MECP2 VPS13B
5 rothmund-thomson syndrome 12.1
6 atypical teratoid rhabdoid tumor 11.9
7 rhabdoid cancer 11.6
8 pilomatrixoma 11.4
9 coffin-lowry syndrome 11.4
10 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.3
11 dengue disease 11.3
12 rapadilino syndrome 11.3
13 rett syndrome 11.2
14 rubinstein-taybi syndrome 2 11.1
15 rhabdoid tumor predisposition syndrome 1 11.0
16 congenital toxoplasmosis 11.0
17 keloids 10.7
18 malaria 10.6
19 leukemia 10.4
20 medulloblastoma 10.4
21 scoliosis 10.4
22 hepatitis 10.3
23 congenital hypothyroidism 10.3
24 sleep apnea 10.3
25 hypothyroidism 10.3
26 neonatal hypothyroidism 10.3
27 slipped capital femoral epiphysis 10.3
28 breast cancer 10.3
29 myeloid leukemia 10.2
30 melanoma 10.2
31 influenza 10.2
32 colorectal cancer 10.2
33 prostate cancer 10.2
34 encephalitis 10.2
35 gastric cancer 10.2
36 chikungunya 10.2
37 adenocarcinoma 10.2
38 anterior segment dysgenesis 1 10.2
39 gastroesophageal reflux 10.2
40 cleft palate, isolated 10.2
41 hirschsprung disease 1 10.2
42 myositis 10.2
43 nevus, epidermal 10.2
44 pheochromocytoma 10.2
45 retinal detachment 10.2
46 spondylolisthesis 10.2
47 anus, imperforate 10.2
48 autism 10.2
49 familial mediterranean fever 10.2
50 smith-lemli-opitz syndrome 10.2

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:

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 irritability 59 Frequent (79-30%)
33 malformation of the heart and great vessels 59 Frequent (79-30%)
34 joint hyperflexibility 59 Very frequent (99-80%)
35 epicanthus 59 Frequent (79-30%)
36 generalized hirsutism 59 Frequent (79-30%)
37 cryptorchidism 59 Frequent (79-30%)
38 attention deficit hyperactivity disorder 59 Frequent (79-30%)
39 anxiety 59 Frequent (79-30%)
40 failure to thrive in infancy 59 Very frequent (99-80%)
41 myopia 32 HP:0000545
42 atypical scarring of skin 59 Occasional (29-5%)
43 hypoplastic left heart 32 HP:0004383
44 telecanthus 59 Very frequent (99-80%)
45 abnormality of the kidney 32 HP:0000077
46 glaucoma 59 Frequent (79-30%)
47 capillary hemangiomas 59 Occasional (29-5%)
48 brachydactyly 59 Very frequent (99-80%)
49 polyhydramnios 59 Occasional (29-5%)
50 recurrent infections 32 HP:0002719

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 embryo MP:0005380 9.97 ADCY9 CREB1 CREBBP EP300 GAS1 KAT6A
2 craniofacial MP:0005382 9.91 ADCY9 CREBBP EP300 GAS1 KAT6A LRP4
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 ADCY9 CREB1 CREBBP GAS1 KAT6A LRP4

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

Search Clinical Trials , 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 29 CREBBP EP300
2 Chromosome 16p13.3 Deletion Syndrome, Proximal 29

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

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

41
Heart, Kidney, Testes, Bone, Thyroid, B Cells, Eye

Publications for Chromosome 16p13.3 Deletion Syndrome, Proximal

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

(show top 50) (show all 361)
# Title Authors Year
1
Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome. ( 29469775 )
2018
2
Primary Diffuse Large B-Cell Lymphoma in a Patient with Rubinstein-Taybi Syndrome: Case Report and Review of the Literature. ( 29042334 )
2018
3
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma. ( 29551561 )
2018
4
Management of neuroendocrine tumor in a patient with Rubinstein-Taybi syndrome in chronic hemodialysis. ( 29126648 )
2018
5
Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography. ( 28815748 )
2018
6
Benign and malignant tumors in Rubinstein-Taybi syndrome. ( 29359884 )
2018
7
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish. ( 29409755 )
2018
8
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. ( 29460469 )
2018
9
Prolonged paralysis with atracurium use in a patient with Rubinstein-Taybi syndrome. ( 29472422 )
2018
10
Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach. ( 29637745 )
2018
11
Septate Uterus in a Girl with Rubinstein-Taybi Syndrome. ( 29850348 )
2018
12
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability. ( 29883886 )
2018
13
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*). ( 29944992 )
2018
14
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency. ( 30076641 )
2018
15
Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature. ( 30183454 )
2018
16
Early Antenatal Sonographic Findings of Rubinstein-Taybi Syndrome: Imaging of High-Arched Palate and Bilateral Abducted Thumbs on Surface Rendering Mode at 17 Weeks. ( 30370401 )
2018
17
The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein-Taybi Syndrome. ( 28395077 )
2017
18
Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report. ( 28503387 )
2017
19
Rubinstein-Taybi Syndrome and Epigenetic Alterations. ( 28523540 )
2017
20
Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome. ( 28748333 )
2017
21
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene. ( 29745126 )
2017
22
Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome. ( 27062171 )
2016
23
Hysterectomy due to Abnormal Uterine Bleeding in a 15-year Old Girl with Rubinstein-Taybi Syndrome. ( 27924288 )
2016
24
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. ( 27342041 )
2016
25
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. ( 27964710 )
2016
26
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. ( 27465822 )
2016
27
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence. ( 27581590 )
2016
28
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. ( 26788536 )
2016
29
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. ( 27825976 )
2016
30
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
31
One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome. ( 27322716 )
2016
32
Anaesthetic Management of Children with Rubinstein-Taybi Syndrome. ( 27366579 )
2016
33
Rubinstein-Taybi syndrome - a window into follicular lymphoma biology. ( 27086936 )
2016
34
Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent. ( 27065842 )
2016
35
Rubinstein Taybi Syndrome with Psychosis. ( 27567660 )
2016
36
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. ( 27311832 )
2016
37
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. ( 27648933 )
2016
38
Electroclinical phenotype in Rubinstein-Taybi syndrome. ( 26867510 )
2016
39
Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. ( 27011324 )
2016
40
Antibody deficiency in Rubinstein-Taybi syndrome. ( 26307339 )
2015
41
A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood. ( 25683362 )
2015
42
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
43
Intestinal malrotation in Rubinstein-Taybi syndrome. ( 26097216 )
2015
44
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. ( 25805166 )
2015
45
Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review. ( 25675181 )
2015
46
Rubinstein-Taybi syndrome with agenesis of corpus callosum. ( 26167229 )
2015
47
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome. ( 26275701 )
2015
48
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. ( 25712426 )
2015
49
Rubinstein-Taybi syndrome associated with humoral immunodeficiency. ( 25997309 )
2015
50
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report. ( 26485669 )
2015

Variations for Chromosome 16p13.3 Deletion Syndrome, Proximal

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 ADCY9 CREB1 CREBBP EP300 GAS1
2
Show member pathways
12.18 ADCY9 CREB1 CREBBP EP300
3 12.16 ADCY9 CREB1 CREBBP EP300
4
Show member pathways
12.02 CREB1 CREBBP EP300
5 12.01 CREB1 CREBBP EP300
6
Show member pathways
11.97 CREB1 CREBBP EP300
7
Show member pathways
11.97 ADCY9 CREB1 CREBBP EP300
8 11.71 CREB1 CREBBP EP300
9 11.67 CREB1 CREBBP EP300 MECP2
10 11.65 CREB1 CREBBP EP300
11 11.58 CREB1 CREBBP EP300
12 11.5 CREB1 CREBBP EP300
13 11.39 CREB1 CREBBP EP300
14 11.23 CREB1 CREBBP EP300
15
Show member pathways
11.13 CREB1 CREBBP EP300
16 10.93 CREB1 CREBBP
17 10.9 CREBBP EP300
18 10.89 CREBBP EP300
19 10.74 CREBBP EP300 KAT6A SRCAP
20 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 8.8 CREBBP EP300 KAT6A

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

(show all 13)
# 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 beta-catenin-TCF complex assembly GO:1904837 9.52 CREBBP EP300
6 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.51 CREBBP EP300
7 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.49 CREBBP EP300
8 regulation of smoothened signaling pathway GO:0008589 9.46 CREBBP GAS1
9 positive regulation of transcription of Notch receptor target GO:0007221 9.43 CREBBP EP300
10 animal organ development GO:0048513 9.37 KAT6A LRP4
11 N-terminal peptidyl-lysine acetylation GO:0018076 9.16 CREBBP EP300
12 protein acetylation GO:0006473 9.13 CREBBP EP300 KAT6A
13 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 coregulator 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
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
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