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MCID: CHR593
MIFTS: 63

Chromosome 16p13.3 Deletion Syndrome, Proximal

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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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 58 30 74
Rubinstein-Taybi Syndrome 12 77 25 54 26 60 38 30 13 56 45 15 74
Broad Thumb-Hallux Syndrome 12 54 26 60
Chromosome 16p13.3 Deletion Syndrome 58 54 74
Rubinstein Syndrome 12 54
Rsts 54 26
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 54
Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion 60
Proximal Chromosome 16p13.3 Deletion Syndrome 12
Rubinstein-Taybi Deletion Syndrome 58
Broad Thumbs-Halluces Syndrome 60
Broad Thumbs-Hallux Syndrome 25
16p13.3 Deletion Syndrome 54
Rsts Deletion Syndrome 58
Rts 26

Characteristics:

Orphanet epidemiological data:

60
rubinstein-taybi syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

HPO:

33
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
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Bone diseases Endocrine diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Chromosome 16p13.3 Deletion Syndrome, Proximal

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NIH Rare Diseases : 54 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 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 kidney, heart and thyroid, and related phenotypes are high palate and intellectual disability

Wikipedia : 77 Rubinstein–Taybi syndrome (RTS), is a condition characterized by short stature, moderate to severe... 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 521)
# Related Disease Score Top Affiliating Genes
1 floating-harbor syndrome 32.3 CREBBP SRCAP
2 rubinstein-taybi syndrome 1 32.2 CREBBP EP300
3 human t-cell leukemia virus type 1 29.9 CREB1 CREBBP EP300
4 microcephaly 29.2 CKAP2L CREBBP EP300 MECP2 NIPBL
5 rothmund-thomson syndrome 12.2
6 atypical teratoid rhabdoid tumor 11.9
7 pilomatrixoma 11.8
8 rhabdoid cancer 11.7
9 coffin-lowry syndrome 11.4
10 polycystic kidney disease, infantile severe, with tuberous sclerosis 11.4
11 dengue disease 11.4
12 rapadilino syndrome 11.3
13 rett syndrome 11.3
14 rubinstein-taybi syndrome 2 11.2
15 rhabdoid tumor predisposition syndrome 1 11.0
16 congenital toxoplasmosis 11.0
17 keloids 10.7
18 malaria 10.6
19 leukemia 10.6
20 hepatitis 10.5
21 coloboma of macula 10.4
22 medulloblastoma 10.4
23 mouth disease 10.4
24 influenza 10.4
25 autism 10.3
26 menke-hennekam syndrome 1 10.3
27 menke-hennekam syndrome 2 10.3
28 congenital hypothyroidism 10.3
29 sleep apnea 10.3
30 juvenile glaucoma 10.3
31 hypothyroidism 10.3
32 slipped capital femoral epiphysis 10.3
33 epiphysiolysis of the hip 10.3
34 hepatitis a 10.3
35 diarrhea 10.3
36 myeloid leukemia 10.3
37 encephalitis 10.3
38 acute promyelocytic leukemia 10.3
39 melanoma 10.3
40 sarcoma 10.3
41 dengue virus 10.3
42 prostate cancer 10.2
43 chikungunya 10.2
44 newcastle disease 10.2
45 hepatitis e 10.2
46 adenocarcinoma 10.2
47 colorectal cancer 10.2
48 prostate cancer, hereditary, 8 10.2
49 prostate cancer, hereditary, 6 10.2
50 human immunodeficiency virus type 1 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
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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:

60 33 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 Very frequent (99-80%) HP:0000218
2 intellectual disability 60 33 Very frequent (99-80%) HP:0001249
3 seizures 60 33 Occasional (29-5%) HP:0001250
4 global developmental delay 60 33 Very frequent (99-80%) HP:0001263
5 microcephaly 60 33 Frequent (79-30%) HP:0000252
6 broad thumb 60 33 Very frequent (99-80%) HP:0011304
7 feeding difficulties in infancy 60 33 Very frequent (99-80%) HP:0008872
8 micrognathia 60 33 Frequent (79-30%) HP:0000347
9 strabismus 60 33 Frequent (79-30%) HP:0000486
10 clinodactyly of the 5th finger 60 33 Frequent (79-30%) HP:0004209
11 downslanted palpebral fissures 60 33 Very frequent (99-80%) HP:0000494
12 convex nasal ridge 60 33 Very frequent (99-80%) HP:0000444
13 hypertelorism 60 Very frequent (99-80%)
14 low-set ears 60 Very frequent (99-80%)
15 obesity 33 HP:0001513
16 finger syndactyly 60 Occasional (29-5%)
17 ptosis 60 Occasional (29-5%)
18 muscular hypotonia 33 HP:0001252
19 failure to thrive 33 HP:0001508
20 constipation 60 Frequent (79-30%)
21 respiratory insufficiency 60 Frequent (79-30%)
22 sleep disturbance 33 HP:0002360
23 scoliosis 33 HP:0002650
24 hearing impairment 60 Occasional (29-5%)
25 hip dysplasia 60 Occasional (29-5%)
26 abnormality of the dentition 60 Frequent (79-30%)
27 wide nasal bridge 60 Frequent (79-30%)
28 carious teeth 60 Frequent (79-30%)
29 abnormal facial shape 33 HP:0001999
30 short stature 60 Very frequent (99-80%)
31 broad hallux phalanx 60 Very frequent (99-80%)
32 irritability 60 Frequent (79-30%)
33 malformation of the heart and great vessels 60 Frequent (79-30%)
34 joint hyperflexibility 60 Very frequent (99-80%)
35 epicanthus 60 Frequent (79-30%)
36 generalized hirsutism 60 Frequent (79-30%)
37 cryptorchidism 60 Frequent (79-30%)
38 attention deficit hyperactivity disorder 60 Frequent (79-30%)
39 anxiety 60 Frequent (79-30%)
40 failure to thrive in infancy 60 Very frequent (99-80%)
41 myopia 33 HP:0000545
42 atypical scarring of skin 60 Occasional (29-5%)
43 hypoplastic left heart 33 HP:0004383
44 telecanthus 60 Very frequent (99-80%)
45 abnormality of the kidney 33 HP:0000077
46 glaucoma 60 Frequent (79-30%)
47 capillary hemangiomas 60 Occasional (29-5%)
48 brachydactyly 60 Very frequent (99-80%)
49 polyhydramnios 60 Occasional (29-5%)
50 recurrent infections 33 HP:0002719

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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.92 ADCY9 ARID1B CREB1 CREBBP EP300 GAS1
2 craniofacial MP:0005382 9.73 ADCY9 CREBBP EP300 GAS1 MECP2 NIPBL
3 embryo MP:0005380 9.7 ADCY9 CREB1 CREBBP EP300 GAS1 MECP2
4 nervous system MP:0003631 9.56 ADCY9 ARID1B CREB1 CREBBP EP300 GAS1
5 respiratory system MP:0005388 9.1 ADCY9 CREB1 CREBBP EP300 GAS1 MECP2
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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 Histone Deacetylase Inhibitors Phase 2
4 Tranquilizing Agents Phase 2
5 Antimanic Agents Phase 2
6 Central Nervous System Depressants Phase 2
7 GABA Agents 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

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 30
2 Rubinstein-Taybi Syndrome 30
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:

42
Kidney, Heart, Thyroid, Testes, T Cells, Myeloid, 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 370)
# Title Authors Year
1
First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene. ( 30614040 )
2019
2
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. ( 30633342 )
2019
3
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report. ( 30635043 )
2019
4
Anaesthetic implications of Rubinstein-Taybi syndrome. ( 30684926 )
2019
5
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. ( 30789376 )
2019
6
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders. ( 30806792 )
2019
7
Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication. ( 30921089 )
2019
8
Primary Diffuse Large B-Cell Lymphoma in a Patient with Rubinstein-Taybi Syndrome: Case Report and Review of the Literature. ( 29042334 )
2018
9
Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome. ( 29469775 )
2018
10
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma. ( 29551561 )
2018
11
Management of neuroendocrine tumor in a patient with Rubinstein-Taybi syndrome in chronic hemodialysis. ( 29126648 )
2018
12
Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography. ( 28815748 )
2018
13
Benign and malignant tumors in Rubinstein-Taybi syndrome. ( 29359884 )
2018
14
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish. ( 29409755 )
2018
15
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. ( 29460469 )
2018
16
Prolonged paralysis with atracurium use in a patient with Rubinstein-Taybi syndrome. ( 29472422 )
2018
17
Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach. ( 29637745 )
2018
18
Septate Uterus in a Girl with Rubinstein-Taybi Syndrome. ( 29850348 )
2018
19
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability. ( 29883886 )
2018
20
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
21
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency. ( 30076641 )
2018
22
Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature. ( 30183454 )
2018
23
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
24
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence. ( 27581590 )
2017
25
The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein-Taybi Syndrome. ( 28395077 )
2017
26
Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report. ( 28503387 )
2017
27
Rubinstein-Taybi Syndrome and Epigenetic Alterations. ( 28523540 )
2017
28
Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome. ( 28748333 )
2017
29
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene. ( 29745126 )
2017
30
Rubinstein-Taybi syndrome. ( 30566799 )
2017
31
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome. ( 27825976 )
2016
32
Rubinstein-Taybi syndrome - a window into follicular lymphoma biology. ( 27086936 )
2016
33
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report. ( 26485669 )
2016
34
Antibody deficiency in Rubinstein-Taybi syndrome. ( 26307339 )
2016
35
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation. ( 26374735 )
2016
36
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
37
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. ( 26788536 )
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
Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome. ( 27062171 )
2016
41
Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent. ( 27065842 )
2016
42
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. ( 27311832 )
2016
43
One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome. ( 27322716 )
2016
44
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. ( 27342041 )
2016
45
Anaesthetic Management of Children with Rubinstein-Taybi Syndrome. ( 27366579 )
2016
46
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. ( 27465822 )
2016
47
Rubinstein Taybi Syndrome with Psychosis. ( 27567660 )
2016
48
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. ( 27648933 )
2016
49
Hysterectomy due to Abnormal Uterine Bleeding in a 15-year Old Girl with Rubinstein-Taybi Syndrome. ( 27924288 )
2016
50
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. ( 27964710 )
2016
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Variations for Chromosome 16p13.3 Deletion Syndrome, Proximal

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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 65
Show member pathways
 12.83 ADCY9 CREB1 CREBBP EP300 GAS1
2
Development Ligand-independent activation of ESR1 and ESR2 23
Show member pathways
 12.11 CREB1 CREBBP EP300
3
Human T-cell leukemia virus 1 infection 38
12.1 ADCY9 CREB1 CREBBP EP300
4
Viral carcinogenesis 38
12.08 CREB1 CREBBP EP300
5
BMAL1-CLOCK,NPAS2 activates circadian gene expression 67
Show member pathways
 12.02 CREB1 CREBBP EP300
6
Tuberculosis 38
12.01 CREB1 CREBBP EP300
7
Long-term potentiation 38
Show member pathways
 11.97 CREB1 CREBBP EP300
8
cAMP signaling pathway 38
11.88 ADCY9 CREB1 CREBBP EP300
9
Glucagon signaling pathway 38
11.71 CREB1 CREBBP EP300
10
Androgen receptor signaling pathway 1
11.65 CREB1 CREBBP EP300
11
Glucocorticoid receptor regulatory network 1
11.58 CREB1 CREBBP EP300
12
Regulation of nuclear SMAD2/3 signaling 1
11.54 CREB1 CREBBP EP300
13
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.47 CREB1 CREBBP EP300 MECP2
14
Transcription Ligand-dependent activation of the ESR1/SP pathway 23
Show member pathways
 11.45 ARID1B CREBBP EP300
15
Pathways Affected in Adenoid Cystic Carcinoma 1
11.4 CREBBP EP300 SRCAP
16
HIF-1-alpha transcription factor network 1
11.36 CREB1 CREBBP EP300
17
HIF1Alpha Pathway 65
11.23 CREB1 CREBBP EP300
18
Initiation of transcription and translation elongation at the HIV-1 LTR 1
11.19 CREBBP EP300
19
HIF Repressor Pathways 66
Show member pathways
 11.17 CREBBP EP300
20
HIF-2-alpha transcription factor network 1
11.14 CREBBP EP300
21
Cellular Transformation by HTLV1 65
Show member pathways
 11.03 CREB1 CREBBP EP300
22
Transcription_CREM signaling in testis 23
10.93 CREB1 CREBBP
23
CD209 (DC-SIGN) signaling 67
10.9 CREBBP EP300
24
Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex 1
10.89 CREBBP EP300
25
FOXM1 transcription factor network 1
10.37 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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.71 CREB1 CREBBP EP300 SRCAP
2 positive regulation of multicellular organism growth GO:0040018 9.54 CREB1 NIPBL
3 positive regulation of type I interferon production GO:0032481 9.52 CREBBP EP300
4 beta-catenin-TCF complex assembly GO:1904837 9.51 CREBBP EP300
5 rhythmic process GO:0048511 9.5 CREB1 CREBBP EP300
6 developmental growth GO:0048589 9.49 GAS1 NIPBL
7 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.48 CREBBP EP300
8 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.46 CREBBP EP300
9 response to hypoxia GO:0001666 9.46 CREB1 CREBBP EP300 MECP2
10 regulation of smoothened signaling pathway GO:0008589 9.43 CREBBP GAS1
11 positive regulation of transcription of Notch receptor target GO:0007221 9.37 CREBBP EP300
12 protein acetylation GO:0006473 9.26 CREBBP EP300
13 N-terminal peptidyl-lysine acetylation GO:0018076 8.96 CREBBP EP300
14 histone acetylation GO:0016573 8.92 CREBBP EP300 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 factor binding GO:0008134 9.62 CREB1 CREBBP EP300 MECP2
2 transcription coactivator activity GO:0003713 9.56 ARID1B CREBBP EP300 SRCAP
3 acetyltransferase activity GO:0016407 9.37 CREBBP EP300
4 transcription coregulator activity GO:0003712 9.33 CREB1 CREBBP EP300
5 histone acetyltransferase activity GO:0004402 9.13 CREBBP EP300 SRCAP
6 RNA polymerase II activating transcription factor binding GO:0001102 8.8 CREB1 CREBBP EP300
Sources

Sources for Chromosome 16p13.3 Deletion Syndrome, Proximal

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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