MCID: CHR589
MIFTS: 31

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 17p13.3, Centromeric, Duplication Syndrome

MalaCards integrated aliases for Chromosome 17p13.3, Centromeric, Duplication Syndrome:

Name: Chromosome 17p13.3, Centromeric, Duplication Syndrome 57 29
Chromosome 17p13.3 Duplication Syndrome 57 12 13 15 73
17p13.3 Microduplication Syndrome 12 59
17p13.3 Duplication Syndrome 12 59
Trisomy 17p13.3 12 59
Chromosome 17p13.3 Centromeric Duplication Syndrome 12
Dup(17)(p13.3) 59

Characteristics:

Orphanet epidemiological data:

59
17p13.3 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 57 613215
Disease Ontology 12 DOID:0060432
ICD10 33 Q92.3
Orphanet 59 ORPHA217385
ICD10 via Orphanet 34 Q92.3
UMLS via Orphanet 74 C2750748
UMLS 73 C2750748

Summaries for Chromosome 17p13.3, Centromeric, Duplication Syndrome

MalaCards based summary : Chromosome 17p13.3, Centromeric, Duplication Syndrome, also known as chromosome 17p13.3 duplication syndrome, is related to chromosomal duplication syndrome and lissencephaly, x-linked, 1. An important gene associated with Chromosome 17p13.3, Centromeric, Duplication Syndrome is DUP17P13.3 (Chromosome 17p13.3 Duplication Syndrome), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and IGF1 pathway. Related phenotypes are hypertelorism and low-set ears

Description from OMIM: 613215

Related Diseases for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Graphical network of the top 20 diseases related to Chromosome 17p13.3, Centromeric, Duplication Syndrome:



Diseases related to Chromosome 17p13.3, Centromeric, Duplication Syndrome

Symptoms & Phenotypes for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Clinical features from OMIM:

613215

Human phenotypes related to Chromosome 17p13.3, Centromeric, Duplication Syndrome:

59 32 (show all 19)
# 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 frequent (33%) Frequent (79-30%) HP:0000369
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
5 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
6 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
10 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
11 congenital hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001374
12 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
13 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
14 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
15 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
16 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
17 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
18 tall stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0000098
19 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079

Drugs & Therapeutics for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Genetic Tests for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Genetic tests related to Chromosome 17p13.3, Centromeric, Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 17p13.3, Centromeric, Duplication Syndrome 29

Anatomical Context for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Publications for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Articles related to Chromosome 17p13.3, Centromeric, Duplication Syndrome:

# Title Authors Year
1
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. ( 21901111 )
2011

Variations for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Expression for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 17p13.3, Centromeric, Duplication Syndrome.

Pathways for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Pathways related to Chromosome 17p13.3, Centromeric, Duplication Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.33 CRK YWHAE
2 10.4 CRK YWHAE
3 10.29 DCX PAFAH1B1 YWHAE

GO Terms for Chromosome 17p13.3, Centromeric, Duplication Syndrome

Cellular components related to Chromosome 17p13.3, Centromeric, Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinesin complex GO:0005871 9.16 PAFAH1B1 YWHAE
2 microtubule associated complex GO:0005875 8.96 DCX PAFAH1B1
3 central region of growth cone GO:0090724 8.62 PAFAH1B1 YWHAE

Biological processes related to Chromosome 17p13.3, Centromeric, Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.4 PAFAH1B1 YWHAE
2 neuron migration GO:0001764 9.37 DCX PAFAH1B1
3 ciliary basal body-plasma membrane docking GO:0097711 9.32 PAFAH1B1 YWHAE
4 regulation of GTPase activity GO:0043087 9.26 CRK PAFAH1B1
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.16 PAFAH1B1 YWHAE
6 hippocampus development GO:0021766 8.96 DCX PAFAH1B1
7 layer formation in cerebral cortex GO:0021819 8.62 DCX PAFAH1B1

Molecular functions related to Chromosome 17p13.3, Centromeric, Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 8.96 CRK YWHAE
2 phosphoprotein binding GO:0051219 8.62 PAFAH1B1 YWHAE

Sources for Chromosome 17p13.3, Centromeric, Duplication Syndrome

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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