MCID: CHR589
MIFTS: 30

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 58 30
Chromosome 17p13.3 Duplication Syndrome 58 12 13 15 74
17p13.3 Microduplication Syndrome 12 60
17p13.3 Duplication Syndrome 12 60
Trisomy 17p13.3 12 60
Chromosome 17p13.3 Centromeric Duplication Syndrome 12
Dup(17)(p13.3) 60

Characteristics:

Orphanet epidemiological data:

60
17p13.3 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060432
OMIM 58 613215
ICD10 34 Q92.3
ICD10 via Orphanet 35 Q92.3
UMLS via Orphanet 75 C2750748
Orphanet 60 ORPHA217385
UMLS 74 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 frontal bossing

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

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

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
6 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
7 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
8 wide nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000445
9 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
10 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
11 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
12 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
13 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
14 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
15 congenital hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001374
16 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
17 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
18 tall stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0000098
19 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079

Clinical features from OMIM:

613215

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 30

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 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
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