MCID: CHR589
MIFTS: 32

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 6
Chromosome 17p13.3 Duplication Syndrome 57 12 13 15 72
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:

Disease Ontology 12 DOID:0060432
OMIM 57 613215
ICD10 33 Q92.3
ICD10 via Orphanet 34 Q92.3
UMLS via Orphanet 73 C2750748
Orphanet 59 ORPHA217385
UMLS 72 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 autism spectrum disorder and chromosomal duplication syndrome. 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. Affiliated tissues include brain, and related phenotypes are hypertelorism and frontal bossing

More information 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:

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

Clinical features from OMIM:

613215

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with cisplatin GR00101-A-4 8.62 DCX RAD51

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

MalaCards organs/tissues related to Chromosome 17p13.3, Centromeric, Duplication Syndrome:

41
Brain

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

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

# Title Authors PMID Year
1
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. 8
20452996 2010
2
A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. 8
19520700 2009
3
Increased LIS1 expression affects human and mouse brain development. 8
19136950 2009
4
Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3. 38
29628935 2018
5
Regulation of neuronal morphogenesis by 14-3-3epsilon (Ywhae) via the microtubule binding protein, doublecortin. 38
28173130 2016
6
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly. 38
23633430 2013
7
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation. 38
21195811 2011

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

ClinVar genetic disease variations for Chromosome 17p13.3, Centromeric, Duplication Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABR ; BHLHA9 ; CRK ; LOC112529892 ; TRARG1 ; YWHAE NC_000017.10: g.1130776_1361490dup duplication Pathogenic 17:1130776-1361490 17:1227482-1458196

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 YWHAE CRK
2 10.4 YWHAE CRK
3 10.29 YWHAE PAFAH1B1 DCX

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 YWHAE PAFAH1B1
2 microtubule associated complex GO:0005875 8.96 PAFAH1B1 DCX
3 central region of growth cone GO:0090724 8.62 YWHAE PAFAH1B1

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

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 9.16 YWHAE CRK
2 enzyme binding GO:0019899 9.13 YWHAE RAD51 CRK
3 phosphoprotein binding GO:0051219 8.62 YWHAE PAFAH1B1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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