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 56 29 6
Chromosome 17p13.3 Duplication Syndrome 56 12 13 15 71
17p13.3 Microduplication Syndrome 12 58
17p13.3 Duplication Syndrome 12 58
Trisomy 17p13.3 12 58
Chromosome 17p13.3 Centromeric Duplication Syndrome 12
Dup(17)(p13.3) 58

Characteristics:

Orphanet epidemiological data:

58
17p13.3 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060432
OMIM 56 613215
ICD10 32 Q92.3
ICD10 via Orphanet 33 Q92.3
UMLS via Orphanet 72 C2750748
Orphanet 58 ORPHA217385
UMLS 71 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 cerebellar hypoplasia and neuronal migration disorders. 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 IGF1 pathway and Lissencephaly gene (LIS1) in neuronal migration and development. 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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
7 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
8 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
9 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
10 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
11 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
12 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
13 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
14 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
15 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
16 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
17 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
18 tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0000098
19 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079

Clinical features from OMIM:

613215

MGI Mouse Phenotypes related to Chromosome 17p13.3, Centromeric, Duplication Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 BHLHA9 CRK DCX DPH1 MYO1C PAFAH1B1

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:

40
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. 56
20452996 2010
2
A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. 56
19520700 2009
3
Increased LIS1 expression affects human and mouse brain development. 56
19136950 2009
4
Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3. 61
29628935 2018
5
Regulation of neuronal morphogenesis by 14-3-3epsilon (Ywhae) via the microtubule binding protein, doublecortin. 61
28173130 2016
6
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly. 61
23633430 2013
7
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation. 61
21195811 2011

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

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABR , BHLHA9 , CRK , LOC112529892 , TRARG1 , YWHAE NC_000017.10:g.1130776_1361490dupduplication Pathogenic 599191 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 10.4 YWHAE CRK
2 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 cytoplasm GO:0005737 9.73 YWHAE WDR81 SPAST SGSM2 PAFAH1B1 OVCA2
2 extracellular exosome GO:0070062 9.7 YWHAE SPAST RTN4RL1 PAFAH1B1 MYO1E MYO1C
3 microtubule associated complex GO:0005875 9.26 PAFAH1B1 DCX
4 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 cerebral cortex development GO:0021987 9.33 YWHAE PAFAH1B1 CRK
2 layer formation in cerebral cortex GO:0021819 9.26 PAFAH1B1 DCX
3 neuron migration GO:0001764 9.26 YWHAE PAFAH1B1 DCX CRK
4 hippocampus development GO:0021766 8.92 YWHAE PAFAH1B1 DCX CRK

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

# Name GO ID Score Top Affiliating Genes
1 phosphoprotein binding GO:0051219 8.96 YWHAE PAFAH1B1
2 microfilament motor activity GO:0000146 8.62 MYO1E MYO1C

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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