MCID: CHR569
MIFTS: 13

Chromosomal Duplication Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosomal Duplication Syndrome

MalaCards integrated aliases for Chromosomal Duplication Syndrome:

Name: Chromosomal Duplication Syndrome 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060429

Summaries for Chromosomal Duplication Syndrome

MalaCards based summary : Chromosomal Duplication Syndrome is related to chromosome 8q22.1 duplication syndrome and potocki-lupski syndrome. An important gene associated with Chromosomal Duplication Syndrome is YWHAE (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon), and among its related pathways/superpathways are RAB GEFs exchange GTP for GDP on RABs and Lissencephaly gene (LIS1) in neuronal migration and development.

Related Diseases for Chromosomal Duplication Syndrome

Diseases related to Chromosomal Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 8q22.1 duplication syndrome 11.0
2 potocki-lupski syndrome 11.0
3 partial trisomy distal 4q 11.0
4 chromosome 17p13.3, centromeric, duplication syndrome 10.0 PAFAH1B1 YWHAE
5 neuronal migration disorders 10.0 PAFAH1B1 YWHAE
6 miller-dieker lissencephaly syndrome 9.9 PAFAH1B1 YWHAE
7 lissencephaly 9.9 PAFAH1B1 YWHAE

Graphical network of the top 20 diseases related to Chromosomal Duplication Syndrome:



Diseases related to Chromosomal Duplication Syndrome

Symptoms & Phenotypes for Chromosomal Duplication Syndrome

Drugs & Therapeutics for Chromosomal Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosomal Duplication Syndrome

Genetic Tests for Chromosomal Duplication Syndrome

Anatomical Context for Chromosomal Duplication Syndrome

Publications for Chromosomal Duplication Syndrome

Variations for Chromosomal Duplication Syndrome

Expression for Chromosomal Duplication Syndrome

Search GEO for disease gene expression data for Chromosomal Duplication Syndrome.

Pathways for Chromosomal Duplication Syndrome

Pathways related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.91 RAB39B YWHAE
2 10.11 PAFAH1B1 YWHAE

GO Terms for Chromosomal Duplication Syndrome

Cellular components related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

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

Biological processes related to Chromosomal 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 9.32 PAFAH1B1 YWHAE
2 microtubule cytoskeleton organization GO:0000226 9.26 PAFAH1B1 TUBA8
3 ciliary basal body-plasma membrane docking GO:0097711 9.16 PAFAH1B1 YWHAE
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.96 PAFAH1B1 YWHAE
5 microtubule-based process GO:0007017 8.62 PAFAH1B1 TUBA8

Molecular functions related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone deacetylase binding GO:0042826 8.96 NIPBL YWHAE
2 phosphoprotein binding GO:0051219 8.62 PAFAH1B1 YWHAE

Sources for Chromosomal 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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