MCID: GND018
MIFTS: 24

Gene Duplication Disease

Categories: Genetic diseases

Aliases & Classifications for Gene Duplication Disease

MalaCards integrated aliases for Gene Duplication Disease:

Name: Gene Duplication Disease 12 15
Gene Duplication Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080712

Summaries for Gene Duplication Disease

Disease Ontology : 12 A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene.

MalaCards based summary : Gene Duplication Disease, also known as gene duplication syndrome, is related to alacrima, achalasia, and mental retardation syndrome and split-hand/foot malformation 3. An important gene associated with Gene Duplication Disease is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Androgen receptor signaling pathway. Affiliated tissues include heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which... more...

Related Diseases for Gene Duplication Disease

Diseases related to Gene Duplication Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 28.8 MECP2 HCFC1 GRM7 GDI1 FOXG1 FMR1
2 split-hand/foot malformation 3 11.5
3 yuan-harel-lupski syndrome 11.3
4 mecp2 disorders 10.3 MECP2 FOXG1
5 developmental and epileptic encephalopathy 14 10.2 MECP2 CDKL5
6 infancy electroclinical syndrome 10.2 MECP2 FOXG1 CDKL5
7 torsion dystonia 4 10.2 PLP1 MECP2
8 bruxism 10.2 MECP2 FOXG1 CDKL5
9 lennox-gastaut syndrome 10.2 MECP2 FOXG1 CDKL5
10 chromosome 14q11-q22 deletion syndrome 10.2 FOXG1 FMR1
11 gait apraxia 10.1 SIN3A MECP2 FOXG1 CDKL5
12 atypical autism 10.1 MECP2 FMR1
13 megalencephalic leukoencephalopathy with subcortical cysts 2a 10.1 PLP1 MECP2
14 pitt-hopkins-like syndrome 1 10.1 MECP2 FMR1 CDKL5
15 developmental and epileptic encephalopathy 8 10.1 RAB39B MECP2 IRAK1 GDI1
16 christianson syndrome 10.1 UBE3A MECP2 FOXG1 CDKL5
17 pitt-hopkins syndrome 10.1 UBE3A MECP2 FOXG1 CDKL5
18 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.1 MECP2 CDKL5
19 mowat-wilson syndrome 10.1 UBE3A MECP2 FOXG1 CDKL5
20 echolalia 10.1 MECP2 FMR1
21 congenital nervous system abnormality 10.1 UBE3A MECP2 FOXG1 CDKL5
22 sotos syndrome 1 10.1 UBE3A MECP2 FMR1
23 waisman syndrome 10.0 RAB39B HCFC1
24 early infantile epileptic encephalopathy 10.0 UBE3A MECP2 FOXG1 CDKL5
25 cerebral degeneration 10.0 PLP1 GRM7 DLG4
26 angelman syndrome 9.9 UBE3A MECP2 FMR1 CDKL5
27 childhood disintegrative disease 9.9 UBE3A MECP2 FMR1 BDNF
28 speech and communication disorders 9.9 MECP2 FMR1 BDNF
29 benign epilepsy with centrotemporal spikes 9.9 MECP2 FMR1 CDKL5 BDNF
30 chromosomal disease 9.9 UBE3A MECP2 FMR1 BDNF
31 kaufman oculocerebrofacial syndrome 9.9 FMR1 DLG4 BDNF
32 prader-willi syndrome 9.8 UBE3A MECP2 FMR1 BDNF
33 chromosomal duplication syndrome 9.8 MECP2 FMR1 DLG4 BDNF
34 charcot-marie-tooth disease, demyelinating, type 1a 9.8
35 potocki-lupski syndrome 9.8
36 charcot-marie-tooth disease 9.8
37 tooth disease 9.8
38 polyneuropathy 9.8
39 hypotonia 9.8
40 kagami-ogata syndrome 9.8 MECP2 FMR1 DLG4 BDNF
41 phobia, specific 9.8 FMR1 BDNF
42 phelan-mcdermid syndrome 9.7 UBE3A MECP2 FMR1 DLG4 CDKL5
43 non-syndromic x-linked intellectual disability 9.7 RAB39B MECP2 HCFC1 GDI1 FMR1
44 x-linked monogenic disease 9.7 PLP1 MECP2 FMR1 DLG4 BDNF
45 fragile x syndrome 9.6 UBE3A MECP2 FMR1 DLG4 BDNF
46 specific developmental disorder 9.5 UBE3A MECP2 FMR1 DLG4 CDKL5 BDNF
47 pervasive developmental disorder 9.4 UBE3A MECP2 FOXG1 FMR1 DLG4 CDKL5
48 autism spectrum disorder 9.4 UBE3A RAB39B MECP2 FMR1 DLG4 BDNF
49 rett syndrome 9.3 UBE3A SIN3A NCOR1 MECP2 IRAK1 GDI1
50 autism 9.1 UBE3A RAB39B MECP2 GRM7 FOXG1 FMR1

Graphical network of the top 20 diseases related to Gene Duplication Disease:



Diseases related to Gene Duplication Disease

Symptoms & Phenotypes for Gene Duplication Disease

GenomeRNAi Phenotypes related to Gene Duplication Disease according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.93 CDKL5
2 Decreased viability GR00055-A-2 9.93 CDKL5
3 Decreased viability GR00221-A-1 9.93 CDKL5
4 Decreased viability GR00221-A-2 9.93 CDKL5 DLG4
5 Decreased viability GR00221-A-3 9.93 CDKL5
6 Decreased viability GR00221-A-4 9.93 CDKL5 IRAK1
7 Decreased viability GR00249-S 9.93 CDKL5 CSAG1 IRAK1 UBE3A
8 Decreased viability GR00342-S-1 9.93 CDKL5
9 Decreased viability GR00342-S-3 9.93 CDKL5
10 Decreased viability GR00381-A-1 9.93 CSAG1 GDI1
11 Decreased viability GR00386-A-1 9.93 GRM7 UBE3A
12 Decreased viability GR00402-S-2 9.93 FXYD7
13 Increased the percentage of infected cells GR00402-S-1 8.32 CDKL5

MGI Mouse Phenotypes related to Gene Duplication Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.81 BDNF DLG4 FMR1 FOXG1 GRM7 MECP2
2 nervous system MP:0003631 9.7 BDNF CDKL5 DLG4 FMR1 FOXG1 GDI1
3 taste/olfaction MP:0005394 8.92 BDNF CDKL5 FOXG1 GDI1

Drugs & Therapeutics for Gene Duplication Disease

Search Clinical Trials , NIH Clinical Center for Gene Duplication Disease

Genetic Tests for Gene Duplication Disease

Anatomical Context for Gene Duplication Disease

MalaCards organs/tissues related to Gene Duplication Disease:

40
Heart

Publications for Gene Duplication Disease

Articles related to Gene Duplication Disease:

# Title Authors PMID Year
1
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature. 61
31585183 2020
2
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. 61
27796743 2017
3
A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability. 61
26759605 2016
4
A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay. 61
28030855 2016
5
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. 61
26544804 2015
6
Potocki-Lupski syndrome in conjunction with bilateral clubfoot. 61
25768679 2015
7
Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients. 61
24703762 2014

Variations for Gene Duplication Disease

Expression for Gene Duplication Disease

Search GEO for disease gene expression data for Gene Duplication Disease.

Pathways for Gene Duplication Disease

Pathways related to Gene Duplication Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.96 SIN3A NCOR1 MECP2 HCFC1
2 11.46 UBE3A SIN3A NCOR1
3 11.22 SIN3A NCOR1 FOXG1
4
Show member pathways
10.85 SIN3A NCOR1 MECP2
5 10.81 UBE3A SIN3A NCOR1 MECP2 BDNF

GO Terms for Gene Duplication Disease

Cellular components related to Gene Duplication Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.55 HCFC1 GRM7 FMR1 DLG4 BDNF
2 Sin3 complex GO:0016580 9.26 SIN3A NCOR1
3 postsynapse GO:0098794 9.26 MECP2 FMR1 DLG4 BDNF
4 axon GO:0030424 9.1 HCFC1 GRM7 GDI1 FMR1 DLG4 BDNF

Biological processes related to Gene Duplication Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab protein signal transduction GO:0032482 8.96 RAB39B GDI1
2 chemical synaptic transmission GO:0007268 8.92 PLP1 MECP2 GRM7 DLG4

Molecular functions related to Gene Duplication Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 siRNA binding GO:0035197 8.62 MECP2 FMR1

Sources for Gene Duplication Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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