MCID: CHR366
MIFTS: 27

Chromosome 5p13 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 5p13 Duplication Syndrome

MalaCards integrated aliases for Chromosome 5p13 Duplication Syndrome:

Name: Chromosome 5p13 Duplication Syndrome 57 12 29 13 15 70
5p13 Microduplication Syndrome 12 58
Trisomy 5p13 12 58
Dup(5)(p13) 58

Characteristics:

Orphanet epidemiological data:

58
5p13 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
isolated cases

Miscellaneous:
contiguous gene duplication syndrome
five unrelated patients have been reported (as of december 2009)


HPO:

31
chromosome 5p13 duplication syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 5p13 Duplication Syndrome

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 5p13 region.

MalaCards based summary : Chromosome 5p13 Duplication Syndrome, also known as 5p13 microduplication syndrome, is related to learning disability and inguinal hernia, and has symptoms including sleep disturbances An important gene associated with Chromosome 5p13 Duplication Syndrome is DUP5P13 (Chromosome 5p13 Duplication Syndrome). Related phenotypes are obsessive-compulsive behavior and short palpebral fissure

More information from OMIM: 613174

Related Diseases for Chromosome 5p13 Duplication Syndrome

Diseases related to Chromosome 5p13 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 learning disability 10.1
2 inguinal hernia 10.0
3 omphalocele 10.0
4 hypospadias 10.0
5 chromosomal triplication 10.0
6 chromosome 5p duplication 10.0
7 cornelia de lange syndrome 9.7 SMC5 NIPBL

Graphical network of the top 20 diseases related to Chromosome 5p13 Duplication Syndrome:



Diseases related to Chromosome 5p13 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 5p13 Duplication Syndrome

Human phenotypes related to Chromosome 5p13 Duplication Syndrome:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 obsessive-compulsive behavior 31 occasional (7.5%) HP:0000722
2 short palpebral fissure 31 occasional (7.5%) HP:0012745
3 macrocephaly 31 HP:0000256
4 intellectual disability 31 HP:0001249
5 agenesis of corpus callosum 31 HP:0001274
6 frontal bossing 31 HP:0002007
7 sleep disturbance 31 HP:0002360
8 scoliosis 31 HP:0002650
9 high palate 31 HP:0000218
10 global developmental delay 31 HP:0001263
11 hypertelorism 31 HP:0000316
12 wide nasal bridge 31 HP:0000431
13 stereotypy 31 HP:0000733
14 brachycephaly 31 HP:0000248
15 low-set ears 31 HP:0000369
16 low posterior hairline 31 HP:0002162
17 epicanthus 31 HP:0000286
18 upslanted palpebral fissure 31 HP:0000582
19 proptosis 31 HP:0000520
20 turricephaly 31 HP:0000262
21 short philtrum 31 HP:0000322
22 bulbous nose 31 HP:0000414
23 broad forehead 31 HP:0000337
24 blepharophimosis 31 HP:0000581
25 craniosynostosis 31 HP:0001363
26 hypotelorism 31 HP:0000601
27 large hands 31 HP:0001176
28 sparse hair 31 HP:0008070
29 astigmatism 31 HP:0000483
30 small for gestational age 31 HP:0001518
31 generalized hypotonia 31 HP:0001290
32 long fingers 31 HP:0100807
33 exotropia 31 HP:0000577
34 narrow forehead 31 HP:0000341
35 long foot 31 HP:0001833
36 seizure 31 HP:0001250
37 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
sleep disturbances
mental retardation
delayed development
seizures (in 1 patient)
agenesis of the corpus callosum (1 patient)

Head And Neck Head:
brachycephaly (1 patient)
turricephaly (1 patient)

Head And Neck Ears:
low-set ears (3 patients)
hearing disorder (1 patient)
small pits anterior to the helix (1 patient)

Head And Neck Nose:
bulbous nasal tip (1 patient)
broad nasal root (2 patients)

Skeletal Skull:
craniosynostosis (1 patient)

Skeletal Hands:
large hands (1 patient)
long fingers (2 patient)

Skin Nails Hair Hair:
low posterior hairline (1 patient)
sparse hair (1 patient)

Neurologic Behavioral Psychiatric Manifestations:
stereotypic behavior (1 patient)
obsessive compulsive behavior (1 patient)

Growth Weight:
low birth weight (2 patients)
overweight as adult (2 patients)

Head And Neck Face:
macrocephaly (1 patient)
frontal bossing (3 patients)
broad forehead (2 patients)
bitemporal narrowing (2 patients)
short philtrum (4 patients)

Head And Neck Eyes:
short palpebral fissures (2 patients)
strabismus (1 patient)
hypotelorism (1 patient)
hypertelorism (1 patient)
upslanting palpebral fissures (1 patient)
more
Head And Neck Mouth:
high-arched palate (3 patients)

Skeletal Spine:
scoliosis (1 patient)

Skeletal Feet:
large feet (1 patient)

Muscle Soft Tissue:
hypotonia (2 patients)

Laboratory Abnormalities:
microduplication of chromosome 5p13

Clinical features from OMIM®:

613174 (Updated 20-May-2021)

UMLS symptoms related to Chromosome 5p13 Duplication Syndrome:


sleep disturbances

Drugs & Therapeutics for Chromosome 5p13 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 5p13 Duplication Syndrome

Genetic Tests for Chromosome 5p13 Duplication Syndrome

Genetic tests related to Chromosome 5p13 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 5p13 Duplication Syndrome 29

Anatomical Context for Chromosome 5p13 Duplication Syndrome

Publications for Chromosome 5p13 Duplication Syndrome

Articles related to Chromosome 5p13 Duplication Syndrome:

# Title Authors PMID Year
1
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. 57
19052029 2009
2
Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5). 61
25858703 2015
3
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 61
23085304 2013
4
Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen. 61
8914742 1996

Variations for Chromosome 5p13 Duplication Syndrome

Expression for Chromosome 5p13 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 5p13 Duplication Syndrome.

Pathways for Chromosome 5p13 Duplication Syndrome

GO Terms for Chromosome 5p13 Duplication Syndrome

Biological processes related to Chromosome 5p13 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.16 SLC1A3 NIPBL
2 fat cell differentiation GO:0045444 8.96 NIPBL C1QTNF3
3 stem cell population maintenance GO:0019827 8.62 SMC5 NIPBL

Sources for Chromosome 5p13 Duplication Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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