MCID: CHR366
MIFTS: 24

Chromosome 5p13 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 5p13 Duplication Syndrome

MalaCards integrated aliases for Chromosome 5p13 Duplication Syndrome:

Name: Chromosome 5p13 Duplication Syndrome 58 12 30 13 15 74
5p13 Microduplication Syndrome 12 60
Trisomy 5p13 12 60
Dup(5)(p13) 60

Characteristics:

Orphanet epidemiological data:

60
5p13 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases

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


HPO:

33
chromosome 5p13 duplication syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 5p13 Duplication Syndrome

MalaCards based summary : Chromosome 5p13 Duplication Syndrome, also known as 5p13 microduplication syndrome, is related to attention deficit-hyperactivity disorder and amyotrophic lateral sclerosis 1, and has symptoms including sleep disturbances An important gene associated with Chromosome 5p13 Duplication Syndrome is DUP5P13 (Chromosome 5p13 Duplication Syndrome), and among its related pathways/superpathways is Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Related phenotypes are obsessive-compulsive behavior and short palpebral fissure

Description 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 attention deficit-hyperactivity disorder 9.6 GDNF SLC1A3
2 amyotrophic lateral sclerosis 1 9.5 GDNF SLC1A3

Symptoms & Phenotypes for Chromosome 5p13 Duplication Syndrome

Human phenotypes related to Chromosome 5p13 Duplication Syndrome:

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

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Chromosome 5p13 Duplication Syndrome

Publications for Chromosome 5p13 Duplication Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1 10.52 GDNF SLC1A3

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 regulation of gene expression GO:0010468 9.16 GDNF NIPBL
2 sensory perception of sound GO:0007605 8.96 NIPBL SLC1A3
3 metanephros development GO:0001656 8.62 GDNF NIPBL

Sources for Chromosome 5p13 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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