MCID: CHR366
MIFTS: 25

Chromosome 5p13 Duplication Syndrome

Categories: Fetal diseases, Rare diseases, Genetic 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 73
5p13 Microduplication Syndrome 12 59
Trisomy 5p13 12 59
Dup(5)(p13) 59

Characteristics:

Orphanet epidemiological data:

59
5p13 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

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


HPO:

32
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 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 high palate and brachycephaly

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 8.9 GDNF SLC1A3

Symptoms & Phenotypes for Chromosome 5p13 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation
sleep disturbances
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

Human phenotypes related to Chromosome 5p13 Duplication Syndrome:

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

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

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 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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