MCID: CHR582
MIFTS: 34

Chromosome 3q29 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 3q29 Duplication Syndrome

MalaCards integrated aliases for Chromosome 3q29 Duplication Syndrome:

Name: Chromosome 3q29 Duplication Syndrome 58 26 45 74
Chromosome 3q29 Microduplication Syndrome 58 12 54 30 13 15
Trisomy 3q29 12 54 26 60
Microduplication 3q29 Syndrome 58 54 26
3q29 Microduplication Syndrome 26 60
3q29 Microduplication 12 26
3q29 Interstitial Microduplication 26

Characteristics:

Orphanet epidemiological data:

60
3q29 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
chromosome 3q29 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 3q29 Duplication Syndrome

NIH Rare Diseases : 54 Chromosome 3q29 microduplication syndrome is a rare chromosome abnormality characterized by havingĀ an extra copy of material (duplication) on a specific part of the long arm of chromosome 3. The signs and symptoms vary among affected individuals, but the most common features include mild or moderate intellectual disability and microcephaly. The condition may occur for the first time in the affected individual (de novo) or it can be inherited from a mildly affected or apparently normal parent. Treatment is directed toward the specific signs and symptoms present in each individual.

MalaCards based summary : Chromosome 3q29 Duplication Syndrome, also known as chromosome 3q29 microduplication syndrome, is related to corpus callosum, agenesis of, with facial anomalies and robin sequence and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Chromosome 3q29 Duplication Syndrome is DUP3Q29 (Chromosome 3q29 Microduplication Syndrome), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include eye, and related phenotypes are obesity and intellectual disability

Genetics Home Reference : 26 3q29 microduplication syndrome (also known as 3q29 duplication syndrome) is a condition that results from the copying (duplication) of a small piece of chromosome 3 in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q29.

Description from OMIM: 611936

Related Diseases for Chromosome 3q29 Duplication Syndrome

Diseases related to Chromosome 3q29 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corpus callosum, agenesis of, with facial anomalies and robin sequence 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 cerebral palsy 10.2
4 epilepsy 10.2
5 chromosome 3q29 deletion syndrome 9.4 BDH1 SNCA TFRC
6 syndromic x-linked intellectual disability type 10 9.4 FSIP1 HSD17B10 HSD17B6

Graphical network of the top 20 diseases related to Chromosome 3q29 Duplication Syndrome:



Diseases related to Chromosome 3q29 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 3q29 Duplication Syndrome

Human phenotypes related to Chromosome 3q29 Duplication Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 very rare (1%) Frequent (79-30%) HP:0001513
2 intellectual disability 60 33 very rare (1%) Frequent (79-30%) HP:0001249
3 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
4 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
5 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
6 microcephaly 60 33 very rare (1%) Frequent (79-30%) HP:0000252
7 downslanted palpebral fissures 60 33 very rare (1%) Frequent (79-30%) HP:0000494
8 macrocephaly 60 33 very rare (1%) Occasional (29-5%) HP:0000256
9 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
10 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
11 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
12 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
13 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
14 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
15 wide nasal bridge 60 33 very rare (1%) Occasional (29-5%) HP:0000431
16 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
17 biparietal narrowing 60 33 occasional (7.5%) Occasional (29-5%) HP:0004422
18 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
19 sandal gap 60 33 occasional (7.5%) Occasional (29-5%) HP:0001852
20 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
21 deep philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002002
22 high forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000348
23 large fontanelles 60 33 occasional (7.5%) Occasional (29-5%) HP:0000239
24 craniosynostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001363
25 sclerocornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000647
26 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
27 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
28 ectopic anus 60 33 occasional (7.5%) Occasional (29-5%) HP:0004397
29 aniridia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000526
30 camptodactyly of toe 60 33 occasional (7.5%) Occasional (29-5%) HP:0001836
31 pes planus 33 very rare (1%) HP:0001763
32 short nose 33 very rare (1%) HP:0003196
33 low posterior hairline 33 very rare (1%) HP:0002162
34 round face 33 very rare (1%) HP:0000311
35 long face 33 very rare (1%) HP:0000276
36 bulbous nose 33 very rare (1%) HP:0000414
37 blepharophimosis 33 very rare (1%) HP:0000581
38 multiple palmar creases 33 very rare (1%) HP:0006114
39 short palpebral fissure 33 HP:0012745
40 abnormally large globe 33 HP:0001090

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Skeletal Feet:
pes planus

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Eyes:
large eyes
downslanting palpebral fissures
short palpebral fissures

Skeletal Hands:
excessive hand creases

Head And Neck Nose:
wide nasal bridge
short nose
bulbous nose
broad nasal bridge

Head And Neck Head:
microcephaly

Head And Neck Face:
round face
long face

Neurologic Central Nervous System:
mental retardation, mild to moderate
cognitive delay

Laboratory Abnormalities:
1.61- and 1.76-mb microduplication of 3q29

Clinical features from OMIM:

611936

Drugs & Therapeutics for Chromosome 3q29 Duplication Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome Recruiting NCT02447861

Search NIH Clinical Center for Chromosome 3q29 Duplication Syndrome

Cochrane evidence based reviews: chromosome 3q29 duplication syndrome

Genetic Tests for Chromosome 3q29 Duplication Syndrome

Genetic tests related to Chromosome 3q29 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 3q29 Microduplication Syndrome 30

Anatomical Context for Chromosome 3q29 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 3q29 Duplication Syndrome:

42
Eye

Publications for Chromosome 3q29 Duplication Syndrome

Articles related to Chromosome 3q29 Duplication Syndrome:

# Title Authors Year
1
Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome. ( 24838842 )
2014

Variations for Chromosome 3q29 Duplication Syndrome

Expression for Chromosome 3q29 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 3q29 Duplication Syndrome.

Pathways for Chromosome 3q29 Duplication Syndrome

Pathways related to Chromosome 3q29 Duplication Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.27 BDH1 TFRC

GO Terms for Chromosome 3q29 Duplication Syndrome

Cellular components related to Chromosome 3q29 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.8 BDH1 HSD17B10 SNCA

Biological processes related to Chromosome 3q29 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.16 SNCA TFRC
2 receptor internalization GO:0031623 8.96 SNCA TFRC
3 oxidation-reduction process GO:0055114 8.92 BDH1 HSD17B10 HSD17B6 SNCA

Molecular functions related to Chromosome 3q29 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.92 BDH1 HSD17B10 HSD17B6 SNCA

Sources for Chromosome 3q29 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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