MCID: CHR582
MIFTS: 31

Chromosome 3q29 Duplication Syndrome

Categories: Rare diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Chromosome 3q29 Duplication Syndrome

MalaCards integrated aliases for Chromosome 3q29 Duplication Syndrome:

Name: Chromosome 3q29 Duplication Syndrome 53 24 41 69
Chromosome 3q29 Microduplication Syndrome 53 12 49 28 13 14
Trisomy 3q29 12 49 24 55
Microduplication 3q29 Syndrome 53 49 24
3q29 Microduplication Syndrome 24 55
3q29 Microduplication 12 24
3q29 Interstitial Microduplication 24

Characteristics:

Orphanet epidemiological data:

55
3q29 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
chromosome 3q29 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 3q29 Duplication Syndrome

NIH Rare Diseases : 49 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. Last updated: 5/30/2012

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 syndromic x-linked intellectual disability type 10, and has symptoms including seizures, macrocephaly and low-set ears. An important gene associated with Chromosome 3q29 Duplication Syndrome is DUP3Q29 (Chromosome 3q29 Microduplication Syndrome). Affiliated tissues include eye.

Genetics Home Reference : 24 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 10.0
2 syndromic x-linked intellectual disability type 10 9.1 FSIP1 HSD17B10 HSD17B6

Symptoms & Phenotypes for Chromosome 3q29 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Chromosome 3q29 Duplication Syndrome:

55 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 macrocephaly 55 31 very rare (1%) Occasional (29-5%) HP:0000256
3 low-set ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000369
4 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
5 obesity 55 31 very rare (1%) Frequent (79-30%) HP:0001513
6 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
7 intellectual disability 55 31 very rare (1%) Frequent (79-30%) HP:0001249
8 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
9 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
10 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
11 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
12 abnormality of the dentition 55 31 frequent (33%) Frequent (79-30%) HP:0000164
13 wide nasal bridge 55 31 very rare (1%) Occasional (29-5%) HP:0000431
14 microcephaly 55 31 very rare (1%) Frequent (79-30%) HP:0000252
15 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
16 biparietal narrowing 55 31 occasional (7.5%) Occasional (29-5%) HP:0004422
17 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
18 downslanted palpebral fissures 55 31 very rare (1%) Frequent (79-30%) HP:0000494
19 sandal gap 55 31 occasional (7.5%) Occasional (29-5%) HP:0001852
20 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
21 deep philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002002
22 high forehead 55 31 occasional (7.5%) Occasional (29-5%) HP:0000348
23 large fontanelles 55 31 occasional (7.5%) Occasional (29-5%) HP:0000239
24 craniosynostosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001363
25 sclerocornea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000647
26 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
27 toe syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001770
28 ectopic anus 55 31 occasional (7.5%) Occasional (29-5%) HP:0004397
29 aniridia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000526
30 camptodactyly of toe 55 31 occasional (7.5%) Occasional (29-5%) HP:0001836
31 pes planus 31 very rare (1%) HP:0001763
32 short nose 31 very rare (1%) HP:0003196
33 low posterior hairline 31 very rare (1%) HP:0002162
34 round face 31 very rare (1%) HP:0000311
35 long face 31 very rare (1%) HP:0000276
36 bulbous nose 31 very rare (1%) HP:0000414
37 blepharophimosis 31 very rare (1%) HP:0000581
38 short palpebral fissure 31 HP:0012745
39 multiple palmar creases 31 very rare (1%) HP:0006114
40 abnormally large globe 31 HP:0001090

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 28

Anatomical Context for Chromosome 3q29 Duplication Syndrome

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

38
Eye

Publications for Chromosome 3q29 Duplication Syndrome

Articles related to Chromosome 3q29 Duplication Syndrome:

# Title Authors Year
1
Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity. ( 21108391 )
2010

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

GO Terms for Chromosome 3q29 Duplication Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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