MCID: CHR582
MIFTS: 34

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 57 25 44 73
Chromosome 3q29 Microduplication Syndrome 57 12 53 29 13 15
Trisomy 3q29 12 53 25 59
Microduplication 3q29 Syndrome 57 53 25
3q29 Microduplication Syndrome 25 59
3q29 Microduplication 12 25
3q29 Interstitial Microduplication 25

Characteristics:

Orphanet epidemiological data:

59
3q29 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
chromosome 3q29 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chromosome 3q29 Duplication Syndrome

NIH Rare Diseases : 53 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 abnormality of the dentition and cleft palate

Genetics Home Reference : 25 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 alacrima, achalasia, and mental retardation syndrome 10.0
3 cerebral palsy 10.0
4 epilepsy 10.0
5 cerebritis 10.0
6 restless legs syndrome 9.2 SNCA TFRC
7 chromosome 3q29 deletion syndrome 9.0 BDH1 SNCA TFRC
8 syndromic x-linked intellectual disability type 10 8.9 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

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
2 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 large fontanelles 59 32 occasional (7.5%) Occasional (29-5%) HP:0000239
5 microcephaly 59 32 very rare (1%) Frequent (79-30%) HP:0000252
6 macrocephaly 59 32 very rare (1%) Occasional (29-5%) HP:0000256
7 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
8 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
9 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
10 wide nasal bridge 59 32 very rare (1%) Occasional (29-5%) HP:0000431
11 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
12 downslanted palpebral fissures 59 32 very rare (1%) Frequent (79-30%) HP:0000494
13 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
14 aniridia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000526
15 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
16 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
17 sclerocornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000647
18 intellectual disability 59 32 very rare (1%) Frequent (79-30%) HP:0001249
19 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
20 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
21 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
22 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
23 obesity 59 32 very rare (1%) Frequent (79-30%) HP:0001513
24 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
25 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
26 camptodactyly of toe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001836
27 sandal gap 59 32 occasional (7.5%) Occasional (29-5%) HP:0001852
28 deep philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002002
29 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004397
30 biparietal narrowing 59 32 occasional (7.5%) Occasional (29-5%) HP:0004422
31 long face 32 very rare (1%) HP:0000276
32 round face 32 very rare (1%) HP:0000311
33 bulbous nose 32 very rare (1%) HP:0000414
34 blepharophimosis 32 very rare (1%) HP:0000581
35 abnormally large globe 32 HP:0001090
36 pes planus 32 very rare (1%) HP:0001763
37 low posterior hairline 32 very rare (1%) HP:0002162
38 short nose 32 very rare (1%) HP:0003196
39 multiple palmar creases 32 very rare (1%) HP:0006114
40 short palpebral fissure 32 HP:0012745

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 29

Anatomical Context for Chromosome 3q29 Duplication Syndrome

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

41
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 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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