MCID: CHR582
MIFTS: 31

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 57 25 44 72
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:



External Ids:

Disease Ontology 12 DOID:0060459
OMIM 57 611936
MeSH 44 C567626
ICD10 33 Q92.3
ICD10 via Orphanet 34 Q92.3
UMLS via Orphanet 73 C2749873
Orphanet 59 ORPHA251038
MedGen 42 C2749873
UMLS 72 C2749873

Summaries for Chromosome 3q29 Duplication Syndrome

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. The features associated with 3q29 microduplication syndrome vary widely. Some individuals with this chromosomal change have very mild or no related signs and symptoms, and the duplication is discovered because they undergo genetic testing only after a family member is diagnosed. Other people with a 3q29 microduplication have delayed development (particularly speech delay) and intellectual disability or learning difficulties. Although most affected individuals have no major birth defects, eye abnormalities, heart defects, and an unusually small head (microcephaly) can occur. 3q29 microduplication syndrome may increase the likelihood of being overweight or obese, although it is hard to determine whether these weight issues are caused by the duplication.

MalaCards based summary : Chromosome 3q29 Duplication Syndrome, also known as chromosome 3q29 microduplication syndrome, is related to chromosome 3q29 deletion syndrome 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, heart and testes, and related phenotypes are obesity and intellectual disability

NIH Rare Diseases : 53 Chromosome 3q29 microduplication syndrome is a rare chromosome abnormality characterized by having 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.

More information 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 chromosome 3q29 deletion syndrome 28.8 TFRC SNCA BDH1
2 alacrima, achalasia, and mental retardation syndrome 10.4
3 microcephaly 10.3
4 corpus callosum, agenesis of, with facial anomalies and robin sequence 10.2
5 cerebral palsy 10.2
6 3q29 recurrent deletion 10.2
7 hypotonia 10.2
8 syndromic x-linked intellectual disability type 10 9.7 HSD17B10 FSIP1
9 deafness, autosomal dominant 44 9.5 SNCA FGF12

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:

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

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:
downslanting palpebral fissures
short palpebral fissures
large eyes

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

Search Clinical Trials , 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, Heart, Testes

Publications for Chromosome 3q29 Duplication Syndrome

Articles related to Chromosome 3q29 Duplication Syndrome:

# Title Authors PMID Year
1
3q29 interstitial microduplication: a new syndrome in a three-generation family. 8
18241066 2008
2
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis. 38
16353244 2006

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 TFRC BDH1

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 SNCA HSD17B10 BDH1

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 TFRC SNCA
2 adult locomotory behavior GO:0008344 8.96 SNCA FGF12
3 receptor internalization GO:0031623 8.62 TFRC 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 8.8 SNCA HSD17B10 BDH1

Sources for Chromosome 3q29 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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