MCID: CHR582
MIFTS: 18

Chromosome 3q29 Duplication Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 3q29 Duplication Syndrome

Summaries for Chromosome 3q29 Duplication Syndrome

MalaCards based summary : Chromosome 3q29 Duplication Syndrome, also known as 3q29 microduplication, is related to chromosome 3q29 microduplication syndrome, and has symptoms including seizures, high forehead and microcephaly. Affiliated tissues include eye.

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:

id Related Disease Score Top Affiliating Genes
1 chromosome 3q29 microduplication syndrome 11.2

Symptoms & Phenotypes for Chromosome 3q29 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Head And Neck- Face:
long face
round face

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

Skeletal- Feet:
pes planus

Skeletal- Hands:
excessive hand creases

Head And Neck- Head:
microcephaly

Head And Neck- Eyes:
short palpebral fissures
downslanted palpebral fissures
large eyes

Skin Nails & Hair- Hair:
low posterior hairline

Growth- Weight:
obesity

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


Clinical features from OMIM:

611936

Human phenotypes related to Chromosome 3q29 Duplication Syndrome:

56 32 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 high forehead 56 32 occasional (7.5%) Occasional (29-5%) HP:0000348
3 microcephaly 56 32 very rare (1%) Frequent (79-30%) HP:0000252
4 low-set ears 56 32 occasional (7.5%) Occasional (29-5%) HP:0000369
5 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
6 large fontanelles 56 32 occasional (7.5%) Occasional (29-5%) HP:0000239
7 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
8 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
9 sclerocornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000647
10 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
11 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
12 macrocephaly 56 32 very rare (1%) Occasional (29-5%) HP:0000256
13 intellectual disability 56 32 very rare (1%) Frequent (79-30%) HP:0001249
14 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
15 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
16 wide nasal bridge 56 32 very rare (1%) Occasional (29-5%) HP:0000431
17 deep philtrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0002002
18 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
19 downslanted palpebral fissures 56 32 very rare (1%) Frequent (79-30%) HP:0000494
20 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
21 obesity 56 32 very rare (1%) Frequent (79-30%) HP:0001513
22 craniosynostosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001363
23 sandal gap 56 32 occasional (7.5%) Occasional (29-5%) HP:0001852
24 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
25 aniridia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000526
26 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
27 biparietal narrowing 56 32 occasional (7.5%) Occasional (29-5%) HP:0004422
28 ectopic anus 56 32 occasional (7.5%) Occasional (29-5%) HP:0004397
29 camptodactyly of toe 56 32 occasional (7.5%) Occasional (29-5%) HP:0001836
30 bulbous nose 32 very rare (1%) HP:0000414
31 long face 32 very rare (1%) HP:0000276
32 round face 32 very rare (1%) HP:0000311
33 short nose 32 very rare (1%) HP:0003196
34 low posterior hairline 32 very rare (1%) HP:0002162
35 pes planus 32 very rare (1%) HP:0001763
36 blepharophimosis 32 very rare (1%) HP:0000581
37 large eyes 32 HP:0001090
38 multiple palmar creases 32 very rare (1%) HP:0006114
39 short palpebral fissure 32 HP:0012745
40 abnormality of the teeth 56 Frequent (79-30%)
41 abnormality of the dentition 32 frequent (33%) HP:0000164

Drugs & Therapeutics for Chromosome 3q29 Duplication Syndrome

Interventional clinical trials:


id 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

Genetic Tests for Chromosome 3q29 Duplication Syndrome

Anatomical Context for Chromosome 3q29 Duplication Syndrome

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

39
Eye

Publications for Chromosome 3q29 Duplication Syndrome

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

Sources for Chromosome 3q29 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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