MCID: CHR594
MIFTS: 46

Chromosome 3q29 Deletion Syndrome

Categories: Rare diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Chromosome 3q29 Deletion Syndrome

MalaCards integrated aliases for Chromosome 3q29 Deletion Syndrome:

Name: Chromosome 3q29 Deletion Syndrome 57 25 44 73
3q29 Microdeletion Syndrome 12 76 53 25 59 29 6
Chromosome 3q29 Microdeletion Syndrome 57 12 53 13 15
3q Subtelomere Deletion Syndrome 12 53 25 59
3qter Deletion 12 53 59
Monosomy 3q29 53 25 59
Microdeletion 3q29 Syndrome 57 25
3q29 Deletion Syndrome 53 25
Monosomy 3qter 53 59
Del(3)(q29) 53 59
3q29 Recurrent Deletion 25
3q29 Deletion 53

Characteristics:

Orphanet epidemiological data:

59
3q29 microdeletion syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
microdeletion is approximately 1.5mb in length


HPO:

32
chromosome 3q29 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 3q29 Deletion Syndrome

NIH Rare Diseases : 53 3q29 microdeletion syndromeis a rare chromosome disorder. Symptoms may include delay reaching some developmental milestones such as sitting, walking or talking, frequent ear and respiratory infections, and a small head size (microcephaly). Some babies with this condition are born with a cleft lip or cleft palate, and a few have been reported to have heart defects. As children with this condition get older, they may develop behavioral difficulties such as autism, and they may have symptoms of mental illness. The severity of symptoms can vary, and some people with 3q29 microdeletion syndrome may have very mild symptoms or may not even know they are affected.  3q29 microdeletion syndrome is caused by the loss of a small piece of DNA in one copy of chromosome 3, one of the 23 pairs of chromosomes in each cell in our bodies. Most cases of 3q29 microdeletion syndrome are de novo, which means the deletion was not passed down from either parent. Some cases may be inherited from a parent who is only mildly affected by the condition. Diagnosis of 3q29 microdeletion syndrome may be suspected by symptoms but is confirmed by genetic testing. Treatment is based on signs and symptoms of each person and may include surgeries to repair any physical abnormalities, speech therapy, behavior therapy and special education.

MalaCards based summary : Chromosome 3q29 Deletion Syndrome, also known as 3q29 microdeletion syndrome, is related to 3q29 recurrent deletion and spastic paraplegia 14, autosomal recessive, and has symptoms including gait ataxia An important gene associated with Chromosome 3q29 Deletion Syndrome is DEL3Q29 (Chromosome 3q29 Microdeletion Syndrome), and among its related pathways/superpathways are SALM protein interactions at the synapses and Abacavir transport and metabolism. Affiliated tissues include heart, testes and skin, and related phenotypes are macrocephaly and low-set ears

Genetics Home Reference : 25 3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a condition that results from the deletion of a small piece of chromosome 3 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q29.

Wikipedia : 76 3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of... more...

Description from OMIM: 609425

Related Diseases for Chromosome 3q29 Deletion Syndrome

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

# Related Disease Score Top Affiliating Genes
1 3q29 recurrent deletion 11.5
2 spastic paraplegia 14, autosomal recessive 10.3 CCDC50 SNCA
3 leukemia 10.1
4 myeloid leukemia 10.1
5 deafness, autosomal dominant 44 10.0 CCDC50 SNCA
6 schizophrenia 9.9
7 bipolar disorder 9.9
8 chromosome 3q29 duplication syndrome 9.7 BDH1 SNCA TFRC
9 cerebral palsy, ataxic, autosomal recessive 9.5 IGF2R SLC22A2 SLC22A3

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



Diseases related to Chromosome 3q29 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 3q29 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
large ears

Skeletal Feet:
clinodactyly

Neurologic Behavioral Psychiatric Manifestations:
autism
anxiety
psychosis
hyperactivity
aggression

Head And Neck Face:
short philtrum
long, narrow face

Head And Neck Nose:
high nasal bridge

Skeletal Hands:
long, tapered fingers

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum

Growth Other:
failure to thrive

Neurologic Central Nervous System:
gait ataxia
mental retardation, mild to moderate

Head And Neck Mouth:
thin upper lip

Growth Weight:
low birth weight

Laboratory Abnormalities:
subtelomeric deletion of long arm of chromosome 3 (3q29)


Clinical features from OMIM:

609425

Human phenotypes related to Chromosome 3q29 Deletion Syndrome:

59 32 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
4 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
5 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
8 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
9 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
13 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
14 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
15 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
16 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
17 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
18 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
19 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
20 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
21 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
22 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
23 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
24 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
25 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
26 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
27 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
28 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
29 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
30 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
31 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
32 dental crowding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000678
33 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
34 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
35 nasal speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001611
36 bipolar affective disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007302
37 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
38 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
39 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
40 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
41 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
42 six lumbar vertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0008416
43 abnormality of the dentition 59 Occasional (29-5%)
44 stereotypy 32 HP:0000733
45 gait ataxia 32 HP:0002066
46 thin upper lip vermilion 32 HP:0000219
47 hyperactivity 32 HP:0000752
48 posteriorly rotated ears 32 HP:0000358
49 small for gestational age 32 HP:0001518
50 subaortic stenosis 59 Occasional (29-5%)

UMLS symptoms related to Chromosome 3q29 Deletion Syndrome:


gait ataxia

MGI Mouse Phenotypes related to Chromosome 3q29 Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.28 DLG1 ETS1 HES1 IGF2R MPP3 RNF168

Drugs & Therapeutics for Chromosome 3q29 Deletion 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 Deletion Syndrome

Cochrane evidence based reviews: chromosome 3q29 deletion syndrome

Genetic Tests for Chromosome 3q29 Deletion Syndrome

Genetic tests related to Chromosome 3q29 Deletion Syndrome:

# Genetic test Affiliating Genes
1 3q29 Microdeletion Syndrome 29

Anatomical Context for Chromosome 3q29 Deletion Syndrome

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

41
Heart, Testes, Skin, Kidney

Publications for Chromosome 3q29 Deletion Syndrome

Articles related to Chromosome 3q29 Deletion Syndrome:

# Title Authors Year
1
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients. ( 24214349 )
2013
2
The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region. ( 21626679 )
2011
3
Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia. ( 21850710 )
2011
4
A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications. ( 20500065 )
2011
5
Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. ( 20830797 )
2010
6
Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder. ( 20453639 )
2010
7
[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization]. ( 20197726 )
2010
8
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. ( 18471269 )
2008
9
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. ( 15918153 )
2005

Variations for Chromosome 3q29 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 3q29 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 21 genes:PAK2 GRCh37/hg19 3q29(chr3: 195756054-197344665)x1 copy number loss Pathogenic GRCh37 Chromosome 3, 195756054: 197344665

Copy number variations for Chromosome 3q29 Deletion Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 173445 3 193800000 199501827 Microdeletion 3q29 microdeletion syndrome
2 173448 3 193800000 199501827 Microdeletion DLG1 3q29 microdeletion syndrome
3 173449 3 193800000 199501827 Microdeletions RNF168 3q29 microdeletion syndrome

Expression for Chromosome 3q29 Deletion Syndrome

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

Pathways for Chromosome 3q29 Deletion Syndrome

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

# Super pathways Score Top Affiliating Genes
1 10.58 DLG1 DLG3
2
Show member pathways
10.46 SLC22A2 SLC22A3
3 10.21 SLC22A2 SLC22A3
4 9.4 SLC22A2 SLC22A3

GO Terms for Chromosome 3q29 Deletion Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.63 IGF2R MELTF MPP3 SLC22A2 SLC22A3 TFRC
2 basolateral plasma membrane GO:0016323 9.43 DLG1 DLG3 TFRC
3 postsynaptic density membrane GO:0098839 8.96 DLG1 DLG3
4 ionotropic glutamate receptor complex GO:0008328 8.62 DLG1 DLG3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.63 IGF2R SNCA TFRC
2 response to interleukin-1 GO:0070555 9.54 ETS1 SNCA
3 organic anion transport GO:0015711 9.52 SLC22A2 SLC22A3
4 pituitary gland development GO:0021983 9.51 ETS1 HES1
5 drug transmembrane transport GO:0006855 9.49 SLC22A2 SLC22A3
6 receptor clustering GO:0043113 9.48 DLG1 DLG3
7 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.43 DLG1 DLG3
8 organic cation transport GO:0015695 9.4 SLC22A2 SLC22A3
9 receptor localization to synapse GO:0097120 9.37 DLG1 DLG3
10 dopamine transport GO:0015872 9.32 SLC22A2 SLC22A3
11 quaternary ammonium group transport GO:0015697 9.26 SLC22A2 SLC22A3
12 iron ion import GO:0097286 9.16 MELTF TFRC
13 GMP metabolic process GO:0046037 9.13 DLG1 DLG3 MPP3
14 GDP metabolic process GO:0046710 8.8 DLG1 DLG3 MPP3

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

# Name GO ID Score Top Affiliating Genes
1 phosphoprotein binding GO:0051219 9.48 IGF2R SNCA
2 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.46 SLC22A2 SLC22A3
3 ligand-gated ion channel activity GO:0015276 9.43 DLG1 DLG3
4 organic anion transmembrane transporter activity GO:0008514 9.4 SLC22A2 SLC22A3
5 inorganic anion exchanger activity GO:0005452 9.37 SLC22A2 SLC22A3
6 ionotropic glutamate receptor binding GO:0035255 9.32 DLG1 DLG3
7 organic cation transmembrane transporter activity GO:0015101 9.26 SLC22A2 SLC22A3
8 quaternary ammonium group transmembrane transporter activity GO:0015651 9.16 SLC22A2 SLC22A3
9 dopamine transmembrane transporter activity GO:0005329 8.96 SLC22A2 SLC22A3
10 guanylate kinase activity GO:0004385 8.8 DLG1 DLG3 MPP3

Sources for Chromosome 3q29 Deletion 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
Content
Loading form....