MCID: CHR594
MIFTS: 43

Chromosome 3q29 Deletion Syndrome

Categories: Ear diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Rare diseases

Aliases & Classifications for Chromosome 3q29 Deletion Syndrome

MalaCards integrated aliases for Chromosome 3q29 Deletion Syndrome:

Name: Chromosome 3q29 Deletion Syndrome 57 25 44 72
3q29 Microdeletion Syndrome 12 75 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:



External Ids:

Disease Ontology 12 DOID:0060419
OMIM 57 609425
MeSH 44 C567184
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C2674949
Orphanet 59 ORPHA65286
MedGen 42 C2674949
UMLS 72 C2674949

Summaries for Chromosome 3q29 Deletion Syndrome

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. The features associated with 3q29 microdeletion syndrome vary widely. Some individuals with this chromosomal change have very mild or no related signs and symptoms, and the deletion is discovered through genetic testing only after a family member is diagnosed. However, most people with a 3q29 microdeletion have delayed development (particularly speech delay) and mild or moderate intellectual disability. They also have an increased risk of behavioral or psychiatric disorders, including autism spectrum disorder (which affects social interaction and communication), anxiety, bipolar disorder, and schizophrenia. Infants with 3q29 microdeletion syndrome often have feeding difficulties and do not grow and gain weight at the expected rate (which is described as failure to thrive). Weak muscle tone (hypotonia), recurrent ear infections, an unusually small head (microcephaly), and yellowing of the skin and whites of the eyes (jaundice) can also occur. Some affected babies are born with a heart defect, most commonly an abnormal connection between two major arteries called patent ductus arteriosus (PDA). Other possible features of 3q29 microdeletion syndrome include gastrointestinal disorders, such as a backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), and abnormalities of the teeth. There may also be a subtle pattern of characteristic facial features, including a long, narrow face; a narrow space between the nose and upper lip (short philtrum); a high bridge of the nose; and large ears.

MalaCards based summary : Chromosome 3q29 Deletion Syndrome, also known as 3q29 microdeletion syndrome, is related to 3q29 recurrent deletion and major affective disorder 8, 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 intellectual disability and global developmental delay

NIH Rare Diseases : 53 3q29 microdeletion syndrome is 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.

Wikipedia : 75 3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of... more...

More information 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:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 3q29 recurrent deletion 11.8
2 major affective disorder 8 10.3
3 major affective disorder 9 10.3
4 bipolar disorder 10.3
5 microcephaly 10.3
6 myeloid leukemia 10.3
7 spastic paraplegia 14, autosomal recessive 10.3 SNCA CCDC50
8 attention deficit-hyperactivity disorder 10.3
9 alacrima, achalasia, and mental retardation syndrome 10.3
10 cleft lip 10.3
11 cleft lip/palate 10.3
12 gastroesophageal reflux 10.1
13 cleft palate, isolated 10.1
14 strabismus 10.1
15 autism 10.1
16 ataxia and polyneuropathy, adult-onset 10.1
17 riddle syndrome 10.1
18 autism spectrum disorder 10.1
19 hypospadias 10.1
20 mental depression 10.1
21 constipation 10.1
22 early myoclonic encephalopathy 10.1
23 learning disability 10.1
24 mechanical strabismus 10.1
25 horseshoe kidney 10.1
26 depression 10.1
27 cleft lip with or without cleft palate 10.1
28 orofacial clefting syndrome 10.1
29 patent ductus arteriosus 1 10.0
30 dental caries 10.0
31 generalized anxiety disorder 10.0
32 deafness, autosomal dominant 44 10.0 SNCA CCDC50
33 optic atrophy 1 10.0
34 3-methylglutaconic aciduria, type iii 10.0
35 retinitis pigmentosa 11 10.0
36 personality disorder 10.0
37 ventricular septal defect 10.0
38 heart septal defect 10.0
39 chronic pain 10.0
40 type 1 diabetes mellitus 8 9.9 SLC22A3 SLC22A2
41 chromosome 3q29 duplication syndrome 9.8 TFRC SNCA BDH1
42 cerebral palsy, ataxic, autosomal recessive 9.6 SLC22A3 SLC22A2 IGF2R

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

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 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
4 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
5 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
6 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
7 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
8 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
9 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
10 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
11 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
12 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
13 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
14 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
15 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
16 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
17 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
18 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
19 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
20 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
21 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
22 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
23 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
24 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
25 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
26 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
27 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
28 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
29 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
30 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
31 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
32 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
33 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
34 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
35 dental crowding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000678
36 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
37 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
38 nasal speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001611
39 bipolar affective disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007302
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 subvalvular aortic stenosis 32 occasional (7.5%) HP:0001682
44 abnormality of the dentition 59 Occasional (29-5%)
45 stereotypy 32 HP:0000733
46 hyperactivity 32 HP:0000752
47 gait ataxia 32 HP:0002066
48 thin upper lip vermilion 32 HP:0000219
49 posteriorly rotated ears 32 HP:0000358
50 small for gestational age 32 HP:0001518

Symptoms via clinical synopsis from OMIM:

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

Skeletal Feet:
clinodactyly

Head And Neck Face:
short philtrum
long, narrow face

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

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 Behavioral Psychiatric Manifestations:
hyperactivity
autism
anxiety
psychosis
aggression

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

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 Behavioral, Molecular and Genetic 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, Eye, Kidney

Publications for Chromosome 3q29 Deletion Syndrome

Articles related to Chromosome 3q29 Deletion Syndrome:

(show all 23)
# Title Authors PMID Year
1
Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. 38 8
20830797 2010
2
3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition. 38 8
19460468 2009
3
3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs. 38 8
19610115 2009
4
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. 38 8
15918153 2005
5
3q29 Recurrent Deletion 71
27656750 2016
6
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 8
21844811 2011
7
Microdeletions of 3q29 confer high risk for schizophrenia. 8
20691406 2010
8
Familial inheritance of the 3q29 microdeletion syndrome: case report and review. 38
30885185 2019
9
A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review. 38
31338352 2019
10
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region. 38
29501613 2018
11
[Genetic analysis of two fetuses with congenital heart defects and 3q microdeletion]. 38
29653001 2018
12
Sinus pericranii and myoclonic epilepsy: novel features of 3q29 microdeletion syndrome. 38
26476657 2016
13
A clinical case report and literature review of the 3q29 microdeletion syndrome. 38
25714563 2015
14
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients. 38
24214349 2013
15
Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia. 38
21850710 2011
16
The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region. 38
21626679 2011
17
A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications. 38
20500065 2011
18
1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child. 38
20832509 2010
19
Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder. 38
20453639 2010
20
[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization]. 38
20197726 2010
21
A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb. 38
19324102 2009
22
1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities. 38
19298871 2009
23
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. 38
18471269 2008

Variations for Chromosome 3q29 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 3q29 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 21 genes:PAK2 GRCh37/hg19 3q29(chr3: 195756054-197344665)x1 copy number loss Pathogenic 3:195756054-197344665 :0-0

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 10.48 DLG3 DLG1
2
Show member pathways
10.26 SLC22A3 SLC22A2
3 9.88 SLC22A3 SLC22A2

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 basolateral plasma membrane GO:0016323 9.33 TFRC DLG3 DLG1
2 postsynaptic density membrane GO:0098839 8.96 DLG3 DLG1
3 ionotropic glutamate receptor complex GO:0008328 8.62 DLG3 DLG1

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

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.5 TFRC SNCA IGF2R
2 response to interleukin-1 GO:0070555 9.46 SNCA ETS1
3 pituitary gland development GO:0021983 9.43 HES1 ETS1
4 receptor clustering GO:0043113 9.4 DLG3 DLG1
5 drug transmembrane transport GO:0006855 9.37 SLC22A3 SLC22A2
6 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.26 DLG3 DLG1
7 receptor localization to synapse GO:0097120 9.16 DLG3 DLG1
8 organic cation transport GO:0015695 8.96 SLC22A3 SLC22A2
9 maintenance of postsynaptic density structure GO:0099562 8.62 DLG3 DLG1

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 9.32 SNCA IGF2R
2 ionotropic glutamate receptor binding GO:0035255 9.26 DLG3 DLG1
3 organic cation transmembrane transporter activity GO:0015101 8.96 SLC22A3 SLC22A2
4 sequence-specific double-stranded DNA binding GO:1990837 8.85 ETS1
5 structural constituent of postsynaptic density GO:0098919 8.62 DLG3 DLG1

Sources for Chromosome 3q29 Deletion 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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