MCID: CHR594
MIFTS: 28

Chromosome 3q29 Deletion Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Chromosome 3q29 Deletion Syndrome

MalaCards integrated aliases for Chromosome 3q29 Deletion Syndrome:

Name: Chromosome 3q29 Deletion Syndrome 54 25 69
3q29 Microdeletion Syndrome 50 25 56 29
3q Subtelomere Deletion Syndrome 50 25 56
Monosomy 3q29 50 25 56
3q29 Deletion Syndrome 50 25
3qter Deletion 50 56
Monosomy 3qter 50 56
Del(3)(q29) 50 56
Chromosome 3q29 Microdeletion Syndrome 50
Microdeletion 3q29 Syndrome 25
3q29 Recurrent Deletion 25
3q29 Deletion 50

Characteristics:

Orphanet epidemiological data:

56
3q29 microdeletion syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 50 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. last updated: 9/23/2016

MalaCards based summary : Chromosome 3q29 Deletion Syndrome, also known as 3q29 microdeletion syndrome, is related to 3q29 recurrent deletion and chromosome 3q29 microdeletion syndrome, and has symptoms including failure to thrive, microcephaly and long face. Affiliated tissues include testes, heart and kidney.

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.

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:

id Related Disease Score Top Affiliating Genes
1 3q29 recurrent deletion 11.1
2 chromosome 3q29 microdeletion syndrome 11.1
3 leukemia 10.1
4 myeloid leukemia 10.1

Symptoms & Phenotypes for Chromosome 3q29 Deletion Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Head And Neck- Nose:
high nasal bridge

Head And Neck- Face:
short philtrum
long, narrow face

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
autism
aggression
psychosis
anxiety

Growth- Weight:
low birth weight

Skeletal- Hands:
long, tapered fingers

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

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

Head And Neck- Mouth:
thin upper lip

Skeletal- Feet:
clinodactyly

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

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


Clinical features from OMIM:

609425

Human phenotypes related to Chromosome 3q29 Deletion Syndrome:

56 32 (show top 50) (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 occasional (7.5%) Occasional (29-5%) HP:0001508
2 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
3 long face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000276
4 low-set ears 56 32 frequent (33%) Frequent (79-30%) HP:0000369
5 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
6 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
7 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
8 short nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0003196
9 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 pectus carinatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000768
11 gastroesophageal reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0002020
12 short philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000322
13 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
14 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
15 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
16 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
17 aggressive behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0000718
18 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
19 horseshoe kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000085
20 psychosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000709
21 narrow face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000275
22 downslanted palpebral fissures 56 32 occasional (7.5%) Occasional (29-5%) HP:0000494
23 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
24 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
25 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
26 nasal speech 56 32 occasional (7.5%) Occasional (29-5%) HP:0001611
27 subaortic stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001682
28 anxiety 56 32 occasional (7.5%) Occasional (29-5%) HP:0000739
29 prominent nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000426
30 gait disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0001288
31 dental crowding 56 32 occasional (7.5%) Occasional (29-5%) HP:0000678
32 delayed speech and language development 56 32 frequent (33%) Frequent (79-30%) HP:0000750
33 attention deficit hyperactivity disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0007018
34 macrotia 56 32 frequent (33%) Frequent (79-30%) HP:0000400
35 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000232
36 six lumbar vertebrae 56 32 occasional (7.5%) Occasional (29-5%) HP:0008416
37 bipolar affective disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0007302
38 oral cleft 56 32 occasional (7.5%) Occasional (29-5%) HP:0000202
39 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
40 abnormality of skin pigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001000
41 tapered finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0001182
42 posteriorly rotated ears 32 HP:0000358
43 depression 56 Occasional (29-5%)
44 hyperactivity 32 HP:0000752
45 gait ataxia 32 HP:0002066
46 pulmonary hypertension 56 Occasional (29-5%)
47 small for gestational age 32 HP:0001518
48 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
49 thin upper lip vermilion 32 HP:0000219
50 abnormality of the teeth 56 Occasional (29-5%)

UMLS symptoms related to Chromosome 3q29 Deletion Syndrome:


gait ataxia

Drugs & Therapeutics for Chromosome 3q29 Deletion 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 Deletion Syndrome

Genetic Tests for Chromosome 3q29 Deletion Syndrome

Genetic tests related to Chromosome 3q29 Deletion Syndrome:

id 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:

39
Testes, Heart, Kidney, Skin

Publications for Chromosome 3q29 Deletion Syndrome

Variations for Chromosome 3q29 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 3q29 Deletion Syndrome:

6
id 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
id 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

GO Terms for Chromosome 3q29 Deletion Syndrome

Sources for Chromosome 3q29 Deletion 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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