Aliases & Classifications for 3p Deletion Syndrome

MalaCards integrated aliases for 3p Deletion Syndrome:

Name: 3p Deletion Syndrome 25
Chromosome 3, Monosomy 3p 25 29
Chromosome 3p Deletion Syndrome 25
3p Partial Monosomy Syndrome 25
Chromosome 3, Deletion 3p 25
Partial Monosomy 3p 25
Del Syndrome 25
3p- Syndrome 25
Deletion 3p 25
Monosomy 3p 25

Summaries for 3p Deletion Syndrome

Genetics Home Reference : 25 3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. The deletion occurs at the end of the short (p) arm of the chromosome. This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features. Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. Most have delayed development of language skills as well as motor skills such as crawling and walking. While affected individuals learn to walk in childhood, their language ability usually remains limited. Some individuals with 3p deletion syndrome have obsessive-compulsive disorder (OCD) or features of autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. The physical signs and symptoms of 3p deletion syndrome vary greatly. Many affected individuals have slow growth, an abnormally small head (microcephaly), a small jaw (micrognathia), droopy eyelids (ptosis), malformed ears or nose, and widely spaced eyes (hypertelorism). Other frequent features include skin folds covering the inner corner of the eyes (epicanthal folds), extra fingers or toes (polydactyly), and an opening in the roof of the mouth (cleft palate). Additionally, individuals with 3p deletion syndrome may have seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects.

MalaCards based summary : 3p Deletion Syndrome, also known as chromosome 3, monosomy 3p, is related to chromosome 3pter-p25 deletion syndrome and partial deletion of the short arm of chromosome 3, and has symptoms including muscle spasticity An important gene associated with 3p Deletion Syndrome is CNTN4 (Contactin 4). Affiliated tissues include heart, eye and skin, and related phenotype is Increased G2M DNA content, increased 8N DNA content.

Related Diseases for 3p Deletion Syndrome

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 chromosome 3pter-p25 deletion syndrome 31.4 SRGAP3 CNTN4
2 partial deletion of the short arm of chromosome 3 11.5
3 intellectual developmental disorder with dysmorphic facies and ptosis 11.4
4 ohdo syndrome 11.2
5 wolf-hirschhorn syndrome 11.0
6 distal chromosome 18q deletion syndrome 11.0
7 proximal chromosome 18q deletion syndrome 11.0
8 chromosome 16q duplication 10.2
9 microcephaly 10.1
10 chromosome 3p duplication 10.1
11 pectus excavatum 10.1
12 uvula, bifid 10.1
13 cryptorchidism, unilateral or bilateral 10.1
14 scoliosis 10.1
15 inguinal hernia 10.1
16 anterior segment dysgenesis 10.1
17 atrial heart septal defect 10.1
18 craniosynostosis 10.1
19 hypertrichosis 10.1
20 chromosome 10q duplication 10.1
21 chromosome 2p duplication 10.1
22 chromosome 5q duplication 10.1
23 trisomy 1q 10.1
24 peripheral pulmonary stenosis 10.1
25 telecanthus 9.9
26 cleft palate, isolated 9.9
27 hypertelorism 9.9
28 tetralogy of fallot 9.9
29 velocardiofacial syndrome 9.9
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
31 ptosis 9.9
32 sensorineural hearing loss 9.9
33 clubfoot 9.9
34 hemangioblastoma 9.9
35 cleft lip 9.9
36 chromosomal triplication 9.9
37 hypotonia 9.9
38 renal cell carcinoma, nonpapillary 9.8
39 small cell cancer of the lung 9.8
40 adenocarcinoma 9.8
41 epicanthus 9.8
42 congenital anomalies of kidney and urinary tract 2 9.8
43 branchiootic syndrome 1 9.8
44 atrioventricular septal defect 9.8
45 atrioventricular septal defect 2 9.8
46 patent ductus arteriosus 1 9.8
47 pulmonary hypertension 9.8
48 hydronephrosis 9.8
49 heart septal defect 9.8
50 cleft lip/palate 9.8

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



Diseases related to 3p Deletion Syndrome

Symptoms & Phenotypes for 3p Deletion Syndrome

UMLS symptoms related to 3p Deletion Syndrome:


muscle spasticity

GenomeRNAi Phenotypes related to 3p Deletion Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 8.62 CNTN4 SRGAP3

Drugs & Therapeutics for 3p Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for 3p Deletion Syndrome

Genetic Tests for 3p Deletion Syndrome

Genetic tests related to 3p Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 3, Monosomy 3p 29

Anatomical Context for 3p Deletion Syndrome

MalaCards organs/tissues related to 3p Deletion Syndrome:

40
Heart, Eye, Skin, Kidney, Lung

Publications for 3p Deletion Syndrome

Articles related to 3p Deletion Syndrome:

(show all 22)
# Title Authors PMID Year
1
Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases. 61
31852928 2019
2
A case of 3p deletion syndrome associated with cerebellar hemangioblastoma. 61
26365017 2016
3
Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review. 61
27077748 2016
4
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. 61
26554554 2015
5
Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome. 61
25720458 2014
6
Interstitial 3p25 deletion in a patient with features of 3p deletion syndrome: further evidence for the role of SRGAP3 in mental retardation. 61
24300292 2014
7
3p deletion syndrome. 61
24036645 2013
8
Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region. 61
23613140 2013
9
3p deletion syndrome: implications for cochlear implantation. 61
22449389 2012
10
Microdeletion on 3p25 in a patient with features of 3p deletion syndrome. 61
22903836 2012
11
Disruption of Contactin 4 in two subjects with autism in Chinese population. 61
22750301 2012
12
Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome. 61
20949503 2010
13
Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype. 61
20101686 2010
14
Molecular characterization of a patient with 3p deletion syndrome and a review of the literature. 61
18837054 2008
15
Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 61
18551756 2008
16
Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. 61
17696125 2007
17
Interstitial deletion of a proximal 3p: a clinically recognisable syndrome. 61
17125947 2007
18
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 61
15106122 2004
19
A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter). 61
10434122 1999
20
The probe BMS1271 identifies a new polymorphic locus (D3S1207) and maps to 3p26-pter. 61
8095447 1993
21
Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2). 61
3137147 1988
22
Interstitial deletion of chromosome 3p: report of a patient and delineation of a proximal 3p deletion syndrome. 61
6496569 1984

Variations for 3p Deletion Syndrome

Expression for 3p Deletion Syndrome

Search GEO for disease gene expression data for 3p Deletion Syndrome.

Pathways for 3p Deletion Syndrome

GO Terms for 3p Deletion Syndrome

Sources for 3p Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....