MCID: CHR243
MIFTS: 21

Chromosome 3p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 3p Deletion

MalaCards integrated aliases for Chromosome 3p Deletion:

Name: Chromosome 3p Deletion 54
Chromosome 3, Monosomy 3p 26 30 74
Partial Monosomy 3p 54 26
Deletion 3p 54 26
Monosomy 3p 54 26
Chromosome 3p Deletion Syndrome 26
3p Partial Monosomy Syndrome 26
Chromosome 3, Deletion 3p 26
3p Deletion Syndrome 26
Del Syndrome 26
3p- Syndrome 26
3p Deletion 54
3p Monosomy 54

Classifications:



External Ids:

UMLS 74 C0795806

Summaries for Chromosome 3p Deletion

NIH Rare Diseases : 54 Chromosome 3p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 3 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 3p Deletion, also known as chromosome 3, monosomy 3p, is related to chromosome 3p- syndrome and chromosome 3pter-p25 deletion syndrome, and has symptoms including muscle spasticity An important gene associated with Chromosome 3p Deletion is RARB (Retinoic Acid Receptor Beta). Affiliated tissues include lung, heart and breast.

Genetics Home Reference : 26 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.

Related Diseases for Chromosome 3p Deletion

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



Diseases related to Chromosome 3p Deletion

Symptoms & Phenotypes for Chromosome 3p Deletion

UMLS symptoms related to Chromosome 3p Deletion:


muscle spasticity

Drugs & Therapeutics for Chromosome 3p Deletion

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

Genetic Tests for Chromosome 3p Deletion

Genetic tests related to Chromosome 3p Deletion:

# Genetic test Affiliating Genes
1 Chromosome 3, Monosomy 3p 30

Anatomical Context for Chromosome 3p Deletion

MalaCards organs/tissues related to Chromosome 3p Deletion:

42
Lung, Heart, Breast

Publications for Chromosome 3p Deletion

Articles related to Chromosome 3p Deletion:

# Title Authors Year
1
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter). ( 27125417 )
2016
2
Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p. ( 23084388 )
2012
3
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay. ( 23072190 )
2012
4
[Microsatellite instability and allele-specific chromosome 3p deletion in breast cancer and precancerous lesions]. ( 17575691 )
2007
5
Differential effects of chromosome 3p deletion on the expression of the putative tumor suppressor RAR beta and on retinoid resistance in human squamous carcinoma cells. ( 11687961 )
2001
6
High frequency of chromosome 3p deletion in histologically normal nasopharyngeal epithelia from southern Chinese. ( 11034072 )
2000
7
[Allele-specific chromosome 3p deletion in primary non-small cell lung cancer.]. ( 20937206 )
2000
8
Chromosome 3p deletion in a renal cell carcinoma cell line established from a patient with von Hippel-Lindau disease. ( 8105119 )
1993
9
Consistent chromosome 3p deletion and loss of heterozygosity in renal cell carcinoma. ( 2894030 )
1988
10
Three children with partial trisomy 1q and partial monosomy 3p. ( 3783626 )
1986

Variations for Chromosome 3p Deletion

Expression for Chromosome 3p Deletion

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

Pathways for Chromosome 3p Deletion

GO Terms for Chromosome 3p Deletion

Sources for Chromosome 3p Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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