MCID: CHR254
MIFTS: 13

Chromosome 5q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 5q Duplication

MalaCards integrated aliases for Chromosome 5q Duplication:

Name: Chromosome 5q Duplication 53
Chromosome 5, Trisomy 5q 73
Partial Trisomy 5q 53
Duplication 5q 53
Trisomy 5q 53

Classifications:



External Ids:

UMLS 73 C1802398

Summaries for Chromosome 5q Duplication

NIH Rare Diseases : 53 Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 5q Duplication, also known as chromosome 5, trisomy 5q, is related to distal trisomy 5q and cri-du-chat syndrome. Affiliated tissues include heart.

Related Diseases for Chromosome 5q Duplication

Diseases related to Chromosome 5q Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 distal trisomy 5q 11.4
2 cri-du-chat syndrome 10.0
3 microcephaly 10.0
4 heart disease 10.0
5 aortic coarctation 10.0
6 chromosome 3p deletion 10.0
7 hypoparathyroidism 9.9
8 chromosome 5q deletion syndrome 9.9
9 hypothyroidism 9.9
10 hunter-mcalpine syndrome 9.9

Graphical network of the top 20 diseases related to Chromosome 5q Duplication:



Diseases related to Chromosome 5q Duplication

Symptoms & Phenotypes for Chromosome 5q Duplication

Drugs & Therapeutics for Chromosome 5q Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 5q Duplication

Genetic Tests for Chromosome 5q Duplication

Anatomical Context for Chromosome 5q Duplication

MalaCards organs/tissues related to Chromosome 5q Duplication:

41
Heart

Publications for Chromosome 5q Duplication

Articles related to Chromosome 5q Duplication:

# Title Authors Year
1
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
2
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. ( 16770806 )
2006
3
Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5. ( 8260723 )
1993
4
Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1). ( 2671452 )
1989

Variations for Chromosome 5q Duplication

Expression for Chromosome 5q Duplication

Search GEO for disease gene expression data for Chromosome 5q Duplication.

Pathways for Chromosome 5q Duplication

GO Terms for Chromosome 5q Duplication

Sources for Chromosome 5q Duplication

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
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