MCID: CHR254
MIFTS: 16

Chromosome 5q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 5q Duplication

MalaCards integrated aliases for Chromosome 5q Duplication:

Name: Chromosome 5q Duplication 54
Chromosome 5, Trisomy 5q 74
Partial Trisomy 5q 54
Duplication 5q 54
Trisomy 5q 54

Classifications:



External Ids:

UMLS 74 C1802398

Summaries for Chromosome 5q Duplication

NIH Rare Diseases : 54 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. The drugs Lenalidomide and leucine have been mentioned in the context of this disorder. 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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 distal trisomy 5q 11.4
2 cri-du-chat syndrome 10.2
3 chromosomal triplication 10.2
4 down syndrome 10.0
5 heart disease 10.0
6 microcephaly 10.0
7 aortic coarctation 10.0
8 chromosome 3p deletion 10.0
9 xq12-q13.3 duplication syndrome 10.0
10 hypoparathyroidism 9.9
11 chromosome 5q deletion syndrome 9.9
12 hypothyroidism 9.9
13 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

Drugs for Chromosome 5q Duplication (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2 leucine Phase 2
3 Angiogenesis Modulating Agents Phase 2
4 Angiogenesis Inhibitors Phase 2
5 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
2 The Efficacy and Safety of Lenalidomide Monotherapy in Red Blood Cell Transfusion Dependent Subjects With Myelodysplastic Syndrome (MDS) Associated With Del (5q) Abnormality Completed NCT00874978 Phase 2 lenalidomide

Search 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:

42
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
An unusual combination of trisomy 21 and partial trisomy 5q. ( 1299243 )
1992
5
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 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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