MCID: CHR257
MIFTS: 18

Chromosome 6q Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 6q Deletion

MalaCards integrated aliases for Chromosome 6q Deletion:

Name: Chromosome 6q Deletion 53
Chromosome 6, Monosomy 6q 73
Partial Monosomy 6q 53
6q Deletion 53
6q Monosomy 53
Deletion 6q 53
Monosomy 6q 53

Classifications:



External Ids:

UMLS 73 C0795816

Summaries for Chromosome 6q Deletion

NIH Rare Diseases : 53 Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but 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 6q Deletion, also known as chromosome 6, monosomy 6q, is related to leukemia and hydrocephalus. An important gene associated with Chromosome 6q Deletion is FOXO3 (Forkhead Box O3). The drugs Cyclophosphamide and Vidarabine have been mentioned in the context of this disorder. Affiliated tissues include heart, nk cells and prostate.

Related Diseases for Chromosome 6q Deletion

Graphical network of the top 20 diseases related to Chromosome 6q Deletion:



Diseases related to Chromosome 6q Deletion

Symptoms & Phenotypes for Chromosome 6q Deletion

Drugs & Therapeutics for Chromosome 6q Deletion

Drugs for Chromosome 6q Deletion (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
2
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
3
rituximab Approved Phase 2 174722-31-7 10201696
4
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
5 Immunosuppressive Agents Phase 2
6 Antineoplastic Agents, Alkylating Phase 2
7 Antimetabolites, Antineoplastic Phase 2
8 Alkylating Agents Phase 2
9 Immunologic Factors Phase 2
10 Antiviral Agents Phase 2
11 Antirheumatic Agents Phase 2
12 Anti-Infective Agents Phase 2
13 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Assess the Efficacy of Rituximab (MabThera) in First Line Treatment of Chronic Lymphocytic Leukemia (CLL) Completed NCT00545714 Phase 2 Cyclophosphamide;Fludarabine;Rituximab

Search NIH Clinical Center for Chromosome 6q Deletion

Genetic Tests for Chromosome 6q Deletion

Anatomical Context for Chromosome 6q Deletion

MalaCards organs/tissues related to Chromosome 6q Deletion:

41
Heart, Nk Cells, Prostate, T Cells, B Cells

Publications for Chromosome 6q Deletion

Articles related to Chromosome 6q Deletion:

# Title Authors Year
1
Gene Expression Profile Signature of Aggressive Waldenström Macroglobulinemia with Chromosome 6q Deletion. ( 30402490 )
2018
2
Chromosome 6q deletion correlates with poor prognosis and low relative expression of FOXO3 in chronic lymphocytic leukemia patients. ( 28699185 )
2017
3
Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report. ( 22754239 )
2012
4
Analysis of chromosome 6q deletion in EBV-associated NK cell leukaemia/lymphoma. ( 11999560 )
2002
5
Clinical features of Ehlers-Danlos syndrome type VII in chromosome 6q deletion. ( 10721841 )
2000
6
Cutaneous and joint laxity in chromosome 6q deletion. ( 7971571 )
1994
7
Chromosome 6q deletion and retinal cone dystrophy. ( 2012125 )
1991

Variations for Chromosome 6q Deletion

Expression for Chromosome 6q Deletion

Search GEO for disease gene expression data for Chromosome 6q Deletion.

Pathways for Chromosome 6q Deletion

GO Terms for Chromosome 6q Deletion

Sources for Chromosome 6q Deletion

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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