MCID: CHR257
MIFTS: 21

Chromosome 6q Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 6q Deletion

MalaCards integrated aliases for Chromosome 6q Deletion:

Name: Chromosome 6q Deletion 54
Chromosome 6, Monosomy 6q 74
Partial Monosomy 6q 54
6q Deletion 54
6q Monosomy 54
Deletion 6q 54
Monosomy 6q 54

Classifications:



External Ids:

UMLS 74 C0795816

Summaries for Chromosome 6q Deletion

NIH Rare Diseases : 54 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 hydrocephalus and 1q duplications. An important gene associated with Chromosome 6q Deletion is FOXO3 (Forkhead Box O3). The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include heart and nk cells.

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

42
Heart, Nk 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 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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