MCID: CHR635
MIFTS: 52

Chromosome 5q Deletion Syndrome

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Chromosome 5q Deletion Syndrome

MalaCards integrated aliases for Chromosome 5q Deletion Syndrome:

Name: Chromosome 5q Deletion Syndrome 58 12 26 15
5q- Syndrome 58 77 54 26 60 38 30 56 41
Myelodysplastic Syndrome Associated with Isolated Del Chromosome Abnormality 12 26 60
Mar 58 77 54
Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 58 13
Refractory Macrocytic Anemia Due to 5q Deletion 54 26
5q Minus Syndrome 54 26
5q- Syndrome, Refractory Macrocytic Anemia Due to 5q Deletion 12
Macrocytic Anemia, Refractory, Due to 5q Deletion; Mar 58
Myelodysplastic Syndrome with 5q Deletion Syndrome 26
Macrocytic Anemia, Refractory, Due to 5q Deletion 58
Myelodysplastic Syndrome with Isolated Del 74
Myelodysplastic Syndrome with 5q Deletion 26
Chromosome 5, Trisomy 5q 74
Chromosome 5q Deletion 54
Loss of Chromosome 5q 74
5q Deletion Syndrome 54
Partial Monosomy 5q 54
5q Syndrome 54
5q Deletion 54
5q Monosomy 54
Deletion 5q 54
Monosomy 5q 54
5q-Syndrome 74

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
somatic mutation
isolated cases

Miscellaneous:
contiguous gene deletion syndrome of 5q31
haploinsufficiency of rps14
more common in women
good prognosis


HPO:

33
chromosome 5q deletion syndrome:
Inheritance somatic mutation autosomal dominant contiguous gene syndrome sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0090016
OMIM 58 153550
KEGG 38 H01484
ICD10 via Orphanet 35 D46.7
UMLS via Orphanet 75 C0740302 C1292779
Orphanet 60 ORPHA86841
MedGen 43 C0740302

Summaries for Chromosome 5q Deletion Syndrome

Genetics Home Reference : 26 5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia). In addition, the red blood cells that are present are unusually large (macrocytic). Although many people with 5q- syndrome have no symptoms related to anemia, especially in the early stages of the condition, some affected individuals develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor) as the condition worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cell fragments involved in blood clotting. A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets.

MalaCards based summary : Chromosome 5q Deletion Syndrome, also known as 5q- syndrome, is related to myelodysplastic syndrome and deletion 5q35. An important gene associated with Chromosome 5q Deletion Syndrome is RPS14 (Ribosomal Protein S14), and among its related pathways/superpathways are Ribosome and PI3K-Akt signaling pathway. The drugs Revlimid and Lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and neutrophil, and related phenotypes are myelodysplasia and refractory macrocytic anemia

Disease Ontology : 12 A chromosome deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has material basis in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q.

NIH Rare Diseases : 54 Chromosome 5q 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 5. 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 5q deletion include developmental delay, intellectual disability, behavioral problems, 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.

OMIM : 58 The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008). (153550)

Wikipedia : 77 Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of... more...

Related Diseases for Chromosome 5q Deletion Syndrome

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



Diseases related to Chromosome 5q Deletion Syndrome

Symptoms & Phenotypes for Chromosome 5q Deletion Syndrome

Human phenotypes related to Chromosome 5q Deletion Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 myelodysplasia 33 HP:0002863
2 refractory macrocytic anemia 33 HP:0004861
3 erythroid hypoplasia 33 HP:0012133
4 abnormal megakaryocyte morphology 33 HP:0012143

Symptoms via clinical synopsis from OMIM:

58
Hematology:
myelodysplastic syndrome
macrocytic anemia, refractory
normal or increased platelet count
erythroid hypoplasia in the bone marrow
ineffective erythropoiesis
more

Clinical features from OMIM:

153550

MGI Mouse Phenotypes related to Chromosome 5q Deletion Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 CSF1R EPO F2R HSPA4 RPS14
2 hematopoietic system MP:0005397 9.55 CSF1R EPO F2R HSPA9 RPS14
3 immune system MP:0005387 9.35 CSF1R EPO F2R HSPA9 RPS14
4 mortality/aging MP:0010768 9.1 CSF1R EPO F2R HSPA4 HSPA9 RPS14

Drugs & Therapeutics for Chromosome 5q Deletion Syndrome

FDA approved drugs:

# Drug Name Active Ingredient(s) 19 Company Approval Date
1
Revlimid 19 50 LENALIDOMIDE Celgene June 2013

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2
leucovorin Approved Phase 2 58-05-9 143 6006
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
4 leucine Phase 2
5 Angiogenesis Modulating Agents Phase 2
6 Angiogenesis Inhibitors Phase 2
7 Immunologic Factors Phase 2
8 Vitamin B Complex Phase 2
9 Folate Phase 2
10 Vitamin B9 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
3 Leucovorin for the Treatment of 5 q Minus Syndrome Completed NCT00004997 Phase 2 Leucovorin

Search NIH Clinical Center for Chromosome 5q Deletion Syndrome

Genetic Tests for Chromosome 5q Deletion Syndrome

Genetic tests related to Chromosome 5q Deletion Syndrome:

# Genetic test Affiliating Genes
1 5q- Syndrome 30 RPS14

Anatomical Context for Chromosome 5q Deletion Syndrome

MalaCards organs/tissues related to Chromosome 5q Deletion Syndrome:

42
Bone, Bone Marrow, Neutrophil, Myeloid, T Cells, Monocytes, Nk Cells

Publications for Chromosome 5q Deletion Syndrome

Articles related to Chromosome 5q Deletion Syndrome:

(show top 50) (show all 113)
# Title Authors Year
1
Rps14, Csnk1a1 and miRNA145/miRNA146a deficiency cooperate in the clinical phenotype and activation of the innate immune system in the 5q- syndrome. ( 30651631 )
2019
2
Lenalidomide induced durable remission in a patient with MDS/MPN-with ring sideroblasts and thrombocytosis with associated 5q- syndrome. ( 30186759 )
2018
3
Utility of a Fluorescence Microscopy Imaging System for Analyzing the DNA Ploidy of Pathological Megakaryocytes Including 5q- Syndrome. ( 29926002 )
2018
4
5q- syndrome-like features as the first manifestation of myelodysplastic syndrome in a patient with an unbalanced whole-arm translocation der(5;19)(p10;q10). ( 27914067 )
2017
5
Long-Term Maintenance of Hematological and Cytogenetic Remission in 5q- Syndrome After Short-Term Administration of Lenalidomide. ( 28824257 )
2017
6
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. ( 27556864 )
2016
7
A Zebrafish Model of 5q-Syndrome Using CRISPR/Cas9 Targeting RPS14 Reveals a p53-Independent and p53-Dependent Mechanism of Erythroid Failure. ( 27216296 )
2016
8
Van den Berghe's 5q- syndrome and myelodysplastic syndrome with isolated del(5q). ( 26670407 )
2015
9
Recent Advances in the 5q- Syndrome. ( 26075044 )
2015
10
A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome. ( 26682279 )
2015
11
Erythroid but not cytogenetic response in a case with 5q- syndrome: a delayed effect of lenalidomide or a consequence of deferasirox treatment? ( 23952245 )
2014
12
Long-term hematological response in a patient with 5q- syndrome after suspension of lenalidomide therapy and further improvement with deferasirox therapy. ( 25025016 )
2014
13
L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way. ( 25098371 )
2014
14
Dramatic response in the dependency to transfusion after low doses of lenalidomide treatment in a 5q-syndrome patient: a case report. ( 28058331 )
2014
15
Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia. ( 22965552 )
2013
16
Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies. ( 23031788 )
2013
17
Activation of the mTOR signaling pathway by L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts. ( 23337929 )
2013
18
5q- syndrome and multiple myeloma diagnosed simultaneously and successful treated with lenalidomide. ( 23891188 )
2013
19
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. ( 23943650 )
2013
20
Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome. ( 21930148 )
2012
21
Effects of L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts. ( 22430631 )
2012
22
5q- syndrome. ( 22571696 )
2012
23
Acquired EVI1 rearrangement involved in the transformation from 5q- syndrome to pre-B lymphocytic leukemia in a Chinese patient. ( 23054648 )
2012
24
Important genes in the pathogenesis of 5q- syndrome and their connection with ribosomal stress and the innate immune system pathway. ( 23213547 )
2012
25
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. ( 21435510 )
2011
26
Differential expression of microRNAs in CD34+ cells of 5q- syndrome. ( 21211043 )
2011
27
Biology and treatment of the 5q- syndrome. ( 21322779 )
2011
28
Unexpected erythroid and cytogenetic responses after discontinuation of a short course of lenalidomide as a result of severe skin rash in a patient with 5q syndrome. ( 21357784 )
2011
29
Transformation of the 5q- syndrome to acute lymphoblastic leukemia: a report of two cases and review of the literature. ( 21487529 )
2011
30
5q-syndrome in Japan. ( 21567163 )
2011
31
Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome. ( 21873545 )
2011
32
The 5q- syndrome: biology and treatment. ( 21964863 )
2011
33
The role of haploinsufficiency of RPS14 and p53 activation in the molecular pathogenesis of the 5q- syndrome. ( 22053272 )
2011
34
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. ( 19966810 )
2010
35
Cytogenetic features of 5q deletion and 5q- syndrome in myelodysplastic syndrome in Korea; marker chromosomes proved to be chromosome 5 with interstitial deletion by fluorescence in situ hybridization. ( 21156233 )
2010
36
Refractory anaemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) with superimposed 5q-syndrome. ( 20924996 )
2010
37
Treatment of 5q-syndrome with lenalidomide in an HIV-positive patient under cART. ( 19705117 )
2010
38
Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype. ( 19898489 )
2010
39
Induction of p53 and up-regulation of the p53 pathway in the human 5q- syndrome. ( 20360478 )
2010
40
Closing in on the pathogenesis of the 5q- syndrome. ( 20469997 )
2010
41
Advances in the 5q- syndrome. ( 20733155 )
2010
42
New insights into 5q- syndrome as a ribosomopathy. ( 20980806 )
2010
43
Van-den Berghe's 5q- syndrome in 2008. ( 19016715 )
2009
44
Both expanded and uncultured mesenchymal stem cells from MDS patients are genomically abnormal, showing a specific genetic profile for the 5q- syndrome. ( 19151777 )
2009
45
JAK2 V617F mutation is associated with 5q- syndrome in Chinese. ( 19562618 )
2009
46
Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression. ( 19797731 )
2009
47
Myelodysplastic syndrome with isolated 5q deletion (5q- syndrome). A clonal stem cell disorder characterized by defective ribosome biogenesis. ( 18591621 )
2008
48
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. ( 18202658 )
2008
49
The 5q- syndrome. ( 18283785 )
2008
50
Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes. ( 18477045 )
2008

Variations for Chromosome 5q Deletion Syndrome

Copy number variations for Chromosome 5q Deletion Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 200027 5 48400000 180915260 Distal deletion 5q-syndrome

Expression for Chromosome 5q Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 5q Deletion Syndrome.

Pathways for Chromosome 5q Deletion Syndrome

Pathways related to Chromosome 5q Deletion Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Ribosome hsa03010

GO Terms for Chromosome 5q Deletion Syndrome

Cellular components related to Chromosome 5q Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.8 CSF1R EPO F2R

Biological processes related to Chromosome 5q Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.58 CSF1R EPO HSPA9
2 positive regulation of cell proliferation GO:0008284 9.54 CSF1R EPO F2R
3 positive regulation of MAPK cascade GO:0043410 9.43 CSF1R F2R
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.33 CSF1R EPO F2R
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.32 CSF1R EPO
6 response to unfolded protein GO:0006986 9.26 HSPA4 HSPA9
7 cell-cell junction maintenance GO:0045217 8.96 CSF1R F2R
8 erythrocyte differentiation GO:0030218 8.8 EPO HSPA9 RPS14

Sources for Chromosome 5q Deletion Syndrome

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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