MCID: CHR635
MIFTS: 52

Chromosome 5q Deletion Syndrome

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

Aliases & Classifications for Chromosome 5q Deletion Syndrome

MalaCards integrated aliases for Chromosome 5q Deletion Syndrome:

Name: Chromosome 5q Deletion Syndrome 57 12 25 15
5q- Syndrome 57 76 53 25 59 37 29 55 40
Myelodysplastic Syndrome Associated with Isolated Del Chromosome Abnormality 12 25 59
Mar 57 76 53
Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 57 13
Refractory Macrocytic Anemia Due to 5q Deletion 53 25
5q Minus Syndrome 53 25
5q- Syndrome, Refractory Macrocytic Anemia Due to 5q Deletion 12
Macrocytic Anemia, Refractory, Due to 5q Deletion; Mar 57
Myelodysplastic Syndrome with 5q Deletion Syndrome 25
Macrocytic Anemia, Refractory, Due to 5q Deletion 57
Myelodysplastic Syndrome with Isolated Del 73
Myelodysplastic Syndrome with 5q Deletion 25
Chromosome 5, Trisomy 5q 73
Chromosome 5q Deletion 53
Loss of Chromosome 5q 73
5q Deletion Syndrome 53
Partial Monosomy 5q 53
5q Syndrome 53
5q Deletion 53
5q Monosomy 53
Deletion 5q 53
Monosomy 5q 53
5q-Syndrome 73

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
somatic mutation
isolated cases

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


HPO:

32
chromosome 5q deletion syndrome:
Inheritance somatic mutation autosomal dominant contiguous gene syndrome sporadic


Classifications:



External Ids:

OMIM 57 153550
Disease Ontology 12 DOID:0090016
Orphanet 59 ORPHA86841
ICD10 via Orphanet 34 D46.7
UMLS via Orphanet 74 C1292779 C0740302
MedGen 42 C0740302
KEGG 37 H01484

Summaries for Chromosome 5q Deletion Syndrome

Genetics Home Reference : 25 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 refractory anemia and myelodysplastic syndrome. An important gene associated with Chromosome 5q Deletion Syndrome is RPS14 (Ribosomal Protein S14), and among its related pathways/superpathways are Ribosome and Pathways in cancer. The drugs Lenalidomide and Folic Acid 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

OMIM : 57 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)

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 Chromosome 5q deletion syndrome (chromosome 5q monosomy, 5q- syndrome) is an acquired, hematological... more...

Related Diseases for Chromosome 5q Deletion Syndrome

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 refractory anemia 28.5 EPO TET2
2 myelodysplastic syndrome 27.5 CSF1R EPO RPS14 TET2
3 deletion 5q35 11.4
4 chromosome 5q14.3 deletion syndrome, distal 11.3
5 diamond-blackfan anemia 9.9
6 leukemia 9.9
7 myeloma, multiple 9.8
8 leukemia, acute myeloid 9.8
9 myeloid leukemia 9.8
10 shwachman-diamond syndrome 1 9.6
11 leukemia, acute lymphoblastic 9.6
12 thrombocytopenia 9.6
13 lymphoblastic leukemia 9.6
14 pancytopenia 9.6
15 macrocytic anemia 9.6
16 purpura 9.6
17 refractory anemia with excess blasts 9.6
18 folic acid deficiency anemia 9.3 EPO TET2
19 thrombocytosis 9.1 EPO TET2
20 polycythemia 8.9 EPO TET2

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chromosome 5q Deletion Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 myelodysplasia 32 HP:0002863
2 refractory macrocytic anemia 32 HP:0004861
3 erythroid hypoplasia 32 HP:0012133
4 abnormal megakaryocyte morphology 32 HP:0012143

MGI Mouse Phenotypes related to Chromosome 5q Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 CSF1R EPO F2R HSPA4 RPS14 TET2
2 hematopoietic system MP:0005397 9.63 EPO F2R HSPA9 RPS14 TET2 CSF1R
3 immune system MP:0005387 9.43 CSF1R EPO F2R HSPA9 RPS14 TET2
4 mortality/aging MP:0010768 9.17 CSF1R EPO F2R HSPA4 HSPA9 RPS14

Drugs & Therapeutics for Chromosome 5q Deletion Syndrome

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
3
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
4 Angiogenesis Inhibitors Phase 2
5 Angiogenesis Modulating Agents Phase 2
6 Anti-Bacterial Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Immunosuppressive Agents Phase 2
9 Vitamin B Complex Phase 2
10 leucine Nutraceutical Phase 2
11 Folate Nutraceutical Phase 2
12 Vitamin B9 Nutraceutical 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 Unknown status 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 29 RPS14

Anatomical Context for Chromosome 5q Deletion Syndrome

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

41
Bone, Bone Marrow, Neutrophil, Myeloid, Skin, B Cells

Publications for Chromosome 5q Deletion Syndrome

Articles related to Chromosome 5q Deletion Syndrome:

(show top 50) (show all 84)
# Title Authors Year
1
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. ( 27556864 )
2016
2
L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way. ( 25098371 )
2014
3
Long-term hematological response in a patient with 5q- syndrome after suspension of lenalidomide therapy and further improvement with deferasirox therapy. ( 25025016 )
2014
4
Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia. ( 22965552 )
2013
5
Activation of the mTOR signaling pathway by L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts. ( 23337929 )
2013
6
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. ( 23943650 )
2013
7
5q- syndrome and multiple myeloma diagnosed simultaneously and successful treated with lenalidomide. ( 23891188 )
2013
8
Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies. ( 23031788 )
2013
9
Important genes in the pathogenesis of 5q- syndrome and their connection with ribosomal stress and the innate immune system pathway. ( 23213547 )
2012
10
Acquired EVI1 rearrangement involved in the transformation from 5q- syndrome to pre-B lymphocytic leukemia in a Chinese patient. ( 23054648 )
2012
11
Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome. ( 21930148 )
2012
12
Effects of L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts. ( 22430631 )
2012
13
5q- syndrome. ( 22571696 )
2012
14
Biology and treatment of the 5q- syndrome. ( 21322779 )
2011
15
Differential expression of microRNAs in CD34+ cells of 5q- syndrome. ( 21211043 )
2011
16
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. ( 21435510 )
2011
17
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
18
The role of haploinsufficiency of RPS14 and p53 activation in the molecular pathogenesis of the 5q- syndrome. ( 22053272 )
2011
19
Transformation of the 5q- syndrome to acute lymphoblastic leukemia: a report of two cases and review of the literature. ( 21487529 )
2011
20
Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome. ( 21873545 )
2011
21
The 5q- syndrome: biology and treatment. ( 21964863 )
2011
22
Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype. ( 19898489 )
2010
23
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. ( 19966810 )
2010
24
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
25
Induction of p53 and up-regulation of the p53 pathway in the human 5q- syndrome. ( 20360478 )
2010
26
Advances in the 5q- syndrome. ( 20733155 )
2010
27
Closing in on the pathogenesis of the 5q- syndrome. ( 20469997 )
2010
28
New insights into 5q- syndrome as a ribosomopathy. ( 20980806 )
2010
29
JAK2 V617F mutation is associated with 5q- syndrome in Chinese. ( 19562618 )
2009
30
Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression. ( 19797731 )
2009
31
Both expanded and uncultured mesenchymal stem cells from MDS patients are genomically abnormal, showing a specific genetic profile for the 5q- syndrome. ( 19151777 )
2009
32
Van-den Berghe's 5q- syndrome in 2008. ( 19016715 )
2009
33
Revealing the pathogenesis of the 5q- syndrome. ( 18717823 )
2008
34
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. ( 18202658 )
2008
35
Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes. ( 18477045 )
2008
36
The 5q- syndrome. ( 18283785 )
2008
37
Lack of RPS14 promoter aberrant methylation supports the haploinsufficiency model for the 5q- syndrome. ( 18650472 )
2008
38
Myelodysplastic syndrome with isolated 5q deletion (5q- syndrome). A clonal stem cell disorder characterized by defective ribosome biogenesis. ( 18591621 )
2008
39
Lessons from a Jehovah's Witness with 5q- syndrome: role of systemic immunosuppression and kinetics of recovery with lenalidomide from a life threatening anaemia. ( 18510684 )
2008
40
Gene expression profiling of CD34+ cells in patients with the 5q- syndrome. ( 17916100 )
2007
41
Common deleted genes in the 5q- syndrome: thrombocytopenia and reduced erythroid colony formation in SPARC null mice. ( 17625608 )
2007
42
Lenalidomide inhibits the malignant clone and up-regulates the SPARC gene mapping to the commonly deleted region in 5q- syndrome patients. ( 17576924 )
2007
43
Treatment of the 5q- syndrome. ( 17124060 )
2006
44
The 5q- syndrome and autoimmune phenomena: report of three cases. ( 16219353 )
2006
45
5q- syndrome in a child with slowly progressive pancytopenia: a case report and review of the literature. ( 16679931 )
2006
46
The 5q- syndrome. ( 15621734 )
2004
47
Defective expression of the dihydrofolate reductase gene in patients with the 5q- syndrome. ( 12681977 )
2003
48
A prognostic impact of separation of refractory cytopenia with multilineage dysplasia and 5q- syndrome from refractory anemia in primary myelodysplastic syndrome. ( 12537974 )
2003
49
Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome. ( 12036901 )
2002
50
Pathology case of the month. Elderly woman with fatigue. The 5q- Syndrome. ( 12236399 )
2002

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:

37
# Name Kegg Source Accession
1 Ribosome hsa03010

GO Terms for Chromosome 5q Deletion Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.67 CSF1R EPO HSPA9
2 positive regulation of cell proliferation GO:0008284 9.65 CSF1R EPO F2R
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.54 CSF1R EPO F2R
4 response to unfolded protein GO:0006986 9.46 HSPA4 HSPA9
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 CSF1R EPO
6 cellular response to heat GO:0034605 9.4 HSPA4 HSPA9
7 chaperone cofactor-dependent protein refolding GO:0051085 9.32 HSPA4 HSPA9
8 protein refolding GO:0042026 9.26 HSPA4 HSPA9
9 cellular response to unfolded protein GO:0034620 9.16 HSPA4 HSPA9
10 cell-cell junction maintenance GO:0045217 8.96 CSF1R F2R
11 erythrocyte differentiation GO:0030218 8.8 EPO HSPA9 RPS14

Molecular functions related to Chromosome 5q Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heat shock protein binding GO:0031072 9.26 HSPA4 HSPA9
2 protein binding involved in protein folding GO:0044183 9.16 HSPA4 HSPA9
3 misfolded protein binding GO:0051787 8.96 HSPA4 HSPA9
4 ATPase activity, coupled GO:0042623 8.62 HSPA4 HSPA9

Sources for Chromosome 5q Deletion Syndrome

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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