Chromosome 5q Deletion Syndrome (MAR)

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 57 12 25 15
5q- Syndrome 57 75 53 25 59 37 29 55 40
Myelodysplastic Syndrome Associated with Isolated Del Chromosome Abnormality 12 25 59
Mar 57 75 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 72
Myelodysplastic Syndrome with 5q Deletion 25
Chromosome 5, Trisomy 5q 72
Chromosome 5q Deletion 53
Loss of Chromosome 5q 72
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 72


Orphanet epidemiological data:



somatic mutation
isolated cases

contiguous gene deletion syndrome of 5q31
haploinsufficiency of rps14 ()
more common in women
good prognosis


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


External Ids:

Disease Ontology 12 DOID:0090016
OMIM 57 153550
KEGG 37 H01484
ICD10 33 D46.7
ICD10 via Orphanet 34 D46.7
UMLS via Orphanet 73 C0740302 C1292779
Orphanet 59 ORPHA86841
MedGen 42 C0740302
UMLS 72 C0740302 C1292779 C1521461 more

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. MDS is considered a slow-growing (chronic) blood cancer. It can progress to a fast-growing blood cancer called acute myeloid leukemia (AML). Progression to AML occurs less commonly in people with 5q- syndrome than in those with other forms of MDS.

MalaCards based summary : Chromosome 5q Deletion Syndrome, also known as 5q- syndrome, is related to myelodysplastic syndrome and chromosome 5q14.3 deletion syndrome, distal. 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 Lenalidomide and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are myelodysplasia and abnormal megakaryocyte morphology

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 : 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.

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)

KEGG : 37
5q- syndrome is a subtype of myelodysplastic syndrome (MDS) characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression to acute myeloid leukemia (AML) compared with other types of MDS. The WHO has proposed diagnostic criteria for the 5q- syndrome, defining the syndrome as representing de novo MDS, with a 5q interstitial deletion between bands 31 and 33 as the sole cytogenetic abnormality, macrocytic anemia, less than 5% blasts in the peripheral blood, and a normal or increased platelet count. The 5q- syndrome is also unique because it shows a remarkable response to treatment with the lenalidomide. It has been suggested that the 5q- syndrome is caused by haploinsufficiency of the ribosomal protein S14 (RPS14) gene which maps to the commonly deleted region.

Wikipedia : 75 Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of... 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 top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 myelodysplastic syndrome 29.2 RPS14 EPO CSF1R
2 chromosome 5q14.3 deletion syndrome, distal 11.6
3 deletion 5q35 11.4
4 thrombocytosis 10.3
5 leukemia, acute myeloid 10.2
6 deficiency anemia 10.2
7 diamond-blackfan anemia 10.2
8 macrocytic anemia 10.2
9 neutropenia 10.2
10 acute leukemia 10.2
11 thrombocytopenia 10.1
12 myeloid leukemia 10.1
13 chromosomal triplication 10.0
14 cerebellar hypoplasia 10.0
15 umbilical hernia 10.0
16 potter's syndrome 10.0
17 atrial heart septal defect 10.0
18 hermaphroditism 10.0
19 chromosome 5q duplication 10.0
20 atresia of urethra 10.0
21 down syndrome 10.0
22 juvenile myelomonocytic leukemia 10.0
23 desmoid tumor 10.0
24 monoclonal gammopathy of uncertain significance 10.0
25 tetraploidy 10.0
26 severe cutaneous adverse reaction 10.0
27 erythema multiforme 10.0
28 pancytopenia 10.0
29 myelodysplastic syndrome with excess blasts 10.0
30 erythema multiforme major 10.0
31 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.0
32 refractory anemia 10.0
33 myeloma, multiple 9.9
34 lymphocytic leukemia 9.9
35 hemosiderosis 9.9
36 hemolytic anemia 9.9
37 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.9
38 splenomegaly 9.9
39 refractory cytopenia with multilineage dysplasia 9.9
40 red cell aplasia 9.9
41 colorectal cancer 9.9
42 left ventricular noncompaction 1 9.9
43 leukemia 9.9
44 myeloproliferative neoplasm 9.9
45 cornelia de lange syndrome 1 9.9
46 optic nerve hypoplasia, bilateral 9.9
47 cornelia de lange syndrome 9.9
48 cleft lip 9.9
49 chiari malformation 9.9
50 hypotonia 9.9

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:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myelodysplasia 59 32 Very frequent (99-80%) HP:0002863
2 abnormal megakaryocyte morphology 59 32 Frequent (79-30%) HP:0012143
3 erythroid hypoplasia 59 32 Frequent (79-30%) HP:0012133
4 bone marrow hypocellularity 59 Occasional (29-5%)
5 abnormal bleeding 59 Occasional (29-5%)
6 acute myeloid leukemia 59 Occasional (29-5%)
7 thrombocytosis 59 Frequent (79-30%)
8 increased lactate dehydrogenase activity 59 Frequent (79-30%)
9 macrocytic anemia 59 Frequent (79-30%)
10 leukopenia 59 Occasional (29-5%)
11 chronic infection 59 Occasional (29-5%)
12 abnormal erythrocyte morphology 59 Frequent (79-30%)
13 anisocytosis 59 Occasional (29-5%)
14 bone marrow hypercellularity 59 Frequent (79-30%)
15 abnormality of neutrophil morphology 59 Occasional (29-5%)
16 abnormality of bone marrow stromal cells 59 Occasional (29-5%)
17 megakaryocyte nucleus hypolobulation 59 Frequent (79-30%)
18 multiple lineage myelodysplasia 59 Occasional (29-5%)
19 refractory macrocytic anemia 32 HP:0004861

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:


MGI Mouse Phenotypes related to Chromosome 5q Deletion Syndrome:

# 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

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Lenalidomide Approved Phase 4 191732-72-6 216326
2 Angiogenesis Inhibitors Phase 4
3 Angiogenesis Modulating Agents Phase 4
4 Immunologic Factors Phase 4
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
leucovorin Approved Phase 2 58-05-9 143 6006
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
Melphalan Approved Phase 2 148-82-3 460612 4053
Darbepoetin alfa Approved, Investigational Phase 2 11096-26-7, 209810-58-2
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11 leucine Phase 2
12 Vitamin B9 Phase 2
13 Folate Phase 2
14 Vitamin B Complex Phase 2
15 Chelating Agents Phase 2
16 Antimetabolites Phase 2
17 Antimetabolites, Antineoplastic Phase 2
18 Alkylating Agents Phase 2
19 Immunosuppressive Agents Phase 2
20 Antineoplastic Agents, Alkylating Phase 2
21 Epoetin alfa Phase 2 113427-24-0
22 Hematinics Phase 2

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 PILOT STUDY PHASE II, Multicenter, Non-randomized, TO ASSESS THE EFFICACY AND SAFETY OF LENALIDOMIDE IN INDUCTION AND POST-INDUCTION IN PATIENTS WITH NOVO Acute Myeloid Leukemia (AML) WITH Cytogenetic Abnormality Monosomy 5 Terminated NCT01198054 Phase 4 Lenalidomide
2 A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study To Compare The Efficacy And Safety of Lenalidomide (Revlimid®) Versus Placebo In Subjects With Transufsion-Dependent Anemia Due to IPSS Low Or Imtermidate-1 Risk Myelodysplastic Syndromes Without Deletion 5Q(31) And Unresponsive Or Refractory To Erthropoiesis-Stimulating Agents Completed NCT01029262 Phase 3 Lenalidomide
3 Multicenter, Randomized, Double-blind, Phase III Study of REVLIMID (Lenalidomide) Versus Placebo in Patients With Low Risk Myelodysplastic Syndrome (Low and Intermediate-1 IPSS) With Alteration in 5q- and Anemia Without the Need of Transfusion. Active, not recruiting NCT01243476 Phase 3 Lenalidomide
4 Therapeutic Use of the Amino Acid Leucine in the Treatment of Transfusion-Dependent Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
5 Salvage in Patients With Myelodysplastic Syndrome After Failure of Hypomethylating Agents: Lenalidomide as a Second-line Therapy Unknown status NCT01673308 Phase 2 Lenalidomide
6 A Phase II Study of the Efficacy and Safety of Lenalidomide Combined to Escalating Doses of Chemotherapy in Intermediate-2-or High Risk MDS and AML With Del 5q Unknown status NCT00885508 Phase 2 Lenalidomide
7 The Experimental Treatment of Transfusion Dependent 5q Minus Syndrome With Leucovorin Completed NCT00004997 Phase 2 Leucovorin
8 Multicentre, Open-label, Randomized Phase II Study of Vidaza (Azacitidine) Versus Support Treatment in Patients With Low Risk Myelodysplastic Syndrome (Low and Intermediate-1 International Prognostic Scoring System(IPSS )) Without the 5q Deletion and Transfusion Dependent Anaemia Completed NCT01338337 Phase 2 Azacitidine
9 A Phase II Study of Lenalidomide (REVLIMID, NSC-703813) for Previously Untreated Non-M3, Deletion 5q Acute Myeloid Leukemia (AML) in Patients Age 60 or Older Who Decline Remission Induction Chemotherapy Completed NCT00352365 Phase 2 lenalidomide
10 Revlimid®, and Metronomic Melphalan in the Management of Higher Risk Myelodysplastic Syndromes (MDS) and CMML: A Phase 2 Study" Completed NCT00744536 Phase 2 Lenalidomide and melphalan
11 Phase II Study of Lenalidomide in Patients With Relapsed/Refractory Acute Myelogenous Leukemia or High-Risk Myelodysplastic Syndrome Associated With Chromosome 5 Abnormalities Completed NCT00360672 Phase 2 Revlimid
12 A Multicenter, Single-arm, Open-label Phase II Study of the Safety of Lenalidomide Monotherapy and Markers for Disease Progression in Patients With IPSS Low- or Intermediate-1 Risk Myelodysplastic Syndromes (MDS) Associated With an Isolated Deletion 5q Cytogenetic Abnormality (Del 5q) Active, not recruiting NCT01081431 Phase 2 Lenalidomide
13 A Prospective Trial of Revlimid® in Transfusion Dependent Patients With Non-del (5q) Low/Intermediate-1 Risk Myelodysplastic Syndrome Active, not recruiting NCT01178814 Phase 2 Revlimid (Lenalidomide)
14 Maintenance Lenalidomide in Lymphoma Active, not recruiting NCT01575860 Phase 1, Phase 2 Lenalidomide
15 Lenalidomide Maintenance Therapy in Patients With MDS or AML With Cytogenetic Abnormalities Involving Monosomy 5 or del5q After Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) Terminated NCT00720850 Phase 2 lenalidomide
16 Phase 2b Study of Oral Ezatiostat Hydrochloride (Telintra®) in Patients With Low to Intermediate-1 Risk, Non-Deletion 5q Myelodysplastic Syndrome Terminated NCT01459159 Phase 2 ezatiostat hydrochloride (Telintra®)
17 A Phase I/II Optimal Dose Study of Lenalidomide in the Non-5q- LOW and INT-1 Risk MDS Patients Terminated NCT00699842 Phase 1, Phase 2 Lenalidomide
18 Phase 2 Study of Oral Ezatiostat Hydrochloride (Telintra®) in Patients With Lenalidomide (Revlimid®) Refractory or Resistant, Low to Intermediate-1 Risk, Deletion 5q Myelodysplastic Syndrome Terminated NCT01422486 Phase 2 ezatiostat hydrochloride (Telintra®)
19 Efficacy of Eltrombopag Plus Lenalidomide Combination Therapy in Patients With IPSS Low and Intermediate-risk Myelodysplastic Syndrome With Isolated del5q: a Multicenter, Randomized, Double-blind, Placebo Controlled Study - QOL-ONE Rev2MDS Terminated NCT02928419 Phase 2 Eltrombopag/Revolade;Lenalidomide
20 Phase II Study of Lenalidomide and Darbepoetin Alfa in Myelodysplastic Syndrome (Low to Intermediate-1 Risk Category Excluding 5q Deletion) Terminated NCT01222195 Phase 2 Lenalidomide;Darbepoetin alfa
21 Phase 1 Dose-Ranging Study of Ezatiostat Hydrochloride (Telintra®, TLK199 Tablets)in Combination With Lenalidomide (Revlimid®)in Patients With Non-Deletion(5q) Low to Intermediate-1 Risk Myelodysplastic Syndrome (MDS) Completed NCT01062152 Phase 1 Ezatiostat Hydrochloride;Lenalidomide (Revlimid®)
22 Observational, Non-interventional, Multicenter Study Aimed at Collecting Retrospective/Prospective 648/96 Italian Registry Data Related to Lenalidomide (Revlimid®) Prescription to Patients With Myelodysplastic Syndromes Completed NCT01347944 lenalidomide
23 Revlimid 5 mg Capsules Special Use-results Surveillance of Transformation to Acute Myeloid Leukemia Active, not recruiting NCT02921815
24 Comparison of Diagnostic Yield of Fluorescent in Situ Hybridization Panels Against Conventional Cytogenetic Studies in Hematological Neoplasms Not yet recruiting NCT03719183
25 Post Marketing Surveillance on Safety Evaluation of REVLIMID® (Lenalidomide) Treatment of IPSS Low- or Intermediate-1-risk Myelodysplastic Syndromes Associated With a Deletion 5q or Refractory/Relapsed Mantle Cell Lymphoma in Korea Not yet recruiting NCT04036448 REVLIMID®

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:

Bone, Bone Marrow, Myeloid, Neutrophil, Testes, Skin, Pancreas

Publications for Chromosome 5q Deletion Syndrome

Articles related to Chromosome 5q Deletion Syndrome:

(show top 50) (show all 317)
# Title Authors PMID Year
Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype. 38 8
19898489 2010
Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes. 38 8
18477045 2008
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. 38 8
18202658 2008
Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q. 38 8
16735711 2006
Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome. 38 8
12036901 2002
Molecular mapping of uncharacteristically small 5q deletions in two patients with the 5q- syndrome: delineation of the critical region on 5q and identification of a 5q- breakpoint. 38 8
8188284 1994
The 5q- syndrome: a single-institution study of 43 consecutive patients. 38 8
8427985 1993
Hematologic and cytogenetic remission of 5q-refractory anemia after syngeneic bone marrow transplantation. 38 8
3082200 1986
The human gene encoding GM-CSF is at 5q21-q32, the chromosome region deleted in the 5q- anomaly. 38 8
2999978 1985
Expression of the human c-fms proto-oncogene in hematopoietic cells and its deletion in the 5q- syndrome. 38 8
4028159 1985
Loss of Tifab, a del(5q) MDS gene, alters hematopoiesis through derepression of Toll-like receptor-TRAF6 signaling. 8
26458771 2015
Lenalidomide induces ubiquitination and degradation of CK1α in del(5q) MDS. 8
26131937 2015
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms. 8
25920683 2015
Haploinsufficiency of EGR1, a candidate gene in the del(5q), leads to the development of myeloid disorders. 8
17420284 2007
Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. 8
16741228 2006
Evolutionary conservation of zebrafish linkage group 14 with frequently deleted regions of human chromosome 5 in myeloid malignancies. 8
11983906 2002
Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases. 8
8516290 1993
5q- and disordered haematopoiesis. 8
3552346 1986
Evidence for the involvement of GM-CSF and FMS in the deletion (5q) in myeloid disorders. 8
3484837 1986
The 5q-anomaly. 8
3891074 1985
Distinct haematological disorder with deletion of long arm of no. 5 chromosome. 8
4421285 1974
Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. 9 38
9624537 1998
The thrombin receptor gene is centromeric to the common proximal breakpoint in patients with the 5q- syndrome: identification of a previously unrecognized chromosome 5 inversion. 9 38
8602997 1996
5q- syndrome in a child. 9 38
7736428 1995
Molecular genetic aspects of myelodysplastic syndromes. 9 38
1613006 1992
Rps14, Csnk1a1 and miRNA145/miRNA146a deficiency cooperate in the clinical phenotype and activation of the innate immune system in the 5q- syndrome. 38
30651631 2019
Diagnostic Value of Flow Cytometry Standardized Using the European LeukemiaNet for Myelodysplastic Syndrome. 38
31330512 2019
Precise A•T to G•C base editing in the zebrafish genome. 38
30458760 2018
Hematopoietic cell transplant for acute myeloid leukemia and myelodysplastic syndrome: conditioning regimen intensity. 38
30135184 2018
Utility of a Fluorescence Microscopy Imaging System for Analyzing the DNA Ploidy of Pathological Megakaryocytes Including 5q- Syndrome. 38
29926002 2018
Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation. 38
29408805 2018
[Ineffective erythropoiesis in myelodysplastic syndrome]. 38
29973461 2018
[Treatment for low-risk myelodysplastic syndromes]. 38
30305508 2018
[Dyserythropoiesis in myelodysplastic syndrome]. 38
30305506 2018
Lenalidomide induced durable remission in a patient with MDS/MPN-with ring sideroblasts and thrombocytosis with associated 5q- syndrome. 38
30186759 2018
Somatic mutation dynamics in MDS patients treated with azacitidine indicate clonal selection in patients-responders. 38
29340104 2017
Concomitant Occurrence of Blastic Plasmacytoid Dendritic Cell Neoplasm and Acute Myeloid Leukaemia after Lenalidomide Treatment for. 38
28879716 2017
Long-Term Maintenance of Hematological and Cytogenetic Remission in 5q- Syndrome After Short-Term Administration of Lenalidomide. 38
28824257 2017
[Lenalidomide desensitization in a patient with 5q- syndrome]. 38
28778340 2017
Myeloid Sarcoma in a Patient with Myelodysplastic Syndrome Associated with del(5q-): Case Report and Literature Review. 38
28801374 2017
Autogenous Control of 5′TOP mRNA Stability by 40S Ribosomes. 38
28673543 2017
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). 38
27914067 2017
Recurrent Cytogenetic Abnormalities in Myelodysplastic Syndromes. 38
27910026 2017
MDS: Recent progress in molecular pathogenesis and clinical aspects. 38
28978836 2017
[Disorders of Ribosomal Proteins and Related Hematologic Diseases -Review]. 38
28024515 2016
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. 38
27556864 2016
The role of ribosomal proteins in the regulation of cell proliferation, tumorigenesis, and genomic integrity. 38
27294833 2016
A Zebrafish Model of 5q-Syndrome Using CRISPR/Cas9 Targeting RPS14 Reveals a p53-Independent and p53-Dependent Mechanism of Erythroid Failure. 38
27216296 2016
27119845 2016
[Lenalidomide treatment in myelodysplastic syndrome with 5q deletion--Czech MDS group experience]. 38
26806497 2015

Variations for Chromosome 5q Deletion Syndrome

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

# 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:

# 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 F2R EPO CSF1R

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 HSPA9 EPO CSF1R
2 positive regulation of cell proliferation GO:0008284 9.54 F2R EPO CSF1R
3 positive regulation of MAPK cascade GO:0043410 9.43 F2R CSF1R
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.33 F2R EPO CSF1R
5 response to unfolded protein GO:0006986 9.32 HSPA9 HSPA4
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.26 EPO CSF1R
7 cell-cell junction maintenance GO:0045217 8.96 F2R CSF1R
8 erythrocyte differentiation GO:0030218 8.8 RPS14 HSPA9 EPO

Sources for Chromosome 5q Deletion Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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