MAR
MCID: MCR128
MIFTS: 39

Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic (MAR) malady

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

Aliases & Classifications for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Aliases & Descriptions for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

Name: Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic 54 13
5q- Syndrome 50 25 56 52
Myelodysplastic Syndrome Associated with Isolated Del Chromosome Abnormality 25 56
Refractory Macrocytic Anemia Due to 5q Deletion 50 25
Chromosome 5q Deletion Syndrome 54 25
5q Minus Syndrome 50 25
5q Syndrome 50 29
Myelodysplastic Syndrome with 5q Deletion Syndrome 25
Myelodysplastic Syndrome with Isolated Del 69
Myelodysplastic Syndrome with 5q Deletion 25
Chromosome 5, Trisomy 5q 69
Chromosome 5q Deletion 50
Loss of Chromosome 5q 69
5q Deletion Syndrome 50
Partial Monosomy 5q 50
5q Deletion 50
5q Monosomy 50
Deletion 5q 50
Monosomy 5q 50
5q-Syndrome 69
Mar 50

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
macrocytic anemia, refractory, due to 5q deletion, somatic:
Inheritance somatic mutation sporadic autosomal dominant contiguous gene syndrome


Classifications:



External Ids:

OMIM 54 153550
Orphanet 56 ORPHA86841
ICD10 via Orphanet 34 D46.7
ICD10 33 D46.6 D46.9

Summaries for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

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 : Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic, also known as 5q- syndrome, is related to deletion 5q35 and myelodysplastic syndrome, and has symptoms including myelodysplasia, abnormality of cells of the megakaryocyte lineage and refractory macrocytic anemia. An important gene associated with Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic is RPS14 (Ribosomal Protein S14), and among its related pathways/superpathways are Endocytosis 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 neutrophil, and related phenotype is limbs/digits/tail.

NIH Rare Diseases : 50 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. last updated: 7/15/2015

OMIM : 54 The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have... (153550) more...

Related Diseases for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Diseases related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 deletion 5q35 10.9
2 myelodysplastic syndrome 10.0
3 drug-induced hepatitis 10.0 EPO RPS14
4 leukemia 9.8
5 desmoid tumor 9.8
6 essential thrombocythemia 9.6
7 myeloid leukemia 9.6
8 mononeuropathy of the median nerve, mild 9.3 CSF1R EPO F2R RPS14

Graphical network of the top 20 diseases related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:



Diseases related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Symptoms & Phenotypes for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Symptoms by clinical synopsis from OMIM:

153550

Clinical features from OMIM:

153550

Human phenotypes related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

32
id Description HPO Frequency HPO Source Accession
1 myelodysplasia 32 HP:0002863
2 abnormality of cells of the megakaryocyte lineage 32 HP:0012143
3 refractory macrocytic anemia 32 HP:0004861
4 erythroid hypoplasia 32 HP:0012133

MGI Mouse Phenotypes related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 CSF1R EPO F2R

Drugs & Therapeutics for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Drugs for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 153)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 4,Phase 3,Phase 2,Phase 1 191732-72-6 216326
2 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
3 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
7
Cyclosporine Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
8
Methotrexate Approved Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
9
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
10
Azacitidine Approved, Investigational Phase 3,Phase 2,Phase 1 320-67-2 9444
11
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
12
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
13
Fludarabine Approved Phase 3,Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
14
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
15
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2,Phase 1 128794-94-5 5281078
16
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1 24280-93-1 446541
17
Tacrolimus Approved, Investigational Phase 3,Phase 2 104987-11-3 445643 439492
18
Vidarabine Approved Phase 3,Phase 2,Phase 1 24356-66-9 32326 21704
19
Aldesleukin Approved Phase 3,Phase 1,Phase 2 85898-30-2, 110942-02-4
20
Daunorubicin Approved Phase 3,Phase 2 20830-81-3 30323
21
Etoposide Approved Phase 3,Phase 2,Phase 1 33419-42-0 36462
22
Lenograstim Approved Phase 3,Phase 2 135968-09-1
23
Clofarabine Approved, Investigational Phase 3,Phase 1,Phase 2 123318-82-1 119182
24
Decitabine Approved, Investigational Phase 3,Phase 2,Phase 1 2353-33-5 451668
25
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 59-30-3 6037
27
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 54575, 6560146 143
28 Antimetabolites Phase 3,Phase 2,Phase 1
29 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
30 Antirheumatic Agents Phase 3,Phase 2,Phase 1
31 Alkylating Agents Phase 3,Phase 2,Phase 1
32 Antibiotics, Antitubercular Phase 3,Phase 1,Phase 2
33 Antifungal Agents Phase 3,Phase 2,Phase 1
34 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
35 Antiviral Agents Phase 3,Phase 1,Phase 2
36 Calcineurin Inhibitors Phase 3,Phase 2,Phase 1
37 Dermatologic Agents Phase 3,Phase 2,Phase 1
38 Folic Acid Antagonists Phase 3,Phase 2
39 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
40 Vidarabine Phosphate Phase 3,Phase 2,Phase 1
41 Vitamin B Complex Phase 3,Phase 2,Phase 1
42 Analgesics Phase 3,Phase 2,Phase 1
43 Analgesics, Non-Narcotic Phase 3,Phase 1,Phase 2
44 Anti-HIV Agents Phase 3,Phase 1,Phase 2
45 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
46 Anti-Retroviral Agents Phase 3,Phase 1,Phase 2
47 Etoposide phosphate Phase 3,Phase 2,Phase 1
48 Interleukin-2 Phase 3,Phase 1,Phase 2
49 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
50 Topoisomerase Inhibitors Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 117)
id Name Status NCT ID Phase
1 LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML) Terminated NCT01198054 Phase 4
2 Lenalidomide Versus Placebo in Myelodysplastic Syndromes With a Deletion 5q[31] Abnormality Completed NCT00179621 Phase 3
3 Low-Dose or High-Dose Conditioning Followed by Peripheral Blood Stem Cell Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Completed NCT00322101 Phase 3
4 Combination Chemotherapy With or Without PSC 833, Peripheral Stem Cell Transplantation, and/or Interleukin-2 in Treating Patients With Acute Myeloid Leukemia Completed NCT00006363 Phase 3
5 Study of REVLIMID (Lenalidomide) Versus Placebo in Patients With Low Risk Myelodysplastic Syndrome Recruiting NCT01243476 Phase 3
6 Clofarabine or Daunorubicin Hydrochloride and Cytarabine Followed By Decitabine or Observation in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia Recruiting NCT02085408 Phase 3
7 A Study of Lenalidomide Versus Placebo in Subjects With Transfusion Dependent Anemia in Lower Risk Myelodysplastic Syndrome (MDS) Without Del 5q Active, not recruiting NCT01029262 Phase 3
8 Empirical Versus Preemptive Antifungal Therapy Active, not recruiting NCT01288378 Phase 3
9 A Study of the Efficacy and Safety of Lenalidomide Combined to Escalating Doses of Chemotherapy in Intermediate-2-or High Risk Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML) With Del 5q Unknown status NCT00885508 Phase 2
10 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2
11 The Efficacy of Azacitidine +/- Lenalidomide in High-risk Myelodysplastic Syndrome (MDS)and Acute Myeloid Leukemia (AML) With Del(5q). Unknown status NCT01556477 Phase 2
12 Lenalidomide in Subjects With intermediate2 or High MDS Associated With a Deletion (DEL) 5q [31] Unknown status NCT00424229 Phase 2
13 Safety and Tolerability Trial of Abatacept-based Immunosuppression for Prevention of Acute Graft Versus Host Disease (aGVHD) During Transplant Unknown status NCT01012492 Phase 2
14 Study of Vidaza (Azacitidine) Versus Support Treatment in Patients With Low Risk Myelodysplastic Syndrome (Low and Intermediate-1 IPSS) Without the 5q Deletion and Transfusion Dependent Anaemia Completed NCT01338337 Phase 2
15 Safety of Lenalidomide and Markers for Disease Progression in Patients With International Prognostic Scoring System (IPSS) Low- or Intermediate-1 Risk Myelodysplastic Syndromes (MDS) With Isolated del5q Completed NCT01081431 Phase 2
16 Lenalidomide in Treating Older Patients With Acute Myeloid Leukemia Completed NCT00352365 Phase 2
17 Efficacy Study of Revlimid® and Low Dose Continuously Administered Melphalan to Treat High Risk MDS Completed NCT00744536 Phase 2
18 Lenalidomide in Older Patients With Acute Myeloid Leukemia Without Chromosome 5q Abnormalities Completed NCT00546897 Phase 2
19 Lenalidomide in High-risk MDS and AML With Del(5q) or Monosomy 5 Completed NCT00761449 Phase 2
20 Leucovorin for the Treatment of 5 q Minus Syndrome Completed NCT00004997 Phase 2
21 Lenalidomide Safety/Efficacy in Myelodysplastic Syndromes (MDS) Associated With a Deletion (Del)(5q) Cytogenetic Abnormality Completed NCT00065156 Phase 2
22 Study of the Efficacy and Safety of Lenalidomide in Combination With Cyclosporine A in Patients With Myelodysplastic Syndromes Completed NCT00840827 Phase 2
23 A Pharmacokinetic And Pharmacodynamic Study Of Oral Lenalidomide (Revlimid) In Subjects With Low- Or Intermediate-1-Risk Myelodysplastic Syndromes Completed NCT00910858 Phase 1, Phase 2
24 Efficacy and Safety Study of CC-5013 Monotherapy in Subjects With Myelodysplastic Syndromes Completed NCT00064974 Phase 2
25 Bendamustine Hydrochloride and Idarubicin in Treating Older Patients With Previously Untreated Acute Myeloid Leukemia or Myelodysplastic Syndrome Completed NCT01141725 Phase 1, Phase 2
26 Clofarabine and Cytarabine in Treating Older Patients With Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndromes That Have Relapsed or Not Responded to Treatment Completed NCT00839982 Phase 1, Phase 2
27 Treosulfan, Fludarabine Phosphate, and Total-Body Irradiation Before Donor Stem Cell Transplant in Treating Patients With High-Risk Acute Myeloid Leukemia, Myelodysplastic Syndrome, Acute Lymphoblastic Leukemia Completed NCT00860574 Phase 2
28 High-Dose Busulfan and High-Dose Cyclophosphamide Followed By Donor Bone Marrow Transplant in Treating Patients With Leukemia, Myelodysplastic Syndrome, Multiple Myeloma, or Recurrent Hodgkin or Non-Hodgkin Lymphoma Completed NCT01177371 Phase 2
29 Early Discharge and Outpatients Care in Patients With Myelodysplastic Syndrome or Acute Myeloid Leukemia Previously Treated With Intensive Chemotherapy Completed NCT01235572 Phase 2
30 Azacitidine in Treating Patients With Relapsed Myelodysplastic Syndrome, Chronic Myelomonocytic Leukemia, or Acute Myeloid Leukemia Who Have Undergone Stem Cell Transplant Completed NCT01083706 Phase 2
31 Tosedostat in Combination With Cytarabine or Decitabine in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome Completed NCT01567059 Phase 2
32 A Phase II Study Of The Farnesyltransferase Inhibitor ZANESTRA (R115777, NSC #702818, IND #58,359) In Complete Remission Following Induction And/Or Consolidation Chemotherapy In Adults With Poor-Risk Acute Myelogenous Leukemia (AML) And High-Risk Myelodys Completed NCT00045396 Phase 2
33 Haploidentical Donor Bone Marrow Transplant in Treating Patients With High-Risk Hematologic Cancer Completed NCT00049504 Phase 2
34 Infusion of Off-the-Shelf Expanded Cord Blood Cells to Augment Cord Blood Transplant in Patients With Hematologic Malignancies Completed NCT01175785 Phase 2
35 Fludarabine Phosphate, Busulfan, and Anti-Thymocyte Globulin Followed By Donor Peripheral Blood Stem Cell Transplant, Tacrolimus, and Methotrexate in Treating Patients With Myeloid Malignancies Completed NCT01056614 Phase 2
36 Vorinostat, Tacrolimus, and Methotrexate in Preventing GVHD After Stem Cell Transplant in Patients With Hematological Malignancies Completed NCT01789255 Phase 2
37 Tipifarnib in Treating Older Patients With Previously Untreated Acute Myeloid Leukemia Completed NCT00027872 Phase 2
38 Alvocidib, Cytarabine, and Mitoxantrone Hydrochloride or Cytarabine and Daunorubicin Hydrochloride in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT01349972 Phase 2
39 Alvocidib, Cytarabine, and Mitoxantrone in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00795002 Phase 2
40 Tipifarnib and Etoposide in Treating Older Patients With Newly Diagnosed, Previously Untreated Acute Myeloid Leukemia Completed NCT00602771 Phase 2
41 Bortezomib and Combination Chemotherapy in Treating Younger Patients With Recurrent, Refractory, or Secondary Acute Myeloid Leukemia Completed NCT00666588 Phase 2
42 Phase I/II Trial to Investigate BI 836858 in Myelodysplastic Syndromes Recruiting NCT02240706 Phase 2
43 Efficacy of Eltrombopag Plus Lenalidomide Combination Therapy in Patients With IPSS Low and Intermediate-risk Myelodysplastic Syndrome With Isolated del5q Recruiting NCT02928419 Phase 2
44 Sirolimus and Azacitidine in Treating Patients With High Risk Myelodysplastic Syndrome or Acute Myeloid Leukemia That is Recurrent or Not Eligible for Intensive Chemotherapy Recruiting NCT01869114 Phase 2
45 Dasatinib for Immune Modulation After Donor Stem Cell Transplant for Hematologic Malignancies Recruiting NCT01643603 Phase 1, Phase 2
46 Donor T Cells After Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies Recruiting NCT01839916 Phase 2
47 A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies Recruiting NCT01384513 Phase 2
48 Reduced-Intensity Conditioning Before Donor Stem Cell Transplant in Treating Patients With High-Risk Hematologic Malignancies Recruiting NCT01760655 Phase 2
49 Eltrombopag Olamine in Improving Platelet Recovery in Older Patients With Acute Myeloid Leukemia Undergoing Chemotherapy Recruiting NCT02071901 Phase 2
50 Trial of High Dose Lenalidomide in Patients With Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML) With Trilineage Dysplasia (AML-TLD) Active, not recruiting NCT00867308 Phase 2

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Genetic Tests for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Genetic tests related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

id Genetic test Affiliating Genes
1 5q- Syndrome 29

Anatomical Context for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

MalaCards organs/tissues related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic:

39
Bone, Bone Marrow, Neutrophil

Publications for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Variations for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Copy number variations for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic from CNVD:

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

Expression for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Search GEO for disease gene expression data for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic.

Pathways for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Pathways related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.67 CSF1R F2R
2 11.33 CSF1R EPO F2R
3 11.14 CSF1R EPO
4 10.64 CSF1R EPO

GO Terms for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Cellular components related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic according to GeneCards Suite gene sharing:

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

Biological processes related to Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.43 CSF1R EPO F2R
2 response to lipopolysaccharide GO:0032496 9.37 EPO F2R
3 positive regulation of cell migration GO:0030335 9.32 CSF1R F2R
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.16 CSF1R EPO
5 erythrocyte differentiation GO:0030218 8.96 EPO RPS14
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 8.8 CSF1R EPO F2R

Sources for Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
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