MCID: ACQ031
MIFTS: 36

Acquired Idiopathic Sideroblastic Anemia

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Acquired Idiopathic Sideroblastic Anemia

MalaCards integrated aliases for Acquired Idiopathic Sideroblastic Anemia:

Name: Acquired Idiopathic Sideroblastic Anemia 59
Refractory Anemia with Ringed Sideroblasts 59
Sideroblastic Anemia, Acquired Idiopathic 6
Primary Acquired Sideroblastic Anemia 59
Aisa 59

Characteristics:

Orphanet epidemiological data:

59
acquired idiopathic sideroblastic anemia
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

Classifications:



External Ids:

Orphanet 59 ORPHA75564
UMLS via Orphanet 74 C1264195
ICD10 via Orphanet 34 D64.3

Summaries for Acquired Idiopathic Sideroblastic Anemia

MalaCards based summary : Acquired Idiopathic Sideroblastic Anemia, also known as refractory anemia with ringed sideroblasts, is related to pyridoxine-refractory autosomal recessive sideroblastic anemia and myelodysplastic syndrome. An important gene associated with Acquired Idiopathic Sideroblastic Anemia is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I), and among its related pathways/superpathways are Gene Expression and TP53 Regulates Metabolic Genes. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid.

Related Diseases for Acquired Idiopathic Sideroblastic Anemia

Diseases related to Acquired Idiopathic Sideroblastic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 pyridoxine-refractory autosomal recessive sideroblastic anemia 12.0
2 myelodysplastic syndrome 11.6
3 refractory anemia 10.9
4 thrombocytosis 10.8
5 sideroblastic anemia 10.5
6 leukemia 10.1
7 acute leukemia 9.9
8 gnathomiasis 9.8 MT-CO1 TET2
9 myoglobinuria, recurrent 9.8 COX5A MT-CO1
10 kearns-sayre syndrome 9.7 COX5A MT-CO1
11 mitochondrial complex iv deficiency 9.6 COX5A MT-CO1
12 mitochondrial myopathy 9.5 COX5A MT-CO1
13 leukemia, acute myeloid 9.0 SF3B1 TET2

Graphical network of the top 20 diseases related to Acquired Idiopathic Sideroblastic Anemia:



Diseases related to Acquired Idiopathic Sideroblastic Anemia

Symptoms & Phenotypes for Acquired Idiopathic Sideroblastic Anemia

Drugs & Therapeutics for Acquired Idiopathic Sideroblastic Anemia

Drugs for Acquired Idiopathic Sideroblastic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
3 Chelating Agents Phase 4
4 Iron Chelating Agents Phase 4
5
Lenograstim Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 135968-09-1
6
Etoposide Approved Phase 3,Phase 1,Phase 2 33419-42-0 36462
7
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
8
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
9
Idarubicin Approved Phase 3 58957-92-9 42890
10
Azacitidine Approved, Investigational Phase 3,Phase 1,Phase 2 320-67-2 9444
11
Decitabine Approved, Investigational Phase 3,Phase 1,Phase 2 2353-33-5 451668
12
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
13
Fludarabine Approved Phase 3,Phase 2,Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
14
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
15
Methotrexate Approved Phase 3,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
16
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
17
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
18
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 55-98-1 2478
19
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Not Applicable 50-24-8 5755
20
Daunorubicin Approved Phase 3 20830-81-3 30323
21
Thioguanine Approved Phase 3 154-42-7 2723601
22
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Not Applicable 83-43-2 6741
23
Aldesleukin Approved Phase 3,Phase 1 85898-30-2, 110942-02-4
24
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Not Applicable 58-05-9 143 6006
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Not Applicable 59-30-3 6037
26
Butyric Acid Experimental, Investigational Phase 3 107-92-6 264
27 Epoetin alfa Phase 2, Phase 3 113427-24-0
28 Adjuvants, Immunologic Phase 2, Phase 3,Phase 3,Phase 1
29 Hematinics Phase 2, Phase 3
30 Cyclosporins Phase 3,Phase 2,Phase 1,Not Applicable
31 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
32 Dermatologic Agents Phase 3,Phase 2,Phase 1,Not Applicable
33 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
34 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
35 Pharmaceutical Solutions Phase 2, Phase 3
36 Etoposide phosphate Phase 3,Phase 1,Phase 2
37 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
38 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
39 Antifungal Agents Phase 3,Phase 2,Phase 1,Not Applicable
40 Protective Agents Phase 2, Phase 3,Phase 1,Not Applicable
41 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
42 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
43 Antiviral Agents Phase 3,Phase 2,Phase 1
44 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Not Applicable
45 Calcineurin Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
46 Antineoplastic Agents, Phytogenic Phase 3,Phase 1,Phase 2
47 Prednisolone acetate Phase 2, Phase 3,Not Applicable
48 Dexamethasone acetate Phase 3 1177-87-3
49 Interleukin-2 Phase 3,Phase 1
50 Analgesics Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndrome and Transfusion-dependent Iron Overload Completed NCT00481143 Phase 4 ICL670/Deferasirox
2 Erythropoietin (EPO) and Granulocyte-Colony Stimulating Factor (G-CSF) for Low-Risk Myelodysplastic Syndromes (MDS) Unknown status NCT00234143 Phase 2, Phase 3 Darbepoetin
3 Combination Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Unknown status NCT00002926 Phase 3 cytarabine;etoposide;idarubicin
4 Low-Dose Decitabine Compared With Standard Supportive Care in Treating Older Patients With Myelodysplastic Syndrome Unknown status NCT00043134 Phase 3 decitabine
5 Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome Completed NCT00002798 Phase 3 asparaginase;daunorubicin hydrochloride;fludarabine phosphate;therapeutic hydrocortisone;cytarabine;idarubicin;dexamethasone;thioguanine;etoposide;methotrexate;cyclophosphamide;busulfan
6 Antithymocyte Globulin and Cyclosporine in Treating Patients With Myelodysplastic Syndrome Completed NCT00004208 Phase 3 ATG + CSA
7 Sibling Donor Peripheral Stem Cell Transplant or Sibling Donor Bone Marrow Transplant in Treating Patients With Hematologic Cancers or Other Diseases Completed NCT00438958 Phase 3
8 Bone Marrow Transplantation in Treating Patients With Leukemia, Myelodysplasia, or Lymphoblastic Lymphoma Completed NCT00003187 Phase 2, Phase 3 cyclophosphamide;cyclosporine;cytarabine;methotrexate;methylprednisolone
9 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
10 Safety and Efficacy Study of Umbilical Cord/Placenta-Derived Mesenchymal Stem Cells to Treat Myelodysplastic Syndromes Unknown status NCT01129739 Phase 2
11 Amifostine in Treating Patients With Advanced Myelodysplastic Syndrome Unknown status NCT00003123 Phase 2 amifostine trihydrate
12 Gemtuzumab in Treating Patients With Myelodysplastic Syndrome Unknown status NCT00022321 Phase 2 gemtuzumab ozogamicin
13 Vaccine Therapy and GM-CSF in Treating Patients With Low-Risk or Intermediate-Risk Myelodysplastic Syndrome Unknown status NCT00513578 Phase 2
14 Amifostine With or Without Epoetin Alfa in Treating Patients With Myelodysplastic Syndrome Unknown status NCT00003681 Phase 2 amifostine trihydrate
15 Arsenic Trioxide in Treating Patients With Myelodysplastic Syndromes Unknown status NCT00020969 Phase 2 arsenic trioxide
16 Bexarotene and GM-CSF in Treating Patients With Myelodysplastic Syndrome or Acute Myeloid Leukemia Unknown status NCT00425477 Phase 2 bexarotene
17 Vorinostat, Tacrolimus, and Methotrexate in Preventing GVHD After Stem Cell Transplant in Patients With Hematological Malignancies Completed NCT01789255 Phase 2 vorinostat;tacrolimus;cyclosporine;methotrexate
18 Differentiation Therapy With Decitabine in Treating Patients With Myelodysplastic Syndrome Completed NCT01165996 Phase 1, Phase 2 decitabine
19 Safety and Tolerability Trial of Abatacept-based Immunosuppression for Prevention of Acute GvHD During Unrelated Donor Hematopoietic Stem Cell Transplant Completed NCT01012492 Phase 2 Abatacept
20 MS-275 and GM-CSF in Treating Patients With Myelodysplastic Syndrome and/or Relapsed or Refractory Acute Myeloid Leukemia or Acute Lymphocytic Leukemia Completed NCT00462605 Phase 2 entinostat;sargramostim
21 Thalidomide in Treating Patients With Myelodysplastic Syndrome Completed NCT00015990 Phase 2 thalidomide
22 Infliximab in Treating Patients With Myelodysplastic Syndrome Completed NCT00074074 Phase 2
23 Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Myelodysplastic Syndrome Completed NCT00024050 Phase 2 busulfan;cyclophosphamide;cyclosporine;methotrexate
24 S0020 Immunosuppressive Therapy in Treating Patients With Myelodysplastic Syndrome Completed NCT00016419 Phase 2 cyclosporine
25 Bortezomib in Treating Patients With Myelodysplastic Syndromes Completed NCT00262873 Phase 2 bortezomib
26 Amifostine in Treating Young Patients With Newly Diagnosed De Novo Myelodysplastic Syndromes Completed NCT00098683 Phase 2 amifostine trihydrate
27 Donor Stem Cell Transplant After Busulfan, Fludarabine, Methylprednisolone, and Antithymocyte Globulin in Treating Patients With Bone Marrow Failure Syndrome Completed NCT00731328 Phase 2
28 Topotecan in Treating Patients With Myelodysplastic Syndrome Completed NCT00003675 Phase 2 topotecan hydrochloride
29 Bryostatin 1 in Treating Patients With Myelodysplastic Syndrome Completed NCT00003171 Phase 2 bryostatin 1
30 Decitabine in Treating Patients With Myelodysplastic Syndrome Completed NCT00003361 Phase 2 decitabine
31 Vatalanib in Treating Patients With Primary or Secondary Myelodysplastic Syndromes Completed NCT00072475 Phase 2 vatalanib
32 Thalidomide in Treating Anemia in Patients With Myelodysplastic Syndrome Completed NCT00030550 Phase 2 thalidomide
33 Bevacizumab in Treating Patients With Myelodysplastic Syndrome Completed NCT00022048 Phase 1, Phase 2
34 Biological Therapy in Treating Patients With Myelodysplastic Syndrome Completed NCT00005853 Phase 2
35 Pilot Study Of Unrelated UCB Transplant for Non-Malignant Hematologic Conditions Completed NCT00003336 Phase 2 busulfan;cyclophosphamide;melphalan;methylprednisolone
36 Donor Peripheral Stem Cell Transplant, Fludarabine, and Busulfan in Treating Patients With Hematologic Cancers Completed NCT00619645 Phase 2 busulfan;cyclosporine;fludarabine phosphate;mycophenolate mofetil
37 Donor Umbilical Cord Blood Transplantation in Treating Patients With Leukemia, Lymphoma, or Nonmalignant Hematologic Disorders Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
38 Umbilical Cord Blood Transplantation in Treating Patients With Hematologic Cancer or Other Hematologic or Metabolic Diseases Completed NCT00003662 Phase 2 busulfan;cyclophosphamide;cyclosporine;melphalan;methylprednisolone
39 Combination Chemotherapy and Total-Body Irradiation Before Donor Umbilical Cord Blood Transplant in Treating Patients With Advanced Hematologic Cancer, Metastatic Breast Cancer, or Kidney Cancer Completed NCT00365287 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;fludarabine phosphate;mycophenolate mofetil
40 Tacrolimus and Mycophenolate Mofetil in Preventing Acute Graft-Versus-Host Disease in Patients With Advanced Hematologic Cancer Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00096096 Phase 2 mycophenolate mofetil;tacrolimus
41 Combination Chemotherapy and Bone Marrow Transplantation in Treating Patients With Leukemia or Myelodysplastic Syndrome Completed NCT00002502 Phase 2 busulfan;cyclophosphamide;cytarabine
42 Paricalcitol in Treating Patients With Myelodysplastic Syndrome Completed NCT00064376 Phase 2 paricalcitol
43 Combination Chemotherapy Followed By Peripheral Stem Cell Transplantation or Isotretinoin in Treating Patients With Acute Myeloid Leukemia, Myelodysplastic Syndrome, or Acute Lymphocytic Leukemia Completed NCT00003619 Phase 1, Phase 2 busulfan;cytarabine;etoposide;fludarabine phosphate;isotretinoin;topotecan hydrochloride
44 Combination Chemotherapy Followed by Peripheral Stem Cell Transplantation in Treating Patients With Chronic Myelogenous Leukemia or Myelodysplastic Syndrome Completed NCT00027924 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate
45 Chemotherapy Plus Biological Therapy Followed By Peripheral Stem Cell Transplantation in Treating Patients With Hematologic Cancer Completed NCT00004145 Phase 2 cyclophosphamide;fludarabine phosphate
46 Reduced-Intensity Regimen Before Donor Bone Marrow Transplant in Treating Patients With Myelodysplastic Syndromes Completed NCT00045305 Phase 2 Cyclosporine;Methotrexate;Photopheresis;Mycofenolate mofetil;Pentostatin
47 Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer Completed NCT00054327 Phase 2 busulfan;cyclophosphamide;cytarabine;Etoposide
48 Bone Marrow Transplant in Treating Patients With Hematologic Cancers Completed NCT00005797 Phase 2 busulfan;Cyclophosphamide;VP-16
49 Donor Bone Marrow Transplant in Treating Patients With Leukemia, Lymphoma, or Nonmalignant Hematologic Disorders Completed NCT00005622 Phase 2 cyclophosphamide
50 Busulfan and Cyclophosphamide Followed by Bone Marrow Transplantation in Treating Patients With Acute Myelogenous Leukemia or Myelodysplastic Syndrome Completed NCT00004896 Phase 2 busulfan;cyclophosphamide

Search NIH Clinical Center for Acquired Idiopathic Sideroblastic Anemia

Genetic Tests for Acquired Idiopathic Sideroblastic Anemia

Anatomical Context for Acquired Idiopathic Sideroblastic Anemia

MalaCards organs/tissues related to Acquired Idiopathic Sideroblastic Anemia:

41
Bone, Bone Marrow, Myeloid, Kidney, T Cells, Breast, Testes

Publications for Acquired Idiopathic Sideroblastic Anemia

Articles related to Acquired Idiopathic Sideroblastic Anemia:

(show top 50) (show all 94)
# Title Authors Year
1
Refractory anemia with ring sideroblasts and thrombocytosis. ( 28401094 )
2017
2
Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management. ( 28188970 )
2017
3
Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing. ( 26874914 )
2016
4
Vascular events and risk factors for thrombosis in refractory anemia with ring sideroblasts and thrombocytosis. ( 27479179 )
2016
5
Management of differentiation syndrome in an elderly patient with acute promyelocytic leukemia who subsequently developed refractory anemia with ring sideroblasts. ( 27073113 )
2016
6
Treatment of Refractory Anemia with Ring Sideroblasts Associated with Marked Thrombocytosis with Lenalidomide in a Patient Testing Negative for 5q Deletion and JAK2 V617F and MPL W515K/L Mutations. ( 27994837 )
2016
7
Imetelstat therapy in refractory anemia with ring sideroblasts with or without thrombocytosis. ( 26967822 )
2016
8
Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS). ( 27771989 )
2016
9
Erythroblast morphology in refractory anemia with ring sideroblasts and thrombocytosis. ( 27301073 )
2016
10
Abnormalities in the T Cell Receptor VI' Repertoire and Foxp3 Expression in Refractory Anemia with Ringed Sideroblasts. ( 26154600 )
2015
11
Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts. ( 25955609 )
2015
12
An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report. ( 25621045 )
2015
13
Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations. ( 25527566 )
2015
14
Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T). ( 25899435 )
2015
15
Effectiveness of lenalidomide in a patient with refractory anemia with ring sideroblasts and thrombocytosis with JAK2 (V617F) mutation. ( 25963624 )
2015
16
Molecular and phenotypic heterogeneity of refractory anemia with ring sideroblasts associated with marked thrombocytosis. ( 25926061 )
2015
17
A yet unreported der(11)t(6;11)(p21;q21) included in a complex karyotype of a refractory anemia with ring sideroblasts and poor prognosis. ( 24439112 )
2014
18
Refractory anemia with ring sideroblasts associated with thrombocytosis (RARS-T). ( 24575445 )
2014
19
CALR mutations are infrequent in WHO-defined refractory anemia with ring sideroblasts. ( 24476767 )
2014
20
Histopathological evaluation of the bone marrow in refractory anemia with ring sideroblasts and thrombocytosis associated to the JAK2-V617F mutation. ( 24624040 )
2014
21
Response to lenalidomide of a patient with t(2;3)(p23;q29) and JAK2 non-mutated refractory anemia with ring sideroblasts and thrombocytosis. ( 23252419 )
2013
22
A case of refractory anemia with ring sideroblasts and associated thrombocytosis. ( 23844433 )
2013
23
Refractory anemia with ring sideroblasts. ( 24507814 )
2013
24
The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts. ( 23070040 )
2013
25
Molecular similarity between myelodysplastic form of chronic myelomonocytic leukemia and refractory anemia with ring sideroblasts. ( 23065512 )
2013
26
Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases. ( 24399021 )
2013
27
Plasma proteome changes associated with refractory anemia and refractory anemia with ringed sideroblasts in patients with myelodysplastic syndrome. ( 23566303 )
2013
28
High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms. ( 22929973 )
2013
29
Refractory anemia with ring sideroblasts associated with marked thrombocytosis complicated by massive splenomegaly treated with lenalidomide resulting in resolution of splenomegaly but severe and prolonged pancytopenia. ( 23653870 )
2013
30
Refractory anemia with ring sideroblasts associated with marked thrombocytosis harboring cytogenetic abnormality dup(2)(p15p22) treated with decitabine. ( 22468921 )
2012
31
Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis. ( 22532522 )
2012
32
Refractory anemia with ring sideroblasts associated with marked thrombocytosis: case report and literature review. ( 22990561 )
2012
33
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. ( 21886174 )
2012
34
Refractory anemia with ring sideroblasts associated with marked thrombocytosis: a mixed group exhibiting a spectrum of morphologic findings. ( 21350094 )
2011
35
Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts. ( 20864173 )
2011
36
Development of refractory anemia with ring sideroblasts associated with thrombocytosis from pre-existing refractory anemia with ring sideroblasts through acquisition of Jak2 V617F mutation. ( 21806348 )
2011
37
Refractory anemia with ring sideroblasts masked by iron deficiency anemia. ( 21786459 )
2011
38
Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13). ( 21380928 )
2011
39
Identification of protein-coding and non-coding RNA expression profiles in CD34+ and in stromal cells in refractory anemia with ringed sideroblasts. ( 20633296 )
2010
40
Refractory anemia with ring sideroblasts in a young individual. ( 21120155 )
2010
41
Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. ( 20194893 )
2010
42
JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia. ( 21120162 )
2010
43
Refractory anemia with ringed sideroblasts: more than meets the eye. ( 20713854 )
2010
44
Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis. ( 19903679 )
2010
45
Absence of frataxin mutations in refractory anemia with ring sideroblasts (RARS). ( 18687468 )
2009
46
Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. ( 19692701 )
2009
47
JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. ( 18166783 )
2008
48
Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis. ( 18059483 )
2008
49
Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status. ( 18820995 )
2008
50
Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis. ( 17713548 )
2008

Variations for Acquired Idiopathic Sideroblastic Anemia

ClinVar genetic disease variations for Acquired Idiopathic Sideroblastic Anemia:

6
(show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO1 m.6742T> C single nucleotide variant Pathogenic rs199476126 GRCh37 Chromosome MT, 6742: 6742
2 MT-CO1 m.6742T> C single nucleotide variant Pathogenic rs199476126 GRCh38 Chromosome MT, 6742: 6742
3 MT-CO1 m.6721T> C single nucleotide variant Pathogenic rs199476127 GRCh37 Chromosome MT, 6721: 6721
4 MT-CO1 m.6721T> C single nucleotide variant Pathogenic rs199476127 GRCh38 Chromosome MT, 6721: 6721
5 SLC25A38 NM_017875.3(SLC25A38): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2270770 GRCh37 Chromosome 3, 39431081: 39431081
6 SLC25A38 NM_017875.3(SLC25A38): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2270770 GRCh38 Chromosome 3, 39389590: 39389590
7 SLC25A38 NM_017875.3(SLC25A38): c.-303A> C single nucleotide variant Likely benign rs114422738 GRCh38 Chromosome 3, 39383422: 39383422
8 SLC25A38 NM_017875.3(SLC25A38): c.-303A> C single nucleotide variant Likely benign rs114422738 GRCh37 Chromosome 3, 39424913: 39424913
9 SLC25A38 NM_017875.3(SLC25A38): c.239C> G (p.Thr80Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144149294 GRCh37 Chromosome 3, 39431961: 39431961
10 SLC25A38 NM_017875.3(SLC25A38): c.239C> G (p.Thr80Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144149294 GRCh38 Chromosome 3, 39390470: 39390470
11 SLC25A38 NM_017875.3(SLC25A38): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance rs143865753 GRCh37 Chromosome 3, 39433101: 39433101
12 SLC25A38 NM_017875.3(SLC25A38): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance rs143865753 GRCh38 Chromosome 3, 39391610: 39391610
13 SLC25A38 NM_017875.3(SLC25A38): c.570C> A (p.Pro190=) single nucleotide variant Uncertain significance rs886058471 GRCh37 Chromosome 3, 39433457: 39433457
14 SLC25A38 NM_017875.3(SLC25A38): c.570C> A (p.Pro190=) single nucleotide variant Uncertain significance rs886058471 GRCh38 Chromosome 3, 39391966: 39391966
15 SLC25A38 NM_017875.3(SLC25A38): c.652A> T (p.Ile218Phe) single nucleotide variant Uncertain significance rs764125735 GRCh38 Chromosome 3, 39394436: 39394436
16 SLC25A38 NM_017875.3(SLC25A38): c.652A> T (p.Ile218Phe) single nucleotide variant Uncertain significance rs764125735 GRCh37 Chromosome 3, 39435927: 39435927
17 SLC25A38 NM_017875.3(SLC25A38): c.*370C> T single nucleotide variant Uncertain significance rs886058472 GRCh38 Chromosome 3, 39396890: 39396890
18 SLC25A38 NM_017875.3(SLC25A38): c.*370C> T single nucleotide variant Uncertain significance rs886058472 GRCh37 Chromosome 3, 39438381: 39438381
19 SLC25A38 NM_017875.3(SLC25A38): c.-227G> A single nucleotide variant Uncertain significance rs886058468 GRCh38 Chromosome 3, 39383498: 39383498
20 SLC25A38 NM_017875.3(SLC25A38): c.-227G> A single nucleotide variant Uncertain significance rs886058468 GRCh37 Chromosome 3, 39424989: 39424989
21 SLC25A38 NM_017875.3(SLC25A38): c.-161G> A single nucleotide variant Uncertain significance rs528990278 GRCh38 Chromosome 3, 39383564: 39383564
22 SLC25A38 NM_017875.3(SLC25A38): c.-161G> A single nucleotide variant Uncertain significance rs528990278 GRCh37 Chromosome 3, 39425055: 39425055
23 SLC25A38 NM_017875.3(SLC25A38): c.12C> T (p.Asn4=) single nucleotide variant Conflicting interpretations of pathogenicity rs142420345 GRCh38 Chromosome 3, 39383736: 39383736
24 SLC25A38 NM_017875.3(SLC25A38): c.12C> T (p.Asn4=) single nucleotide variant Conflicting interpretations of pathogenicity rs142420345 GRCh37 Chromosome 3, 39425227: 39425227
25 SLC25A38 NM_017875.3(SLC25A38): c.382A> G (p.Met128Val) single nucleotide variant Benign/Likely benign rs146940902 GRCh37 Chromosome 3, 39433037: 39433037
26 SLC25A38 NM_017875.3(SLC25A38): c.382A> G (p.Met128Val) single nucleotide variant Benign/Likely benign rs146940902 GRCh38 Chromosome 3, 39391546: 39391546
27 SLC25A38 NM_017875.3(SLC25A38): c.*304C> T single nucleotide variant Uncertain significance rs113251543 GRCh38 Chromosome 3, 39396824: 39396824
28 SLC25A38 NM_017875.3(SLC25A38): c.*304C> T single nucleotide variant Uncertain significance rs113251543 GRCh37 Chromosome 3, 39438315: 39438315
29 SLC25A38 NM_017875.3(SLC25A38): c.*310A> T single nucleotide variant Benign rs12991 GRCh38 Chromosome 3, 39396830: 39396830
30 SLC25A38 NM_017875.3(SLC25A38): c.*310A> T single nucleotide variant Benign rs12991 GRCh37 Chromosome 3, 39438321: 39438321
31 SLC25A38 NM_017875.3(SLC25A38): c.*490G> A single nucleotide variant Uncertain significance rs150889211 GRCh38 Chromosome 3, 39397010: 39397010
32 SLC25A38 NM_017875.3(SLC25A38): c.*490G> A single nucleotide variant Uncertain significance rs150889211 GRCh37 Chromosome 3, 39438501: 39438501
33 SLC25A38 NM_017875.3(SLC25A38): c.*588T> A single nucleotide variant Likely benign rs6890 GRCh38 Chromosome 3, 39397108: 39397108
34 SLC25A38 NM_017875.3(SLC25A38): c.*588T> A single nucleotide variant Likely benign rs6890 GRCh37 Chromosome 3, 39438599: 39438599
35 SLC25A38 NM_017875.3(SLC25A38): c.-292G> A single nucleotide variant Uncertain significance rs142441701 GRCh38 Chromosome 3, 39383433: 39383433
36 SLC25A38 NM_017875.3(SLC25A38): c.-292G> A single nucleotide variant Uncertain significance rs142441701 GRCh37 Chromosome 3, 39424924: 39424924
37 SLC25A38 NM_017875.3(SLC25A38): c.-237G> A single nucleotide variant Uncertain significance rs527536267 GRCh38 Chromosome 3, 39383488: 39383488
38 SLC25A38 NM_017875.3(SLC25A38): c.-237G> A single nucleotide variant Uncertain significance rs527536267 GRCh37 Chromosome 3, 39424979: 39424979
39 SLC25A38 NM_017875.3(SLC25A38): c.-225G> A single nucleotide variant Uncertain significance rs370977005 GRCh38 Chromosome 3, 39383500: 39383500
40 SLC25A38 NM_017875.3(SLC25A38): c.-225G> A single nucleotide variant Uncertain significance rs370977005 GRCh37 Chromosome 3, 39424991: 39424991
41 SLC25A38 NM_017875.3(SLC25A38): c.-219T> C single nucleotide variant Uncertain significance rs886058469 GRCh38 Chromosome 3, 39383506: 39383506
42 SLC25A38 NM_017875.3(SLC25A38): c.-219T> C single nucleotide variant Uncertain significance rs886058469 GRCh37 Chromosome 3, 39424997: 39424997
43 SLC25A38 NM_017875.3(SLC25A38): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs144319567 GRCh37 Chromosome 3, 39431077: 39431077
44 SLC25A38 NM_017875.3(SLC25A38): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs144319567 GRCh38 Chromosome 3, 39389586: 39389586
45 SLC25A38 NM_017875.3(SLC25A38): c.*431G> A single nucleotide variant Uncertain significance rs73058292 GRCh38 Chromosome 3, 39396951: 39396951
46 SLC25A38 NM_017875.3(SLC25A38): c.*431G> A single nucleotide variant Uncertain significance rs73058292 GRCh37 Chromosome 3, 39438442: 39438442
47 SLC25A38 NM_017875.3(SLC25A38): c.-325G> C single nucleotide variant Uncertain significance rs886058467 GRCh38 Chromosome 3, 39383400: 39383400
48 SLC25A38 NM_017875.3(SLC25A38): c.-325G> C single nucleotide variant Uncertain significance rs886058467 GRCh37 Chromosome 3, 39424891: 39424891
49 SLC25A38 NM_017875.3(SLC25A38): c.-209A> G single nucleotide variant Likely benign rs143903497 GRCh38 Chromosome 3, 39383516: 39383516
50 SLC25A38 NM_017875.3(SLC25A38): c.-209A> G single nucleotide variant Likely benign rs143903497 GRCh37 Chromosome 3, 39425007: 39425007

Expression for Acquired Idiopathic Sideroblastic Anemia

Search GEO for disease gene expression data for Acquired Idiopathic Sideroblastic Anemia.

Pathways for Acquired Idiopathic Sideroblastic Anemia

Pathways related to Acquired Idiopathic Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 COX5A MT-CO1 SF3B1 TET2
2 10.89 COX5A MT-CO1
3 10.52 COX5A MT-CO1

GO Terms for Acquired Idiopathic Sideroblastic Anemia

Cellular components related to Acquired Idiopathic Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex IV GO:0005751 8.62 COX5A MT-CO1

Biological processes related to Acquired Idiopathic Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.16 COX5A MT-CO1
2 electron transport chain GO:0022900 8.96 COX5A MT-CO1
3 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.62 COX5A MT-CO1

Molecular functions related to Acquired Idiopathic Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.16 MT-CO1 TET2
2 electron transfer activity GO:0009055 8.96 COX5A MT-CO1
3 cytochrome-c oxidase activity GO:0004129 8.62 COX5A MT-CO1

Sources for Acquired Idiopathic Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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