AISA
MCID: ATS406
MIFTS: 46

Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 (AISA)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

MalaCards integrated aliases for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2:

Name: Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 12
Refractory Anemia with Ringed Sideroblasts 52 58 29 6 17
Acquired Idiopathic Sideroblastic Anemia 52 58
Primary Acquired Sideroblastic Anemia 52 58
Aisa 52 58
Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 12
Sideroblastic Anemia Pyridoxine-Refractory Autosomal Recessive 52
Pyridoxine Refractory Sideroblastic Anemia 52
Sideroblastic Anemia, Acquired Idiopathic 6

Characteristics:

Orphanet epidemiological data:

58
acquired idiopathic sideroblastic anemia
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

NIH Rare Diseases : 52 Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells . The iron inside red blood cells is inadequately used to make hemoglobin , despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia. It is caused by mutations in the SLC25A38 gene . It is inherited in an autosomal recessive fashion. Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine).

MalaCards based summary : Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2, also known as refractory anemia with ringed sideroblasts, is related to refractory cytopenia with multilineage dysplasia and refractory anemia. An important gene associated with Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I), and among its related pathways/superpathways is Gene Expression. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are refractory anemia with ringed sideroblasts and pallor

Disease Ontology : 12 A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has material basis in autosomal recessive inheritance of mutation in the SLC25A38 gene.

Related Diseases for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Diseases in the Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 family:

Anemia, Sideroblastic, 2, Pyridoxine-Refractory Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3

Diseases related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 refractory cytopenia with multilineage dysplasia 29.7 TET2 SF3B1
2 refractory anemia 29.3 TET2 SF3B1
3 myelodysplastic syndrome 29.2 TET2 SF3B1
4 chronic myelomonocytic leukemia 29.2 TET2 SF3B1
5 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 12.7
6 anemia, sideroblastic, 3, pyridoxine-refractory 11.7
7 sideroblastic anemia 10.8
8 deficiency anemia 10.6
9 essential thrombocythemia 10.6
10 myeloproliferative neoplasm 10.6
11 myelodysplastic/myeloproliferative neoplasm 10.6
12 leukemia, acute myeloid 10.5
13 myelofibrosis 10.4
14 polycythemia vera 10.4
15 polycythemia 10.4
16 acute leukemia 10.3
17 anemia, sideroblastic, 1 10.3
18 anemia, sideroblastic, and spinocerebellar ataxia 10.3
19 lymphocytic leukemia 10.3
20 neutropenia 10.3
21 pancytopenia 10.2
22 chromosomal triplication 10.2
23 alcohol dependence 10.1
24 erythroleukemia, familial 10.1
25 fetal hemoglobin quantitative trait locus 1 10.1
26 leukemia, chronic lymphocytic 10.1
27 protoporphyria, erythropoietic, 1 10.1
28 down syndrome 10.1
29 lymphoma, hodgkin, classic 10.1
30 lymphoma, non-hodgkin, familial 10.1
31 acute promyelocytic leukemia 10.1
32 leukemia, acute lymphoblastic 10.1
33 beta-thalassemia 10.1
34 thrombosis 10.1
35 thalassemia 10.1
36 iron deficiency anemia 10.1
37 iron metabolism disease 10.1
38 thrombophilia 10.1
39 hemoglobinopathy 10.1
40 myeloid leukemia 10.1
41 hypereosinophilic syndrome 10.1
42 acute erythroid leukemia 10.1
43 myelodysplastic syndrome with excess blasts 10.1
44 refractory anemia with excess blasts in transformation 10.1
45 aregenerative anemia 10.1
46 precursor t-cell acute lymphoblastic leukemia 10.1
47 hemochromatosis, type 1 10.1
48 hemosiderosis 10.1
49 thrombocytopenia 10.1
50 thrombocytosis 10.1

Graphical network of the top 20 diseases related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2:



Diseases related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Symptoms & Phenotypes for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Human phenotypes related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 refractory anemia with ringed sideroblasts 58 31 hallmark (90%) Very frequent (99-80%) HP:0004828
2 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
3 normocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001897
4 normochromic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001895
5 megaloblastic erythroid hyperplasia 58 31 frequent (33%) Frequent (79-30%) HP:0200143
6 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
7 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
8 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
9 hypochromic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001931
10 chronic infection 58 31 occasional (7.5%) Occasional (29-5%) HP:0031035
11 hyposegmentation of neutrophil nuclei 58 31 occasional (7.5%) Occasional (29-5%) HP:0011447
12 dysplastic granulopoesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012136
13 abnormal number of granulocyte precursors 58 31 occasional (7.5%) Occasional (29-5%) HP:0012137
14 abnormal fingernail morphology 31 occasional (7.5%) HP:0001231
15 pancytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001876
16 bone marrow hypocellularity 58 31 very rare (1%) Very rare (<4-1%) HP:0005528
17 abnormal bleeding 58 31 very rare (1%) Very rare (<4-1%) HP:0001892
18 acute myeloid leukemia 58 31 very rare (1%) Very rare (<4-1%) HP:0004808
19 congestive heart failure 58 31 very rare (1%) Very rare (<4-1%) HP:0001635
20 neutropenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001875
21 thrombocytosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001894
22 leukocytosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001974
23 increased megakaryocyte count 58 31 very rare (1%) Very rare (<4-1%) HP:0005513
24 granulocytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001913
25 myelodysplasia 58 Occasional (29-5%)
26 abnormality of the fingernails 58 Occasional (29-5%)
27 abnormal megakaryocyte morphology 58 Occasional (29-5%)
28 anemia of inadequate production 58 Very frequent (99-80%)
29 erythroid hyperplasia 58 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Drugs for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 146)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
3 Iron Chelating Agents Phase 4
4 Chelating Agents Phase 4
5
Idarubicin Approved Phase 3 58957-92-9 42890
6
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
7
leucovorin Approved Phase 3 58-05-9 6006 143
8
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
9
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
10
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
11
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
12 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
13
Lenograstim Approved, Investigational Phase 3 135968-09-1
14
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
15
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
16
Daunorubicin Approved Phase 3 20830-81-3 30323
17
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
18
Thioguanine Approved Phase 3 154-42-7 2723601
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
20
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
21 Topoisomerase Inhibitors Phase 3
22 Hormones Phase 2, Phase 3
23 Anti-Inflammatory Agents Phase 3
24 Gastrointestinal Agents Phase 2, Phase 3
25 Adjuvants, Immunologic Phase 3
26 Protective Agents Phase 2, Phase 3
27 Folic Acid Antagonists Phase 3
28 Folate Phase 3
29 Vitamin B9 Phase 3
30 Vitamin B Complex Phase 3
31 Antiviral Agents Phase 3
32 Methylprednisolone Acetate Phase 2, Phase 3
33 Antiemetics Phase 2, Phase 3
34 Hormone Antagonists Phase 2, Phase 3
35 Neuroprotective Agents Phase 2, Phase 3
36 Autonomic Agents Phase 2, Phase 3
37 glucocorticoids Phase 2, Phase 3
38 Hydrocortisone hemisuccinate Phase 3
39 Hydrocortisone 17-butyrate 21-propionate Phase 3
40 Hydrocortisone-17-butyrate Phase 3
41
asparaginase Phase 3
42
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
43
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
44
Etanercept Approved, Investigational Phase 2 185243-69-0
45
Amifostine Approved, Investigational Phase 2 20537-88-6 2141
46
Infliximab Approved Phase 2 170277-31-3
47
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
48
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
49
Bexarotene Approved, Investigational Phase 2 153559-49-0 82146
50
Tocopherol Approved, Investigational Phase 1, Phase 2 1406-66-2, 54-28-4 14986

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 A One-year, Open-label, Single Arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 in Patients Diagnosed With Low and INT-1 Risk Myelodysplastic Syndrome (MDS) and Transfusion-dependent Iron Overload Completed NCT00481143 Phase 4 ICL670/Deferasirox
2 Intravenous Low-Dose Decitabine Versus Supportive Care in Elderly Patients With Primary Myelodysplastic Syndrome (MDS) (>10% Blasts or High-Risk Cytogenetics), Secondary MDS or Chronic Myelomonocytic Leukemia (CMML) Who Are Not Eligible for Intensive Therapy: An EORTC-German MDS Study Group Randomized Phase III Study Unknown status NCT00043134 Phase 3 decitabine
3 Autologous Peripheral Blood Stem Cell Transplantation (PSCT) Versus a Second Intensive Consolidation Course After a Common Induction and Consolidation Course in Patients With Bad Prognosis Myelodysplastic Syndromes (MDS) and Acute Myelogenous Leukemia Secondary (SAML) to MDS of More Acute Than 6 Months Duration Unknown status NCT00002926 Phase 3 cytarabine;etoposide;idarubicin
4 Antithymocyte Globulin (ATG) and Cyclosporine (CSA) to Treat Patients With Myelodysplastic Syndrome (MDS). A Randomized Trial Comparing ATG + CSA With Best Supportive Care Completed NCT00004208 Phase 3 ATG + CSA
5 A Randomized Multicentre Study Comparing G-CSF Mobilized Peripheral Blood and G-CSF Stimulated Bone Marrow in Patients Undergoing Matched Sibling Transplantation for Hematologic Malignancies Completed NCT00438958 Phase 3
6 Treatment of Children With Down Syndrome (DS) and Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome (MDS), and Transient Myeloproliferative Disorder (TMD): A Phase III Group-Wide Study Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
7 The Unrelated Donor Marrow Transplantation Trial Completed NCT00003187 Phase 2, Phase 3 cyclophosphamide;cyclosporine;cytarabine;methotrexate;methylprednisolone
8 A Phase II Trial of Ethyol (Amifostine) in Adult Patients With Advanced Myelodysplastic Syndromes Unknown status NCT00003123 Phase 2 amifostine trihydrate
9 Phase 2 Study of Proteinase 3 PR1 Peptide Mixed With Montanide ISA 51 VG Adjuvant and Administered With GM-CSF in Low Risk and Intermediate-1 MDS Unknown status NCT00513578 Phase 2
10 Phase Two Multicenter Study Of Arsenic Trioxide In Patients With Myelodysplastic Syndromes Unknown status NCT00020969 Phase 2 arsenic trioxide
11 Phase II Multicenter Study of Amifostine in Patients With Myelodysplastic Syndromes at Relatively Low Risk of Developing Acute Leukemia Unknown status NCT00003681 Phase 2 amifostine trihydrate
12 A Randomized Study Of The Safety And Efficacy Of Two Dose Schedules Of Gemcituzumab Ozogamicin In Patients With Intermediate-2 Or High-Risk Myelodysplastic Syndromes Unknown status NCT00022321 Phase 2 gemtuzumab ozogamicin
13 A Randomized Phase II Trial of Oral Topotecan Given Twice a Day for 5 Days or Once a Day for 10 Days to Patients With Myelodysplastic Syndromes (MDS) Completed NCT00003675 Phase 2 topotecan hydrochloride
14 A Phase II Pilot Study of VELCADE in Patients With MDS Completed NCT00262873 Phase 2 bortezomib
15 A Phase II Trial Of Paricalcitol In Myelodysplastic Syndromes Completed NCT00064376 Phase 2 paricalcitol
16 Therapy of Myelodysplastic Syndrome (MDS) With Antithymocyte Globulin (ATG) and TNFR:Fc Completed NCT00005853 Phase 2
17 Phase II Study With Decitabine (5-aza-2'-Deoxycytidine, DAC) in Myelodysplastic Syndromes Completed NCT00003361 Phase 2 decitabine
18 Phase II Clinical Evaluation of Bryostatin 1 in Patients With Myelodysplastic Syndrome Completed NCT00003171 Phase 2 bryostatin 1
19 Randomized Phase II Trial With Infliximab (Remicade) in Patients With Myelodysplastic Syndrome and a Relatively Low Risk of Developing Acute Leukemia Completed NCT00074074 Phase 2
20 A Randomized, Multi-Center, Double-Blind, Placebo-Controlled Trial Assessing The Safety And Efficacy Of Thalidomide (THALOMID) For The Treatment Of Anemia In Red Blood Cell Transfusion-Dependent Patients With Myelodysplastic Syndromes Completed NCT00030550 Phase 2 thalidomide
21 Allogeneic Peripheral Blood Stem Cell (PBSC) Transplantation for the Treatment of "Less Advanced" Myelodysplasi Completed NCT00024050 Phase 2 busulfan;cyclophosphamide;cyclosporine;methotrexate
22 Safety and Efficacy Trial of Bevacizumab: Anti-VEGF Humanized Monoclonal Antibody (NSC 704865) Therapy for Myelodysplastic Syndrome (MDS) Completed NCT00022048 Phase 1, Phase 2
23 A Phase II Study of Anti-Thymocyte Globulin and Cyclosporine for Patients With Myelodysplastic Syndrome (MDS) Completed NCT00016419 Phase 2 cyclosporine
24 A Phase II Study of Bexarotene + Sargromastastin as Agents of Differentiation in MDS and AML Completed NCT00425477 Phase 2 bexarotene
25 HLA-HAPLOIDENTICAL FAMILIAL DONOR HEMATOPOIETIC CELL TRANSPLANTATION AFTER REDUCED INTENSITY CONDITIONING OF BUSULFAN, FLUDARABINE, AND ANTI-THYMOCYTE GLOBULIN FOR PATIENTS WITH BONE MARROW FAILURE SYNDROME - A PHASE 2 STUDY Completed NCT00731328 Phase 2
26 A Phase II Study of an Oral VEGF Receptor Tyrosine Kinase Inhibitor (PTK787/ZK222584) (IND #66370, NSC #719335) in Myelodysplastic Syndrome (MDS) Completed NCT00072475 Phase 2 vatalanib
27 Fludarabine And Busulfan As Conditioning For Patients With Chronic Myeloid Leukemia Or Myelodysplastic Syndrome Transplanted With Hematopoietic Stem Cells From HLA-Compatible Related Or Unrelated Donors Completed NCT00027924 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate
28 A Phase II Study Of Amifostine In Children With Myelodysplastic Syndrome Completed NCT00098683 Phase 2 amifostine trihydrate
29 Phase II Study of High-Dose Busulfan and Cyclophosphamide Followed by Allogeneic Bone Marrow Transplantation for Patients With Acute Myelogenous Leukemia Completed NCT00004896 Phase 2 busulfan;cyclophosphamide
30 A Phase I/II Combination Study of Topotecan, Fludarabine, Cytosine Arabinoside and G-CSF (T-FLAG) Induction Therapy in Patients With Poor Prognosis AML, MDS and Relapsed/Refractory ALL Followed by Maintenance of Either PBSC Transplant or 13 Cis-Retinoic Acid Completed NCT00003619 Phase 1, Phase 2 busulfan;cytarabine;etoposide;fludarabine phosphate;isotretinoin;topotecan hydrochloride
31 Hematopoietic Stem Cell Transplantation Using Bone Marrow Or Peripheral Blood Stem Cells From Matched, Unrelated, Volunteer Donors Completed NCT00054327 Phase 2 busulfan;cyclophosphamide;cytarabine;Etoposide
32 A Phase II Study of Reduced Intensity Allogeneic Bone Marrow Transplant for the Treatment of Myelodysplastic Syndromes Completed NCT00045305 Phase 2 Cyclosporine;Methotrexate;Photopheresis;Mycofenolate mofetil;Pentostatin
33 Allogeneic Bone Marrow Transplantation Using Closely Matched Related and Unrelated Donors Completed NCT00005622 Phase 2 cyclophosphamide
34 A Multicenter Study of Unrelated Umbilical Cord Blood as an Alternate Source of Stem Cells for Transplantation Completed NCT00003913 Phase 2 busulfan;cyclophosphamide;methylprednisolone
35 A Pilot Study of Unrelated Umbilical Cord Blood Transplantation in Adults and Children With Bone Marrow Failure Syndromes or Inherited Metabolic or Hematologic Diseases Completed NCT00003662 Phase 2 busulfan;cyclophosphamide;cyclosporine;melphalan;methylprednisolone
36 A Pilot Study of Unrelated Umbilical Cord Blood Transplantation in Patients With Severe Aplastic Anemia, Inborn Errors in Metabolism, or Inherited Hematologic Stem Cell Disorders Completed NCT00003336 Phase 2 busulfan;cyclophosphamide;melphalan;methylprednisolone
37 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
38 A Phase II Study of the Combination of Tacrolimus and Mycophenolate Mofetil for the Prevention of Acute Graft-Versus-Host Disease Completed NCT00096096 Phase 2 mycophenolate mofetil;tacrolimus
39 Allogeneic Bone Marrow Transplantation for Hematologic Malignancies: A Treatment Approach Based on Risk of Relapse and Toxicity Completed NCT00005797 Phase 2 busulfan;Cyclophosphamide;VP-16
40 Allogeneic Peripheral Blood Stem Cell Transplantation Using a Non-Myeloablative Preparative Regimen for Patients With Hematologic Malignancies Completed NCT00004145 Phase 2 cyclophosphamide;fludarabine phosphate
41 BUSULFAN AND CYCLOPHOSPHAMIDE FOR CYTOREDUCTION OF PATIENTS WITH ACUTE AND CHRONIC LEUKEMIAS AND MYELODYSPLASTIC SYNDROMES UNDERGOING ALLOGENEIC BONE MARROW TRANSPLANTATION WHO CANNOT BE TREATED WITH TOTAL BODY IRRADIATION Completed NCT00002502 Phase 2 busulfan;cyclophosphamide;cytarabine
42 Reduced Intensity Stem Cell Transplantation (RIST) for Patients With Hematological Malignancies Conditioned With Fludarabine and Busulfan Completed NCT00619645 Phase 2 busulfan;cyclosporine;fludarabine phosphate;mycophenolate mofetil
43 Transplantation of Umbilical Cord Blood From Unrelated Donors in Patients With Hematological Diseases Using a Non-Myeloablative Preparative Regimen Completed NCT00365287 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;fludarabine phosphate;mycophenolate mofetil
44 Non-Myeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Hematologic Malignancies in High Risk Patients and in Patients With Debilitating Hematologic Diseases Active, not recruiting NCT00003838 Phase 2
45 Safety and Immunogenicity of the DNMT Inhibitor Azacytidine During Anti-Tuberculosis Therapy Not yet recruiting NCT03941496 Phase 2 Azacitidine Injection [Vidaza] - Phase A Group;Azacitidine Injection [Vidaza] - Phase B Group;Azacitidine Injection [Vidaza] - Phase C Group;Azacitidine Injection [Vidaza] - Phase D Group
46 Phase II Trial of Arsenic Trioxide and Dose-Escalated Cholecalciferol in Myelodysplastic Syndrome Terminated NCT00104806 Phase 2 arsenic trioxide
47 Phase II Study of 5-azacytidine and Lintuzumab in Myelodysplastic Syndromes (MDS) Terminated NCT00997243 Phase 2 5-azacytidine
48 Combination of Azacitadine and Hematopoietic Growth Factors for Myelodysplastic Syndrome Terminated NCT00398047 Phase 2 Azacitadine and Hematopoietic Growth Factors
49 T-Cell Depletion for Graft-Versus-Host Disease (GVHD) Prevention in High Risk Matched and Mismatched Allogeneic Bone Marrow Transplantation Terminated NCT00005641 Phase 2 busulfan;cyclophosphamide;cyclosporine;leucovorin calcium;methotrexate;methylprednisolone
50 Transplantation of Unrelated Donor Umbilical Cord Blood in Patients With Hematological Malignancies Using a Non-Myeloablative Preparative Regimen Terminated NCT00719849 Phase 2 cyclophosphamide;cyclosporine;fludarabine phosphate;mycophenolate mofetil

Search NIH Clinical Center for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Genetic Tests for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Genetic tests related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2:

# Genetic test Affiliating Genes
1 Refractory Anemia with Ringed Sideroblasts (clinical) 29

Anatomical Context for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

MalaCards organs/tissues related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2:

40
Bone, Bone Marrow, Myeloid, T Cells, Neutrophil, Spinal Cord, Heart

Publications for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Articles related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2:

(show top 50) (show all 165)
# Title Authors PMID Year
1
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. 6
9389715 1997
2
The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGFβ signaling in zebrafish. 61
31300417 2019
3
Five-day regimen of azacitidine for lower-risk myelodysplastic syndromes (refractory anemia or refractory anemia with ringed sideroblasts): A prospective single-arm phase 2 trial. 61
30007103 2018
4
SF3B1 deficiency impairs human erythropoiesis via activation of p53 pathway: implications for understanding of ineffective erythropoiesis in MDS. 61
29433555 2018
5
Transcriptome analysis of CD34+ cells from myelodysplastic syndrome patients. 61
28982058 2017
6
Enhanced plasma protein carbonylation in patients with myelodysplastic syndromes. 61
28300669 2017
7
Splicing factor mutations in MDS RARS and MDS/MPN-RS-T. 61
28466384 2017
8
Detection of erythroblast antibodies in mitogen-stimulated bone marrow cultures from patients with myelodysplastic syndromes. 61
27232106 2016
9
Abnormalities in the T cell receptor Vδ repertoire and Foxp3 expression in refractory anemia with ringed sideroblasts. 61
26154600 2015
10
Marked Hematopoiesis Masquerading Multiple Bone Metastasis in a Lung Cancer Patient With Myelodysplastic Syndrome. 61
26018680 2015
11
An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report. 61
25621045 2015
12
Plasma Protein Biomarker Candidates for Myelodysplastic Syndrome Subgroups. 61
26448929 2015
13
Cytogenetics and clinical features of pediatric myelodysplastic syndrome in Japan. 61
25261124 2014
14
Impact of the International Prognostic Scoring System cytogenetic risk groups on the outcome of patients with primary myelodysplastic syndromes undergoing allogeneic stem cell transplantation from human leukocyte antigen-identical siblings: a retrospective analysis of the European Society for Blood and Marrow Transplantation-Chronic Malignancies Working Party. 61
25085359 2014
15
Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia. 61
24735968 2014
16
[Copper deficiency anemia morphologically mimicking myelodysplastic syndrome]. 61
24681939 2014
17
Complete resolution of steroid-resistant organizing pneumonia associated with myelodysplastic syndrome following allogeneic hematopoietic cell transplantation. 61
25140286 2014
18
Transfusion-dependent low-risk myelodysplastic patients receiving deferasirox: Long-term follow-up. 61
24260074 2013
19
The evaluation of iron overload through hepcidin level and its related factors in myelodysplastic syndromes. 61
23540794 2013
20
Plasma proteome changes associated with refractory anemia and refractory anemia with ringed sideroblasts in patients with myelodysplastic syndrome. 61
23566303 2013
21
[Myelodysplastic syndrome classification]. 61
23587576 2013
22
Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases. 61
24399021 2013
23
Aberrant promoter methylation of Dab2 gene in myelodysplastic syndrome. 61
23005040 2012
24
Peculiarities in the Diagnosis Approach of MDS /MPN-U Patients. 61
23401728 2012
25
Tumor suppressor gene BLU is frequently downregulated by promoter hypermethylation in myelodysplastic syndrome. 61
22246278 2012
26
High frequency of human leukocyte antigen class II DRB1*1602 haplotype in Greek patients with myelodysplastic syndrome and of DRB1*1501 in the low-risk subgroup. 61
22244918 2012
27
[Refractory anemia with ringed sideroblasts and thrombocytosis: a case report]. 61
22339827 2011
28
Over-expression of mitochondrial ferritin affects the JAK2/STAT5 pathway in K562 cells and causes mitochondrial iron accumulation. 61
21712541 2011
29
Reduced-toxicity conditioning with treosulfan and fludarabine in allogeneic hematopoietic stem cell transplantation for myelodysplastic syndromes: final results of an international prospective phase II trial. 61
21659356 2011
30
Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13). 61
21380928 2011
31
Immunosuppressive therapy for patients with myelodysplastic syndrome: a prospective randomized multicenter phase III trial comparing antithymocyte globulin plus cyclosporine with best supportive care--SAKK 33/99. 61
21149672 2011
32
Hepcidin levels and their determinants in different types of myelodysplastic syndromes. 61
21886780 2011
33
Acquired mutation of the tyrosine kinase JAK2V617F in Egyptian patients with myeloid disorders. 61
21034166 2011
34
Screening for hotspot mutations in PI3K, JAK2, FLT3 and NPM1 in patients with myelodysplastic syndromes. 61
21789382 2011
35
Refractory anemia with ringed sideroblasts: more than meets the eye. 61
20713854 2010
36
[Clinical and biological features in refractory anemia with ringed sideroblasts with fluctuant platelet counts]. 61
20723324 2010
37
Identification of protein-coding and non-coding RNA expression profiles in CD34+ and in stromal cells in refractory anemia with ringed sideroblasts. 61
20633296 2010
38
[Chronic myeloid neoplasms. Diagnostic criteria and current therapeutic concepts]. 61
20076959 2010
39
Treatment of transfusional iron overload in patients with myelodysplastic syndrome or severe anemia: data from multicenter clinical practices. 61
19719471 2010
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Neighborhood socioeconomic status influences the survival of elderly patients with myelodysplastic syndromes in the United States. 61
19455395 2009
41
Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. 61
19692701 2009
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[Re-evaluation of classification of myelodysplastic syndromes with low percentage bone marrow blasts]. 61
19563026 2009
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A Phase II intra-patient dose-escalation trial of weight-based darbepoetin alfa with or without granulocyte-colony stimulating factor in myelodysplastic syndromes. 61
19006226 2009
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Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status. 61
18820995 2008
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Neither serum ferritin nor the number of red blood cell transfusions affect overall survival in refractory anemia with ringed sideroblasts. 61
18442062 2008
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[WHO classification and cytogenetic analysis of 435 cases with myelodysplastic syndrome]. 61
19040061 2008
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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. 61
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48
Analysis of mitochondrial DNA in 104 patients with myelodysplastic syndromes. 61
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Karyotypic analysis of bone marrow cells in pyodermic lesions associated with myelodysplastic syndrome. 61
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Detection of CD55- and CD59-deficient granulocytic populations in patients with myelodysplastic syndrome. 61
18158579 2008

Variations for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

ClinVar genetic disease variations for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-CO1 m.6742T>CSNV Pathogenic 9664 rs199476126 MT:6742-6742 MT:6742-6742
2 MT-CO1 m.6721T>CSNV Pathogenic 9665 rs199476127 MT:6721-6721 MT:6721-6721
3 SLC25A38 NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)SNV Conflicting interpretations of pathogenicity 345143 rs142420345 3:39425227-39425227 3:39383736-39383736
4 SLC25A38 NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)SNV Conflicting interpretations of pathogenicity 345145 rs144149294 3:39431961-39431961 3:39390470-39390470
5 SLC25A38 NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)SNV Conflicting interpretations of pathogenicity 345149 rs369980078 3:39433349-39433349 3:39391858-39391858
6 SLC25A38 NM_017875.4(SLC25A38):c.*404G>ASNV Uncertain significance 345155 rs886058473 3:39438415-39438415 3:39396924-39396924
7 SLC25A38 NM_017875.4(SLC25A38):c.*304C>TSNV Uncertain significance 345152 rs113251543 3:39438315-39438315 3:39396824-39396824
8 SLC25A38 NM_017875.4(SLC25A38):c.*490G>ASNV Uncertain significance 345158 rs150889211 3:39438501-39438501 3:39397010-39397010
9 SLC25A38 NM_017875.4(SLC25A38):c.-69C>TSNV Uncertain significance 345142 rs886058470 3:39425147-39425147 3:39383656-39383656
10 SLC25A38 NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)SNV Uncertain significance 345146 rs765578993 3:39432943-39432943 3:39391452-39391452
11 SLC25A38 NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)SNV Uncertain significance 345148 rs143865753 3:39433101-39433101 3:39391610-39391610
12 SLC25A38 NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)SNV Uncertain significance 345150 rs886058471 3:39433457-39433457 3:39391966-39391966
13 SLC25A38 NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)SNV Uncertain significance 345151 rs764125735 3:39435927-39435927 3:39394436-39394436
14 SLC25A38 NM_017875.4(SLC25A38):c.*370C>TSNV Uncertain significance 345154 rs886058472 3:39438381-39438381 3:39396890-39396890
15 SLC25A38 NM_017875.4(SLC25A38):c.-227G>ASNV Uncertain significance 345137 rs886058468 3:39424989-39424989 3:39383498-39383498
16 SLC25A38 NM_017875.4(SLC25A38):c.-161G>ASNV Uncertain significance 345141 rs528990278 3:39425055-39425055 3:39383564-39383564
17 SLC25A38 NM_017875.4(SLC25A38):c.-292G>ASNV Uncertain significance 345135 rs142441701 3:39424924-39424924 3:39383433-39383433
18 SLC25A38 NM_017875.4(SLC25A38):c.-237G>ASNV Uncertain significance 345136 rs527536267 3:39424979-39424979 3:39383488-39383488
19 SLC25A38 NM_017875.4(SLC25A38):c.-225G>ASNV Uncertain significance 345138 rs370977005 3:39424991-39424991 3:39383500-39383500
20 SLC25A38 NM_017875.4(SLC25A38):c.-219T>CSNV Uncertain significance 345139 rs886058469 3:39424997-39424997 3:39383506-39383506
21 SLC25A38 NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)SNV Uncertain significance 345144 rs144319567 3:39431077-39431077 3:39389586-39389586
22 SLC25A38 NM_017875.4(SLC25A38):c.*431G>ASNV Uncertain significance 345156 rs73058292 3:39438442-39438442 3:39396951-39396951
23 SLC25A38 NM_017875.4(SLC25A38):c.-325G>CSNV Uncertain significance 345133 rs886058467 3:39424891-39424891 3:39383400-39383400
24 SLC25A38 NM_017875.4(SLC25A38):c.-209A>GSNV Likely benign 345140 rs143903497 3:39425007-39425007 3:39383516-39383516
25 SLC25A38 NM_017875.4(SLC25A38):c.*809C>TSNV Likely benign 369419 rs71325527 3:39438820-39438820 3:39397329-39397329
26 SLC25A38 NM_017875.4(SLC25A38):c.-303A>CSNV Likely benign 345134 rs114422738 3:39424913-39424913 3:39383422-39383422
27 SLC25A38 NM_017875.4(SLC25A38):c.*588T>ASNV Likely benign 345159 rs6890 3:39438599-39438599 3:39397108-39397108
28 SLC25A38 NM_017875.4(SLC25A38):c.*472G>TSNV Likely benign 345157 rs141567816 3:39438483-39438483 3:39396992-39396992
29 SLC25A38 NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)SNV Benign/Likely benign 345147 rs146940902 3:39433037-39433037 3:39391546-39391546
30 SLC25A38 NM_017875.4(SLC25A38):c.165G>A (p.Leu55=)SNV Benign 281680 rs2270770 3:39431081-39431081 3:39389590-39389590
31 SLC25A38 NM_017875.4(SLC25A38):c.*642deldeletion Benign 345160 rs34288981 3:39438645-39438645 3:39397154-39397154
32 SLC25A38 NM_017875.4(SLC25A38):c.*310A>TSNV Benign 345153 rs12991 3:39438321-39438321 3:39396830-39396830
33 SLC25A38 GRCh37/hg19 3p22.1(chr3:39423783-39438788)x3copy number gain not provided 441053 3:39423783-39438788

Expression for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Search GEO for disease gene expression data for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2.

Pathways for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Pathways related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 TET2 SF3B1 MT-CO1

GO Terms for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Molecular functions related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 TET2 MT-CO1

Sources for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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