AISA
MCID: ATS406
MIFTS: 37

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 54 60 30 6 17
Acquired Idiopathic Sideroblastic Anemia 54 60
Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 12
Sideroblastic Anemia Pyridoxine-Refractory Autosomal Recessive 54
Pyridoxine Refractory Sideroblastic Anemia 54
Sideroblastic Anemia, Acquired Idiopathic 6
Primary Acquired Sideroblastic Anemia 60
Aisa 60

Characteristics:

Orphanet epidemiological data:

60
acquired idiopathic sideroblastic anemia
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060065
ICD10 via Orphanet 35 D64.3
UMLS via Orphanet 75 C1264195
Orphanet 60 ORPHA75564

Summaries for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

NIH Rare Diseases : 54 Sideroblastic anemia pyridoxine-refractory autosomal recessiveis an inheritedblood 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 myelodysplastic syndrome and leukemia, acute myeloid. 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.

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 Anemia, Sideroblastic, 2, Pyridoxine-Refractory family:

Anemia, Sideroblastic, 3, Pyridoxine-Refractory Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2
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 all 33)
# Related Disease Score Top Affiliating Genes
1 myelodysplastic syndrome 32.2 SF3B1 TET2
2 leukemia, acute myeloid 29.4 SF3B1 TET2
3 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 12.5
4 anemia, sideroblastic, 3, pyridoxine-refractory 11.6
5 refractory anemia 11.1
6 thrombocytosis 10.9
7 sideroblastic anemia 10.6
8 deficiency anemia 10.4
9 chronic myelomonocytic leukemia 10.3
10 essential thrombocythemia 10.3
11 pdgfrb-associated chronic eosinophilic leukemia 10.3
12 leukemia 10.2
13 leukemia, chronic lymphocytic 2 10.1
14 leukemia, chronic lymphocytic 10.1
15 lymphoma, hodgkin, classic 10.1
16 lymphoma, non-hodgkin, familial 10.1
17 acute promyelocytic leukemia 10.1
18 acute erythroid leukemia 10.1
19 neutropenia 10.1
20 lymphoma 10.1
21 thrombosis 10.1
22 lymphocytic leukemia 10.1
23 iron deficiency anemia 10.1
24 hemosiderosis 10.1
25 pancytopenia 10.1
26 myeloproliferative neoplasm 10.1
27 iron metabolism disease 10.1
28 myeloid leukemia 10.1
29 leukemia, b-cell, chronic 10.1
30 splenomegaly 10.1
31 acute leukemia 10.1
32 lymphosarcoma 10.1
33 gnathomiasis 9.7 MT-CO1 TET2

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

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 164)
# 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
Sargramostim Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 123774-72-1, 83869-56-1
6
Lenograstim Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 135968-09-1
7
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
8
Etoposide Approved Phase 3,Phase 1,Phase 2 33419-42-0 36462
9
Cytarabine Approved, Experimental, Investigational Phase 3,Phase 2,Phase 1 147-94-4, 65-46-3 6253
10
Idarubicin Approved Phase 3 58957-92-9 42890
11
Decitabine Approved, Investigational Phase 3,Phase 1,Phase 2 2353-33-5 451668
12
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
13
Fludarabine Approved Phase 3,Phase 2,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
14
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
15
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 6055-19-2, 50-18-0 2907
16
Thioguanine Approved Phase 3 154-42-7 2723601
17
Methotrexate Approved Phase 3,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
18
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 55-98-1 2478
19
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
20
leucovorin Approved Phase 3,Phase 2,Not Applicable 58-05-9 6006 143
21
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
22
Aldesleukin Approved Phase 3,Phase 1 85898-30-2, 110942-02-4
23
Daunorubicin Approved Phase 3 20830-81-3 30323
24
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
25
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Not Applicable 83-43-2 6741
26
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3,Not Applicable 2921-57-5
27
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Not Applicable 50-24-8 5755
28
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3,Not Applicable 302-25-0
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Not Applicable 59-30-3 6037
30
Prednisolone hemisuccinate Experimental Phase 2, Phase 3,Not Applicable 2920-86-7
31 Pharmaceutical Solutions Phase 2, Phase 3
32 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
33 Adjuvants, Immunologic Phase 2, Phase 3,Phase 3,Phase 1
34 Epoetin alfa Phase 2, Phase 3 113427-24-0
35 Hematinics Phase 2, Phase 3
36 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
37 Antiviral Agents Phase 3,Phase 2,Phase 1
38 Etoposide phosphate Phase 3,Phase 1,Phase 2
39 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
40 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
41 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
42 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
43 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Not Applicable
44 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
45 Antineoplastic Agents, Phytogenic Phase 3,Phase 1,Phase 2
46 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
47 Dermatologic Agents Phase 3,Phase 2,Phase 1,Not Applicable
48 Antifungal Agents Phase 3,Phase 2,Phase 1,Not Applicable
49 Cyclosporins Phase 3,Phase 2,Phase 1,Not Applicable
50 Calcineurin Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable

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 Vorinostat, Tacrolimus, and Methotrexate in Preventing GVHD After Stem Cell Transplant in Patients With Hematological Malignancies Completed NCT01789255 Phase 2 vorinostat;tacrolimus;cyclosporine;methotrexate
17 A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies Recruiting NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
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 Iodine I 131 Monoclonal Antibody BC8, Fludarabine Phosphate, Total Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients With Advanced Acute Myeloid Leukemia or Myelodysplastic Syndrome Active, not recruiting NCT00119366 Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
22 Mycophenolate Mofetil and Cyclosporine in Reducing Graft-Versus-Host Disease in Patients With Hematologic Malignancies or Metastatic Kidney Cancer Undergoing Donor Stem Cell Transplant Active, not recruiting NCT00078858 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
23 Thalidomide in Treating Patients With Myelodysplastic Syndrome Completed NCT00015990 Phase 2 thalidomide
24 Total-Body Irradiation and Fludarabine Phosphate Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies or Kidney Cancer Active, not recruiting NCT00027820 Phase 1, Phase 2 Fludarabine Phosphate;Cyclosporine;Mycophenolate Mofetil
25 Infliximab in Treating Patients With Myelodysplastic Syndrome Completed NCT00074074 Phase 2
26 Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Myelodysplastic Syndrome Completed NCT00024050 Phase 2 busulfan;cyclophosphamide;cyclosporine;methotrexate
27 S0020 Immunosuppressive Therapy in Treating Patients With Myelodysplastic Syndrome Completed NCT00016419 Phase 2 cyclosporine
28 Bortezomib in Treating Patients With Myelodysplastic Syndromes Completed NCT00262873 Phase 2 bortezomib
29 Amifostine in Treating Young Patients With Newly Diagnosed De Novo Myelodysplastic Syndromes Completed NCT00098683 Phase 2 amifostine trihydrate
30 Donor Stem Cell Transplant After Busulfan, Fludarabine, Methylprednisolone, and Antithymocyte Globulin in Treating Patients With Bone Marrow Failure Syndrome Completed NCT00731328 Phase 2
31 Reduced Intensity Chemotherapy and Radiation Therapy Before Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies Recruiting NCT02566304 Phase 2 Fludarabine;Cyclophosphamide;Tacrolimus;Mycophenolate mofetil
32 Azacitidine, Darbepoetin Alfa, and Erythropoietin and Filgastrim (G-CSF) in Treating Patients With Myelodysplastic Syndromes Terminated NCT00398047 Phase 2 Azacitadine and Hematopoietic Growth Factors
33 Topotecan in Treating Patients With Myelodysplastic Syndrome Completed NCT00003675 Phase 2 topotecan hydrochloride
34 Bryostatin 1 in Treating Patients With Myelodysplastic Syndrome Completed NCT00003171 Phase 2 bryostatin 1
35 Decitabine in Treating Patients With Myelodysplastic Syndrome Completed NCT00003361 Phase 2 decitabine
36 Vatalanib in Treating Patients With Primary or Secondary Myelodysplastic Syndromes Completed NCT00072475 Phase 2 vatalanib
37 Thalidomide in Treating Anemia in Patients With Myelodysplastic Syndrome Completed NCT00030550 Phase 2 thalidomide
38 Bevacizumab in Treating Patients With Myelodysplastic Syndrome Completed NCT00022048 Phase 1, Phase 2
39 Biological Therapy in Treating Patients With Myelodysplastic Syndrome Completed NCT00005853 Phase 2
40 Pilot Study Of Unrelated UCB Transplant for Non-Malignant Hematologic Conditions Completed NCT00003336 Phase 2 busulfan;cyclophosphamide;melphalan;methylprednisolone
41 Donor Peripheral Stem Cell Transplant, Fludarabine, and Busulfan in Treating Patients With Hematologic Cancers Completed NCT00619645 Phase 2 busulfan;cyclosporine;fludarabine phosphate;mycophenolate mofetil
42 Fludarabine Phosphate and Total Body Irradiation Followed by a Donor Peripheral Stem Cell Transplant in Treating Patients With Myelodysplastic Syndromes or Myeloproliferative Disorders Active, not recruiting NCT00397813 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
43 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
44 Vorinostat and Azacitidine in Treating Patients With Myelodysplastic Syndromes or Acute Myeloid Leukemia Active, not recruiting NCT00392353 Phase 1, Phase 2 Azacitidine;Vorinostat
45 Azacitidine and Lintuzumab in Treating Patients With Previously Untreated Myelodysplastic Syndromes Terminated NCT00997243 Phase 2 5-azacytidine
46 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
47 Donor Umbilical Cord Blood Transplant in Treating Patients With Advanced Hematological Cancer or Other Disease Terminated NCT00719849 Phase 2 cyclophosphamide;cyclosporine;fludarabine phosphate;mycophenolate mofetil
48 Bexarotene and GM-CSF in Treating Patients With Myelodysplastic Syndrome or Acute Myeloid Leukemia Completed NCT00425477 Phase 2 bexarotene
49 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
50 Arsenic Trioxide and Cholecalciferol (Vitamin D) in Treating Patients With Myelodysplastic Syndromes Terminated NCT00104806 Phase 2 arsenic trioxide

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) 30

Anatomical Context for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

42
Bone, Bone Marrow, Myeloid, Kidney, T Cells, Breast, Eye

Publications for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

(show all 33)
# Title Authors Year
1
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. ( 30007103 )
2018
2
Abnormalities in the T Cell Receptor VI' Repertoire and Foxp3 Expression in Refractory Anemia with Ringed Sideroblasts. ( 26154600 )
2015
3
An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report. ( 25621045 )
2015
4
Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases. ( 24399021 )
2013
5
Plasma proteome changes associated with refractory anemia and refractory anemia with ringed sideroblasts in patients with myelodysplastic syndrome. ( 23566303 )
2013
6
Identification of protein-coding and non-coding RNA expression profiles in CD34+ and in stromal cells in refractory anemia with ringed sideroblasts. ( 20633296 )
2010
7
Refractory anemia with ringed sideroblasts: more than meets the eye. ( 20713854 )
2010
8
Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. ( 19692701 )
2009
9
JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. ( 18166783 )
2008
10
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
11
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
12
Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis. ( 17713548 )
2008
13
Neither serum ferritin nor the number of red blood cell transfusions affect overall survival in refractory anemia with ringed sideroblasts. ( 18442062 )
2008
14
Immature and mature monocyte-derived dendritic cells in myelodysplastic syndromes of subtypes refractory anemia or refractory anemia with ringed sideroblasts display an altered cytokine profile. ( 17188353 )
2007
15
Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblasts. ( 17654685 )
2007
16
Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts). ( 16870250 )
2007
17
High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis. ( 16990759 )
2006
18
MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count. ( 17194663 )
2006
19
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. ( 16741247 )
2006
20
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis harbors JAK2 mutation and shows overlapping myeloproliferative and myelodysplastic features. ( 16871284 )
2006
21
Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. ( 16670082 )
2006
22
Refractory anemia with ringed sideroblasts and chronic myelomonocytic leukemia: myelodysplastic/myeloproliferative disease. ( 16174602 )
2005
23
Coexistence of primary refractory anemia with ringed sideroblasts and T cell-lymphoblastic non-Hodgkin lymphoma. ( 15034241 )
2004
24
Myelodysplastic syndromes: prognostic significance of multilineage dysplasia in patients with refractory anemia or refractory anemia with ringed sideroblasts. ( 12014369 )
2002
25
Therapy-related refractory anemia with ringed sideroblasts in chronic lymphocytic leukemia. involvement of 3q21 region. ( 11520565 )
2001
26
Granulocyte colony-stimulating factor inhibits Fas-triggered apoptosis in bone marrow cells isolated from patients with refractory anemia with ringed sideroblasts. ( 11368434 )
2001
27
Refractory anemia with ringed sideroblasts with a low IPSS score progressed rapidly with de novo appearance of multiple karyotypic abnormalities and into acute erythroleukemia (AML-M6A). ( 10867135 )
2000
28
Successful allogeneic bone marrow transplantation for childhood-onset refractory anemia with ringed sideroblasts. ( 10719819 )
2000
29
Refractory anemia with ringed sideroblasts in children: two diseases with a similar phenotype? ( 10524457 )
1999
30
del 11(q23) as a prognostic factor of iron overload in refractory anemia with ringed sideroblasts. ( 9595817 )
1997
31
Clonality study by fluorescence in situ hybridization of a patient with refractory anemia with ringed sideroblasts and monosomy 7. ( 7758994 )
1995
32
Severe refractory anemia with ringed sideroblasts and bone marrow aplasia in a child. ( 1550266 )
1992
33
Refractory anemia with ringed sideroblasts (primary acquired sideroblastic anemia). ( 2854694 )
1988

Variations for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

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_017875.4(SLC25A38): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2270770 GRCh37 Chromosome 3, 39431081: 39431081
6 SLC25A38 NM_017875.4(SLC25A38): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2270770 GRCh38 Chromosome 3, 39389590: 39389590
7 SLC25A38 NM_017875.4(SLC25A38): c.-303A> C single nucleotide variant Likely benign rs114422738 GRCh38 Chromosome 3, 39383422: 39383422
8 SLC25A38 NM_017875.4(SLC25A38): c.-303A> C single nucleotide variant Likely benign rs114422738 GRCh37 Chromosome 3, 39424913: 39424913
9 SLC25A38 NM_017875.4(SLC25A38): c.239C> G (p.Thr80Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144149294 GRCh38 Chromosome 3, 39390470: 39390470
10 SLC25A38 NM_017875.4(SLC25A38): c.239C> G (p.Thr80Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144149294 GRCh37 Chromosome 3, 39431961: 39431961
11 SLC25A38 NM_017875.4(SLC25A38): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance rs143865753 GRCh38 Chromosome 3, 39391610: 39391610
12 SLC25A38 NM_017875.4(SLC25A38): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance rs143865753 GRCh37 Chromosome 3, 39433101: 39433101
13 SLC25A38 NM_017875.4(SLC25A38): c.570C> A (p.Pro190=) single nucleotide variant Uncertain significance rs886058471 GRCh38 Chromosome 3, 39391966: 39391966
14 SLC25A38 NM_017875.4(SLC25A38): c.570C> A (p.Pro190=) single nucleotide variant Uncertain significance rs886058471 GRCh37 Chromosome 3, 39433457: 39433457
15 SLC25A38 NM_017875.4(SLC25A38): c.652A> T (p.Ile218Phe) single nucleotide variant Uncertain significance rs764125735 GRCh38 Chromosome 3, 39394436: 39394436
16 SLC25A38 NM_017875.4(SLC25A38): c.652A> T (p.Ile218Phe) single nucleotide variant Uncertain significance rs764125735 GRCh37 Chromosome 3, 39435927: 39435927
17 SLC25A38 NM_017875.4(SLC25A38): c.*370C> T single nucleotide variant Uncertain significance rs886058472 GRCh38 Chromosome 3, 39396890: 39396890
18 SLC25A38 NM_017875.4(SLC25A38): c.*370C> T single nucleotide variant Uncertain significance rs886058472 GRCh37 Chromosome 3, 39438381: 39438381
19 SLC25A38 NM_017875.4(SLC25A38): c.-227G> A single nucleotide variant Uncertain significance rs886058468 GRCh38 Chromosome 3, 39383498: 39383498
20 SLC25A38 NM_017875.4(SLC25A38): c.-227G> A single nucleotide variant Uncertain significance rs886058468 GRCh37 Chromosome 3, 39424989: 39424989
21 SLC25A38 NM_017875.4(SLC25A38): c.-161G> A single nucleotide variant Uncertain significance rs528990278 GRCh38 Chromosome 3, 39383564: 39383564
22 SLC25A38 NM_017875.4(SLC25A38): c.-161G> A single nucleotide variant Uncertain significance rs528990278 GRCh37 Chromosome 3, 39425055: 39425055
23 SLC25A38 NM_017875.4(SLC25A38): c.12C> T (p.Asn4=) single nucleotide variant Conflicting interpretations of pathogenicity rs142420345 GRCh38 Chromosome 3, 39383736: 39383736
24 SLC25A38 NM_017875.4(SLC25A38): c.12C> T (p.Asn4=) single nucleotide variant Conflicting interpretations of pathogenicity rs142420345 GRCh37 Chromosome 3, 39425227: 39425227
25 SLC25A38 NM_017875.4(SLC25A38): c.382A> G (p.Met128Val) single nucleotide variant Benign/Likely benign rs146940902 GRCh38 Chromosome 3, 39391546: 39391546
26 SLC25A38 NM_017875.4(SLC25A38): c.382A> G (p.Met128Val) single nucleotide variant Benign/Likely benign rs146940902 GRCh37 Chromosome 3, 39433037: 39433037
27 SLC25A38 NM_017875.4(SLC25A38): c.*304C> T single nucleotide variant Uncertain significance rs113251543 GRCh38 Chromosome 3, 39396824: 39396824
28 SLC25A38 NM_017875.4(SLC25A38): c.*304C> T single nucleotide variant Uncertain significance rs113251543 GRCh37 Chromosome 3, 39438315: 39438315
29 SLC25A38 NM_017875.4(SLC25A38): c.*310A> T single nucleotide variant Benign rs12991 GRCh38 Chromosome 3, 39396830: 39396830
30 SLC25A38 NM_017875.4(SLC25A38): c.*310A> T single nucleotide variant Benign rs12991 GRCh37 Chromosome 3, 39438321: 39438321
31 SLC25A38 NM_017875.4(SLC25A38): c.*490G> A single nucleotide variant Uncertain significance rs150889211 GRCh38 Chromosome 3, 39397010: 39397010
32 SLC25A38 NM_017875.4(SLC25A38): c.*490G> A single nucleotide variant Uncertain significance rs150889211 GRCh37 Chromosome 3, 39438501: 39438501
33 SLC25A38 NM_017875.4(SLC25A38): c.*588T> A single nucleotide variant Likely benign rs6890 GRCh38 Chromosome 3, 39397108: 39397108
34 SLC25A38 NM_017875.4(SLC25A38): c.*588T> A single nucleotide variant Likely benign rs6890 GRCh37 Chromosome 3, 39438599: 39438599
35 SLC25A38 NM_017875.4(SLC25A38): c.-292G> A single nucleotide variant Uncertain significance rs142441701 GRCh38 Chromosome 3, 39383433: 39383433
36 SLC25A38 NM_017875.4(SLC25A38): c.-292G> A single nucleotide variant Uncertain significance rs142441701 GRCh37 Chromosome 3, 39424924: 39424924
37 SLC25A38 NM_017875.4(SLC25A38): c.-237G> A single nucleotide variant Uncertain significance rs527536267 GRCh38 Chromosome 3, 39383488: 39383488
38 SLC25A38 NM_017875.4(SLC25A38): c.-237G> A single nucleotide variant Uncertain significance rs527536267 GRCh37 Chromosome 3, 39424979: 39424979
39 SLC25A38 NM_017875.4(SLC25A38): c.-225G> A single nucleotide variant Uncertain significance rs370977005 GRCh38 Chromosome 3, 39383500: 39383500
40 SLC25A38 NM_017875.4(SLC25A38): c.-225G> A single nucleotide variant Uncertain significance rs370977005 GRCh37 Chromosome 3, 39424991: 39424991
41 SLC25A38 NM_017875.4(SLC25A38): c.-219T> C single nucleotide variant Uncertain significance rs886058469 GRCh38 Chromosome 3, 39383506: 39383506
42 SLC25A38 NM_017875.4(SLC25A38): c.-219T> C single nucleotide variant Uncertain significance rs886058469 GRCh37 Chromosome 3, 39424997: 39424997
43 SLC25A38 NM_017875.4(SLC25A38): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs144319567 GRCh38 Chromosome 3, 39389586: 39389586
44 SLC25A38 NM_017875.4(SLC25A38): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs144319567 GRCh37 Chromosome 3, 39431077: 39431077
45 SLC25A38 NM_017875.4(SLC25A38): c.*431G> A single nucleotide variant Uncertain significance rs73058292 GRCh38 Chromosome 3, 39396951: 39396951
46 SLC25A38 NM_017875.4(SLC25A38): c.*431G> A single nucleotide variant Uncertain significance rs73058292 GRCh37 Chromosome 3, 39438442: 39438442
47 SLC25A38 NM_017875.4(SLC25A38): c.-325G> C single nucleotide variant Uncertain significance rs886058467 GRCh38 Chromosome 3, 39383400: 39383400
48 SLC25A38 NM_017875.4(SLC25A38): c.-325G> C single nucleotide variant Uncertain significance rs886058467 GRCh37 Chromosome 3, 39424891: 39424891
49 SLC25A38 NM_017875.4(SLC25A38): c.-209A> G single nucleotide variant Likely benign rs143903497 GRCh38 Chromosome 3, 39383516: 39383516
50 SLC25A38 NM_017875.4(SLC25A38): c.-209A> G single nucleotide variant Likely benign rs143903497 GRCh37 Chromosome 3, 39425007: 39425007

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 MT-CO1 SF3B1 TET2

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 MT-CO1 TET2

Sources for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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