AISA
MCID: ATS406
MIFTS: 43

Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 (AISA)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases
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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 11
Refractory Anemia with Ringed Sideroblasts 19 58 28 5 16
Acquired Idiopathic Sideroblastic Anemia 19 58 5
Primary Acquired Sideroblastic Anemia 19 58
Aisa 19 58
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anaemia 2 11
Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anaemia 11
Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 11
Sideroblastic Anemia Pyridoxine-Refractory Autosomal Recessive 19
Pyridoxine Refractory Sideroblastic Anemia 19

Characteristics:


Prevelance:

Acquired Idiopathic Sideroblastic Anemia: <1/1000000 (Europe) 58

Age Of Onset:

Acquired Idiopathic Sideroblastic Anemia: Adult 58

Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

GARD: 19 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 genetic changes 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 myelofibrosis and refractory cytopenia with multilineage dysplasia. An important gene associated with Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I). The drugs Fludarabine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and bone, and related phenotypes are refractory anemia with ringed sideroblasts and pallor

Orphanet: 58 A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.

Disease Ontology: 11 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 64)
# Related Disease Score Top Affiliating Genes
1 myelofibrosis 30.1 TET2 SF3B1
2 refractory cytopenia with multilineage dysplasia 30.0 TET2 SF3B1
3 refractory anemia 29.8 TET2 SF3B1
4 thrombocytosis 29.7 TET2 SF3B1
5 chronic myelomonocytic leukemia 29.7 TET2 SF3B1
6 leukemia, chronic lymphocytic 29.6 TET2 SF3B1
7 myelodysplastic syndrome 29.6 TET2 SF3B1
8 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 11.5
9 anemia, sideroblastic, 3, pyridoxine-refractory 11.4
10 myeloproliferative neoplasm 10.6
11 myelodysplastic/myeloproliferative neoplasm 10.6
12 thrombocythemia 1 10.5
13 essential thrombocythemia 10.5
14 polycythemia vera 10.4
15 polycythemia 10.4
16 acute myeloid leukemia with recurrent genetic anomaly 10.4
17 refractory anemia with excess blasts 10.4
18 acute leukemia 10.4
19 deficiency anemia 10.3
20 hemochromatosis, type 1 10.3
21 campomelic dysplasia 10.3
22 fetal hemoglobin quantitative trait locus 1 10.3
23 protoporphyria, erythropoietic, 1 10.3
24 anemia, sideroblastic, 2, pyridoxine-refractory 10.3
25 persistent hyperplastic primary vitreous, autosomal recessive 10.3
26 lymphoma, hodgkin, classic 10.3
27 ataxia with vitamin e deficiency 10.3
28 anemia, sideroblastic, 1 10.3
29 kearns-sayre syndrome 10.3
30 lymphoma, non-hodgkin, familial 10.3
31 leukemia, acute lymphoblastic 10.3
32 beta-thalassemia 10.3
33 iron overload 10.3
34 lymphoma 10.3
35 acute erythroid leukemia 10.3
36 erythroleukemia 10.3
37 thalassemia 10.3
38 hemosiderosis 10.3
39 neutropenia 10.3
40 thrombophilia 10.3
41 hemoglobinopathy 10.3
42 mitochondrial myopathy 10.3
43 cytokine deficiency 10.3
44 refractory anemia with excess blasts in transformation 10.3
45 aplastic anemia 10.2
46 pancytopenia 10.2
47 down syndrome 10.1
48 myoclonic epilepsy associated with ragged-red fibers 10.1
49 acute myelomonocytic leukemia 10.1
50 hairy cell leukemia 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 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 refractory anemia with ringed sideroblasts 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004828
2 pallor 58 30 Frequent (33%) Frequent (79-30%)
HP:0000980
3 normocytic anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001897
4 normochromic anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001895
5 megaloblastic erythroid hyperplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0200143
6 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
7 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
8 abnormal fingernail morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001231
9 thrombocytopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001873
10 hypochromic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001931
11 hyposegmentation of neutrophil nuclei 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011447
12 chronic infection 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031035
13 dysplastic granulopoesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012136
14 abnormal number of granulocyte precursors 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012137
15 congestive heart failure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001635
16 neutropenia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001875
17 abnormal bleeding 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001892
18 bone marrow hypocellularity 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005528
19 pancytopenia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001876
20 leukocytosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001974
21 increased megakaryocyte count 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005513
22 thrombocytosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001894
23 acute myeloid leukemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004808
24 granulocytopenia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001913
25 myelodysplasia 58 Occasional (29-5%)
26 anemia of inadequate production 58 Very frequent (99-80%)
27 abnormal megakaryocyte morphology 58 Occasional (29-5%)
28 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 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 3 75607-67-9, 21679-14-1 30751 657237
2
Busulfan Approved, Investigational Phase 3 55-98-1 2478
3
Aldesleukin Approved Phase 3 110942-02-4
4
Etoposide Approved Phase 3 33419-42-0 36462
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3 3680
6
Lenograstim Approved, Investigational Phase 3 135968-09-1
7
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 3003 5743
8
Asparaginase Escherichia coli Approved, Investigational Phase 3 9015-68-3
9
Idarubicin Approved Phase 3 58957-92-9 42890
10
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
11
Tioguanine Approved Phase 3 154-42-7 2723601
12
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
13
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
14
Hydrocortisone succinate Approved Phase 3 2203-97-6 3643
15
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
16
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 3640 5754
17
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
18
Daunorubicin Approved Phase 3 20830-81-3 30323
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
20
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
21 Immunologic Factors Phase 3
22 Antirheumatic Agents Phase 3
23 Anti-Bacterial Agents Phase 3
24 Anti-Infective Agents Phase 3
25 Antimetabolites Phase 3
26 Antibiotics, Antitubercular Phase 3
27 Immunosuppressive Agents Phase 3
28 Dermatologic Agents Phase 3
29 Folic Acid Antagonists Phase 3
30 Antineoplastic Agents, Hormonal Phase 3
31 Antiviral Agents Phase 3
32 Folate Phase 3
33 Alkylating Agents Phase 3
34 Antineoplastic Agents, Alkylating Phase 3
35 Anti-Retroviral Agents Phase 3
36 Vitamin B9 Phase 3
37
Etoposide phosphate Phase 3 16760419
38 Hormones Phase 3
39 Interleukin-2 Phase 3
40 Vitamin B Complex Phase 3
41 Hormone Antagonists Phase 3
42 Anti-HIV Agents Phase 3
43 Antiemetics Phase 3
44 Anti-Inflammatory Agents Phase 3
45 N-Methylaspartate Phase 3
46 glucocorticoids Phase 3
47 BB 1101 Phase 3
48 Analgesics, Non-Narcotic Phase 3
49 Analgesics Phase 3
50 Gastrointestinal Agents Phase 3

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A PHASE III STUDY IN CHILDREN WITH UNTREATED ACUTE MYELOGENOUS LEUKEMIA (AML) OR MYELODYSPLASTIC SYNDROME (MDS) Completed NCT00002798 Phase 3 asparaginase;daunorubicin hydrochloride;fludarabine phosphate;therapeutic hydrocortisone;cytarabine;idarubicin;dexamethasone;thioguanine;etoposide;methotrexate;cyclophosphamide;busulfan
2 A Phase II Study of and Oral Histone Deacytylase Inhibitor, MS-275 (NSC 706995), in Combination With Sargramostim (GM-CSF, Berlex, Inc.) Treating Relapsed and Refractory Myeloid Malignancies Completed NCT00462605 Phase 2 entinostat;sargramostim
3 Prolonged Mycophenolate Mofetil and Truncated Cyclosporine Postgrafting Immunosuppression to Reduce Life-Threatening GVHD After Unrelated Donor Peripheral Blood Cell Transplantation Using Nonmyeloablative Conditioning for Patients With Hematologic Malignancies and Renal Cell Carcinoma - A Multi-Center Trial Completed NCT00078858 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
4 Low-Dose TBI and Fludarabine Followed by Nonmyeloablative Unrelated Donor Peripheral Blood Stem Cell Transplantation Using Enhanced Postgrafting Immunosuppression for Patients With Hematologic Malignancies and Renal Cell Carcinoma - A Multi-center Trial Completed NCT00027820 Phase 1, Phase 2 Fludarabine Phosphate;Cyclosporine;Mycophenolate Mofetil
5 Phase II Study of Thalidomide in the Treatment of Myelodysplastic Syndromes in Adults: A Clinical and Biologic Study Completed NCT00015990 Phase 2 thalidomide
6 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
7 A Two Step Approach to Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Patients With Hematologic Malignancies Completed NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
8 A Proof of Concept Study of Non-DNA Damaging DNMT1 Depletion Therapy for Myelodysplastic Syndrome Completed NCT01165996 Phase 1, Phase 2 decitabine
9 A Pilot Trial of Vorinostat Plus Tacrolimus and Methotrexate to Prevent Graft Versus Host Disease Following Unrelated Donor Hematopoietic Stem Cell Transplantation Completed NCT01789255 Phase 2 vorinostat;tacrolimus;cyclosporine;methotrexate
10 A Phase II Trial Combining Radiolabeled BC8 (Anti-CD45) Antibody With Fludarabine and Low Dose TBI Followed by Related or Unrelated PBSC Infusion and Post-Transplant Immunosuppression for Patients With Advanced AML or High Risk Myelodysplastic Syndrome Terminated NCT00119366 Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
11 Safety and Efficacy of Functional Neural Regeneration Collagen Scaffold Transplantation in Complete (AISA) Acute Spinal Cord Injury Patients Unknown status NCT02510365 Phase 1
12 Phase I Study of CC-5013 (Lenalidomide NSC# 703813) in Pediatric Patients With Relapsed/Refractory Solid Tumors or Myelodysplastic Syndrome Completed NCT00104962 Phase 1 lenalidomide
13 Phase I Study of the Farnesyl Transferase Inhibitor R115777 (NSC #702818) in Patients With Myelodysplastic Syndrome Completed NCT00005845 Phase 1 tipifarnib
14 Dose Finding Study of Bryostatin-1 and GM-CSF in Refractory Myeloid Malignancies Completed NCT00012376 Phase 1 bryostatin 1
15 A Phase I Study Combining Escalating Doses of Radiolabeled BC8 (Anti-CD45) Antibody With Fludarabine, Low Dose TBI, PBSC Infusion and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil to Establish Mixed or Full Donor Chimerism for Elderly Patients With Advanced Acute Myeloid Leukemia or High Risk Myelodysplastic Syndrome Completed NCT00008177 Phase 1 fludarabine phosphate;cyclosporine;mycophenolate mofetil
16 Identification of de Novo Fanconi Anemia Patients Using FANCD2 Western Blots Completed NCT01146210

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) 28

Anatomical Context for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

MalaCards : Bone Marrow, Myeloid, Bone, Neutrophil, Spinal Cord, Heart, Endothelial

Publications for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

(show top 50) (show all 291)
# 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. 62 5
9389715 1997
2
Characterization of an N-acylhomoserine lactonase from Serratia sp. and its biofouling mitigation in a membrane bioreactor. 62
36067706 2022
3
Applicability of the AO Spine Patient Reported Outcome Spine Trauma (PROST) in people with motor-complete spinal cord injury: a cognitive interview study. 62
35798872 2022
4
Application of Modest Hypothermia in Patients with Acute Traumatic Cervical Spine Injury: A Pilot Study. 62
36348686 2022
5
Factor structure of borderline personality disorder and response to Systems Training for Emotional Predictability and Problem Solving. 62
35081671 2022
6
Fostering resilience and countering stigma: A qualitative exploration of risk and protective factors for negative psychological consequences among alcohol-involved sexual assault survivors. 62
35901425 2022
7
Mitochondrial composition of and diffusion limiting factors of three social wasp genera Polistes, Ropalidia, and parapolybia (Hymenoptera: Vespidae). 62
35550012 2022
8
[A case-control study:the clinical efficacy of total laminectomy with lateral mass screw fixation and single open-door laminoplasty for cervical spinal cord injury without fracture and dislocation]. 62
35191265 2022
9
Increased Ipsilateral M1 Activation after Incomplete Spinal Cord Injury Facilitates Motor Performance. 62
34491111 2021
10
Comparable satisfaction and clinical outcomes after surgery for adolescent idiopathic scoliosis in the adult (AISA) between the US and Japan. 62
34625329 2021
11
Selenium-Binding Protein 1 (SELENBP1) as Biomarker for Adverse Clinical Outcome After Traumatic Spinal Cord Injury. 62
34140879 2021
12
Quality of Life: Psychological Symptoms-Effects of a 2-Month Healthy Diet and Nutraceutical Intervention; A Randomized, Open-Label Intervention Trial (RISTOMED). 62
32197408 2020
13
AISA can control the inflammatory facet of SASP. 62
31904411 2020
14
Suitability of resampled multispectral datasets for mapping flowering plants in the Kenyan savannah. 62
32960879 2020
15
Association between Serum IL-37 and Spinal Cord Injury: A Prospective Observational Study. 62
33381572 2020
16
The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGFβ signaling in zebrafish. 62
31300417 2019
17
Academic Interest Scale for Adolescents: Development, Validation, and Measurement Invariance With Chinese Students. 62
31681097 2019
18
An Artificial Intelligent Signal Amplification System for in vivo Detection of miRNA. 62
31824932 2019
19
Refined use of AISA band-differences for oil slick identification beyond brightness contrast reversal under sunglint. 62
30650807 2018
20
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. 62
30007103 2018
21
Brazilian international cooperation in health in the era of SUS. 62
29972496 2018
22
[Hand function reconstruction by tendon transfers in patients with cervical spinal cord injury]. 62
29806340 2018
23
SF3B1 deficiency impairs human erythropoiesis via activation of p53 pathway: implications for understanding of ineffective erythropoiesis in MDS. 62
29433555 2018
24
Surgical management of an adult manifestation of Ewing sarcoma of the spine-a case report. 62
30264030 2018
25
Transcriptome analysis of CD34+ cells from myelodysplastic syndrome patients. 62
28982058 2017
26
Enhanced plasma protein carbonylation in patients with myelodysplastic syndromes. 62
28300669 2017
27
Splicing factor mutations in MDS RARS and MDS/MPN-RS-T. 62
28466384 2017
28
Cervical facet dislocations in the adolescent population: a report of 21 cases at a Level 1 trauma center from 2004 to 2014. 62
28247075 2017
29
Score risk model for predicting severe fever with thrombocytopenia syndrome mortality. 62
28061758 2017
30
Impact of diet and nutraceutical supplementation on inflammation in elderly people. Results from the RISTOMED study, an open-label randomized control trial. 62
26249791 2016
31
Detection of erythroblast antibodies in mitogen-stimulated bone marrow cultures from patients with myelodysplastic syndromes. 62
27232106 2016
32
MicroRNA profiling of the whitefly Bemisia tabaci Middle East-Aisa Minor I following the acquisition of Tomato yellow leaf curl China virus. 62
26837429 2016
33
Abnormalities in the T cell receptor Vδ repertoire and Foxp3 expression in refractory anemia with ringed sideroblasts. 62
26154600 2015
34
Marked Hematopoiesis Masquerading Multiple Bone Metastasis in a Lung Cancer Patient With Myelodysplastic Syndrome. 62
26018680 2015
35
Effects of transplantation of olfactory ensheathing cells in chronic spinal cord injury: a systematic review and meta-analysis. 62
25001890 2015
36
Comparisons of sarcopenia prevalence based on different diagnostic criteria in Chinese older adults. 62
25732220 2015
37
Emotion dysregulation and drinking to cope as predictors and consequences of alcohol-involved sexual assault: examination of short-term and long-term risk. 62
24919992 2015
38
An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report. 62
25621045 2015
39
Automatic extraction of optimal endmembers from airborne hyperspectral imagery using iterative error analysis (IEA) and spectral discrimination measurements. 62
25625907 2015
40
Remote estimation of cyanobacteria-dominance in inland waters. 62
25462730 2015
41
Plasma Protein Biomarker Candidates for Myelodysplastic Syndrome Subgroups. 62
26448929 2015
42
Cytogenetics and clinical features of pediatric myelodysplastic syndrome in Japan. 62
25261124 2014
43
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. 62
25085359 2014
44
Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia. 62
24735968 2014
45
[Copper deficiency anemia morphologically mimicking myelodysplastic syndrome]. 62
24681939 2014
46
Complete resolution of steroid-resistant organizing pneumonia associated with myelodysplastic syndrome following allogeneic hematopoietic cell transplantation. 62
25140286 2014
47
Transfusion-dependent low-risk myelodysplastic patients receiving deferasirox: Long-term follow-up. 62
24260074 2013
48
Monitoring and assessing of landscape heterogeneity at different scales. 62
23719741 2013
49
The evaluation of iron overload through hepcidin level and its related factors in myelodysplastic syndromes. 62
23540794 2013
50
Plasma proteome changes associated with refractory anemia and refractory anemia with ringed sideroblasts in patients with myelodysplastic syndrome. 62
23566303 2013

Variations for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

5 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-CO1 m.6742T>C SNV Pathogenic
9664 rs199476126 GRCh37: MT:6742-6742
GRCh38: MT:6742-6742
2 MT-CO1 m.6721T>C SNV Pathogenic
9665 rs199476127 GRCh37: MT:6721-6721
GRCh38: MT:6721-6721
3 SLC25A38 NM_017875.4(SLC25A38):c.*404G>A SNV Uncertain Significance
345155 rs886058473 GRCh37: 3:39438415-39438415
GRCh38: 3:39396924-39396924
4 SLC25A38 NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) SNV Uncertain Significance
345150 rs886058471 GRCh37: 3:39433457-39433457
GRCh38: 3:39391966-39391966
5 SLC25A38 NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) SNV Uncertain Significance
345151 rs764125735 GRCh37: 3:39435927-39435927
GRCh38: 3:39394436-39394436
6 SLC25A38 NM_017875.4(SLC25A38):c.*431G>A SNV Uncertain Significance
345156 rs73058292 GRCh37: 3:39438442-39438442
GRCh38: 3:39396951-39396951
7 SLC25A38 NM_017875.4(SLC25A38):c.*370C>T SNV Uncertain Significance
345154 rs886058472 GRCh37: 3:39438381-39438381
GRCh38: 3:39396890-39396890
8 SLC25A38 NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) SNV Uncertain Significance
345146 rs765578993 GRCh37: 3:39432943-39432943
GRCh38: 3:39391452-39391452
9 SLC25A38 NM_017875.4(SLC25A38):c.-161G>A SNV Uncertain Significance
345141 rs528990278 GRCh37: 3:39425055-39425055
GRCh38: 3:39383564-39383564
10 SLC25A38 NM_017875.4(SLC25A38):c.*588T>A SNV Likely Benign
345159 rs6890 GRCh37: 3:39438599-39438599
GRCh38: 3:39397108-39397108
11 SLC25A38 NM_017875.4(SLC25A38):c.*809C>T SNV Likely Benign
369419 rs71325527 GRCh37: 3:39438820-39438820
GRCh38: 3:39397329-39397329
12 SLC25A38 NM_017875.4(SLC25A38):c.-209A>G SNV Likely Benign
345140 rs143903497 GRCh37: 3:39425007-39425007
GRCh38: 3:39383516-39383516
13 SLC25A38 NM_017875.4(SLC25A38):c.*642del DEL Benign
345160 rs34288981 GRCh37: 3:39438645-39438645
GRCh38: 3:39397154-39397154
14 SLC25A38 NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) SNV Benign
281680 rs2270770 GRCh37: 3:39431081-39431081
GRCh38: 3:39389590-39389590
15 SLC25A38 NM_017875.4(SLC25A38):c.*310A>T SNV Benign
345153 rs12991 GRCh37: 3:39438321-39438321
GRCh38: 3:39396830-39396830
16 SLC25A38 GRCh37/hg19 3p22.1(chr3:39423783-39438788)x3 CN GAIN Not Provided
441053 GRCh37: 3:39423783-39438788
GRCh38:

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

GO Terms for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Sources for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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