Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AISA MCID: ATS406 MIFTS: 43	Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 (AISA) Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Aplastic and other anaemias

Other anaemias

Other sideroblastic anaemias

Orphanet: ⁵⁸

Rare haematological diseases

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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.

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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:

$Diseases related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2$

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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%)

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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

Fludarabine

Approved

Phase 3

75607-67-9, 21679-14-1

30751 657237

Busulfan

Approved, Investigational

Phase 3

55-98-1

2478

Aldesleukin

Approved

Phase 3

110942-02-4

Etoposide

Approved

Phase 3

33419-42-0

36462

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 3

1177-87-3

3680

Lenograstim

Approved, Investigational

Phase 3

135968-09-1

Dexamethasone

Approved, Investigational, Vet_approved

Phase 3

50-02-2

3003 5743

Asparaginase Escherichia coli

Approved, Investigational

Phase 3

9015-68-3

Idarubicin

Approved

Phase 3

58957-92-9

42890

Cyclophosphamide

Approved, Investigational

Phase 3

50-18-0, 6055-19-2

2907

Tioguanine

Approved

Phase 3

154-42-7

2723601

Levoleucovorin

Approved, Experimental, Investigational

Phase 3

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methotrexate

Approved

Phase 3

1959-05-2, 59-05-2

4112 126941

Hydrocortisone succinate

Approved

Phase 3

2203-97-6

3643

Hydrocortisone acetate

Approved, Vet_approved

Phase 3

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 3

50-23-7

3640 5754

Cytarabine

Approved, Investigational

Phase 3

147-94-4

6253

Daunorubicin

Approved

Phase 3

20830-81-3

30323

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

Aspartic acid

Approved, Nutraceutical

Phase 3

56-84-8

5960

Immunologic Factors

Phase 3

Antirheumatic Agents

Phase 3

Anti-Bacterial Agents

Phase 3

Anti-Infective Agents

Phase 3

Antimetabolites

Phase 3

Antibiotics, Antitubercular

Phase 3

Immunosuppressive Agents

Phase 3

Dermatologic Agents

Phase 3

Folic Acid Antagonists

Phase 3

Antineoplastic Agents, Hormonal

Phase 3

Antiviral Agents

Phase 3

Folate

Phase 3

Alkylating Agents

Phase 3

Antineoplastic Agents, Alkylating

Phase 3

Anti-Retroviral Agents

Phase 3

Vitamin B9

Phase 3

Etoposide phosphate

Phase 3

16760419

Hormones

Phase 3

Interleukin-2

Phase 3

Vitamin B Complex

Phase 3

Hormone Antagonists

Phase 3

Anti-HIV Agents

Phase 3

Antiemetics

Phase 3

Anti-Inflammatory Agents

Phase 3

N-Methylaspartate

Phase 3

glucocorticoids

Phase 3

BB 1101

Phase 3

Analgesics, Non-Narcotic

Phase 3

Analgesics

Phase 3

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

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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

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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

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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	Gattermann N...Schneider W	9389715	1997
2	Characterization of an N-acylhomoserine lactonase from Serratia sp. and its biofouling mitigation in a membrane bioreactor. ⁶²	Ge S...Li Y	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	Hakbijl AJ...Sadiqi S	35798872	2022
4	Application of Modest Hypothermia in Patients with Acute Traumatic Cervical Spine Injury: A Pilot Study. ⁶²	Suresh PB...Jain K	36348686	2022
5	Factor structure of borderline personality disorder and response to Systems Training for Emotional Predictability and Problem Solving. ⁶²	Black DW...Allen J	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	Strickland NJ...Stewart SH	35901425	2022
7	Mitochondrial composition of and diffusion limiting factors of three social wasp genera Polistes, Ropalidia, and parapolybia (Hymenoptera: Vespidae). ⁶²	Luo L...Li TJ	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	Li QW...Wang H	35191265	2022
9	Increased Ipsilateral M1 Activation after Incomplete Spinal Cord Injury Facilitates Motor Performance. ⁶²	Prak RF...Zijdewind I	34491111	2021
10	Comparable satisfaction and clinical outcomes after surgery for adolescent idiopathic scoliosis in the adult (AISA) between the US and Japan. ⁶²	Yagi M...International Spine Study Group (ISSG)	34625329	2021
11	Selenium-Binding Protein 1 (SELENBP1) as Biomarker for Adverse Clinical Outcome After Traumatic Spinal Cord Injury. ⁶²	Seelig J...Biglari B	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	Bourdel-Marchasson I...Valentini L	32197408	2020
13	AISA can control the inflammatory facet of SASP. ⁶²	d'Alessio PA...Bene MC	31904411	2020
14	Suitability of resampled multispectral datasets for mapping flowering plants in the Kenyan savannah. ⁶²	Makori DM...Raina S	32960879	2020
15	Association between Serum IL-37 and Spinal Cord Injury: A Prospective Observational Study. ⁶²	Chen Y...Shi B	33381572	2020
16	The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGFβ signaling in zebrafish. ⁶²	De La Garza A...Bowman TV	31300417	2019
17	Academic Interest Scale for Adolescents: Development, Validation, and Measurement Invariance With Chinese Students. ⁶²	Luo Z...Xu W	31681097	2019
18	An Artificial Intelligent Signal Amplification System for in vivo Detection of miRNA. ⁶²	Ma X...Tian J	31824932	2019
19	Refined use of AISA band-differences for oil slick identification beyond brightness contrast reversal under sunglint. ⁶²	Jin S...Mao Z	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	Morita Y...Matsuda M	30007103	2018
21	Brazilian international cooperation in health in the era of SUS. ⁶²	Buss PM	29972496	2018
22	[Hand function reconstruction by tendon transfers in patients with cervical spinal cord injury]. ⁶²	Li J...Zhang Y	29806340	2018
23	SF3B1 deficiency impairs human erythropoiesis via activation of p53 pathway: implications for understanding of ineffective erythropoiesis in MDS. ⁶²	Huang Y...An X	29433555	2018
24	Surgical management of an adult manifestation of Ewing sarcoma of the spine-a case report. ⁶²	Shoubash L...Muller JU	30264030	2018
25	Transcriptome analysis of CD34+ cells from myelodysplastic syndrome patients. ⁶²	Ou R...Liu S	28982058	2017
26	Enhanced plasma protein carbonylation in patients with myelodysplastic syndromes. ⁶²	Hlavackova A...Dyr JE	28300669	2017
27	Splicing factor mutations in MDS RARS and MDS/MPN-RS-T. ⁶²	Yoshimi A...Abdel-Wahab O	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	Anissipour AK...Bransford RJ	28247075	2017
29	Score risk model for predicting severe fever with thrombocytopenia syndrome mortality. ⁶²	Wang L...Yu H	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	Ostan R...d'Alessio PA	26249791	2016
31	Detection of erythroblast antibodies in mitogen-stimulated bone marrow cultures from patients with myelodysplastic syndromes. ⁶²	Zaninoni A...Barcellini W	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	Wang B...Zhou X	26837429	2016
33	Abnormalities in the T cell receptor Vδ repertoire and Foxp3 expression in refractory anemia with ringed sideroblasts. ⁶²	Geng S...Du X	26154600	2015
34	Marked Hematopoiesis Masquerading Multiple Bone Metastasis in a Lung Cancer Patient With Myelodysplastic Syndrome. ⁶²	Imataki O...Uemura M	26018680	2015
35	Effects of transplantation of olfactory ensheathing cells in chronic spinal cord injury: a systematic review and meta-analysis. ⁶²	Li L...Tang K	25001890	2015
36	Comparisons of sarcopenia prevalence based on different diagnostic criteria in Chinese older adults. ⁶²	Wen X...Fu Q	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	Messman-Moore T...Barton SN	24919992	2015
38	An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report. ⁶²	Hao L...Sugumar D	25621045	2015
39	Automatic extraction of optimal endmembers from airborne hyperspectral imagery using iterative error analysis (IEA) and spectral discrimination measurements. ⁶²	Song A...Kim Y	25625907	2015
40	Remote estimation of cyanobacteria-dominance in inland waters. ⁶²	Shi K...Liu X	25462730	2015
41	Plasma Protein Biomarker Candidates for Myelodysplastic Syndrome Subgroups. ⁶²	Majek P...Dyr JE	26448929	2015
42	Cytogenetics and clinical features of pediatric myelodysplastic syndrome in Japan. ⁶²	Moriwaki K...Hayashi Y	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	Onida F...MDS subcommittee of the EBMT-CMWP	25085359	2014
44	Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia. ⁶²	Wang C...Iwama A	24735968	2014
45	[Copper deficiency anemia morphologically mimicking myelodysplastic syndrome]. ⁶²	Kikuchi T...Okamoto S	24681939	2014
46	Complete resolution of steroid-resistant organizing pneumonia associated with myelodysplastic syndrome following allogeneic hematopoietic cell transplantation. ⁶²	Asano T...Tanimoto M	25140286	2014
47	Transfusion-dependent low-risk myelodysplastic patients receiving deferasirox: Long-term follow-up. ⁶²	Improta S...Mastrullo L	24260074	2013
48	Monitoring and assessing of landscape heterogeneity at different scales. ⁶²	Lausch A...Schulz K	23719741	2013
49	The evaluation of iron overload through hepcidin level and its related factors in myelodysplastic syndromes. ⁶²	Gu S...Li X	23540794	2013
50	Plasma proteome changes associated with refractory anemia and refractory anemia with ringed sideroblasts in patients with myelodysplastic syndrome. ⁶²	Majek P...Dyr JE	23566303	2013

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Genes for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Genes related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	400	Pathogenic ⁵	9389715
2	SF3B1	Splicing Factor 3b Subunit 1	Protein Coding	350	Causative somatic mutation ⁵⁸	24507814
3	TET2	Tet Methylcytosine Dioxygenase 2	Protein Coding	350	Causative somatic mutation ⁵⁸	19557078 19483684

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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:

Sources

Expression for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

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Pathways for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Sources

GO Terms for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Sources

Sources for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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⁷⁵ Wikipedia

Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 (AISA)

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

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

Characteristics:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Related Diseases for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

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

Graphical network of the top 20 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:

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):

Interventional clinical trials:

Genetic Tests for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

Anatomical Context for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

Publications for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

Genes for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Genes related to Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 (3 elite genes):

Variations for Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

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

Expression 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