AISA
MCID: ACQ031
MIFTS: 35

Acquired Idiopathic Sideroblastic Anemia (AISA)

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Acquired Idiopathic Sideroblastic Anemia

MalaCards integrated aliases for Acquired Idiopathic Sideroblastic Anemia:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

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

Summaries for Acquired Idiopathic Sideroblastic Anemia

MalaCards based summary : Acquired Idiopathic Sideroblastic Anemia, also known as refractory anemia with ringed sideroblasts, is related to leukemia, acute myeloid and autosomal recessive pyridoxine-refractory sideroblastic anemia 2. An important gene associated with Acquired Idiopathic Sideroblastic Anemia is MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I), and among its related pathways/superpathways are Gene Expression and TP53 Regulates Metabolic Genes. Affiliated tissues include bone, bone marrow and myeloid.

Related Diseases for Acquired Idiopathic Sideroblastic Anemia

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



Diseases related to Acquired Idiopathic Sideroblastic Anemia

Symptoms & Phenotypes for Acquired Idiopathic Sideroblastic Anemia

Drugs & Therapeutics for Acquired Idiopathic Sideroblastic Anemia

Search Clinical Trials , NIH Clinical Center for Acquired Idiopathic Sideroblastic Anemia

Genetic Tests for Acquired Idiopathic Sideroblastic Anemia

Anatomical Context for Acquired Idiopathic Sideroblastic Anemia

MalaCards organs/tissues related to Acquired Idiopathic Sideroblastic Anemia:

41
Bone, Bone Marrow, Myeloid, T Cells, Eye, B Cells

Publications for Acquired Idiopathic Sideroblastic Anemia

Articles related to Acquired Idiopathic Sideroblastic Anemia:

(show all 45)
# 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
The MERRF mutation of mitochondrial DNA in the bone marrow of a patient with acquired idiopathic sideroblastic anemia. ( 9883816 )
1999
31
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. ( 9389715 )
1997
32
del 11(q23) as a prognostic factor of iron overload in refractory anemia with ringed sideroblasts. ( 9595817 )
1997
33
Clonality study by fluorescence in situ hybridization of a patient with refractory anemia with ringed sideroblasts and monosomy 7. ( 7758994 )
1995
34
Is acquired idiopathic sideroblastic anemia (AISA) a disorder of mitochondrial DNA? ( 8255108 )
1993
35
Severe refractory anemia with ringed sideroblasts and bone marrow aplasia in a child. ( 1550266 )
1992
36
No large deletions of mitochondrial DNA in acquired idiopathic sideroblastic anemia (AISA) ( 1288294 )
1992
37
Risk of leukemic transformation in two types of acquired idiopathic sideroblastic anemia. ( 2323645 )
1990
38
Refractory anemia with ringed sideroblasts (primary acquired sideroblastic anemia). ( 2854694 )
1988
39
Danazol therapy in acquired idiopathic sideroblastic anemia. ( 3113157 )
1987
40
Chromosome abnormalities in acquired idiopathic sideroblastic anemia with subsequent leukemic transformation. ( 3455846 )
1986
41
Acquired idiopathic sideroblastic anemia and terminal deletion of chromosome 11. ( 3978595 )
1985
42
Combined phenotypic and genotypic analysis of ringed sideroblasts in acquired idiopathic sideroblastic anemia. ( 3933247 )
1985
43
Acute leukemia following acquired idiopathic sideroblastic anemia. A case report with description of clinical, morphological and cytochemical features. ( 6428995 )
1984
44
Acquired idiopathic sideroblastic anemia: a new chromosomal abnormality. ( 6871838 )
1983
45
Leukemia in patients with acquired idiopathic sideroblastic anemia: an evaluation of prognostic indicators. ( 294823 )
1979

Variations for Acquired Idiopathic Sideroblastic Anemia

ClinVar genetic disease variations for Acquired Idiopathic Sideroblastic Anemia:

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

Expression for Acquired Idiopathic Sideroblastic Anemia

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

Pathways for Acquired Idiopathic Sideroblastic Anemia

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

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

GO Terms for Acquired Idiopathic Sideroblastic Anemia

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

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

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

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

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

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.62 COX5A MT-CO1

Sources for Acquired Idiopathic Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....