MCID: SDR003
MIFTS: 48

Sideroblastic Anemia malady

Summaries for Sideroblastic Anemia

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Sideroblastic anemia is a heterogeneous group of blood disorders 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 these anemias. sideroblastic anemias are classified as hereditary, acquired, and reversible. last updated: 12/9/2009

MalaCards: Sideroblastic Anemia, also known as anemia sideroblastic, is related to x-linked sideroblastic anemia and myopathy. An important gene associated with Sideroblastic Anemia is ALAS2 (aminolevulinate, delta-, synthase 2), and among its related pathways are Heme Biosynthesis and Metabolism. The compounds ferric ammonium citrate and formyl-coa have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid.

Disease Ontology:8 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

Wikipedia:63 Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces... more...

Aliases & Classifications for Sideroblastic Anemia

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 44Novoseek, 56SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH
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Aliases & Descriptions:

sideroblastic anemia 8 42 10 60
anemia sideroblastic 8 42 44
anemia, hypochromic with iron loading 8
sideroblastic anemia nos 8
sideroblastic anaemia 8


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Disease Ontology8 DOID:8955
NCIt39 C36078
ICD9CM27 285.0
MeSH34 D000756

Related Diseases for Sideroblastic Anemia

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17GeneCards, 18GeneDecks
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Diseases in the Sideroblastic Anemia family:

Sideroblastic Anemia Acquired

Diseases related to Sideroblastic Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked sideroblastic anemia31.5ALAS2, ALAS1, ABCB7
2myopathy30.9COX5A, PUS1, FXN
3pyridoxine-responsive sideroblastic anemia30.9TFE3
4pyridoxine-refractory autosomal recessive sideroblastic anemia30.9SLC25A38, GLRX5
5deficiency anemia30.8ALAS2, COX5A, FECH, ABCB7
6lactic acidosis30.7PUS1, COX5A
7hemochromatosis30.6ACO1, FXN
8pearson syndrome30.5PUS1, TRMU, GLRX5, ABCB7, SLC25A38, ALAS2
9mitochondrial disorders30.3PUS1, SUCLA2
10erythropoietic protoporphyria30.1ALAS2, FECH
11cerebellar ataxia30.1FXN
12hepatitis30.1ABCB7
13majeed syndrome30.1ACO1, FXN, HSCB
14x-linked sideroblastic anemia with ataxia10.6
15leukemia10.6
16sideroblastic anemia and mitochondrial myopathy10.4
17myopathy, lactic acidosis, and sideroblastic anemia 210.4
18mitochondrial myopathy and sideroblastic anemia 110.4
19acute leukemia10.4
20sideroblastic anemia pyridoxine-responsive autosomal recessive10.4
21sideroblastic anemia with spinocerebellar ataxia10.3
22multiple myeloma10.3
23myeloma10.3
24sideroblastic anemia acquired10.3
25myopathy, lactic acidosis, and sideroblastic anemia 110.3
26acquired idiopathic sideroblastic anemia10.3
27thrombocytosis10.2
28hairy cell leukemia10.2
29myelofibrosis10.2
30myeloid leukemia10.2
31pancreatitis10.2
32thalassemia10.2
33anemia, sideroblastic, with ataxia10.2
34congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome10.2
35malignant histiocytosis10.1
36histiocytosis10.1
37lymphoid leukemia10.1
38acute myeloid leukemia10.1
39systemic lupus erythematosus10.1
40acute t cell leukemia10.1
41sickle cell anemia10.1
42splenic abscess10.1
43kearns-sayre syndrome10.1
44hypochromic anemia10.1
45iron deficiency anemia10.1
46autoimmune hemolytic anemia10.1
47infectious mononucleosis10.1
48chronic myeloid leukemia10.1
49metabolic acidosis10.1
50hepatitis a10.1

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



Diseases related to sideroblastic anemia

Clinical Features for Sideroblastic Anemia

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Drugs & Therapeutics for Sideroblastic Anemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Sideroblastic Anemia

Drug clinical trials:

Search ClinicalTrials for Sideroblastic Anemia

Search NIH Clinical Center for Sideroblastic Anemia

Search CenterWatch for Sideroblastic Anemia

Genetic Tests for Sideroblastic Anemia

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Anatomical Context for Sideroblastic Anemia

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32MalaCards
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MalaCards organs/tissues related to Sideroblastic Anemia:

32
Bone, Bone marrow, Myeloid, Liver, T cells, Eye, Spleen, B cells

Animal Models for Sideroblastic Anemia or affiliated genes

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Publications for Sideroblastic Anemia

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50PubMed
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Articles related to Sideroblastic Anemia:

(show top 50)    (show all 329)
idTitleAuthorsYear
1
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. (24430573)
2014
2
Pyrazinamide-induced sideroblastic anemia. (21818765)
2012
3
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the I^-subunit of succinyl-CoA synthetase (SUCLA2). (22740690)
2012
4
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. (21800356)
2011
5
Severe isoniazid related sideroblastic anemia. (22184524)
2011
6
Refractory anemia with ring sideroblasts associated with marked thrombocytosis: a mixed group exhibiting a spectrum of morphologic findings. (21350094)
2011
7
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. (21252495)
2011
8
Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. (20194893)
2010
9
Same pathway, different gene: a second gene in the heme biosynthesis pathway causes inherited sideroblastic anemia. (19912262)
2010
10
Refractory anemia with ring sideroblasts in a young individual. (21120155)
2010
11
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. (19412178)
2009
12
The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). (16926301)
2006
13
Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload. (16446107)
2006
14
SOD2-deficiency sideroblastic anemia and red blood cell oxidative stress. (16910769)
2006
15
Progress of study on sideroblastic anemia and its possible gene therapy--review]. (15972158)
2005
16
Multiple spleen and liver abscesses due to Yersinia enterocolitica septicemia in a child with congenital sideroblastic anemia. (16282898)
2005
17
Hereditary sideroblastic anemia: a rare diagnosis]. (15217771)
2004
18
A brief commentary on "Refractory anemia with ring sideroblasts associated with i(17q) and mutation of the TP53 gene". (12606140)
2003
19
Congenital dyserythropoietic anemia with sideroblasts and ringed forms. (17146279)
2002
20
Dyserythropoietic changes and sideroblastic anemia in patients with hairy cell leukemia before and after therapy with 2-chlorodeoxyadenosine. (9890671)
1998
21
Sideroblastic anemias: variations on imprecision in diagnostic criteria, proposal for an extended classification of sideroblastic anemias. (9423809)
1998
22
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. (9389715)
1997
23
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. (7560104)
1995
24
Clonality study by fluorescence in situ hybridization of a patient with refractory anemia with ringed sideroblasts and monosomy 7. (7758994)
1995
25
Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. (7874110)
1994
26
X-Linked Sideroblastic Anemia and Ataxia (20301496)
1993
27
Re-analysis of prognosis in refractory anemia alone, with ring sideroblasts, and with excess of blasts. (8477059)
1993
28
Recombinant erythropoietin for refractory anemia with ring sideroblasts. (1398306)
1992
29
Primary acquired sideroblastic anemia and myelodysplastic syndrome from a geriatric point of view. (1877285)
1991
30
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. (1671320)
1991
31
Concise review: genetic bases for sideroblastic anemia. (2024639)
1991
32
Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible? (2925065)
1989
33
Congenital sideroblastic anemia in a female. (3220548)
1988
34
Factors influencing nonleukemic death in refractory anemia, refractory anemia with ring sideroblasts, and refractory anemia with excess of blasts. (3581090)
1987
35
A 75 year old man with sideroblastic anemia. (3463285)
1986
36
Zinc-induced copper deficiency: megamineral sideroblastic anemia. (4026086)
1985
37
Acute leukemia following acquired idiopathic sideroblastic anemia. A case report with description of clinical, morphological and cytochemical features. (6428995)
1984
38
Sideroblastic anemia with markedly increased free erythrocyte protoporphyrin without dermal photosensitivity. (7059671)
1982
39
Sideroblastic anemia associated with penicillamine therapy. (7305583)
1981
40
Multiple enzymatic defects in mitochondria in hematological cells of patients with primary sideroblastic anemia. (6249845)
1980
41
Acute lymphoblastic leukemia in idiopathic refractory sideroblastic anemia: evidence for a common lymphoid and myeloid progenitor cell. (6933843)
1980
42
Prognostic value of platelet counts in idiopathic sideroblastic anemia. (630123)
1978
43
Acquired hemoglobin H in refractor sideroblastic anemia. A preleukemic marker. (273389)
1978
44
Erythrocyte pyridoxine kinase levels in patients with sideroblastic anemia. (183116)
1976
45
Bone marrow delta-aminolevulinic acid synthetase activity in experimental sideroblastic anemia. (4833846)
1974
46
Sideroblastic anemia in multiple myeloma: a preleukemic change. (4118108)
1973
47
Primary acquired sideroblastic anemia preceding monoclonal gammopathy and malignant lymphoma. (4126442)
1973
48
Heme synthesis in four patients with primary acquired sideroblastic anemia. (4673856)
1972
49
Sideroblastic anemia following congenital erythroid hypoplasia. (5094263)
1971
50
REFRACTORY SIDEROBLASTIC ANEMIA. CLINICAL AND HEMATOLOGIC STUDY OF TEN CASES. (14233824)
1964

Genetic Variations for Sideroblastic Anemia

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Expression for genes affiliated with Sideroblastic Anemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sideroblastic Anemia

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Pathways for genes affiliated with Sideroblastic Anemia

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37NCBI BioSystems Database, 53Reactome, 29KEGG
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Pathways related to Sideroblastic Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.0ALAS2, ALAS1, FECH
2
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9.6ALAS2, ALAS1, SUCLA2, ACO1, FXN, ABCB7

Compounds for genes affiliated with Sideroblastic Anemia

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB
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Compounds related to Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate4410.3FTMT, FXN, ACO1
2formyl-coa44 2411.3ALAS2, ALAS1, FECH
3protoporphyrin ix44 11 2412.3FECH, ABCB7, FXN, ALAS2
4vitamin b64410.3FECH, ALAS1, ALAS2
5porphyrin4410.3ALAS1, FECH
6sulfur4410.3FTMT, FXN, ACO1
7pseudouridine44 2411.3PUS3, PUS1
8succinate4410.2COX5A, MT-CO1, FXN
9cholic acid44 28 11 2413.2MT-CO1, FECH, COX5A
10Coenzyme A11 2411.2SUCLA2, ALAS1, ALAS2
11porphobilinogen44 11 2412.2FECH, ALAS1
12deferoxamine44 1111.2ACO1, FXN, FTMT, FECH
135-aminolevulinic acid44 2411.2FECH, ACO1, ALAS1, ALAS2
14haem4410.2COX5A, FECH, ALAS1, ALAS2
15uridine44 11 2412.2PUS1, PUS3, COX5A
16nevirapine44 49 1112.2ABCB7, COX5A
17N-Formylmethionine1110.1MT-CO1, COX5A
18copper44 2411.1FTMT, MT-CO1, FECH, COX5A
19iron-sulfur4410.0FECH, FTMT, ABCB7, FXN, ACO1, ALAS2
20citrate449.9ACO1, MT-CO1, COX5A
21heme28 11 2411.7COX5A, FECH, MT-CO1, ABCB7, FXN, SUCLA2
22atp44 2810.6COX5A, APRT, MT-CO1, FTMT, ABCB7, FXN
23zinc44 2410.5FECH, ABCB7, FXN, ACO1, ALAS2
24oxygen44 2410.5COX5A, FECH, MT-CO1, FTMT, ABCB7, FXN
25iron44 2410.1ALAS2, COX5A, HSCB, SFXN4, FECH, MT-CO1

GO Terms for genes affiliated with Sideroblastic Anemia

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16Gene Ontology
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Cellular components related to Sideroblastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.8ALAS2, SLC25A38, ABCB7, FECH, COX5A
2mitochondrial matrixGO:0057599.3FECH, YARS2, FXN, SUCLA2, ALAS1, ALAS2
3mitochondrionGO:0057398.7ALAS2, HSCB, PUS1, YARS2, TRMU, FTMT

Biological processes related to Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of lyase activityGO:05134910.3FXN, FTMT
2tRNA pseudouridine synthesisGO:03111910.3PUS1, PUS3
3porphyrin-containing compound metabolic processGO:00677810.2FECH, ALAS1, ALAS2
4positive regulation of transferase activityGO:05134710.2FTMT, FXN
5erythrocyte differentiationGO:03021810.2ALAS2, SLC25A38, FECH
6iron ion homeostasisGO:05507210.1FECH, SFXN4
7positive regulation of oxidoreductase activityGO:05135310.1FXN, FTMT
8heme biosynthetic processGO:00678310.0ALAS2, ALAS1, SLC25A38, FXN, FECH
9cellular iron ion homeostasisGO:00687910.0FTMT, ABCB7, FXN, ACO1, ALAS2
10protoporphyrinogen IX biosynthetic processGO:0067829.9ALAS2, ALAS1
11small molecule metabolic processGO:0442819.4COX5A, FECH, APRT, ABCB7, FXN, SUCLA2

Molecular functions related to Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:00387010.3ALAS2, ALAS1
22 iron, 2 sulfur cluster bindingGO:05153710.2FXN, GLRX5, FECH
3iron-responsive element bindingGO:03035010.2ACO1, FECH
4ferroxidase activityGO:00432210.2FTMT, FXN
5pseudouridine synthase activityGO:00998210.2PUS1, PUS3
6ferrous iron bindingGO:00819810.1FXN, FECH
7ferric iron bindingGO:0081999.9FXN, FTMT

Products for genes affiliated with Sideroblastic Anemia

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Sources for Sideroblastic Anemia

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3CDC
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
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29KEGG
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