MCID: SDR003
MIFTS: 44

Sideroblastic Anemia malady

Summaries for Sideroblastic Anemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 refractory anemia. 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.

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

Wikipedia:64 Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces... more...

Aliases & Classifications for Sideroblastic Anemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 61UMLS, 45Novoseek, 57SNOMED-CT, 40NCIt, 27ICD9CM, 35MeSH
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Aliases & Descriptions:

sideroblastic anemia 8 43 10 61
anemia sideroblastic 8 43 45
anemia, hypochromic with iron loading 8
sideroblastic anemia nos 8
sideroblastic anaemia 8


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Disease Ontology8 DOID:8955
NCIt40 C36078
ICD9CM27 285.0
MeSH35 D000756

Related Diseases for Sideroblastic Anemia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Sideroblastic Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked sideroblastic anemia31.4ALAS2, ALAS1, ABCB7
2refractory anemia31.0ALAS2, FTMT
3pyridoxine-responsive sideroblastic anemia31.0TFE3
4pyridoxine-refractory autosomal recessive sideroblastic anemia30.9SLC25A38, GLRX5
5deficiency anemia30.8ALAS2, COX5A, FECH, ABCB7
6hemochromatosis30.6ACO1, FXN
7pearson syndrome30.5PUS1, TRMU, GLRX5, ABCB7, SLC25A38, ALAS2
8erythropoietic protoporphyria30.1ALAS2, FECH
9majeed syndrome30.1ACO1, FXN, HSCB
10sideroblastic anemia acquired10.9
11acquired idiopathic sideroblastic anemia10.8
12x-linked sideroblastic anemia with ataxia10.6
13ataxia10.5
14sideroblastic anemia and mitochondrial myopathy10.5
15mitochondrial myopathy and sideroblastic anemia 110.5
16acute leukemia10.4
17sideroblastic anemia pyridoxine-responsive autosomal recessive10.4
18myopathy, lactic acidosis, and sideroblastic anemia 210.4
19myopathy, lactic acidosis, and sideroblastic anemia 110.3
20sideroblastic anemia with spinocerebellar ataxia10.2
21thrombocytosis10.2
22thalassemia10.2
23anemia, sideroblastic, with ataxia10.2
24congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome10.2
25malignant histiocytosis10.1
26lymphoid leukemia10.1
27hemoglobin d disease10.1
28acute myeloid leukemia10.1
29systemic lupus erythematosus10.1
30sickle cell anemia10.1
31splenic abscess10.1
32kearns-sayre syndrome10.1
33hypochromic anemia10.1
34iron deficiency anemia10.1
35autoimmune hemolytic anemia10.1
36infectious mononucleosis10.1
37chronic myeloid leukemia10.1
38n syndrome10.1
39metabolic acidosis10.1
40b cell deficiency10.1
41spinocerebellar ataxia10.1
42t-cell leukemia10.1
43thrombocytopenia10.1
44turner syndrome10.1
45adenine phosphoribosyltransferase deficiency10.1
46char syndrome10.1
47aminoaciduria10.1
48say syndrome10.1
49myelodysplastic syndromes10.1
50primary malignant lymphoma10.1

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



Diseases related to sideroblastic anemia

Clinical Features for Sideroblastic Anemia

Drugs & Therapeutics for Sideroblastic Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Sideroblastic Anemia

Animal Models for Sideroblastic Anemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Sideroblastic Anemia

Sources:
51PubMed
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Articles related to Sideroblastic Anemia:

(show top 50)    (show all 266)
idTitleAuthorsYear
1
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. (24323989)
2013
2
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (22504945)
2012
3
Severe isoniazid related sideroblastic anemia. (22184524)
2011
4
Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts). (16870250)
2007
5
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. (17192398)
2007
6
Dental management of a child with congenital sideroblastic anemia: a case report. (17867397)
2007
7
Vitamin B6-sensitive hereditary sideroblastic anemia]. (14724775)
2004
8
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. (12663458)
2003
9
Multiple mechanisms for hereditary sideroblastic anemia. (11929048)
2002
10
Case report of sideroblastic anemia caused by ingestion of coins. (11421292)
2001
11
Sideroblastic anemia. (11521009)
2001
12
A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]. (11877024)
2000
13
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. (11110715)
2000
14
Animal models for X-linked sideroblastic anemia. (11039663)
2000
15
Sideroblastic anemia following treatment of chronic myeloid leukemia with busulfan. (10637499)
2000
16
The MERRF mutation of mitochondrial DNA in the bone marrow of a patient with acquired idiopathic sideroblastic anemia. (9883816)
1999
17
Dyserythropoietic changes and sideroblastic anemia in patients with hairy cell leukemia before and after therapy with 2-chlorodeoxyadenosine. (9890671)
1998
18
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. (9621516)
1998
19
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. (7705839)
1995
20
Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. (1517489)
1992
21
Sideroblastic anemia associated with multiple myeloma in Turner's syndrome. (1633353)
1992
22
Sideroblastic anemia following autotransplantation for Hodgkin's disease using rHu-G-CSF. (1376186)
1992
23
Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]. (2255060)
1990
24
Hereditary sideroblastic anemia with associated platelet abnormalities. (2816925)
1989
25
A case of sickle cell anemia with severe infection, transfusion inefficiency and transient sideroblastic anemia. (3194191)
1988
26
Acquired idiopathic sideroblastic anemia and terminal deletion of chromosome 11. (3978595)
1985
27
Erythroid and granulocyte/macrophage progenitor cells in primary acquired sideroblastic anemia. (6674386)
1983
28
Tissue iron distribution and isoferritin profile in a patient with hereditary sideroblastic anemia. (7136465)
1982
29
Acute leukemia in idiopathic sideroblastic anemia: response to combination chemotherapy. (7059673)
1982
30
Sideroblastic anemia terminating in myelofibrosis. (7180838)
1982
31
Sideroblastic anemia associated with penicillamine therapy. (7305583)
1981
32
Sideroblastic anemia associated wtih hairy cell leukemia. (7248902)
1981
33
Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate. (7195932)
1981
34
Multiple enzymatic defects in mitochondria in hematological cells of patients with primary sideroblastic anemia. (6249845)
1980
35
Erythremia with special reference to sideroblastic anemia. (6932166)
1980
36
Bone marrow delta-aminolaevulinate synthase deficiency in a female with congenital sideroblastic anemia. (7350930)
1980
37
The response of a child with primary sideroblastic anemia to cyclophosphamide. (7397385)
1980
38
Antibody-mediated acquired sideroblastic anemia: response to cytotoxic therapy. (465737)
1979
39
Prognostic value of platelet counts in idiopathic sideroblastic anemia. (630123)
1978
40
Heme synthetase activity in normal human and rat erythroid cells and in sideroblastic anemia. (618683)
1978
41
Idiopathic acquired refractory sideroblastic anemia: Banded chromosome analysis in six patients. (402761)
1977
42
A case of sideroblastic anemia. (1032603)
1976
43
Bone marrow delta-aminolevulinic acid synthetase activity in experimental sideroblastic anemia. (4833846)
1974
44
Sideroblastic anemia in chronic phenacetin misuse. (4790682)
1973
45
Delta-aminolevulinic acid synthetase activity in normal human bone marrow and in patients with idiopathic sideroblastic anemia. (4208577)
1973
46
Refractory sideroblastic anemia (chronic erythremic myelosis). (4516927)
1973
47
Abnormal iron incorporatin, survival protoporphyrin content and fluorescence of one red cell population in preleukemic sideroblastic anemia. (4506619)
1972
48
Evidence for abnormal red cell population in refractory sideroblastic anemia. (5443368)
1970
49
Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs. (6054596)
1967
50
Refractory normoblastic ("sideroblastic") anemia. Clinical and electron microscopic observations. (5939951)
1966

Genetic Variations for Sideroblastic Anemia

Expression for genes affiliated with Sideroblastic Anemia

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

Search GEO for disease gene expression data for Sideroblastic Anemia.

Pathways for genes affiliated with Sideroblastic Anemia

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG
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Pathways related to Sideroblastic Anemia according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Sideroblastic Anemia

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB
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Compounds related to Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate4510.3FTMT, FXN, ACO1
2formyl-coa45 2411.3ALAS2, ALAS1, FECH
3protoporphyrin ix45 11 2412.3FECH, ABCB7, FXN, ALAS2
4vitamin b64510.3FECH, ALAS1, ALAS2
5porphyrin4510.3ALAS1, FECH
6sulfur4510.3FTMT, FXN, ACO1
7pseudouridine45 2411.3PUS3, PUS1
8succinate4510.2COX5A, MT-CO1, FXN
9cholic acid45 29 11 2413.2MT-CO1, FECH, COX5A
10Coenzyme A11 2411.2SUCLA2, ALAS1, ALAS2
11porphobilinogen45 11 2412.2FECH, ALAS1
12deferoxamine45 1111.2ACO1, FXN, FTMT, FECH
135-aminolevulinic acid45 2411.2FECH, ACO1, ALAS1, ALAS2
14haem4510.2COX5A, FECH, ALAS1, ALAS2
15uridine45 11 2412.2PUS1, PUS3, COX5A
16nevirapine45 50 1112.2ABCB7, COX5A
17N-Formylmethionine1110.1MT-CO1, COX5A
18copper45 2411.1FTMT, MT-CO1, FECH, COX5A
19iron-sulfur4510.0FECH, FTMT, ABCB7, FXN, ACO1, ALAS2
20citrate459.9ACO1, MT-CO1, COX5A
21heme29 11 2411.7COX5A, FECH, MT-CO1, ABCB7, FXN, SUCLA2
22atp45 2910.6COX5A, APRT, MT-CO1, FTMT, ABCB7, FXN
23zinc45 2410.5FECH, ABCB7, FXN, ACO1, ALAS2
24oxygen45 2410.5COX5A, FECH, MT-CO1, FTMT, ABCB7, FXN
25iron45 2410.1ALAS2, COX5A, HSCB, SFXN4, FECH, MT-CO1

GO Terms for genes affiliated with Sideroblastic Anemia

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet