MCID: SDR003
MIFTS: 44

Sideroblastic Anemia malady

Rare diseases, Blood diseases categories

Summaries for Sideroblastic Anemia

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Sideroblastic anemiaĀ 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 pyridoxine-refractory autosomal recessive sideroblastic anemia. An important gene associated with Sideroblastic Anemia is ALAS2 (aminolevulinate, delta-, synthase 2). The compounds protoporphyrin ix and chloride have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid.

Disease Ontology:9 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

Wikipedia:66 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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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 28ICD9CM, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Blood diseases


Aliases & Descriptions:

sideroblastic anemia 9 44 11 63
anemia sideroblastic 9 44 46
anemia, hypochromic with iron loading 9
sideroblastic anemia nos 9
sideroblastic anaemia 9


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Disease Ontology9 DOID:8955
MeSH36 D000756
ICD9CM28 285.0
NCIt41 C36078

Related Diseases for Sideroblastic Anemia

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18GeneCards, 19GeneDecks
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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 62)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked sideroblastic anemia31.6ABCB7, ALAS2
2pyridoxine-refractory autosomal recessive sideroblastic anemia30.9SLC25A38, GLRX5
3mitochondrial myopathy and sideroblastic anemia 130.8PUS1
4pearson syndrome30.3ABCB7, PUS1, ALAS2, GLRX5, SLC25A38
5acquired idiopathic sideroblastic anemia10.7
6myopathy10.7
7x-linked sideroblastic anemia with ataxia10.7
8pyridoxine-responsive sideroblastic anemia10.6
9leukemia10.6
10sideroblastic anemia and mitochondrial myopathy10.5
11lactic acidosis10.5
12myopathy, lactic acidosis, and sideroblastic anemia 210.5
13ataxia10.5
14hemochromatosis10.4
15sideroblastic anemia pyridoxine-responsive autosomal recessive10.4
16acute leukemia10.4
17myelodysplastic syndromes10.4
18sideroblastic anemia with spinocerebellar ataxia10.3
19multiple myeloma10.3
20myeloma10.3
21sideroblastic anemia acquired10.3
22myopathy, lactic acidosis, and sideroblastic anemia 110.3
23refractory anemia10.3
24thrombocytosis10.2
25hairy cell leukemia10.2
26myelofibrosis10.2
27pancreatitis10.2
28thalassemia10.2
29anemia, sideroblastic, with ataxia10.2
30congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome10.2
31malignant histiocytosis10.1
32erythropoietic protoporphyria10.1
33cerebellar ataxia10.1
34histiocytosis10.1
35x-linked cerebellar ataxia10.1
36sickle cell anemia10.1
37splenic abscess10.1
38kearns-sayre syndrome10.1
39hypochromic anemia10.1
40autoimmune hemolytic anemia10.1
41infectious mononucleosis10.1
42chronic myeloid leukemia10.1
43systemic lupus erythematosus10.1
44diabetes mellitus10.1
45hemolytic anemia10.1
46hepatitis10.1
47hepatocellular carcinoma10.1
48lupus erythematosus10.1
49lymphoblastic leukemia10.1
50myeloid leukemia10.1

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



Diseases related to sideroblastic anemia

Symptoms for Sideroblastic Anemia

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Drugs & Therapeutics for Sideroblastic Anemia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Genetic Tests for Sideroblastic Anemia

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Anatomical Context for Sideroblastic Anemia

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34MalaCards
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MalaCards organs/tissues related to Sideroblastic Anemia:

34
Bone marrow, Bone, Myeloid, Liver, Spleen, T cells, B cells

Animal Models for Sideroblastic Anemia or affiliated genes

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Publications for Sideroblastic Anemia

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53PubMed
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Articles related to Sideroblastic Anemia:

(show top 50)    (show all 257)
idTitleAuthorsYear
1
Pathophysiology and genetic mutations in congenital sideroblastic anemia. (24003969)
2013
2
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. (23935018)
2013
3
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (22504945)
2012
4
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. (21800356)
2011
5
Sideroblastic anemia after bariatric surgery. (16432847)
2006
6
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. (15772074)
2005
7
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia. (12406866)
2003
8
Multiple mechanisms for hereditary sideroblastic anemia. (11929048)
2002
9
Reversible sideroblastic anemia associated with the tetracycline analogue COL-3. (11279658)
2001
10
A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. (10577279)
1999
11
Sideroblastic anemia: a mitochondrial disorder. (9256823)
1997
12
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. (9389715)
1997
13
Sideroblastic anemia recurring during two pregnancies. (8990629)
1996
14
Molecular genetics of "X-linked" sideroblastic anemia. (7847329)
1995
15
Pyridoxine-responsive sideroblastic anemia in four children. (7626392)
1995
16
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. (7705839)
1995
17
Zinc-induced sideroblastic anemia: report of a case, review of the literature, and description of the hematologic syndrome. (8172183)
1994
18
Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. (1517489)
1992
19
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. (1415186)
1992
20
Sideroblastic anemia associated with multiple myeloma in Turner's syndrome. (1633353)
1992
21
Primary acquired sideroblastic anemia and myelodysplastic syndrome from a geriatric point of view. (1877285)
1991
22
Sideroblastic anemia: death from iron overload. (2010495)
1991
23
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. (1671320)
1991
24
Risk of leukemic transformation in two types of acquired idiopathic sideroblastic anemia. (2323645)
1990
25
Copper deficiency and sideroblastic anemia associated with zinc ingestion. (3407636)
1988
26
5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia. (3414687)
1988
27
Elevated erythrocyte adenosine deaminase activity in a patient with primary acquired sideroblastic anemia. (3348207)
1988
28
Refractory anemia with ringed sideroblasts (primary acquired sideroblastic anemia). (2854694)
1988
29
Sideroblastic anemia. (3573277)
1987
30
Cytogenetic and cytochemical studies on progenitor cells of primary acquired sideroblastic anemia (PASA): involvement of multipotent myeloid stem cells in PASA clone and mosaicism with normal clone. (3663937)
1987
31
Chromosome abnormalities in acquired idiopathic sideroblastic anemia with subsequent leukemic transformation. (3455846)
1986
32
Acute leukemia following acquired idiopathic sideroblastic anemia. A case report with description of clinical, morphological and cytochemical features. (6428995)
1984
33
Acquired idiopathic sideroblastic anemia: a new chromosomal abnormality. (6871838)
1983
34
Spinal epidural extramedullary hematopoiesis with cord compression in a patient with refractory sideroblastic anemia. Case report. (7097337)
1982
35
Sideroblastic anemia associated with penicillamine therapy. (7305583)
1981
36
Multiple enzymatic defects in mitochondria in hematological cells of patients with primary sideroblastic anemia. (6249845)
1980
37
Idiopathic sideroblastic anemia: presence of sideroblastic changes in the erythropoietic precursors cultured from peripheral blood. (90619)
1979
38
Prognostic value of platelet counts in idiopathic sideroblastic anemia. (630123)
1978
39
Primary sideroblastic anemia masked by bleeding. (79531)
1978
40
Idiopathic acquired sideroblastic anemia terminating in acute myelofibrosis: case report and review of leterature. (318917)
1977
41
Refractory sideroblastic anemia secondary to autoimmune hemolytic anemia. (410222)
1977
42
Cytogenetic studies in sideroblastic anemia. (1247962)
1976
43
Sideroblasts, siderocytes, and sideroblastic anemia. (1088923)
1975
44
Sideroblastic anemia treated with immunosuppressive therapy. (4600293)
1974
45
Delta-aminolevulinic acid synthetase activity in erythroblasts of patients with sideroblastic anemia. (5561051)
1971
46
Sideroblastic anemia following congenital erythroid hypoplasia. (5094263)
1971
47
Evidence for abnormal red cell population in refractory sideroblastic anemia. (5443368)
1970
48
Thrombocytopenia and sideroblastic anemia with pyrazinoic acid amide (pyrazinamide) therapy. (5434719)
1970
49
Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs. (6054596)
1967
50
REFRACTORY SIDEROBLASTIC ANEMIA. CLINICAL AND HEMATOLOGIC STUDY OF TEN CASES. (14233824)
1964

Variations for Sideroblastic Anemia

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Expression for genes affiliated with Sideroblastic Anemia

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Sideroblastic Anemia

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Sideroblastic Anemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1protoporphyrin ix46 25 1211.4ALAS2, ABCB7
2chloride469.4ALAS2, ABCB7
3iron-sulfur469.3ALAS2, ABCB7
4heme30 25 1211.1ALAS2, ABCB7

GO Terms for genes affiliated with Sideroblastic Anemia

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17Gene Ontology
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Cellular components related to Sideroblastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.6ALAS2, YARS2
2mitochondrial inner membraneGO:0057438.6ABCB7, ALAS2, SLC25A38
3mitochondrionGO:0057397.5GLRX5, ALAS2, YARS2, PUS1, ABCB7

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

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:0067839.5SLC25A38, ALAS2
2erythrocyte differentiationGO:0302189.4SLC25A38, ALAS2
3transportGO:0068109.3SLC25A38, ABCB7
4cellular iron ion homeostasisGO:0068799.1ALAS2, ABCB7

Products for genes affiliated with Sideroblastic Anemia

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Sources for Sideroblastic Anemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet