MCID: SDR003
MIFTS: 38

Sideroblastic Anemia malady

Rare diseases, Metabolic diseases, Blood diseases categories

Summaries for Sideroblastic Anemia

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NIH Rare Diseases:41 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 based summary: Sideroblastic Anemia, also known as anemia sideroblastic, is related to mitochondrial myopathy and sideroblastic anemia 1 and anemia, sideroblastic, x-linked. 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: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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Sideroblastic Anemia, Aliases & Descriptions:

Name: Sideroblastic Anemia 9 41 11 60
Anemia Sideroblastic 9 41 43
 
Anemia, Hypochromic with Iron Loading 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:8955
ICD9CM27 285.0
NCIt38 C36078
MeSH33 D000756

Related Diseases for Sideroblastic Anemia

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Diseases in the Sideroblastic Anemia family:

Sideroblastic Anemia Acquired Adult-Onset Autosomal Recessive Sideroblastic Anemia
Autosomal Recessive Sideroblastic Anemia

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial myopathy and sideroblastic anemia 131.5PUS1
2anemia, sideroblastic, x-linked31.4ALAS2, ABCB7
3anemia, sideroblastic, pyridoxine-refractory, autosomal recessive30.8GLRX5, SLC25A38
4pearson syndrome29.5ABCB7, PUS1, ALAS2, GLRX5, SLC25A38
5x-linked sideroblastic anemia with ataxia10.7
6myopathy10.7
7pyridoxine-responsive sideroblastic anemia10.7
8leukemia10.6
9myopathy, lactic acidosis, and sideroblastic anemia 210.6
10lactic acidosis10.6
11sideroblastic anemia pyridoxine-responsive autosomal recessive10.5
12ataxia10.5
13hemochromatosis10.5
14sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay10.5
15autosomal recessive sideroblastic anemia10.5
16myelodysplastic syndrome10.4
17acute leukemia10.4
18sideroblastic anemia acquired10.4
19adult-onset autosomal recessive sideroblastic anemia10.4
20multiple myeloma10.4
21thalassemia10.4
22myeloma10.4
23congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome10.4
24refractory anemia10.4
25myelofibrosis10.3
26thrombocytosis10.3
27kearns-sayre syndrome10.3
28glucose-6-phosphate dehydrogenase deficiency10.3
29pancreatitis10.3
30systemic lupus erythematosus10.1
31thiamine-responsive megaloblastic anemia syndrome10.1
32hepatocellular carcinoma10.1
33sickle cell anemia10.1
34myopathy with lactic acidosis, hereditary10.1
35adenine phosphoribosyltransferase deficiency10.1
36wolfram syndrome10.1
37anemia, sideroblastic, with ataxia10.1
38hematopoietic stem cell transplantation10.1
39hemolytic anemia10.1
40hepatitis10.1
41thrombocytopenia10.1
42splenic abscess10.1
43autoimmune hemolytic anemia10.1
44lupus erythematosus10.1
45lymphoblastic leukemia10.1
46myeloid leukemia10.1
47spinocerebellar ataxia10.1
48mitochondrial disorders10.1
49aminoaciduria10.1
50proteinuria10.1

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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Drug clinical trials:

Search ClinicalTrials for Sideroblastic Anemia

Search NIH Clinical Center for Sideroblastic Anemia

Genetic Tests for Sideroblastic Anemia

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Anatomical Context for Sideroblastic Anemia

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MalaCards organs/tissues related to Sideroblastic Anemia:

31
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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Articles related to Sideroblastic Anemia:

(show top 50)    (show all 269)
idTitleAuthorsYear
1
Transfer RNA and syndromic sideroblastic anemia. (25359985)
2014
2
Pathophysiology and genetic mutations in congenital sideroblastic anemia. (24003969)
2013
3
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. (23935018)
2013
4
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (22504945)
2012
5
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. (21800356)
2011
6
Sideroblastic anemia after bariatric surgery. (16432847)
2006
7
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
8
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia. (12406866)
2003
9
Multiple mechanisms for hereditary sideroblastic anemia. (11929048)
2002
10
Reversible sideroblastic anemia associated with the tetracycline analogue COL-3. (11279658)
2001
11
A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. (10577279)
1999
12
Sideroblastic anemia: a mitochondrial disorder. (9256823)
1997
13
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. (9389715)
1997
14
Sideroblastic anemia recurring during two pregnancies. (8990629)
1996
15
Molecular genetics of "X-linked" sideroblastic anemia. (7847329)
1995
16
Pyridoxine-responsive sideroblastic anemia in four children. (7626392)
1995
17
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. (7705839)
1995
18
Zinc-induced sideroblastic anemia: report of a case, review of the literature, and description of the hematologic syndrome. (8172183)
1994
19
Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. (1517489)
1992
20
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. (1415186)
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
Cytogenetic studies in sideroblastic anemia. (1247962)
1976
42
Sideroblasts, siderocytes, and sideroblastic anemia. (1088923)
1975
43
Sideroblastic anemia treated with immunosuppressive therapy. (4600293)
1974
44
Delta-aminolevulinic acid synthetase activity in erythroblasts of patients with sideroblastic anemia. (5561051)
1971
45
Sideroblastic anemia following congenital erythroid hypoplasia. (5094263)
1971
46
Evidence for abnormal red cell population in refractory sideroblastic anemia. (5443368)
1970
47
Thrombocytopenia and sideroblastic anemia with pyrazinoic acid amide (pyrazinamide) therapy. (5434719)
1970
48
Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs. (6054596)
1967
49
Electron microscopic observation on a case of sideroblastic anemia. (5594578)
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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Search GEO for disease gene expression data for Sideroblastic Anemia.

Pathways for genes affiliated with Sideroblastic Anemia

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Compounds for genes affiliated with Sideroblastic Anemia

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1protoporphyrin ix43 24 1211.4ALAS2, ABCB7
2chloride439.4ALAS2, ABCB7
3iron-sulfur439.3ALAS2, ABCB7
4heme28 24 1211.1ALAS2, ABCB7

GO Terms for genes affiliated with Sideroblastic Anemia

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.6ALAS2, YARS2
2mitochondrial inner membraneGO:00057438.6ABCB7, ALAS2, SLC25A38
3mitochondrionGO:00057397.5GLRX5, ALAS2, YARS2, PUS1, ABCB7

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

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:00067839.5SLC25A38, ALAS2
2erythrocyte differentiationGO:00302189.4SLC25A38, ALAS2
3transportGO:00068109.3SLC25A38, ABCB7
4cellular iron ion homeostasisGO:00068799.1ALAS2, ABCB7

Products for genes affiliated with Sideroblastic Anemia

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Sources for Sideroblastic Anemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet