MCID: SDR003
MIFTS: 38

Sideroblastic Anemia malady

Rare diseases, Blood diseases, Metabolic diseases categories

Aliases & Classifications for Sideroblastic Anemia

About this section

Aliases & Descriptions for Sideroblastic Anemia:

Name: Sideroblastic Anemia 10 45 12 65
Anemia Sideroblastic 10 45 47
 
Anemia, Hypochromic with Iron Loading 10
Anemia, Sideroblastic 36


Classifications:



External Ids:

Disease Ontology10 DOID:8955
ICD9CM29 285.0
MeSH36 D000756
NCIt42 C36078

Summaries for Sideroblastic Anemia

About this section
NIH Rare Diseases:45 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, pyridoxine-refractory, autosomal recessive. An important gene associated with Sideroblastic Anemia is PUS1 (Pseudouridylate Synthase 1), and among its related pathways is Glycine, serine and threonine metabolism. Affiliated tissues include bone, bone marrow and myeloid.

Disease Ontology:10 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

Wikipedia:68 Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces... more...

Related Diseases for Sideroblastic Anemia

About this section

Diseases in the Sideroblastic Anemia family:

Autosomal Dominant Sideroblastic Anemia 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial myopathy and sideroblastic anemia 131.2MT-ATP6, PUS1, YARS2
2anemia, sideroblastic, pyridoxine-refractory, autosomal recessive31.1GLRX5, SLC25A38
3anemia, sideroblastic, x-linked11.0
4x-linked sideroblastic anemia with ataxia10.7
5acquired idiopathic sideroblastic anemia10.7
6myopathy10.7
7pyridoxine-responsive sideroblastic anemia10.7
8myopathy, lactic acidosis, and sideroblastic anemia 210.7
9leukemia10.6
10sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay10.6
11lactic acidosis10.6
12sideroblastic anemia pyridoxine-responsive autosomal recessive10.6
13ataxia10.6
14myopathy, lactic acidosis, and sideroblastic anemia 310.6
15hemochromatosis10.5
16pearson syndrome10.5
17autosomal dominant sideroblastic anemia10.5
18autosomal recessive sideroblastic anemia10.5
19myelodysplastic syndrome10.4
20acute leukemia10.4
21sideroblastic anemia acquired10.4
22adult-onset autosomal recessive sideroblastic anemia10.4
23multiple myeloma10.4
24anemia, sideroblastic, with ataxia10.4
25thalassemia10.4
26myeloma10.4
27congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome10.4
28refractory anemia10.4
29myelofibrosis10.3
30thrombocytosis10.3
31glucose-6-phosphate dehydrogenase deficiency10.3
32kearns-sayre syndrome10.3
33pancreatitis10.3
34isolated cytochrome c oxidase deficiency10.1GLRX5, SLC25A38
35systemic lupus erythematosus10.1
36thiamine-responsive megaloblastic anemia syndrome10.1
37hepatocellular carcinoma10.1
38wolfram syndrome10.1
39sickle cell anemia10.1
40myopathy with lactic acidosis, hereditary10.1
41adenine phosphoribosyltransferase deficiency10.1
42hematopoietic stem cell transplantation10.1
43hemolytic anemia10.1
44hepatitis10.1
45thrombocytopenia10.1
46splenic abscess10.1
47autoimmune hemolytic anemia10.1
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

About this section

Drugs & Therapeutics for Sideroblastic Anemia

About this section

Drugs for Sideroblastic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 29577439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
2
Deferoxamineapproved, investigationalPhase 24470-51-92973
Synonyms:
DF B
DFO
DFOA
DFOM
Deferoxamide B
Deferoxamin
Deferoxamina
Deferoxamine
Deferoxamine B
Deferoxamine Hydrochloride
 
Deferoxamine Mesylate
Deferoxamine mesylate
Deferoxaminum
Deferrioxamine
Deferrioxamine B
Deferrioxamine b
Desferal
Desferrioxamine
Desferrioxamine B
Déferoxamine
N-Benzoylferrioxamine B
3
Deferasiroxapproved, investigationalPhase 283201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron OverloadCompletedNCT00600938Phase 2
2Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
3Efficacy of Invitro Expanded Bone Marrow Derived Allogeneic Mesenchymal Stem Cell Transplantation Via Portal Vein or Hepatic Artery or Peripheral Vein in Patients With Wilson CirrhosisCompletedNCT01378182
4GDF 15 in Sickle Cell Disease and Hereditary SpherocytosisNot yet recruitingNCT01201135

Search NIH Clinical Center for Sideroblastic Anemia


Cochrane evidence based reviews: Anemia, Sideroblastic

Genetic Tests for Sideroblastic Anemia

About this section

Anatomical Context for Sideroblastic Anemia

About this section

MalaCards organs/tissues related to Sideroblastic Anemia:

33
Bone, Bone marrow, Myeloid, Liver, B cells, T cells, Spleen

Animal Models for Sideroblastic Anemia or affiliated genes

About this section

Publications for Sideroblastic Anemia

About this section

Articles related to Sideroblastic Anemia:

(show top 50)    (show all 270)
idTitleAuthorsYear
1
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. (26537577)
2015
2
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. (26491070)
2015
3
Transfer RNA and syndromic sideroblastic anemia. (25359985)
2014
4
Pathophysiology and genetic mutations in congenital sideroblastic anemia. (24003969)
2013
5
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. (23935018)
2013
6
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (22504945)
2012
7
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. (21800356)
2011
8
Sideroblastic anemia after bariatric surgery. (16432847)
2006
9
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
10
Multiple mechanisms for hereditary sideroblastic anemia. (11929048)
2002
11
Reversible sideroblastic anemia associated with the tetracycline analogue COL-3. (11279658)
2001
12
A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. (10577279)
1999
13
Sideroblastic anemia: a mitochondrial disorder. (9256823)
1997
14
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. (9389715)
1997
15
Sideroblastic anemia recurring during two pregnancies. (8990629)
1996
16
Molecular genetics of "X-linked" sideroblastic anemia. (7847329)
1995
17
Pyridoxine-responsive sideroblastic anemia in four children. (7626392)
1995
18
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. (7705839)
1995
19
Zinc-induced sideroblastic anemia: report of a case, review of the literature, and description of the hematologic syndrome. (8172183)
1994
20
Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. (1517489)
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

About this section

Expression for genes affiliated with Sideroblastic Anemia

About this section
Search GEO for disease gene expression data for Sideroblastic Anemia.

Pathways for genes affiliated with Sideroblastic Anemia

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6ALAS1, ALAS2

GO Terms for genes affiliated with Sideroblastic Anemia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057598.8ALAS1, ALAS2, GLRX5, YARS2
2mitochondrial inner membraneGO:00057438.2ABCB7, ALAS2, MT-ATP6, MT-CO1, SLC25A38
3mitochondrionGO:00057395.6ABCB7, ALAS1, ALAS2, FTMT, GLRX5, MT-ATP6

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1erythrocyte differentiationGO:003021810.3ALAS2, SLC25A38
2tetrapyrrole biosynthetic processGO:003301410.2ALAS1, ALAS2
3biosynthetic processGO:000905810.1ALAS1, ALAS2
4protoporphyrinogen IX biosynthetic processGO:000678210.0ALAS1, ALAS2
5porphyrin-containing compound metabolic processGO:000677810.0ALAS1, ALAS2
6heme biosynthetic processGO:00067839.6ALAS1, ALAS2, SLC25A38
7cellular iron ion homeostasisGO:00068799.6ABCB7, ALAS2, FTMT
8small molecule metabolic processGO:00442817.8ABCB7, ALAS1, ALAS2, MT-ATP6, MT-CO1

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

idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:000387010.1ALAS1, ALAS2
2transferase activityGO:00167409.7ALAS1, ALAS2
3pyridoxal phosphate bindingGO:00301709.6ALAS1, ALAS2
4tRNA bindingGO:00000499.5TRNT1, YARS2

Sources for Sideroblastic Anemia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet