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MCID: SDR003
MIFTS: 49

Sideroblastic Anemia

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Sideroblastic Anemia

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MalaCards integrated aliases for Sideroblastic Anemia:

Name: Sideroblastic Anemia 12 73 20 58 36 29 6 15 70
Anemia, Sideroblastic 73 44 39
Anemia Sideroblastic 12 20 54
Anemia, Hypochromic with Iron Loading 12

Characteristics:

Orphanet epidemiological data:

58
sideroblastic anemia
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,Not applicable,X-linked dominant,X-linked recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Cancer diseases
Anatomical: Blood diseases Immune diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:8955
KEGG 36 H00982
ICD9CM 34 285.0
MeSH 44 D000756
NCIt 50 C36078
SNOMED-CT 67 154810008
ICD10 32 D64.3
MESH via Orphanet 45 D000756
ICD10 via Orphanet 33 D64.0 D64.1 D64.2 more
UMLS via Orphanet 71 C0002896
Orphanet 58 ORPHA1047
UMLS 70 C0002896
Sources

Summaries for Sideroblastic Anemia

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GARD : 20 Sideroblastic anemia is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. In this condition, the iron inside red blood cells is inadequately used to make hemoglobin, despite normal amounts of iron. As a result, iron accumulates in the red blood cells, giving a ringed appearance to the nucleus (ringed sideroblast). The signs and symptoms of this condition may include fatigue, breathing difficulties, weakness, and enlargement of the liver or spleen. There are many potential causes of sideroblastic anemia. Depending on the cause, it can be classified as hereditary (sometimes called congenital ), acquired, and idiopathic (cause unknown). The treatment for this condition differs depending on the underlying cause. If acquired, avoidance and or removal of the toxin or drug can lead to recovery. Vitamin B6 (pyridoxine) may be useful in some circumstances.

MalaCards based summary : Sideroblastic Anemia, also known as anemia, sideroblastic, is related to sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and myopathy, lactic acidosis, and sideroblastic anemia 3. An important gene associated with Sideroblastic Anemia is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways are Biosynthesis of cofactors and Porphyrin and chlorophyll metabolism. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and spleen.

Disease Ontology : 12 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

KEGG : 36 Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biogenesis or transport, and mitochondrial metabolism.

Wikipedia : 73 Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces... more...

Sources

Related Diseases for Sideroblastic Anemia

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Diseases in the Sideroblastic Anemia family:

Anemia, Sideroblastic, 4 Anemia, Sideroblastic, 1
Autosomal Dominant Sideroblastic Anemia 4 Autosomal Recessive Sideroblastic Anemia

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

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 33.2 YARS2 TRNT1 PUS1
2 myopathy, lactic acidosis, and sideroblastic anemia 3 33.1 YARS2 PUS1 MT-ATP6
3 myopathy, lactic acidosis, and sideroblastic anemia 2 33.1 YARS2 SLC25A38 PUS1 MT-ATP6
4 myopathy, lactic acidosis, and sideroblastic anemia 1 33.0 YARS2 SLC25A38 PUS1 MT-ATP6 GLRX5 ABCB7
5 autosomal recessive sideroblastic anemia 32.7 SLC25A38 HSPA9
6 hydrops, lactic acidosis, and sideroblastic anemia 32.5 LARS2-AS1 LARS2
7 myopathy, lactic acidosis, and sideroblastic anemia 32.5 YARS2 PUS1 MT-ATP6
8 pearson marrow-pancreas syndrome 32.3 YARS2 SLC25A38 PUS1 MT-ATP6 GLRX5 ALAS2
9 anemia, sideroblastic, and spinocerebellar ataxia 32.1 SLC25A38 GLRX5 FXN FECH ALAS2 ACO1
10 anemia, sideroblastic, 1 31.7 SLC25A38 PUS1 PAGE2B GLRX5 FXN FECH
11 cutaneous porphyria 31.5 UROD FECH ALAS2 ALAS1
12 microcytic anemia 31.0 GLRX5 ALAS2 ACO1
13 mitochondrial myopathy 30.9 YARS2 PUS1 MT-CO1 MT-ATP6 LARS2
14 lactic acidosis 30.8 YARS2 PUS1 MT-CO1 MT-ATP6 LARS2-AS1 LARS2
15 hypochromic microcytic anemia 30.8 SLC25A38 GLRX5 ALAS2 ACO1
16 myopathy 30.8 YARS2 SOD2 PUS1 MT-CO1 MT-ATP6 LARS2
17 deficiency anemia 30.7 SLC25A38 MT-ATP6 FXN FECH ALAS2 ACO1
18 x-linked protoporphyria 30.4 FECH ALAS2
19 perrault syndrome 4 30.3 LARS2-AS1 LARS2
20 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.1 YARS2 MT-CO1 MT-ATP6 LARS2
21 porphyria 29.9 UROD FECH ALAS2 ALAS1
22 hemochromatosis, type 1 29.8 UROD FXN FECH ALAS2 ACO1 ABCB7
23 kearns-sayre syndrome 29.8 PUS1 MT-CO1 MT-ATP6 FXN
24 mitochondrial disorders 29.8 YARS2 SOD2 PUS1 MT-CO1 MT-ATP6 LARS2
25 perrault syndrome 29.6 YARS2 LARS2-AS1 LARS2 FXN
26 protoporphyria, erythropoietic, 1 29.4 UROD SLC25A38 GLRX5 FECH ALAS2 ALAS1
27 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.8
28 anemia, sideroblastic, 3, pyridoxine-refractory 11.7
29 trnt1 deficiency 11.5
30 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 11.5
31 anemia, sideroblastic, 4 11.4
32 pyridoxine-responsive sideroblastic anemia 11.4
33 autosomal dominant sideroblastic anemia 4 11.4
34 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 11.4
35 anemia, sideroblastic, 2, pyridoxine-refractory 11.2
36 anemia, hypochromic microcytic, with iron overload 2 11.1
37 constitutional sideroblastic anemia 11.1
38 hemosiderosis 10.7
39 rare hereditary hemochromatosis 10.7
40 myelodysplastic syndrome 10.5
41 refractory anemia 10.5
42 acute leukemia 10.5
43 iron metabolism disease 10.4
44 thrombocytosis 10.4
45 x-linked cerebellar ataxia 10.3 ALAS2 ABCB7
46 anemia, hypochromic microcytic, with iron overload 1 10.3
47 ataxia and polyneuropathy, adult-onset 10.3
48 perrault syndrome 1 10.3 LARS2-AS1 LARS2
49 thelaziasis 10.3 MT-CO1 MT-ATP6
50 pancytopenia 10.3

Comorbidity relations with Sideroblastic Anemia via Phenotypic Disease Network (PDN): (show all 12)


Active Peptic Ulcer Disease Acute Cystitis
Chronic Kidney Disease Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypothyroidism Iron Deficiency Anemia
Neutropenia Osteoporosis
Protein-Energy Malnutrition Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2

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



Diseases related to Sideroblastic Anemia
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Symptoms & Phenotypes for Sideroblastic Anemia

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Drugs & Therapeutics for Sideroblastic Anemia

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2 7439-89-6 23925 29936
2
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381 214348
3
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
4 Chelating Agents Phase 2
5 Iron Chelating Agents Phase 2
6 Liver Extracts Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Open-label Phase II Trial Evaluating Deferasirox Compared With Deferoxamine in Patients With Cardiac Iron Overload Due to Chronic Blood Transfusions Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine

Search NIH Clinical Center for Sideroblastic Anemia

Cochrane evidence based reviews: anemia, sideroblastic

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Genetic Tests for Sideroblastic Anemia

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Genetic tests related to Sideroblastic Anemia:

# Genetic test Affiliating Genes
1 Sideroblastic Anemia 29
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Anatomical Context for Sideroblastic Anemia

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MalaCards organs/tissues related to Sideroblastic Anemia:

40
Bone Marrow, Myeloid, Spleen, Liver, Pancreas, Bone, Brain
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Publications for Sideroblastic Anemia

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Articles related to Sideroblastic Anemia:

(show top 50) (show all 815)
# Title Authors PMID Year
1
The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations. 54 61
20093295 2010
2
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation. 54 61
20393584 2010
3
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 61 54
19731322 2010
4
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. 61 54
19786205 2009
5
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. 54 61
18760763 2008
6
The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. 61 54
18398482 2008
7
The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin. 61 54
18160053 2008
8
Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G. 54 61
19066423 2008
9
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. 61 54
16735131 2006
10
Biosynthesis of heme in mammals. 54 61
16839620 2006
11
Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes. 54 61
16716198 2006
12
Strategies for biology- and molecular-based treatment of myelodysplastic syndromes. 54 61
16178803 2005
13
[Progress of study on sideroblastic anemia and its possible gene therapy--review]. 61 54
15972158 2005
14
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. 54 61
15772074 2005
15
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. 54 61
15971356 2005
16
Onset of X-linked sideroblastic anemia in the fourth decade. 54 61
15477213 2004
17
[Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia]. 54 61
15498136 2004
18
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast. 54 61
15282205 2004
19
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). 61 54
15108122 2004
20
[Genetics of hereditary iron overload]. 61 54
15506716 2004
21
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. 54 61
12663458 2003
22
Late-onset X-linked sideroblastic anemia following hemodialysis. 61 54
12531813 2003
23
Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. 61 54
12480705 2003
24
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia. 54 61
12406866 2003
25
Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors. 54 61
12393561 2003
26
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone. 61 54
12938016 2003
27
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. 54 61
12393718 2002
28
The genetics of inherited sideroblastic anemias. 61 54
12382202 2002
29
Absence of mitochondrial superoxide dismutase results in a murine hemolytic anemia responsive to therapy with a catalytic antioxidant. 54 61
11304553 2001
30
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. 61 54
11110715 2000
31
[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]. 54 61
11877024 2000
32
Animal models for X-linked sideroblastic anemia. 61 54
11039663 2000
33
Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload. 61 54
10562540 1999
34
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. 61 54
10577279 1999
35
Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis. 54 61
10582344 1999
36
[An infant case of sideroblastic anemia that responded to oral pyridoxine]. 54 61
10496043 1999
37
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). 54 61
10196363 1999
38
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. 54 61
10029606 1999
39
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. 54 61
9226183 1997
40
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. 61 54
7560104 1995
41
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. 54 61
7705839 1995
42
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. 61 54
7592563 1995
43
5-Aminolevulinate synthase and the first step of heme biosynthesis. 54 61
7592562 1995
44
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. 54 61
7949148 1994
45
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. 54 61
8107717 1994
46
Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia. 54 61
8089650 1993
47
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia. 54 61
1301172 1992
48
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. 54 61
1415186 1992
49
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations. 61 54
1577484 1992
50
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. 61 54
2347585 1990
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Variations for Sideroblastic Anemia

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ClinVar genetic disease variations for Sideroblastic Anemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PUS1 NM_025215.6(PUS1):c.1047C>T (p.Asn349=) SNV Likely benign 721364 rs145061048 GRCh37: 12:132426339-132426339
GRCh38: 12:131941794-131941794
2 PUS1 NM_025215.6(PUS1):c.1065G>T (p.Pro355=) SNV Likely benign 512031 rs147555676 GRCh37: 12:132426357-132426357
GRCh38: 12:131941812-131941812
3 PUS1 NM_025215.6(PUS1):c.1197C>T (p.Phe399=) SNV Benign 138854 rs35461276 GRCh37: 12:132426489-132426489
GRCh38: 12:131941944-131941944
4 PUS1 NM_025215.6(PUS1):c.345C>T (p.Asp115=) SNV Benign 138857 rs145798848 GRCh37: 12:132416761-132416761
GRCh38: 12:131932216-131932216
5 PUS1 NM_025215.6(PUS1):c.364C>A (p.Arg122=) SNV Benign 138858 rs142954643 GRCh37: 12:132416780-132416780
GRCh38: 12:131932235-131932235
6 PUS1 NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) SNV Benign 138859 rs76655496 GRCh37: 12:132416813-132416813
GRCh38: 12:131932268-131932268
7 PUS1 NM_025215.6(PUS1):c.621G>A (p.Thr207=) SNV Benign 215035 rs142044204 GRCh37: 12:132425913-132425913
GRCh38: 12:131941368-131941368
8 PUS1 NM_025215.6(PUS1):c.999G>C (p.Leu333=) SNV Benign 138853 rs150359622 GRCh37: 12:132426291-132426291
GRCh38: 12:131941746-131941746
Sources

Expression for Sideroblastic Anemia

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Search GEO for disease gene expression data for Sideroblastic Anemia.
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Pathways for Sideroblastic Anemia

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

# Super pathways Score Top Affiliating Genes
1
Biosynthesis of cofactors 36
Show member pathways
 11.48 UROD FECH ALAS2 ALAS1
2
Porphyrin and chlorophyll metabolism 36
Show member pathways
 11.22 UROD FXN FECH ALAS2 ALAS1
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GO Terms for Sideroblastic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.73 YARS2 TRNT1 SOD2 PUS1 LARS2 HSPA9
2 mitochondrial inner membrane GO:0005743 9.63 SLC25A38 MT-CO1 MT-ATP6 FECH ALAS2 ABCB7
3 mitochondrion GO:0005739 9.55 YARS2 TRNT1 SOD2 SLC25A38 PUS1 MT-CO1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.96 SOD2 MT-CO1 GLRX5 FXN FTMT
2 erythrocyte differentiation GO:0030218 9.58 SLC25A38 HSPA9 ALAS2
3 iron-sulfur cluster assembly GO:0016226 9.55 HSPA9 FXN
4 erythrocyte development GO:0048821 9.54 ALAS2 ALAS1
5 porphyrin-containing compound biosynthetic process GO:0006779 9.52 UROD FECH
6 small molecule metabolic process GO:0044281 9.51 GLRX5 FXN
7 oxygen homeostasis GO:0032364 9.49 SOD2 ALAS2
8 hemoglobin biosynthetic process GO:0042541 9.48 ALAS2 ALAS1
9 tetrapyrrole biosynthetic process GO:0033014 9.46 ALAS2 ALAS1
10 porphyrin-containing compound metabolic process GO:0006778 9.43 ALAS2 ALAS1
11 positive regulation of aconitate hydratase activity GO:1904234 9.37 FXN FTMT
12 cellular iron ion homeostasis GO:0006879 9.35 FXN FTMT ALAS2 ACO1 ABCB7
13 protoporphyrinogen IX biosynthetic process GO:0006782 9.33 UROD ALAS2 ALAS1
14 positive regulation of succinate dehydrogenase activity GO:1904231 9.32 FXN FTMT
15 positive regulation of lyase activity GO:0051349 9.26 FXN FTMT
16 heme biosynthetic process GO:0006783 9.1 UROD SLC25A38 FXN FECH ALAS2 ALAS1

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

# Name GO ID Score Top Affiliating Genes
1 tRNA binding GO:0000049 9.5 YARS2 TRNT1 PUS1
2 iron-sulfur cluster binding GO:0051536 9.43 GLRX5 FECH ACO1
3 ferric iron binding GO:0008199 9.4 FXN FTMT
4 ferroxidase activity GO:0004322 9.37 FXN FTMT
5 ferrous iron binding GO:0008198 9.33 FXN FTMT FECH
6 5-aminolevulinate synthase activity GO:0003870 8.96 ALAS2 ALAS1
7 2 iron, 2 sulfur cluster binding GO:0051537 8.8 GLRX5 FXN FECH
Sources

Sources for Sideroblastic Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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