MCID: SDR003
MIFTS: 43

Sideroblastic Anemia

Categories: Rare diseases, Blood diseases, Metabolic diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Sideroblastic Anemia

MalaCards integrated aliases for Sideroblastic Anemia:

Name: Sideroblastic Anemia 12 72 49 36 28 14 69
Anemia Sideroblastic 12 49 51
Anemia, Sideroblastic 72 41
Anemia, Hypochromic with Iron Loading 12

Classifications:



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Disease Ontology 12 DOID:8955
ICD10 32 D64.3
ICD9CM 34 285.0
MeSH 41 D000756
NCIt 46 C36078
KEGG 36 H00982
UMLS 69 C0002896

Summaries for Sideroblastic Anemia

NIH Rare Diseases : 49 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. Last updated: 1/26/2017

MalaCards based summary : Sideroblastic Anemia, also known as anemia sideroblastic, is related to myopathy, lactic acidosis, and sideroblastic anemia 1 and pyridoxine-refractory autosomal recessive sideroblastic anemia. An important gene associated with Sideroblastic Anemia is PUS1 (Pseudouridylate Synthase 1), and among its related pathways/superpathways is Glycine, serine and threonine metabolism. The drugs Iron and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver.

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

Related Diseases for Sideroblastic Anemia

Diseases in the Sideroblastic Anemia family:

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

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 34.3 PUS1 YARS2
2 pyridoxine-refractory autosomal recessive sideroblastic anemia 34.0 GLRX5 SLC25A38
3 anemia, sideroblastic, 1 33.2 ABCB7 ALAS1 ALAS2
4 autosomal recessive sideroblastic anemia 33.2 HSPA9 SLC25A38
5 myopathy, lactic acidosis, and sideroblastic anemia 33.0 MT-ATP6 PUS1 YARS2
6 anemia, sideroblastic, 3, pyridoxine-refractory 33.0 GLRX5 SLC25A38
7 pearson marrow-pancreas syndrome 32.7 ALAS2 PUS1 SLC25A38
8 anemia, sideroblastic, 2, pyridoxine-refractory 31.9 GLRX5 SLC25A38
9 mitochondrial myopathy 30.1 MT-ATP6 PUS1 YARS2
10 lactic acidosis 29.7 LARS2 MT-ATP6 PUS1 YARS2
11 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 12.5
12 myopathy, lactic acidosis, and sideroblastic anemia 2 12.5
13 hydrops, lactic acidosis, and sideroblastic anemia 12.3
14 myopathy, lactic acidosis, and sideroblastic anemia 3 12.3
15 anemia, sideroblastic, and spinocerebellar ataxia 12.3
16 pyridoxine-responsive sideroblastic anemia 12.3
17 autosomal dominant sideroblastic anemia 12.2
18 acquired idiopathic sideroblastic anemia 12.2
19 sideroblastic anemia acquired 12.0
20 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 11.7
21 anemia, sideroblastic, 4 11.3
22 trnt1 deficiency 11.2
23 anemia, hypochromic microcytic, with iron overload 2 11.0
24 myopathy 10.4
25 leukemia 10.3
26 hemosiderosis 10.3
27 ataxia and polyneuropathy, adult-onset 10.2
28 myelodysplastic syndrome 10.1
29 acute leukemia 10.1
30 acute porphyria 10.1 ALAS1 ALAS2
31 coproporphyria, hereditary 10.0 ALAS1 ALAS2
32 myeloma, multiple 10.0
33 thalassemia 10.0
34 refractory anemia 10.0
35 atransferrinemia 10.0 ABCB7 ALAS2
36 hemochromatosis, type 1 9.9
37 myelofibrosis 9.9
38 thrombocytosis 9.9
39 hairy cell leukemia 9.9
40 pancreatitis 9.9
41 hepatocellular carcinoma 9.8
42 systemic lupus erythematosus 9.8
43 anemia, autoimmune hemolytic 9.8
44 kearns-sayre syndrome 9.8
45 sickle cell anemia 9.8
46 leukemia, chronic myeloid 9.8
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
48 hemoglobin h disease 9.8
49 beta-thalassemia 9.8
50 adenine phosphoribosyltransferase deficiency 9.8

Comorbidity relations with Sideroblastic Anemia via Phenotypic Disease Network (PDN): (show all 13)


Active Peptic Ulcer Disease Acute Cystitis
Chronic Kidney Failure Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypothyroidism Iron Deficiency Anemia
Ischemic Heart Disease 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

Symptoms & Phenotypes for Sideroblastic Anemia

Drugs & Therapeutics for Sideroblastic Anemia

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
2 GDF 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
4 Efficacy of Invitro Expanded Bone Marrow Derived Allogeneic Mesenchymal Stem Cell Transplantation Via Portal Vein or Hepatic Artery or Peripheral Vein in Patients With Wilson Cirrhosis Completed NCT01378182

Search NIH Clinical Center for Sideroblastic Anemia

Cochrane evidence based reviews: anemia, sideroblastic

Genetic Tests for Sideroblastic Anemia

Genetic tests related to Sideroblastic Anemia:

# Genetic test Affiliating Genes
1 Sideroblastic Anemia 28

Anatomical Context for Sideroblastic Anemia

MalaCards organs/tissues related to Sideroblastic Anemia:

38
Bone, Bone Marrow, Liver, Spleen, Myeloid, T Cells, B Cells

Publications for Sideroblastic Anemia

Articles related to Sideroblastic Anemia:

(show top 50) (show all 294)
# Title Authors Year
1
Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia. ( 29139060 )
2018
2
A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia. ( 29419427 )
2018
3
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia. ( 28667034 )
2017
4
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure. ( 28495927 )
2017
5
Biology of sideroblastic anemia. ( 28484165 )
2017
6
A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review. ( 28840292 )
2017
7
Congenital sideroblastic anemia of a Saudi child. ( 29213171 )
2017
8
Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia. ( 28232625 )
2017
9
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (Mlasa) Case Due to A Novel Pus1 Mutation. ( 28832011 )
2017
10
Combined Megaloblastic and Sideroblastic Anemia in an Infant Fed With Goat's Milk. ( 28306690 )
2017
11
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation. ( 28644307 )
2017
12
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. ( 29170023 )
2017
13
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation. ( 28772256 )
2017
14
A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype. ( 28731922 )
2017
15
Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia. ( 27038157 )
2016
16
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. ( 26821380 )
2016
17
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
18
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2. ( 27247955 )
2016
19
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. ( 27488349 )
2016
20
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ( 27197761 )
2016
21
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. ( 27102574 )
2016
22
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. ( 26491070 )
2015
23
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. ( 25985931 )
2015
24
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. ( 26537577 )
2015
25
Screening for SF3B1 mutations is a useful tool to differentiate between acquired clonal and non-clonal sideroblastic anemia. ( 25330446 )
2014
26
Effect of 5-aminolevulinic acid on erythropoiesis: A preclinical in vitro characterization for the treatment of congenital sideroblastic anemia. ( 25450364 )
2014
27
A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia. ( 24624355 )
2014
28
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. ( 25342667 )
2014
29
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. ( 25037980 )
2014
30
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. ( 24430573 )
2014
31
Sideroblastic anemia: diagnosis and management. ( 25064706 )
2014
32
Percutaneous excretion of iron and ferritin (through Al-hijamah) as a novel treatment for iron overload in beta-thalassemia major, hemochromatosis and sideroblastic anemia. ( 24857772 )
2014
33
Transfer RNA and syndromic sideroblastic anemia. ( 25359985 )
2014
34
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). ( 25193871 )
2014
35
Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia. ( 25330540 )
2014
36
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. ( 24166784 )
2013
37
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. ( 23935018 )
2013
38
Sideroblastic anemia secondary to zinc toxicity. ( 24032127 )
2013
39
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). ( 22983749 )
2013
40
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. ( 24323989 )
2013
41
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. ( 23918765 )
2013
42
Pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 24003969 )
2013
43
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). ( 23553769 )
2013
44
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the I^-subunit of succinyl-CoA synthetase (SUCLA2). ( 22740690 )
2012
45
Pyrazinamide-induced sideroblastic anemia. ( 21818765 )
2012
46
X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation. ( 22398176 )
2012
47
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. ( 22504945 )
2012
48
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. ( 21800356 )
2011
49
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. ( 21393332 )
2011
50
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. ( 21252495 )
2011

Variations for Sideroblastic Anemia

Expression for Sideroblastic Anemia

Search GEO for disease gene expression data for Sideroblastic Anemia.

Pathways for Sideroblastic Anemia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.34 ALAS1 ALAS2

GO Terms for Sideroblastic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 ABCB7 ALAS1 ALAS2 GLRX5 HSPA9 LARS2
2 mitochondrial inner membrane GO:0005743 9.46 ABCB7 ALAS2 MT-ATP6 SLC25A38
3 mitochondrial matrix GO:0005759 9.23 ALAS1 ALAS2 GLRX5 HSPA9 LARS2 PUS1

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

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.43 ABCB7 ALAS2
2 tRNA aminoacylation for protein translation GO:0006418 9.4 LARS2 YARS2
3 biosynthetic process GO:0009058 9.37 ALAS1 ALAS2
4 protoporphyrinogen IX biosynthetic process GO:0006782 9.32 ALAS1 ALAS2
5 tetrapyrrole biosynthetic process GO:0033014 9.26 ALAS1 ALAS2
6 porphyrin-containing compound metabolic process GO:0006778 9.16 ALAS1 ALAS2
7 erythrocyte differentiation GO:0030218 9.13 ALAS2 HSPA9 SLC25A38
8 heme biosynthetic process GO:0006783 8.8 ALAS1 ALAS2 SLC25A38

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.72 ABCB7 HSPA9 LARS2 TRNT1 YARS2
2 pyridoxal phosphate binding GO:0030170 9.26 ALAS1 ALAS2
3 tRNA binding GO:0000049 9.16 TRNT1 YARS2
4 aminoacyl-tRNA ligase activity GO:0004812 8.96 LARS2 YARS2
5 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS1 ALAS2

Sources for Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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