MCID: SDR003
MIFTS: 43

Sideroblastic Anemia

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

Aliases & Classifications for Sideroblastic Anemia

MalaCards integrated aliases for Sideroblastic Anemia:

Name: Sideroblastic Anemia 12 76 53 37 29 15 73
Anemia, Sideroblastic 76 44 40
Anemia Sideroblastic 12 53 55
Anemia, Hypochromic with Iron Loading 12

Classifications:



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Disease Ontology 12 DOID:8955
ICD10 33 D64.3
ICD9CM 35 285.0
MeSH 44 D000756
NCIt 50 C36078
KEGG 37 H00982
UMLS 73 C0002896

Summaries for Sideroblastic Anemia

NIH Rare Diseases : 53 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 myopathy, lactic acidosis, and sideroblastic anemia 1 and anemia, sideroblastic, 1. An important gene associated with Sideroblastic Anemia is ALAS2 (5'-Aminolevulinate Synthase 2), 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).

Wikipedia : 76 Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces... more...

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 74)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 34.8 PUS1 YARS2
2 anemia, sideroblastic, 1 33.5 ABCB7 ALAS1 ALAS2
3 myopathy, lactic acidosis, and sideroblastic anemia 33.4 MT-ATP6 PUS1 YARS2
4 anemia, sideroblastic, 3, pyridoxine-refractory 33.4 GLRX5 SLC25A38
5 autosomal recessive sideroblastic anemia 33.3 HSPA9 SLC25A38
6 pearson marrow-pancreas syndrome 33.0 ALAS2 PUS1 SLC25A38
7 sideroblastic anemia acquired 32.7 ALAS2 MT-ATP6 MT-CO1
8 anemia, sideroblastic, 2, pyridoxine-refractory 32.3 GLRX5 SLC25A38
9 lactic acidosis 29.7 LARS2 MT-ATP6 PUS1 YARS2
10 mitochondrial myopathy 29.5 MT-ATP6 MT-CO1 PUS1 YARS2
11 myopathy 28.9 MT-ATP6 MT-CO1 PUS1 YARS2
12 myopathy, lactic acidosis, and sideroblastic anemia 2 12.5
13 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 12.5
14 pyridoxine-refractory autosomal recessive sideroblastic anemia 12.4
15 myopathy, lactic acidosis, and sideroblastic anemia 3 12.4
16 hydrops, lactic acidosis, and sideroblastic anemia 12.4
17 anemia, sideroblastic, and spinocerebellar ataxia 12.3
18 pyridoxine-responsive sideroblastic anemia 12.2
19 acquired idiopathic sideroblastic anemia 12.2
20 autosomal dominant sideroblastic anemia 12.2
21 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 11.6
22 anemia, sideroblastic, 4 11.3
23 trnt1 deficiency 11.2
24 anemia, hypochromic microcytic, with iron overload 2 11.0
25 leukemia 10.3
26 hemosiderosis 10.3
27 atransferrinemia 10.3 ABCB7 ALAS2
28 acute porphyria 10.2 ALAS1 ALAS2
29 coproporphyria, hereditary 10.1 ALAS1 ALAS2
30 myelodysplastic syndrome 10.1
31 acute leukemia 10.1
32 myeloma, multiple 10.0
33 thalassemia 10.0
34 pancreatitis 10.0
35 refractory anemia 10.0
36 hemochromatosis, type 1 9.9
37 myelofibrosis 9.9
38 thrombocytosis 9.9
39 hairy cell leukemia 9.9
40 depression 9.9
41 deafness, nonsyndromic sensorineural, mitochondrial 9.9 MT-ATP6 MT-CO1
42 leber optic atrophy 9.9 MT-ATP6 MT-CO1
43 cystic echinococcosis 9.8 MT-ATP6 MT-CO1
44 hepatocellular carcinoma 9.8
45 systemic lupus erythematosus 9.8
46 anemia, autoimmune hemolytic 9.8
47 3-methylglutaconic aciduria, type iii 9.8
48 kearns-sayre syndrome 9.8
49 sickle cell anemia 9.8
50 leukemia, acute lymphoblastic 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 Not Applicable

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 29

Anatomical Context for Sideroblastic Anemia

MalaCards organs/tissues related to Sideroblastic Anemia:

41
Bone, Bone Marrow, Liver, Myeloid, Spleen, T Cells, B Cells

Publications for Sideroblastic Anemia

Articles related to Sideroblastic Anemia:

(show top 50) (show all 301)
# Title Authors Year
1
Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia. ( 29139060 )
2018
2
Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology. ( 29787825 )
2018
3
Five-aminolevulinic acid: New approach for congenital sideroblastic anemia. ( 29878633 )
2018
4
Establishment of a cell model of X-linked sideroblastic anemia using genome editing. ( 29908199 )
2018
5
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. ( 29976739 )
2018
6
Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. ( 29499877 )
2018
7
Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing. ( 29611395 )
2018
8
A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia. ( 29419427 )
2018
9
Congenital sideroblastic anemia of a Saudi child. ( 29213171 )
2017
10
Combined Megaloblastic and Sideroblastic Anemia in an Infant Fed With Goat's Milk. ( 28306690 )
2017
11
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. ( 29170023 )
2017
12
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
13
A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype. ( 28731922 )
2017
14
Biology of sideroblastic anemia. ( 28484165 )
2017
15
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia. ( 28667034 )
2017
16
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation. ( 28772256 )
2017
17
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure. ( 28495927 )
2017
18
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (Mlasa) Case Due to A Novel Pus1 Mutation. ( 28832011 )
2017
19
Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia. ( 28232625 )
2017
20
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation. ( 28644307 )
2017
21
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ( 27197761 )
2016
22
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2. ( 27247955 )
2016
23
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
24
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. ( 26821380 )
2016
25
Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia. ( 27038157 )
2016
26
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. ( 27488349 )
2016
27
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. ( 27102574 )
2016
28
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. ( 26491070 )
2015
29
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. ( 25985931 )
2015
30
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. ( 26537577 )
2015
31
Screening for SF3B1 mutations is a useful tool to differentiate between acquired clonal and non-clonal sideroblastic anemia. ( 25330446 )
2014
32
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). ( 25193871 )
2014
33
Transfer RNA and syndromic sideroblastic anemia. ( 25359985 )
2014
34
Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia. ( 25330540 )
2014
35
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. ( 25342667 )
2014
36
Sideroblastic anemia: diagnosis and management. ( 25064706 )
2014
37
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
38
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
39
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. ( 24430573 )
2014
40
Effect of 5-aminolevulinic acid on erythropoiesis: A preclinical in vitro characterization for the treatment of congenital sideroblastic anemia. ( 25450364 )
2014
41
A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia. ( 24624355 )
2014
42
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). ( 22983749 )
2013
43
Pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 24003969 )
2013
44
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. ( 24166784 )
2013
45
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). ( 23553769 )
2013
46
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. ( 23935018 )
2013
47
Sideroblastic anemia secondary to zinc toxicity. ( 24032127 )
2013
48
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. ( 23918765 )
2013
49
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. ( 24323989 )
2013
50
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

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 9.55 ABCB7 ALAS2 MT-ATP6 MT-CO1 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 9.77 ABCB7 HSPA9 LARS2 TRNT1 YARS2
2 ATPase activity GO:0016887 9.33 ABCB7 HSPA9 MT-ATP6
3 tRNA binding GO:0000049 9.32 TRNT1 YARS2
4 pyridoxal phosphate binding GO:0030170 9.26 ALAS1 ALAS2
5 aminoacyl-tRNA ligase activity GO:0004812 8.96 LARS2 YARS2
6 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS1 ALAS2

Sources for Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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