MCID: SDR003
MIFTS: 40

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 50 29 14 69
Anemia Sideroblastic 12 50 52
Anemia, Hypochromic with Iron Loading 12
Anemia, Sideroblastic 42

Classifications:



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Disease Ontology 12 DOID:8955
ICD10 33 D64.3
ICD9CM 35 285.0
MeSH 42 D000756
NCIt 47 C36078
UMLS 69 C0002896

Summaries for Sideroblastic Anemia

NIH Rare Diseases : 50 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 x-linked sideroblastic anemia with ataxia and myopathy, lactic acidosis, and sideroblastic anemia 2. 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 Deferasirox 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 : 72 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 67)
id Related Disease Score Top Affiliating Genes
1 x-linked sideroblastic anemia with ataxia 12.5
2 myopathy, lactic acidosis, and sideroblastic anemia 2 12.4
3 myopathy, lactic acidosis, and sideroblastic anemia 1 12.4
4 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 12.3
5 pyridoxine-refractory autosomal recessive sideroblastic anemia 12.2
6 hydrops, lactic acidosis, and sideroblastic anemia 12.2
7 myopathy, lactic acidosis, and sideroblastic anemia 3 12.2
8 autosomal dominant sideroblastic anemia 12.1
9 pyridoxine-responsive sideroblastic anemia 12.1
10 anemia, sideroblastic, 1 12.1
11 acquired idiopathic sideroblastic anemia 12.1
12 myopathy, lactic acidosis, and sideroblastic anemia 12.1
13 sideroblastic anemia pyridoxine-responsive autosomal recessive 12.0
14 sideroblastic anemia acquired 11.9
15 autosomal recessive sideroblastic anemia 11.9
16 anemia, sideroblastic, 3, pyridoxine-refractory 11.7
17 pearson marrow-pancreas syndrome 11.6
18 anemia, sideroblastic, 4 11.2
19 anemia, sideroblastic, with ataxia 11.0
20 anemia, sideroblastic, 2, pyridoxine-refractory 11.0
21 anemia, hypochromic microcytic, with iron overload 2 10.9
22 myopathy 10.3
23 corneal dystrophy, fuchs endothelial, 2 10.3 PUS1 YARS2
24 lactic acidosis 10.3
25 marantic endocarditis 10.3 GLRX5 SLC25A38
26 leukemia 10.2
27 gray platelet syndrome 10.2 GLRX5 SLC25A38
28 ataxia 10.1
29 achalasia, familial esophageal 10.1 ALAS2 PUS1 SLC25A38
30 multiple symmetrical lipomatosis 10.1 ALAS1 ALAS2
31 hemochromatosis 10.1
32 myelodysplastic syndrome 10.1
33 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1 ABCB7 ALAS2
34 intestinal tuberculosis 10.1 ALAS1 ALAS2
35 acute leukemia 10.0
36 multiple myeloma 10.0
37 thalassemia 10.0
38 refractory anemia 10.0
39 combined oxidative phosphorylation deficiency 30 10.0 ALAS1 ALAS2
40 maternal 14q32.2 microdeletion syndrome 9.9 HSPA9 SLC25A38
41 thrombocytosis 9.9
42 hairy cell leukemia 9.9
43 pancreatitis 9.9
44 thalassemia major 9.9
45 congenital fiber-type disproportion 9.8 MT-ATP6 PUS1 YARS2
46 systemic lupus erythematosus 9.7
47 hepatocellular carcinoma 9.7
48 sickle cell anemia 9.7
49 adenine phosphoribosyltransferase deficiency 9.7
50 kearns-sayre syndrome 9.7

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


Active Peptic Ulcer Disease Acute Cystitis
Aplastic Anemia Chronic Kidney Failure
Deficiency Anemia Familial Atrial Fibrillation
Heart Disease Hypothyroidism
Iron Deficiency Anemia Ischemic Heart Disease
Neutropenia Osteoporosis
Protein-Energy Malnutrition

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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Sideroblastic Anemia 29

Anatomical Context for Sideroblastic Anemia

MalaCards organs/tissues related to Sideroblastic Anemia:

39
Bone, Bone Marrow, Liver, Spleen, Myeloid, B Cells, T Cells

Publications for Sideroblastic Anemia

Articles related to Sideroblastic Anemia:

(show top 50) (show all 290)
id Title Authors Year
1
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (Mlasa) Case Due to A Novel Pus1 Mutation. ( 28832011 )
2017
2
Biology of sideroblastic anemia. ( 28484165 )
2017
3
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
4
Combined Megaloblastic and Sideroblastic Anemia in an Infant Fed With Goat's Milk. ( 28306690 )
2017
5
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure. ( 28495927 )
2017
6
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation. ( 28644307 )
2017
7
A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype. ( 28731922 )
2017
8
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation. ( 28772256 )
2017
9
Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia. ( 28232625 )
2017
10
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia. ( 28667034 )
2017
11
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
12
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. ( 27488349 )
2016
13
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. ( 27102574 )
2016
14
Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia. ( 27038157 )
2016
15
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ( 27197761 )
2016
16
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2. ( 27247955 )
2016
17
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. ( 26821380 )
2016
18
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. ( 25985931 )
2015
19
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. ( 26491070 )
2015
20
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. ( 26537577 )
2015
21
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. ( 25342667 )
2014
22
Effect of 5-aminolevulinic acid on erythropoiesis: A preclinical in vitro characterization for the treatment of congenital sideroblastic anemia. ( 25450364 )
2014
23
Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia. ( 25330540 )
2014
24
Sideroblastic anemia: diagnosis and management. ( 25064706 )
2014
25
Transfer RNA and syndromic sideroblastic anemia. ( 25359985 )
2014
26
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. ( 24430573 )
2014
27
Screening for SF3B1 mutations is a useful tool to differentiate between acquired clonal and non-clonal sideroblastic anemia. ( 25330446 )
2014
28
A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia. ( 24624355 )
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
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). ( 25193871 )
2014
31
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
32
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). ( 22983749 )
2013
33
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. ( 23935018 )
2013
34
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. ( 23918765 )
2013
35
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). ( 23553769 )
2013
36
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. ( 24323989 )
2013
37
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. ( 24166784 )
2013
38
Sideroblastic anemia secondary to zinc toxicity. ( 24032127 )
2013
39
Pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 24003969 )
2013
40
Pyrazinamide-induced sideroblastic anemia. ( 21818765 )
2012
41
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
42
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. ( 22504945 )
2012
43
X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation. ( 22398176 )
2012
44
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. ( 21393332 )
2011
45
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. ( 21252495 )
2011
46
Severe isoniazid related sideroblastic anemia. ( 22184524 )
2011
47
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. ( 21800356 )
2011
48
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. ( 21309041 )
2011
49
Hereditary sideroblastic anemia: pathophysiology and gene mutations. ( 20848343 )
2010
50
Coenzyme Q is effective on anemia in a patient with sideroblastic anemia and mitochondrial myopathy. ( 21051567 )
2010

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:

id 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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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