MCID: SDR003
MIFTS: 39

Sideroblastic Anemia malady

Categories: Rare diseases, Blood diseases, Metabolic diseases

Aliases & Classifications for Sideroblastic Anemia

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Aliases & Descriptions for Sideroblastic Anemia:

Name: Sideroblastic Anemia 11 48 13 68
Anemia Sideroblastic 11 48 27 50
 
Anemia, Hypochromic with Iron Loading 11
Anemia, Sideroblastic 39

Classifications:



External Ids:

Disease Ontology11 DOID:8955
ICD1030 D64.3
ICD9CM32 285.0
MeSH39 D000756
NCIt45 C36078

Summaries for Sideroblastic Anemia

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NIH Rare Diseases:48 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 anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 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 is Glycine, serine and threonine metabolism. Affiliated tissues include bone, bone marrow and liver.

Disease Ontology:11 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

Wikipedia:71 Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces... more...

Related Diseases for Sideroblastic Anemia

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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 64)
idRelated DiseaseScoreTop Affiliating Genes
1anemia, sideroblastic, pyridoxine-refractory, autosomal recessive32.9GLRX5, SLC25A38
2myopathy, lactic acidosis, and sideroblastic anemia 212.4
3mitochondrial myopathy and sideroblastic anemia 112.4
4sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay12.3
5myopathy, lactic acidosis, and sideroblastic anemia 312.2
6hydrops, lactic acidosis, and sideroblastic anemia12.2
7autosomal dominant sideroblastic anemia12.1
8pyridoxine-responsive sideroblastic anemia12.1
9anemia, sideroblastic, x-linked12.1
10acquired idiopathic sideroblastic anemia12.1
11myopathy, lactic acidosis, and sideroblastic anemia12.1
12sideroblastic anemia pyridoxine-responsive autosomal recessive12.0
13autosomal recessive sideroblastic anemia12.0
14sideroblastic anemia acquired11.9
15adult-onset autosomal recessive sideroblastic anemia11.9
16anemia, sideroblastic, with ataxia11.9
17pearson syndrome11.6
18anemia, sideroblastic, 3, pyridoxine-refractory11.0
19anemia, hypochromic microcytic, with iron overload 210.9
20myopathy10.3
21corneal dystrophy, fuchs endothelial, 210.3PUS1, YARS2
22leukemia10.2
23lactic acidosis10.2
24ataxia10.1
25hemochromatosis10.1
26atransferrinemia10.1ABCB7, ALAS2
27diffuse leptomeningeal melanocytosis10.0HSPA9, SLC25A38
28myelodysplastic syndrome10.0
29acute leukemia10.0
30multiple myeloma10.0
31thalassemia10.0
32refractory anemia10.0
33congenital fiber-type disproportion9.9MT-ATP6, PUS1, YARS2
34myelofibrosis9.9
35thrombocytosis9.9
36hairy cell leukemia9.9
37pancreatitis9.9
38thalassemia major9.9
39wheat allergy9.8MT-ATP6, PUS1, YARS2
40scalp dermatosis9.8ALAS1, ALAS2
41myoclonic epilepsy associated with ragged-red fibers9.8LARS2, MT-ATP6
42pemphigus vulgaris9.7ALAS2, GLRX5, PUS1, SLC25A38
43systemic lupus erythematosus9.7
44hepatocellular carcinoma9.7
45sickle cell anemia9.7
46adenine phosphoribosyltransferase deficiency9.7
47kearns-sayre syndrome9.7
48hematopoietic stem cell transplantation9.7
49hemolytic anemia9.7
50hepatitis9.7

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


Aplastic AnemiaOsteoporosis
Deficiency AnemiaChronic Kidney Failure
Ischemic Heart DiseaseNeutropenia
Familial Atrial FibrillationHeart Disease
Iron Deficiency AnemiaProtein-Energy Malnutrition
Acute CystitisHypothyroidism
Active Peptic Ulcer Disease

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



Diseases related to sideroblastic anemia

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 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Deferoxamineapproved, investigationalPhase 24570-51-92973
Synonyms:
DF B
DFO
DFOA
DFOM
Deferoxamide B
Deferoxamin
Deferoxamina
 
Deferoxamine B
Deferoxaminum
Deferrioxamine
Deferrioxamine B
Deferrioxamine b
Desferrioxamine
Desferrioxamine B
Déferoxamine
N-Benzoylferrioxamine B
2
IronapprovedPhase 211237439-89-623925
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
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
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
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
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
3
Deferasiroxapproved, investigationalPhase 289201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
4Trace ElementsPhase 25802
5MicronutrientsPhase 25802
6Iron Chelating AgentsPhase 2222
7Chelating AgentsPhase 21365
8Liver ExtractsPhase 23868

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron OverloadCompletedNCT00600938Phase 2
2GDF 15 in Sickle Cell Disease and Hereditary SpherocytosisUnknown statusNCT01201135
3Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
4Efficacy 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

Search NIH Clinical Center for Sideroblastic Anemia


Cochrane evidence based reviews: anemia, sideroblastic

Genetic Tests for Sideroblastic Anemia

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Genetic tests related to Sideroblastic Anemia:

id Genetic test Affiliating Genes
1 Sideroblastic Anemia27

Anatomical Context for Sideroblastic Anemia

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MalaCards organs/tissues related to Sideroblastic Anemia:

36
Bone, Bone marrow, Liver, Myeloid, B cells, T cells, Spleen

Publications for Sideroblastic Anemia

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Articles related to Sideroblastic Anemia:

(show top 50)    (show all 280)
idTitleAuthorsYear
1
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. (26821380)
2016
2
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. (26862056)
2016
3
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. (27488349)
2016
4
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. (27197761)
2016
5
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2. (27247955)
2016
6
Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia. (27038157)
2016
7
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. (27102574)
2016
8
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. (25985931)
2015
9
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. (26537577)
2015
10
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. (26491070)
2015
11
Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia. (25330540)
2014
12
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. (25342667)
2014
13
A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia. (24624355)
2014
14
Transfer RNA and syndromic sideroblastic anemia. (25359985)
2014
15
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
16
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
17
Effect of 5-aminolevulinic acid on erythropoiesis: A preclinical in vitro characterization for the treatment of congenital sideroblastic anemia. (25450364)
2014
18
Sideroblastic anemia: diagnosis and management. (25064706)
2014
19
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). (25193871)
2014
20
Screening for SF3B1 mutations is a useful tool to differentiate between acquired clonal and non-clonal sideroblastic anemia. (25330446)
2014
21
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. (24430573)
2014
22
Pathophysiology and genetic mutations in congenital sideroblastic anemia. (24003969)
2013
23
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. (23918765)
2013
24
Sideroblastic anemia secondary to zinc toxicity. (24032127)
2013
25
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). (22983749)
2013
26
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. (24166784)
2013
27
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. (23935018)
2013
28
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). (23553769)
2013
29
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. (24323989)
2013
30
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (22504945)
2012
31
X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation. (22398176)
2012
32
Pyrazinamide-induced sideroblastic anemia. (21818765)
2012
33
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
34
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. (21800356)
2011
35
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. (21393332)
2011
36
Severe isoniazid related sideroblastic anemia. (22184524)
2011
37
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. (21309041)
2011
38
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. (21252495)
2011
39
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (19731322)
2010
40
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. (20364084)
2010
41
Congenital sideroblastic anemia treated as thalassemia major. (20956913)
2010
42
Hereditary sideroblastic anemia: pathophysiology and gene mutations. (20848343)
2010
43
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. (20598274)
2010
44
Coenzyme Q is effective on anemia in a patient with sideroblastic anemia and mitochondrial myopathy. (21051567)
2010
45
Same pathway, different gene: a second gene in the heme biosynthesis pathway causes inherited sideroblastic anemia. (19912262)
2010
46
Mitochondrial iron metabolism and sideroblastic anemia. (19907149)
2009
47
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. (19786205)
2009
48
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. (19412178)
2009
49
Congenital sideroblastic anemia: a report of two cases. (19679982)
2009
50
Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH. (18698088)
2008

Variations for Sideroblastic Anemia

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Expression for genes affiliated with Sideroblastic Anemia

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Search GEO for disease gene expression data for Sideroblastic Anemia.

Pathways for genes affiliated with Sideroblastic Anemia

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6ALAS1, ALAS2

GO Terms for genes affiliated with Sideroblastic Anemia

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.6ABCB7, ALAS2, MT-ATP6, SLC25A38
2mitochondrial matrixGO:00057598.1ALAS1, ALAS2, GLRX5, LARS2, PUS1, TRNT1
3mitochondrionGO:00057396.4ABCB7, ALAS1, ALAS2, GLRX5, HSPA9, LARS2

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

idNameGO IDScoreTop Affiliating Genes
1cellular iron ion homeostasisGO:000687910.4ABCB7, ALAS2
2protoporphyrinogen IX biosynthetic processGO:000678210.0ALAS1, ALAS2
3hemopoiesisGO:003009710.0GLRX5, HSPA9
4erythrocyte differentiationGO:00302189.8ALAS2, HSPA9, SLC25A38
5heme biosynthetic processGO:00067839.7ALAS1, ALAS2, SLC25A38
6tRNA aminoacylation for protein translationGO:00064189.3LARS2, YARS2

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

idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:000387010.3ALAS1, ALAS2
2pyridoxal phosphate bindingGO:003017010.0ALAS1, ALAS2
3tRNA bindingGO:00000499.8TRNT1, YARS2
4ATP bindingGO:00055248.6ABCB7, HSPA9, LARS2, TRNT1, YARS2

Sources for Sideroblastic Anemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet