MCID: SDR003
MIFTS: 40

Sideroblastic Anemia malady

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Sideroblastic Anemia

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Aliases & Descriptions for Sideroblastic Anemia:

Name: Sideroblastic Anemia 11 46 13 66
Anemia Sideroblastic 11 46 25 48
 
Anemia, Hypochromic with Iron Loading 11
Anemia, Sideroblastic 37

Classifications:



External Ids:

Disease Ontology11 DOID:8955
ICD1028 D64.3
ICD9CM30 285.0
MeSH37 D000756
NCIt43 C36078

Summaries for Sideroblastic Anemia

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NIH Rare Diseases:46 Sideroblastic anemia is a heterogeneous group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. the iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. abnormal red blood cells called sideroblasts are found in the blood of people with these anemias. sideroblastic anemias are classified as hereditary, acquired, and reversible. last updated: 12/9/2009

MalaCards based summary: Sideroblastic Anemia, also known as anemia sideroblastic, is related to anemia, sideroblastic, pyridoxine-refractory, autosomal recessive and x-linked sideroblastic anemia with ataxia. An important gene associated with Sideroblastic Anemia is PUS1 (Pseudouridylate Synthase 1), and among its related pathways are Glycine, serine and threonine metabolism and Porphyrin and chlorophyll metabolism. Affiliated tissues include bone, bone marrow and myeloid.

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

Wikipedia:69 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 70)
idRelated DiseaseScoreTop Affiliating Genes
1anemia, sideroblastic, pyridoxine-refractory, autosomal recessive32.9GLRX5, SLC25A38
2x-linked sideroblastic anemia with ataxia12.4
3mitochondrial myopathy and sideroblastic anemia 112.4
4myopathy, lactic acidosis, and sideroblastic anemia 212.4
5sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay12.3
6pyridoxine-responsive sideroblastic anemia12.2
7acquired idiopathic sideroblastic anemia12.2
8myopathy, lactic acidosis, and sideroblastic anemia 312.2
9myopathy, lactic acidosis, and sideroblastic anemia12.2
10autosomal dominant sideroblastic anemia12.1
11sideroblastic anemia pyridoxine-responsive autosomal recessive12.1
12autosomal recessive sideroblastic anemia12.1
13sideroblastic anemia acquired12.0
14adult-onset autosomal recessive sideroblastic anemia12.0
15anemia, sideroblastic, x-linked12.0
16pearson syndrome11.5
17anemia, sideroblastic, with ataxia11.3
18anemia, hypochromic microcytic, with iron overload 211.0
19myopathy10.4
20corneal dystrophy, fuchs endothelial, 210.4PUS1, YARS2
21leukemia10.4
22lactic acidosis10.3
23y chromosome infertility10.3ALAS2, FECH
24ataxia10.3
25intestinal tuberculosis10.2ALAS2, FECH
26hemochromatosis10.2
27palmoplantar keratoderma, nagashima type10.2ALAS2, FECH
28typhus10.2ALAS2, GLRX5
29myelodysplastic syndrome10.1
30acute leukemia10.1
31multiple myeloma10.1
32thalassemia10.1
33myeloma10.1
34refractory anemia10.1
35atransferrinemia10.0ABCB7, ALAS2
36congenital fiber-type disproportion10.0MT-ATP6, PUS1, YARS2
37myelofibrosis10.0
38thrombocytosis10.0
39hairy cell leukemia10.0
40pancreatitis10.0
41thalassemia major10.0
42wheat allergy9.9MT-ATP6, PUS1, YARS2
43systemic lupus erythematosus9.8
44hepatocellular carcinoma9.8
45sickle cell anemia9.8
46adenine phosphoribosyltransferase deficiency9.8
47kearns-sayre syndrome9.8
48hematopoietic stem cell transplantation9.8
49hemolytic anemia9.8
50hepatitis9.8

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 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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronPhase 210807439-89-623925
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
2
DeferoxaminePhase 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
3
DeferasiroxPhase 287201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron OverloadCompletedNCT00600938Phase 2
2Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
3Efficacy 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
4GDF 15 in Sickle Cell Disease and Hereditary SpherocytosisNot yet recruitingNCT01201135

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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 Anemia25

Anatomical Context for Sideroblastic Anemia

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MalaCards organs/tissues related to Sideroblastic Anemia:

34
Bone, Bone marrow, Myeloid, Liver, B cells, T cells, Spleen

Animal Models for Sideroblastic Anemia or affiliated genes

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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
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. (25985931)
2015
4
Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia. (25330540)
2014
5
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. (25342667)
2014
6
Pathophysiology and genetic mutations in congenital sideroblastic anemia. (24003969)
2013
7
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. (23918765)
2013
8
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. (21800356)
2011
9
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. (21393332)
2011
10
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (19731322)
2010
11
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA). (17374500)
2007
12
Sideroblastic anemia after bariatric surgery. (16432847)
2006
13
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. (16735131)
2006
14
Hereditary sideroblastic anemia: a rare diagnosis]. (15217771)
2004
15
Case report of sideroblastic anemia caused by ingestion of coins. (11421292)
2001
16
An infant case of sideroblastic anemia that responded to oral pyridoxine]. (10496043)
1999
17
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. (9389715)
1997
18
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. (7705839)
1995
19
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. (7592563)
1995
20
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. (7560104)
1995
21
Sideroblastic anemia associated with multiple myeloma in Turner's syndrome. (1633353)
1992
22
Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. (1570328)
1992
23
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. (1301172)
1992
24
Primary acquired sideroblastic anemia and myelodysplastic syndrome from a geriatric point of view. (1877285)
1991
25
Sideroblastic anemia: death from iron overload. (2010495)
1991
26
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. (1671320)
1991
27
Concise review: genetic bases for sideroblastic anemia. (2024639)
1991
28
Risk of leukemic transformation in two types of acquired idiopathic sideroblastic anemia. (2323645)
1990
29
Copper deficiency and sideroblastic anemia associated with zinc ingestion. (3407636)
1988
30
Cytogenetic and cytochemical studies on progenitor cells of primary acquired sideroblastic anemia (PASA): involvement of multipotent myeloid stem cells in PASA clone and mosaicism with normal clone. (3663937)
1987
31
Chromosome abnormalities in acquired idiopathic sideroblastic anemia with subsequent leukemic transformation. (3455846)
1986
32
Spinal epidural extramedullary hematopoiesis with cord compression in a patient with refractory sideroblastic anemia. Case report. (7097337)
1982
33
On the pathogenesis of acquired hypo-beta-lipoproteinemia. A case associated with sideroblastic anemia. (7102370)
1982
34
Sideroblastic anemia associated with penicillamine therapy. (7305583)
1981
35
Sideroblastic anemia (a case report). (7263592)
1981
36
Idiopathic sideroblastic anemia: presence of sideroblastic changes in the erythropoietic precursors cultured from peripheral blood. (90619)
1979
37
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. (501502)
1979
38
Prognostic value of platelet counts in idiopathic sideroblastic anemia. (630123)
1978
39
Primary sideroblastic anemia masked by bleeding. (79531)
1978
40
Acquired hemoglobin H in refractor sideroblastic anemia. A preleukemic marker. (273389)
1978
41
A new chromosome abnormality in idiopathic sideroblastic anemia: 46,XY,del11q23. (752261)
1978
42
Idiopathic acquired sideroblastic anemia terminating in acute myelofibrosis: case report and review of leterature. (318917)
1977
43
Cytogenetic studies in sideroblastic anemia. (1247962)
1976
44
Pyridoxine responsive sideroblastic anemia. (4435927)
1974
45
Delta-aminolevulinic acid synthetase activity in erythroblasts of patients with sideroblastic anemia. (5561051)
1971
46
Sideroblastic anemia following congenital erythroid hypoplasia. (5094263)
1971
47
Evidence for abnormal red cell population in refractory sideroblastic anemia. (5443368)
1970
48
Thrombocytopenia and sideroblastic anemia with pyrazinoic acid amide (pyrazinamide) therapy. (5434719)
1970
49
Sideroblastic anemia. Erythroid depression following transfusion. (5652644)
1968
50
REFRACTORY SIDEROBLASTIC ANEMIA. CLINICAL AND HEMATOLOGIC STUDY OF TEN CASES. (14233824)
1964

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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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 matrixGO:00057597.7ALAS1, ALAS2, FECH, GLRX5, PUS1, TRNT1
2mitochondrial inner membraneGO:00057437.5ABCB7, ALAS2, FECH, MT-ATP6, MT-CO1, SLC25A38
3mitochondrionGO:00057396.3ABCB7, ALAS1, ALAS2, FECH, GLRX5, MT-CO1

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

idNameGO IDScoreTop Affiliating Genes
1erythrocyte differentiationGO:00302189.8ALAS2, SLC25A38
2cellular iron ion homeostasisGO:00068799.3ABCB7, ALAS2
3protoporphyrinogen IX biosynthetic processGO:00067829.2ALAS1, ALAS2
4heme biosynthetic processGO:00067838.4ALAS1, ALAS2, FECH, SLC25A38

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

idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:00038709.8ALAS1, ALAS2
22 iron, 2 sulfur cluster bindingGO:00515379.7FECH, GLRX5
3tRNA bindingGO:00000499.6TRNT1, YARS2
4pyridoxal phosphate bindingGO:00301709.3ALAS1, ALAS2

Sources for Sideroblastic Anemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet