MCID: SDR003
MIFTS: 41

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 10 45 12 65
Anemia Sideroblastic 10 45 47
 
Anemia, Hypochromic with Iron Loading 10
Anemia, Sideroblastic 36

Classifications:



External Ids:

Disease Ontology10 DOID:8955
ICD1027 D64.3
ICD9CM29 285.0
MeSH36 D000756
NCIt42 C36078
UMLS65 C0002896

Summaries for Sideroblastic Anemia

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NIH Rare Diseases:45 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 liver.

Disease Ontology:10 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

Wikipedia:68 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 65)
idRelated DiseaseScoreTop Affiliating Genes
1anemia, sideroblastic, pyridoxine-refractory, autosomal recessive32.9GLRX5, SLC25A38
2x-linked sideroblastic anemia with ataxia12.5
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 delay12.2
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
16congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome12.0
17pearson syndrome11.5
18severe congenital hypochromic anemia with ringed sideroblasts11.0
19myopathy10.4
20corneal dystrophy, fuchs endothelial, 210.4PUS1, YARS2
21leukemia10.4
22lactic acidosis10.3
23ataxia10.3
24hemochromatosis10.2
25myelodysplastic syndrome10.1
26acute leukemia10.1
27marantic endocarditis10.1ALAS1, ALAS2
28multiple myeloma10.1
29thalassemia10.1
30myeloma10.1
31refractory anemia10.1
32myelofibrosis10.0
33thrombocytosis10.0
34hairy cell leukemia10.0
35pancreatitis10.0
36facial dermatosis10.0ALAS1, ALAS2
37cutaneous porphyria10.0ALAS1, ALAS2
38walker-warburg syndrome10.0ABCB7, FXN
39congenital myopathy9.9MT-ATP6, PUS1, YARS2
40olfactory nerve neoplasm9.9MT-ATP6, PUS1, YARS2
41coproporphyria9.9ALAS1, ALAS2
42atransferrinemia9.8ABCB7, ALAS2, FXN
43systemic lupus erythematosus9.8
44hepatocellular carcinoma9.8
45sickle cell anemia9.8
46adenine phosphoribosyltransferase deficiency9.8
47hematopoietic stem cell transplantation9.8
48hemolytic anemia9.8
49hepatitis9.8
50thrombocytopenia9.8

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


Aplastic AnemiaDeficiency Anemia
HypothyroidismIron Deficiency Anemia
Protein-Energy MalnutritionActive Peptic Ulcer Disease
Acute CystitisChronic Kidney Failure
Familial Atrial FibrillationHeart Disease
Ischemic Heart DiseaseNeutropenia
Osteoporosis

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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 210217439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
2
Deferoxamineapproved, investigationalPhase 24470-51-92973
Synonyms:
DF B
DFO
DFOA
DFOM
Deferoxamide B
Deferoxamin
Deferoxamina
Deferoxamine
Deferoxamine B
Deferoxamine Hydrochloride
 
Deferoxamine Mesylate
Deferoxamine mesylate
Deferoxaminum
Deferrioxamine
Deferrioxamine B
Deferrioxamine b
Desferal
Desferrioxamine
Desferrioxamine B
Déferoxamine
N-Benzoylferrioxamine B
3
Deferasiroxapproved, investigationalPhase 286201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
4Liver ExtractsPhase 23572
5Iron Chelating AgentsPhase 2178
6Chelating AgentsPhase 2667

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

Search NIH Clinical Center for Sideroblastic Anemia


Cochrane evidence based reviews: anemia, sideroblastic

Genetic Tests for Sideroblastic Anemia

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Anatomical Context for Sideroblastic Anemia

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MalaCards organs/tissues related to Sideroblastic Anemia:

33
Bone, Bone marrow, Liver, B cells, Prostate, Heart, Endothelial

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 279)
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
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. (26537577)
2015
4
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. (26491070)
2015
5
Transfer RNA and syndromic sideroblastic anemia. (25359985)
2014
6
Pathophysiology and genetic mutations in congenital sideroblastic anemia. (24003969)
2013
7
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. (23935018)
2013
8
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (22504945)
2012
9
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. (21800356)
2011
10
Sideroblastic anemia after bariatric surgery. (16432847)
2006
11
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. (15772074)
2005
12
Multiple mechanisms for hereditary sideroblastic anemia. (11929048)
2002
13
Reversible sideroblastic anemia associated with the tetracycline analogue COL-3. (11279658)
2001
14
A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. (10577279)
1999
15
Sideroblastic anemia: a mitochondrial disorder. (9256823)
1997
16
Molecular genetics of "X-linked" sideroblastic anemia. (7847329)
1995
17
Pyridoxine-responsive sideroblastic anemia in four children. (7626392)
1995
18
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. (7705839)
1995
19
Zinc-induced sideroblastic anemia: report of a case, review of the literature, and description of the hematologic syndrome. (8172183)
1994
20
Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. (1517489)
1992
21
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. (1415186)
1992
22
Primary acquired sideroblastic anemia and myelodysplastic syndrome from a geriatric point of view. (1877285)
1991
23
Sideroblastic anemia: death from iron overload. (2010495)
1991
24
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. (1671320)
1991
25
Risk of leukemic transformation in two types of acquired idiopathic sideroblastic anemia. (2323645)
1990
26
Copper deficiency and sideroblastic anemia associated with zinc ingestion. (3407636)
1988
27
5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia. (3414687)
1988
28
Elevated erythrocyte adenosine deaminase activity in a patient with primary acquired sideroblastic anemia. (3348207)
1988
29
Refractory anemia with ringed sideroblasts (primary acquired sideroblastic anemia). (2854694)
1988
30
Sideroblastic anemia. (3573277)
1987
31
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
32
Chromosome abnormalities in acquired idiopathic sideroblastic anemia with subsequent leukemic transformation. (3455846)
1986
33
Acquired idiopathic sideroblastic anemia: a new chromosomal abnormality. (6871838)
1983
34
Spinal epidural extramedullary hematopoiesis with cord compression in a patient with refractory sideroblastic anemia. Case report. (7097337)
1982
35
Sideroblastic anemia associated with penicillamine therapy. (7305583)
1981
36
Multiple enzymatic defects in mitochondria in hematological cells of patients with primary sideroblastic anemia. (6249845)
1980
37
Idiopathic sideroblastic anemia: presence of sideroblastic changes in the erythropoietic precursors cultured from peripheral blood. (90619)
1979
38
Prognostic value of platelet counts in idiopathic sideroblastic anemia. (630123)
1978
39
Primary sideroblastic anemia masked by bleeding. (79531)
1978
40
Idiopathic acquired sideroblastic anemia terminating in acute myelofibrosis: case report and review of leterature. (318917)
1977
41
Cytogenetic studies in sideroblastic anemia. (1247962)
1976
42
Sideroblasts, siderocytes, and sideroblastic anemia. (1088923)
1975
43
Sideroblastic anemia treated with immunosuppressive therapy. (4600293)
1974
44
Delta-aminolevulinic acid synthetase activity in erythroblasts of patients with sideroblastic anemia. (5561051)
1971
45
Evidence for abnormal red cell population in refractory sideroblastic anemia. (5443368)
1970
46
Thrombocytopenia and sideroblastic anemia with pyrazinoic acid amide (pyrazinamide) therapy. (5434719)
1970
47
Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs. (6054596)
1967
48
Electron microscopic observation on a case of sideroblastic anemia. (5594578)
1967
49
REFRACTORY SIDEROBLASTIC ANEMIA. CLINICAL AND HEMATOLOGIC STUDY OF TEN CASES. (14233824)
1964
50

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

idNameGO IDScoreTop Affiliating Genes
1porphyrin-containing compound metabolic processGO:00067789.7ALAS1, ALAS2
2positive regulation of succinate dehydrogenase activityGO:19042319.5FTMT, FXN
3cellular iron ion homeostasisGO:00068798.5ALAS2, FTMT, FXN

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

idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:00038709.8ALAS1, ALAS2
2pyridoxal phosphate bindingGO:00301709.7ALAS1, ALAS2

Sources for Sideroblastic Anemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet