MCID: SDR003
MIFTS: 48

Sideroblastic Anemia malady

Summaries for Sideroblastic Anemia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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: Sideroblastic Anemia, also known as anemia sideroblastic, is related to x-linked sideroblastic anemia and myopathy. An important gene associated with Sideroblastic Anemia is ALAS2 (aminolevulinate, delta-, synthase 2), and among its related pathways are Heme Biosynthesis and Metabolism. The compounds ferric ammonium citrate and formyl-coa have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid.

Disease Ontology:8 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

Wikipedia:63 Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces... more...

Aliases & Classifications for Sideroblastic Anemia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH
See all sources

Aliases & Descriptions:

sideroblastic anemia 8 42 10 60
anemia sideroblastic 8 42 44
anemia, hypochromic with iron loading 8
sideroblastic anemia nos 8
sideroblastic anaemia 8


External Ids:

Disease Ontology8 DOID:8955
NCIt39 C36078
ICD9CM27 285.0
MeSH34 D000756

Related Diseases for Sideroblastic Anemia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Sideroblastic Anemia family:

Sideroblastic Anemia Acquired

Diseases related to Sideroblastic Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked sideroblastic anemia31.5ALAS2, ALAS1, ABCB7
2myopathy30.9COX5A, PUS1, FXN
3pyridoxine-responsive sideroblastic anemia30.9TFE3
4pyridoxine-refractory autosomal recessive sideroblastic anemia30.9SLC25A38, GLRX5
5deficiency anemia30.8ALAS2, COX5A, FECH, ABCB7
6lactic acidosis30.7PUS1, COX5A
7hemochromatosis30.6ACO1, FXN
8pearson syndrome30.5PUS1, TRMU, GLRX5, ABCB7, SLC25A38, ALAS2
9mitochondrial disorders30.3PUS1, SUCLA2
10erythropoietic protoporphyria30.1ALAS2, FECH
11cerebellar ataxia30.1FXN
12hepatitis30.1ABCB7
13majeed syndrome30.1ACO1, FXN, HSCB
14x-linked sideroblastic anemia with ataxia10.6
15leukemia10.6
16sideroblastic anemia and mitochondrial myopathy10.4
17myopathy, lactic acidosis, and sideroblastic anemia 210.4
18mitochondrial myopathy and sideroblastic anemia 110.4
19acute leukemia10.4
20sideroblastic anemia pyridoxine-responsive autosomal recessive10.4
21sideroblastic anemia with spinocerebellar ataxia10.3
22multiple myeloma10.3
23myeloma10.3
24sideroblastic anemia acquired10.3
25myopathy, lactic acidosis, and sideroblastic anemia 110.3
26acquired idiopathic sideroblastic anemia10.3
27thrombocytosis10.2
28hairy cell leukemia10.2
29myelofibrosis10.2
30myeloid leukemia10.2
31pancreatitis10.2
32thalassemia10.2
33anemia, sideroblastic, with ataxia10.2
34congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome10.2
35malignant histiocytosis10.1
36histiocytosis10.1
37lymphoid leukemia10.1
38acute myeloid leukemia10.1
39systemic lupus erythematosus10.1
40acute t cell leukemia10.1
41sickle cell anemia10.1
42splenic abscess10.1
43kearns-sayre syndrome10.1
44hypochromic anemia10.1
45iron deficiency anemia10.1
46autoimmune hemolytic anemia10.1
47infectious mononucleosis10.1
48chronic myeloid leukemia10.1
49metabolic acidosis10.1
50hepatitis a10.1

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



Diseases related to sideroblastic anemia

Clinical Features for Sideroblastic Anemia

About this section

Drugs & Therapeutics for Sideroblastic Anemia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Sideroblastic Anemia

Drug clinical trials:

Search ClinicalTrials for Sideroblastic Anemia

Search NIH Clinical Center for Sideroblastic Anemia

Search CenterWatch for Sideroblastic Anemia

Genetic Tests for Sideroblastic Anemia

About this section

Anatomical Context for Sideroblastic Anemia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Sideroblastic Anemia:

32
Bone marrow, Bone, Myeloid, Liver, T cells, Eye, Spleen, B cells

Animal Models for Sideroblastic Anemia or affiliated genes

About this section

Publications for Sideroblastic Anemia

About this section
Sources:
50PubMed
See all sources

Articles related to Sideroblastic Anemia:

(show top 50)    (show all 329)
idTitleAuthorsYear
1
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. (23935018)
2013
2
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. (23918765)
2013
3
A case of refractory anemia with ring sideroblasts and associated thrombocytosis. (23844433)
2013
4
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). (22983749)
2013
5
Refractory anemia with ring sideroblasts associated with marked thrombocytosis: case report and literature review. (22990561)
2012
6
Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis. (19903679)
2010
7
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (19731322)
2010
8
Refractory anemia with ringed sideroblasts: more than meets the eye. (20713854)
2010
9
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. (20364084)
2010
10
Congenital sideroblastic anemia treated as thalassemia major. (20956913)
2010
11
Identification of protein-coding and non-coding RNA expression profiles in CD34+ and in stromal cells in refractory anemia with ringed sideroblasts. (20633296)
2010
12
Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. (19692701)
2009
13
Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH. (18698088)
2008
14
DNA instability in low-risk myelodysplastic syndromes: refractory anemia with or without ring sideroblasts. (18430715)
2008
15
The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. (18398482)
2008
16
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. (17485548)
2007
17
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma. (16540354)
2006
18
High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis. (16990759)
2006
19
Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. (16670082)
2006
20
Sideroblastic anemia in 7 dogs (1996-2002). (15954546)
2005
21
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. (11050011)
2000
22
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. (11110715)
2000
23
Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. (10727444)
2000
24
Clonality analysis of refractory anemia with ring sideroblasts: simultaneous study of clonality and cytochemistry of bone marrow progenitors. (10049048)
1999
25
Trisomy 21 as the sole abnormality in a refractory anemia with ring sideroblasts. (10484988)
1999
26
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (10196363)
1999
27
Leg ulcers associated with sideroblastic anemia. (9873185)
1998
28
Pyridoxine-responsive sideroblastic anemia in four children. (7626392)
1995
29
Inversion of chromosome 16 and eosinophilia in refractory anemia with ring sideroblasts: report of a case. (8266919)
1993
30
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. (1415186)
1992
31
Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations. (1407387)
1992
32
Vitamin B6 deficiency on hemodialysis causing sideroblastic anemia. (1766516)
1991
33
Neutropenia and hypotension during treatment with recombinant human erythropoietin in refractory anemia with ring sideroblasts]. (2396173)
1990
34
Refractory anemia with ringed sideroblasts (primary acquired sideroblastic anemia). (2854694)
1988
35
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
36
Sideroblastic anemia associated with thrombocytosis and a chromosome 3 abnormality. (3458520)
1986
37
Acquired alteration in the expression of blood groups in a patient with sideroblastic anemia and chronic renal failure. (6229911)
1984
38
Acquired idiopathic sideroblastic anemia: a new chromosomal abnormality. (6871838)
1983
39
Tissue iron distribution and isoferritin profile in a patient with hereditary sideroblastic anemia. (7136465)
1982
40
Acute leukemia in idiopathic sideroblastic anemia: response to combination chemotherapy. (7059673)
1982
41
On the pathogenesis of acquired hypo-beta-lipoproteinemia. A case associated with sideroblastic anemia. (7102370)
1982
42
Sideroblastic anemia (a case report). (7263592)
1981
43
Erythremia with special reference to sideroblastic anemia. (6932166)
1980
44
Sideroblastic anemia: evaluation and prognosis. (7430682)
1980
45
Primary sideroblastic anemia masked by bleeding. (79531)
1978
46
Idiopathic acquired sideroblastic anemia terminating in acute myelofibrosis: case report and review of leterature. (318917)
1977
47
Sideroblastic anemia treated with immunosuppressive therapy. (4600293)
1974
48
Chromosome deletion (46, XY, 20q-) in sideroblastic anemia. (4443214)
1974
49
Heme and prophyrin synthesis in sideroblastic anemia. (6025495)
1967
50
Acquired sideroblastic anemia. A review. (5342764)
1967

Genetic Variations for Sideroblastic Anemia

About this section

Expression for genes affiliated with Sideroblastic Anemia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Sideroblastic Anemia

Search GEO for disease gene expression data for Sideroblastic Anemia.

Pathways for genes affiliated with Sideroblastic Anemia

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG
See all sources

Pathways related to Sideroblastic Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0ALAS2, ALAS1, FECH
2
Hide members
9.6ALAS2, ALAS1, SUCLA2, ACO1, FXN, ABCB7

Compounds for genes affiliated with Sideroblastic Anemia

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB
See all sources

Compounds related to Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate4410.3FTMT, FXN, ACO1
2formyl-coa44 2411.3ALAS2, ALAS1, FECH
3protoporphyrin ix44 11 2412.3FECH, ABCB7, FXN, ALAS2
4vitamin b64410.3FECH, ALAS1, ALAS2
5porphyrin4410.3ALAS1, FECH
6sulfur4410.3FTMT, FXN, ACO1
7pseudouridine44 2411.3PUS3, PUS1
8succinate4410.2COX5A, MT-CO1, FXN
9cholic acid44 28 11 2413.2MT-CO1, FECH, COX5A
10Coenzyme A11 2411.2SUCLA2, ALAS1, ALAS2
11porphobilinogen44 11 2412.2FECH, ALAS1
12deferoxamine44 1111.2ACO1, FXN, FTMT, FECH
135-aminolevulinic acid44 2411.2FECH, ACO1, ALAS1, ALAS2
14haem4410.2COX5A, FECH, ALAS1, ALAS2
15uridine44 11 2412.2PUS1, PUS3, COX5A
16nevirapine44 49 1112.2ABCB7, COX5A
17N-Formylmethionine1110.1MT-CO1, COX5A
18copper44 2411.1FTMT, MT-CO1, FECH, COX5A
19iron-sulfur4410.0FECH, FTMT, ABCB7, FXN, ACO1, ALAS2
20citrate449.9ACO1, MT-CO1, COX5A
21heme28 11 2411.7COX5A, FECH, MT-CO1, ABCB7, FXN, SUCLA2
22atp44 2810.6COX5A, APRT, MT-CO1, FTMT, ABCB7, FXN
23zinc44 2410.5FECH, ABCB7, FXN, ACO1, ALAS2
24oxygen44 2410.5COX5A, FECH, MT-CO1, FTMT, ABCB7, FXN
25iron44 2410.1ALAS2, COX5A, HSCB, SFXN4, FECH, MT-CO1

GO Terms for genes affiliated with Sideroblastic Anemia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Sideroblastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.8ALAS2, SLC25A38, ABCB7, FECH, COX5A
2mitochondrial matrixGO:0057599.3FECH, YARS2, FXN, SUCLA2, ALAS1, ALAS2
3mitochondrionGO:0057398.7ALAS2, HSCB, PUS1, YARS2, TRMU, FTMT

Biological processes related to Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of lyase activityGO:05134910.3FXN, FTMT
2tRNA pseudouridine synthesisGO:03111910.3PUS1, PUS3
3porphyrin-containing compound metabolic processGO:00677810.2FECH, ALAS1, ALAS2
4positive regulation of transferase activityGO:05134710.2FTMT, FXN
5erythrocyte differentiationGO:03021810.2ALAS2, SLC25A38, FECH
6iron ion homeostasisGO:05507210.1FECH, SFXN4
7positive regulation of oxidoreductase activityGO:05135310.1FXN, FTMT
8heme biosynthetic processGO:00678310.0ALAS2, ALAS1, SLC25A38, FXN, FECH
9cellular iron ion homeostasisGO:00687910.0FTMT, ABCB7, FXN, ACO1, ALAS2
10protoporphyrinogen IX biosynthetic processGO:0067829.9ALAS2, ALAS1
11small molecule metabolic processGO:0442819.4COX5A, FECH, APRT, ABCB7, FXN, SUCLA2

Molecular functions related to Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:00387010.3ALAS2, ALAS1
22 iron, 2 sulfur cluster bindingGO:05153710.2FXN, GLRX5, FECH
3iron-responsive element bindingGO:03035010.2ACO1, FECH
4ferroxidase activityGO:00432210.2FTMT, FXN
5pseudouridine synthase activityGO:00998210.2PUS1, PUS3
6ferrous iron bindingGO:00819810.1FXN, FECH
7ferric iron bindingGO:0081999.9FXN, FTMT

Products for genes affiliated with Sideroblastic Anemia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sideroblastic Anemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet