MCID: SDR003
MIFTS: 37

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 mitochondrial myopathy and sideroblastic anemia 1. 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 241)
idRelated DiseaseScoreTop Affiliating Genes
1anemia, sideroblastic, pyridoxine-refractory, autosomal recessive33.4GLRX5, SLC25A38
2mitochondrial myopathy and sideroblastic anemia 112.8
3x-linked sideroblastic anemia with ataxia12.8
4myopathy, lactic acidosis, and sideroblastic anemia 212.7
5sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay12.6
6myopathy, lactic acidosis, and sideroblastic anemia 312.6
7autosomal dominant sideroblastic anemia12.5
8sideroblastic anemia pyridoxine-responsive autosomal recessive12.5
9pyridoxine-responsive sideroblastic anemia12.5
10autosomal recessive sideroblastic anemia12.5
11myopathy, lactic acidosis, and sideroblastic anemia12.4
12sideroblastic anemia acquired12.4
13adult-onset autosomal recessive sideroblastic anemia12.4
14acquired idiopathic sideroblastic anemia12.4
15anemia, sideroblastic, x-linked12.4
16congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome12.4
17pearson syndrome11.9
18severe congenital hypochromic anemia with ringed sideroblasts11.4
19breast cancer10.3
20lymphoma10.3
21corneal dystrophy, fuchs endothelial, 210.3PUS1, YARS2
22esophagitis10.3
23ischemia10.3
24infertility10.3
25thyroiditis10.3
26endotheliitis10.3
27neuroblastoma10.2
28obesity10.2
29endometrial cancer10.2
30pulmonary hypertension10.2
31arthritis10.2
32atherosclerosis10.2
33brain injury10.2
34cholangiocarcinoma10.2
35dilated cardiomyopathy10.2
36leukemia10.2
37ulcerative colitis10.2
38sleep apnea10.2
39colitis10.2
40endocarditis10.2
41prostatitis10.2
42ovarian cancer10.2
43granular cell tumor10.2
44dermatitis10.2
45contact dermatitis10.2
46adenocarcinoma10.2
47myelitis10.2
48adenoma10.2
49drug dependence10.2
50transverse myelitis10.2

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, Prostate, Breast, Endothelial, Lung

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 273)
idTitleAuthorsYear
1
Impact of Hyponatremia Correction on the Risk for 30-Day Readmission and Death in Patients with Congestive Heart Failure. (27019042)
2016
2
Do Adults with High Functioning Autism or Asperger Syndrome Differ in Empathy and Emotion Recognition? (26883645)
2016
3
Whole-exome sequencing identified the genetic origin of a mucinous neoplasm in a mature cystic teratoma. (27114374)
2016
4
Imported chikungunya cases in an area newly colonised by Aedes albopictus: mathematical assessment of the best public health strategy. (27172607)
2016
5
STAT1 is phosphorylated and downregulated by the oncogenic tyrosine kinase NPM-ALK in ALK-positive anaplastic large-cell lymphoma. (25921060)
2015
6
Corneal ectasia 6.5 months after small-incision lenticule extraction. (25953471)
2015
7
Opsoclonus-ataxia syndrome in an adolescent: an acute otitis media complication. (25303825)
2014
8
Adiponectin gene (ADIPOQ) polymorphisms correlate with the progression of nephropathy in Taiwanese male patients with type 2 diabetes. (24894086)
2014
9
Impaired circadian rhythm of blood pressure in normotensive patients with rheumatic mitral valve stenosis. (24399183)
2014
10
Local targeted therapy of liver metastasis from colon cancer by galactosylated liposome encapsulated with doxorubicin. (24040096)
2013
11
Airborne contact dermatitis to drugs. (22445186)
2013
12
Crystal structures of S6K1 provide insights into the regulation mechanism of S6K1 by the hydrophobic motif. (23731517)
2013
13
Curcumin suppresses soluble tau dimers and corrects molecular chaperone, synaptic, and behavioral deficits in aged human tau transgenic mice. (23264626)
2013
14
Nutrition in calcium nephrolithiasis. (23634702)
2013
15
Tin oxide nanowires suppress herpes simplex virus-1 entry and cell-to-cell membrane fusion. (23110193)
2012
16
Elevated levels of serum IL-5 are associated with an increased likelihood of major depressive disorder. (22230487)
2012
17
Focal muscle vibration in the treatment of upper limb spasticity: a pilot randomized controlled trial in patients with chronic stroke. (22507444)
2012
18
Norrie disease: extraocular clinical manifestations in 56 patients. (22786811)
2012
19
Overexpression of the DEC1 protein induces senescence in vitro and is related to better survival in esophageal squamous cell carcinoma. (22844531)
2012
20
A case of Down syndrome with a posterior urethral valve. (23326062)
2012
21
Anti-tumor necrosis factor-I+ treatment with infliximab for disseminated granuloma annulare. (20515080)
2010
22
Molecular basis of the interactions of the Nogo-66 receptor and its homolog NgR2 with myelin-associated glycoprotein: development of NgROMNI-Fc, a novel antagonist of CNS myelin inhibition. (19420245)
2009
23
Acute mediastinitis secondary to venous perforation by a peripherally inserted central venous catheter. (19201204)
2009
24
70-kDa peroxisomal membrane protein related protein (P70R/ABCD4) localizes to endoplasmic reticulum not peroxisomes, and NH2-terminal hydrophobic property determines the subcellular localization of ABC subfamily D proteins. (19010322)
2009
25
Prognostic significance of HER2 gene amplification according to stage of breast cancer. (18583876)
2008
26
Identification of dysregulated genes in lymphocytes from children with Down syndrome. (18356936)
2008
27
Constitutive and ligand-induced nuclear localization of oxytocin receptor. (17367504)
2007
28
Argatroban, bivalirudin, and lepirudin do not decrease clot propagation and strength as effectively as heparin-activated antithrombin in vitro. (16730571)
2006
29
Nitinol stents in the treatment of benign proximal tracheal stenosis or tracheomalacia. (16359154)
2006
30
The antiprogesterone Org 31710 inhibits human blastocyst-endometrial interactions in vitro. (15831300)
2005
31
Cytokine profiles in adult mink infected with Aleutian mink disease parvovirus. (12805443)
2003
32
p16INK4a expression in actinic keratosis and Bowen's disease. (14632806)
2003
33
Longitudinal analysis of intermediate outcomes in adolescent hemodialysis patients. (12920629)
2003
34
Structure of the Bcr-Abl oncoprotein oligomerization domain. (11780146)
2002
35
Human cytosolic iron regulatory protein 1 contains a linear iron-sulfur cluster. (11592901)
2001
36
Cold agglutinin disease in a patient with uterine sarcoma. (11093691)
2000
37
Ultrastructure of phospholipid mixtures reconstituted with surfactant proteins B and D. (10226076)
1999
38
Activity of O6-methylguanine DNA methyltransferase in mononuclear blood cells of formaldehyde-exposed medical students. (10207610)
1999
39
Autoradiographic evidence that zona glomerulosa and capsular vessels of the human adrenal cortex are provided with different subtypes of adrenomedullin receptors. (9864066)
1998
40
Telomere associations in desmoplastic infantile ganglioglioma. (8956861)
1996
41
Isolated adrenocorticotropin deficiency as a rare cause of hypoglycaemia in children. Further studies and report of an additional case. (8582717)
1995
42
Trandolapril. A review of its pharmacodynamic and pharmacokinetic properties, and therapeutic use in essential hypertension. (7525196)
1994
43
Role of Helicobacter pylori in gastritis and duodenitis in man. (1442334)
1992
44
Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val-->Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia. (2399911)
1990
45
Erythema infectiosum (fifth disease). (2538215)
1989
46
Solitary benign schwannoma in the psoas muscle. (3560343)
1987
47
Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases. (7103414)
1982
48
The effects of drugs in the treatment of necrotizing ulcerative gingivitis. (13142849)
1954
49
Chemotherapy in Acute Middle-ear Disease: "Masked Mastoiditis". (20783791)
1941
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