ARSA
MCID: ATS210
MIFTS: 25

Autosomal Recessive Sideroblastic Anemia (ARSA)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Sideroblastic Anemia

MalaCards integrated aliases for Autosomal Recessive Sideroblastic Anemia:

Name: Autosomal Recessive Sideroblastic Anemia 60
Congenital Sideroblastic Anemia 60
Hereditary Sideroblastic Anemia 74
Arsa 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive sideroblastic anemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 D64.0
Orphanet 60 ORPHA260305
UMLS 74 C0221018

Summaries for Autosomal Recessive Sideroblastic Anemia

MalaCards based summary : Autosomal Recessive Sideroblastic Anemia, also known as congenital sideroblastic anemia, is related to metachromatic leukodystrophy and leukodystrophy. An important gene associated with Autosomal Recessive Sideroblastic Anemia is HSPA9 (Heat Shock Protein Family A (Hsp70) Member 9). The drugs Iron and Anti-Infective Agents have been mentioned in the context of this disorder.

Related Diseases for Autosomal Recessive Sideroblastic Anemia

Diseases in the Sideroblastic Anemia family:

Anemia, Sideroblastic, 4 Anemia, Sideroblastic, 1
Autosomal Dominant Sideroblastic Anemia 4 Autosomal Recessive Sideroblastic Anemia

Diseases related to Autosomal Recessive Sideroblastic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 12.3
2 leukodystrophy 11.7
3 anemia, sideroblastic, 1 11.4
4 metachromatic leukodystrophy, adult form 11.4
5 anemia, sideroblastic, 3, pyridoxine-refractory 11.3
6 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.3
7 multiple sulfatase deficiency 11.3
8 metachromatic leukodystrophy, late infantile form 11.3
9 metachromatic leukodystrophy, juvenile form 11.3
10 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.3
11 anemia, sideroblastic, and spinocerebellar ataxia 11.2
12 mucopolysaccharidosis, type vi 11.2
13 lysosomal storage disease 11.2
14 dementia 11.2
15 polyneuropathy 11.2
16 krabbe disease 11.2
17 tay-sachs disease 11.2
18 autosomal recessive disease 11.2
19 mucolipidosis 11.2
20 ichthyosis 11.2
21 gaucher's disease 11.2
22 sphingolipidosis 11.2
23 dyggve-melchior-clausen disease 11.1
24 gm1-gangliosidosis, type i 11.1
25 mucolipidosis iii alpha/beta 11.1
26 choroideremia 11.1
27 mucopolysaccharidosis, type ii 11.1
28 inclusion-cell disease 11.1
29 gm1 gangliosidosis 11.1
30 central nervous system cancer 11.1
31 lipid storage disease 11.1
32 inherited metabolic disorder 10.9
33 sideroblastic anemia 10.8
34 deficiency anemia 10.4
35 hematopoietic stem cell transplantation 10.2
36 retinitis pigmentosa 1 10.0
37 aceruloplasminemia 10.0
38 benign mesothelioma 10.0
39 malignant pleural mesothelioma 10.0
40 dysphagia 10.0
41 myelodysplastic syndrome 10.0
42 thalassemia 10.0
43 hemosiderosis 10.0

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



Diseases related to Autosomal Recessive Sideroblastic Anemia

Symptoms & Phenotypes for Autosomal Recessive Sideroblastic Anemia

Drugs & Therapeutics for Autosomal Recessive Sideroblastic Anemia

Drugs for Autosomal Recessive Sideroblastic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4,Not Applicable 7439-89-6, 15438-31-0 23925 27284
2 Anti-Infective Agents Phase 4
3 Iron Supplement Phase 4
4 Lactoferrin Phase 4
5 ferric gluconate Not Applicable
6 Micronutrients Not Applicable
7 Ferric Compounds Not Applicable
8 Trace Elements Not Applicable
9 Nutrients Not Applicable
10 Hematinics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bovine Lactoferrin Versus Ferrous Sulphate In The Treatment Of Iron Deficiency Anemia During Pregnancy Recruiting NCT03202615 Phase 4 F (ferrous sulphate)
2 Comparing the Efficacy of Different Iron Formulations: Sucrosomal Ferric Pyrophosphate, SunActive®Fe and Intravenous Ferric Gluconate Completed NCT03771092 Not Applicable
3 Detection Of β-thalassemia Carriers In Assiut Not yet recruiting NCT03822585 Not Applicable
4 Red Cell Distribution Width Index Versus Red Cell Distribution Width as Discriminating Guide for Iron Deficiency Anaemia and Beta Thalassemia Trait . Not yet recruiting NCT03868306

Search NIH Clinical Center for Autosomal Recessive Sideroblastic Anemia

Genetic Tests for Autosomal Recessive Sideroblastic Anemia

Anatomical Context for Autosomal Recessive Sideroblastic Anemia

Publications for Autosomal Recessive Sideroblastic Anemia

Articles related to Autosomal Recessive Sideroblastic Anemia:

(show all 15)
# Title Authors Year
1
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia. ( 30660387 )
2019
2
Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia. ( 30912988 )
2019
3
Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia. ( 30214775 )
2018
4
Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. ( 30006447 )
2018
5
Congenital sideroblastic anemia in a female. ( 30040160 )
2018
6
Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 30098397 )
2018
7
Delayed diagnosis of congenital sideroblastic anemia. ( 30502842 )
2018
8
Hereditary sideroblastic anemia: pathophysiology and gene mutations. ( 20848343 )
2010
9
[Hereditary sideroblastic anemia: a rare diagnosis]. ( 15217771 )
2004
10
[Vitamin B6-sensitive hereditary sideroblastic anemia]. ( 14724775 )
2004
11
Multiple mechanisms for hereditary sideroblastic anemia. ( 11929048 )
2002
12
Hereditary sideroblastic anemia. ( 2010494 )
1991
13
Hereditary sideroblastic anemia with associated platelet abnormalities. ( 2816925 )
1989
14
Tissue iron distribution and isoferritin profile in a patient with hereditary sideroblastic anemia. ( 7136465 )
1982
15
Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family. ( 4871209 )
1968

Variations for Autosomal Recessive Sideroblastic Anemia

Expression for Autosomal Recessive Sideroblastic Anemia

Search GEO for disease gene expression data for Autosomal Recessive Sideroblastic Anemia.

Pathways for Autosomal Recessive Sideroblastic Anemia

GO Terms for Autosomal Recessive Sideroblastic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 8.62 HSPA9 SLC25A38

Sources for Autosomal Recessive Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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