ARSA
MCID: ATS210
MIFTS: 26

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 58 6
Congenital Sideroblastic Anemia 58
Hereditary Sideroblastic Anemia 71
Arsa 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive sideroblastic anemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D64.0
Orphanet 58 ORPHA260305
UMLS 71 C0221018

Summaries for Autosomal Recessive Sideroblastic Anemia

MalaCards based summary : Autosomal Recessive Sideroblastic Anemia, also known as congenital sideroblastic anemia, is related to autosomal recessive disease and sideroblastic anemia. An important gene associated with Autosomal Recessive Sideroblastic Anemia is HSPA9 (Heat Shock Protein Family A (Hsp70) Member 9). The drug Busulfan has been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 31.0 HSPA9 ARSA
2 sideroblastic anemia 30.4 SLC25A38 HSPA9
3 metachromatic leukodystrophy 12.7
4 anemia, sideroblastic, 1 11.9
5 leukodystrophy 11.8
6 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.7
7 anemia, sideroblastic, and spinocerebellar ataxia 11.7
8 lysosomal storage disease 11.6
9 polyneuropathy 11.6
10 demyelinating disease 11.5
11 anemia, sideroblastic, 3, pyridoxine-refractory 11.5
12 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.5
13 metachromatic leukodystrophy, adult form 11.5
14 metachromatic leukodystrophy, late infantile form 11.4
15 metachromatic leukodystrophy, juvenile form 11.4
16 multiple sulfatase deficiency 11.4
17 dementia 11.4
18 mucopolysaccharidosis, type vi 11.2
19 ichthyosis 11.2
20 dystonia 12 11.2
21 sneddon syndrome 11.2
22 gaucher disease, type i 11.2
23 krabbe disease 11.2
24 sandhoff disease 11.2
25 tay-sachs disease 11.2
26 fabry disease 11.2
27 mucopolysaccharidosis, type ii 11.2
28 frontotemporal dementia 11.2
29 scheie syndrome 11.2
30 mucolipidosis 11.2
31 hydrocephalus 11.2
32 gaucher's disease 11.2
33 sphingolipidosis 11.2
34 dysostosis 11.2
35 cerebral palsy 11.2
36 central nervous system cancer 11.2
37 dystonia 11.2
38 aspartylglucosaminuria 11.0
39 gm1-gangliosidosis, type i 11.0
40 mannosidosis, alpha b, lysosomal 11.0
41 mucopolysaccharidosis, type iiia 11.0
42 mucopolysaccharidosis, type iva 11.0
43 mucopolysaccharidosis, type vii 11.0
44 combined saposin deficiency 11.0
45 spinocerebellar ataxia, autosomal recessive 14 11.0
46 mucopolysaccharidosis-plus syndrome 11.0
47 x-linked chondrodysplasia punctata 1 11.0
48 mucopolysaccharidosis iii 11.0
49 mucopolysaccharidosis iv 11.0
50 gm2 gangliosidosis 11.0

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

GenomeRNAi Phenotypes related to Autosomal Recessive Sideroblastic Anemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.1 HSPA9
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.1 HSPA9
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.1 ARSA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.1 ARSA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.1 HSPA9
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.1 ARSA

Drugs & Therapeutics for Autosomal Recessive Sideroblastic Anemia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2 55-98-1 2478

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label, Non-randomized Trial to Evaluate the Safety and Efficacy of a Single Infusion of OTL-200 in Patients With Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD). Recruiting NCT04283227 Phase 3
2 A Phase I/II, Open Labeled, Monocentric Study of Direct Intracranial Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human ARSA cDNA to Children With Metachromatic Leukodystrophy. Unknown status NCT01801709 Phase 1, Phase 2
3 and Safety of METAZYM (Recombinant Human Arylsulfatase A or rhASA) for the Treatment of Patients With Late Infantile MLD Who Had Previously Hematopoietic Stem Cell Transplantation Completed NCT01303146 Phase 2 rhARSA
4 A Phase I/II Clinical Trial of Lentiviral Hematopoietic Stem Cell Gene Therapy for Treatment of Developed Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
5 A Phase I/II Clinical Trial of Hematopoietic Stem Cell Gene Therapy for the Treatment of Metachromatic Leukodystrophy Active, not recruiting NCT01560182 Phase 1, Phase 2
6 A Single Arm, Open Label, Clinical Study of Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Containing Human ARSA cDNA (OTL-200), for the Treatment of Early Onset Metachromatic Leukodystrophy (MLD) Active, not recruiting NCT03392987 Phase 2
7 Study of the Natural History of Cerebral White Matter Involvement in Metachromatic Leukodystrophy, Using High-field MRI and Diffusion Tensor Imaging Completed NCT01325025
8 Gene Therapy for Metachromatic Leukodystrophy (MLD) Using a Self-inactivating Lentiviral Vector (TYF-ARSA) Recruiting NCT03725670

Search NIH Clinical Center for Autosomal Recessive Sideroblastic Anemia

Genetic Tests for Autosomal Recessive Sideroblastic Anemia

Anatomical Context for Autosomal Recessive Sideroblastic Anemia

MalaCards organs/tissues related to Autosomal Recessive Sideroblastic Anemia:

40
Bone Marrow, Bone, Liver

Publications for Autosomal Recessive Sideroblastic Anemia

Articles related to Autosomal Recessive Sideroblastic Anemia:

(show all 25)
# Title Authors PMID Year
1
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. 6
26491070 2015
2
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. 6
19412178 2009
3
Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family. 6
3653362 1987
4
Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing. 61
26637696 2015
5
Over-expression of mitochondrial ferritin affects the JAK2/STAT5 pathway in K562 cells and causes mitochondrial iron accumulation. 61
21712541 2011
6
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. 61
21393332 2011
7
Hereditary sideroblastic anemia: pathophysiology and gene mutations. 61
20848343 2010
8
Iron burden and liver fibrosis decrease during a long-term phlebotomy program and iron chelating treatment after bone marrow transplantation. 61
16540426 2006
9
[Hereditary sideroblastic anemia: a rare diagnosis]. 61
15217771 2004
10
[Vitamin B6-sensitive hereditary sideroblastic anemia]. 61
14724775 2004
11
Multiple mechanisms for hereditary sideroblastic anemia. 61
11929048 2002
12
Genetics of iron storage and hemochromatosis. 61
11259339 2001
13
[Molecular diagnosis of hereditary sideroblastic anemia and model mouse of the disease]. 61
11020974 2000
14
[Hereditary sideroblastic anemia: causative gene and gene therapy]. 61
11601245 1999
15
[Hereditary sideroblastic anemia in 3 Canary Island families]. 61
1776117 1991
16
Hereditary sideroblastic anemia. 61
2010494 1991
17
[Pyridoxine-sensitive hereditary sideroblastic anemia]. 61
1772191 1991
18
Hereditary sideroblastic anemia with associated platelet abnormalities. 61
2816925 1989
19
Erythroid colony formation and effect of hemin in vitro in hereditary sideroblastic anemias. 61
3360067 1988
20
[Iron chelate treatment of hereditary sideroblastic anemia complicated by hemochromatosis]. 61
6625846 1983
21
[Hemochromatotic cirrhosis complicating pyridoxine-sensitive hereditary sideroblastic anemia. Case report]. 61
6614712 1983
22
Tissue iron distribution and isoferritin profile in a patient with hereditary sideroblastic anemia. 61
7136465 1982
23
Multiple enzymatic defects in mitochondria in hematological cells of patients with primary sideroblastic anemia. 61
6249845 1980
24
[A case of hereditary sideroblastic anemia (author's transl)]. 61
702810 1978
25
Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family. 61
4871209 1968

Variations for Autosomal Recessive Sideroblastic Anemia

ClinVar genetic disease variations for Autosomal Recessive Sideroblastic Anemia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARSA NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)SNV Uncertain significance 634567 rs1569078754 22:51064614-51064614 22:50626186-50626186

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 SLC25A38 HSPA9

Sources for Autosomal Recessive Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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