ARSA
MCID: ATS210
MIFTS: 23

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 59
Congenital Sideroblastic Anemia 59
Hereditary Sideroblastic Anemia 73
Arsa 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive sideroblastic anemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA260305
ICD10 via Orphanet 34 D64.0
UMLS 73 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). Affiliated tissues include bone and b cells.

Related Diseases for Autosomal Recessive Sideroblastic Anemia

Diseases in the Sideroblastic Anemia family:

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

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 12.5
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 11.2
11 mucopolysaccharidosis, type vi 11.2
12 lysosomal storage disease 11.2
13 dementia 11.2
14 polyneuropathy 11.2
15 anemia, sideroblastic, and spinocerebellar ataxia 11.2
16 krabbe disease 11.1
17 tay-sachs disease 11.1
18 ichthyosis 11.1
19 gaucher's disease 11.1
20 sphingolipidosis 11.1
21 gangliosidosis gm1 11.1
22 sneddon syndrome 11.1
23 choroideremia 11.1
24 mucopolysaccharidosis, type ii 11.1
25 autosomal recessive disease 11.1
26 inclusion-cell disease 11.1
27 central nervous system cancer 11.1
28 lipid storage disease 11.1
29 inherited metabolic disorder 10.9
30 sideroblastic anemia 10.8
31 deficiency anemia 10.3
32 hematopoietic stem cell transplantation 10.1
33 retinitis pigmentosa 1 10.0
34 aceruloplasminemia 10.0
35 al-raqad syndrome 10.0
36 benign mesothelioma 10.0
37 malignant pleural mesothelioma 10.0
38 myelodysplastic syndrome 10.0
39 thalassemia 10.0
40 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

Search Clinical Trials , 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:

41
Bone, B Cells

Publications for Autosomal Recessive Sideroblastic Anemia

Articles related to Autosomal Recessive Sideroblastic Anemia:

(show all 14)
# Title Authors Year
1
Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia. ( 30214775 )
2018
2
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
3
Congenital sideroblastic anemia in a female. ( 30040160 )
2018
4
Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 30098397 )
2018
5
Delayed diagnosis of congenital sideroblastic anemia. ( 30502842 )
2018
6
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. ( 25985931 )
2015
7
Hereditary sideroblastic anemia: pathophysiology and gene mutations. ( 20848343 )
2010
8
[Hereditary sideroblastic anemia: a rare diagnosis]. ( 15217771 )
2004
9
[Vitamin B6-sensitive hereditary sideroblastic anemia]. ( 14724775 )
2004
10
Multiple mechanisms for hereditary sideroblastic anemia. ( 11929048 )
2002
11
Hereditary sideroblastic anemia. ( 2010494 )
1991
12
Hereditary sideroblastic anemia with associated platelet abnormalities. ( 2816925 )
1989
13
Tissue iron distribution and isoferritin profile in a patient with hereditary sideroblastic anemia. ( 7136465 )
1982
14
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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