MCID: ATS210
MIFTS: 20

Autosomal Recessive Sideroblastic Anemia

Categories: Blood diseases, Rare diseases, Genetic diseases, Immune diseases, Metabolic 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 sideroblastic anemia and metachromatic leukodystrophy. An important gene associated with Autosomal Recessive Sideroblastic Anemia is SLC25A38 (Solute Carrier Family 25 Member 38).

Related Diseases for Autosomal Recessive Sideroblastic Anemia

Diseases in the Sideroblastic Anemia family:

Anemia, Sideroblastic, 4 Anemia, Sideroblastic, 1
Autosomal Dominant Sideroblastic Anemia 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 33)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia 29.4 HSPA9 SLC25A38
2 metachromatic leukodystrophy 12.4
3 pyridoxine-refractory autosomal recessive sideroblastic anemia 12.1
4 leukodystrophy 11.6
5 anemia, sideroblastic, 1 11.2
6 multiple sulfatase deficiency 11.2
7 anemia, sideroblastic, 3, pyridoxine-refractory 11.2
8 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.1
9 mucopolysaccharidosis type vi 11.1
10 dementia 11.1
11 polyneuropathy 11.1
12 gaucher's disease 11.1
13 lysosomal storage disease 11.1
14 anemia, sideroblastic, and spinocerebellar ataxia 11.0
15 krabbe disease 11.0
16 metachromatic leukodystrophy, juvenile form 11.0
17 tay-sachs disease 11.0
18 sphingolipidosis 11.0
19 metachromatic leukodystrophy, adult form 11.0
20 metachromatic leukodystrophy, late infantile form 11.0
21 autosomal recessive disease 10.9
22 inclusion-cell disease 10.9
23 choroideremia 10.9
24 mucopolysaccharidosis, type ii 10.9
25 lipid storage disease 10.9
26 pseudoarylsulfatase a deficiency 10.9
27 inherited metabolic disorder 10.8
28 aceruloplasminemia 9.9
29 ataxia-oculomotor apraxia 3 9.9
30 thalassemia 9.8
31 hemosiderosis 9.8
32 myelodysplastic syndrome 9.8
33 hematopoietic stem cell transplantation 9.8

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

Publications for Autosomal Recessive Sideroblastic Anemia

Articles related to Autosomal Recessive Sideroblastic Anemia:

# Title Authors Year
1
Hereditary sideroblastic anemia: pathophysiology and gene mutations. ( 20848343 )
2010
2
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. ( 19786205 )
2009
3
[Hereditary sideroblastic anemia: a rare diagnosis]. ( 15217771 )
2004
4
[Vitamin B6-sensitive hereditary sideroblastic anemia]. ( 14724775 )
2004
5
Multiple mechanisms for hereditary sideroblastic anemia. ( 11929048 )
2002
6
Hereditary sideroblastic anemia. ( 2010494 )
1991
7
Hereditary sideroblastic anemia with associated platelet abnormalities. ( 2816925 )
1989
8
Tissue iron distribution and isoferritin profile in a patient with hereditary sideroblastic anemia. ( 7136465 )
1982
9
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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