MCID: ATS210
MIFTS: 30

Autosomal Recessive Sideroblastic Anemia

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 Iron Supplement have been mentioned in the context of this disorder. Affiliated tissues include bone, b cells and bone marrow.

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 50)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 12.5
2 leukodystrophy 11.7
3 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.6
4 anemia, sideroblastic, 1 11.4
5 metachromatic leukodystrophy, adult form 11.4
6 anemia, sideroblastic, 3, pyridoxine-refractory 11.4
7 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.4
8 multiple sulfatase deficiency 11.3
9 metachromatic leukodystrophy, late infantile form 11.3
10 metachromatic leukodystrophy, juvenile form 11.3
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 11.2
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 sneddon syndrome 11.1
24 dyggve-melchior-clausen disease 11.1
25 gm1-gangliosidosis, type i 11.1
26 mucolipidosis iii alpha/beta 11.1
27 choroideremia 11.1
28 mucopolysaccharidosis, type ii 11.1
29 inclusion-cell disease 11.1
30 gm1 gangliosidosis 11.1
31 central nervous system cancer 11.1
32 lipid storage disease 11.1
33 inherited metabolic disorder 10.9
34 sideroblastic anemia 10.8
35 deficiency anemia 10.6
36 headache associated with sexual activity 10.2
37 hematopoietic stem cell transplantation 10.1
38 retinitis pigmentosa 1 10.0
39 ataxia and polyneuropathy, adult-onset 10.0
40 aceruloplasminemia 10.0
41 al-raqad syndrome 10.0
42 benign mesothelioma 10.0
43 malignant pleural mesothelioma 10.0
44 dysphagia 10.0
45 anemia, sideroblastic, 4 10.0
46 anemia, sideroblastic, 2, pyridoxine-refractory 10.0
47 pearson marrow-pancreas syndrome 10.0
48 myelodysplastic syndrome 10.0
49 thalassemia 10.0
50 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 27284 23925
2 Iron Supplement Phase 4
3 Lactoferrin Phase 4
4 Anti-Infective Agents Phase 4
5 Hematinics Not Applicable
6 Trace Elements Not Applicable
7 ferric gluconate Not Applicable
8 Nutrients Not Applicable
9 Ferric Compounds Not Applicable
10 Micronutrients 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

MalaCards organs/tissues related to Autosomal Recessive Sideroblastic Anemia:

42
Bone, B Cells, Bone Marrow, Liver, Spleen, Pancreas

Publications for Autosomal Recessive Sideroblastic Anemia

Articles related to Autosomal Recessive Sideroblastic Anemia:

(show all 47)
# 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
Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia. ( 29139060 )
2018
5
Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. ( 29499877 )
2018
6
Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology. ( 29787825 )
2018
7
Five-aminolevulinic acid: New approach for congenital sideroblastic anemia. ( 29878633 )
2018
8
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
9
Congenital sideroblastic anemia in a female. ( 30040160 )
2018
10
Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 30098397 )
2018
11
Delayed diagnosis of congenital sideroblastic anemia. ( 30502842 )
2018
12
Congenital sideroblastic anemia of a Saudi child. ( 29213171 )
2017
13
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure. ( 28495927 )
2017
14
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation. ( 28772256 )
2017
15
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. ( 26821380 )
2016
16
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. ( 25985931 )
2015
17
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. ( 26491070 )
2015
18
Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. ( 23935018 )
2014
19
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). ( 25193871 )
2014
20
Effect of 5-aminolevulinic acid on erythropoiesis: a preclinical in vitro characterization for the treatment of congenital sideroblastic anemia. ( 25450364 )
2014
21
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). ( 22983749 )
2013
22
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). ( 23553769 )
2013
23
Pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 24003969 )
2013
24
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. ( 24323989 )
2013
25
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. ( 19731322 )
2010
26
Hereditary sideroblastic anemia: pathophysiology and gene mutations. ( 20848343 )
2010
27
Congenital sideroblastic anemia treated as thalassemia major. ( 20956913 )
2010
28
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. ( 19412178 )
2009
29
Congenital sideroblastic anemia: a report of two cases. ( 19679982 )
2009
30
Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH. ( 18698088 )
2008
31
Dental management of a child with congenital sideroblastic anemia: a case report. ( 17867397 )
2007
32
Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion. ( 16856911 )
2006
33
Multiple spleen and liver abscesses due to Yersinia enterocolitica septicemia in a child with congenital sideroblastic anemia. ( 16282898 )
2005
34
[Vitamin B6-sensitive hereditary sideroblastic anemia]. ( 14724775 )
2004
35
[Hereditary sideroblastic anemia: a rare diagnosis]. ( 15217771 )
2004
36
Nonmyeloablative allogeneic hematopoietic stem cell transplantation for congenital sideroblastic anemia. ( 12774059 )
2003
37
Multiple mechanisms for hereditary sideroblastic anemia. ( 11929048 )
2002
38
Congenital sideroblastic anemia. ( 10745341 )
1999
39
Congenital sideroblastic anemia successfully treated by allogeneic bone marrow transplantation. ( 1422494 )
1992
40
Hereditary sideroblastic anemia. ( 2010494 )
1991
41
Congenital sideroblastic anemia without clinical iron overload. A case report. ( 2290714 )
1990
42
Hereditary sideroblastic anemia with associated platelet abnormalities. ( 2816925 )
1989
43
Congenital sideroblastic anemia in a female. ( 3220548 )
1988
44
A study of a female with congenital sideroblastic anemia. ( 7039309 )
1982
45
Tissue iron distribution and isoferritin profile in a patient with hereditary sideroblastic anemia. ( 7136465 )
1982
46
Bone marrow delta-aminolaevulinate synthase deficiency in a female with congenital sideroblastic anemia. ( 7350930 )
1980
47
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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