SIDBA2
MCID: ANM033
MIFTS: 25

Anemia, Sideroblastic, 2, Pyridoxine-Refractory (SIDBA2)

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

Aliases & Classifications for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

MalaCards integrated aliases for Anemia, Sideroblastic, 2, Pyridoxine-Refractory:

Name: Anemia, Sideroblastic, 2, Pyridoxine-Refractory 57 74
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 74 29 13 6
Sidba2 57 74
Anemia, Sideroblastic, Type 2, Pyridoxine-Refractory 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
genetic heterogeneity


HPO:

32
anemia, sideroblastic, 2, pyridoxine-refractory:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:



External Ids:

MeSH 44 D000756

Summaries for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

UniProtKB/Swiss-Prot : 74 Anemia, sideroblastic, 2, pyridoxine-refractory: A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.

MalaCards based summary : Anemia, Sideroblastic, 2, Pyridoxine-Refractory, also known as anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, is related to anemia, sideroblastic, 3, pyridoxine-refractory and sideroblastic anemia. An important gene associated with Anemia, Sideroblastic, 2, Pyridoxine-Refractory is SLC25A38 (Solute Carrier Family 25 Member 38). Affiliated tissues include bone and bone marrow, and related phenotypes are increased serum ferritin and decreased mean corpuscular volume

More information from OMIM: 205950 PS300751

Related Diseases for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Diseases in the Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 family:

Anemia, Sideroblastic, 2, Pyridoxine-Refractory Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3

Diseases related to Anemia, Sideroblastic, 2, Pyridoxine-Refractory via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, 3, pyridoxine-refractory 9.4 SLC25A38 GLRX5
2 sideroblastic anemia 9.2 SLC25A38 GLRX5

Symptoms & Phenotypes for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Human phenotypes related to Anemia, Sideroblastic, 2, Pyridoxine-Refractory:

32
# Description HPO Frequency HPO Source Accession
1 increased serum ferritin 32 HP:0003281
2 decreased mean corpuscular volume 32 HP:0025066
3 hypochromia 32 HP:0032231

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
increased serum ferritin

Hematology:
hypochromia
anemia (not responsive to pyridoxine supplementation)
microcytosis
ringed sideroblasts on bone marrow aspirate

Clinical features from OMIM:

205950

GenomeRNAi Phenotypes related to Anemia, Sideroblastic, 2, Pyridoxine-Refractory according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.62 GLRX5 SLC25A38

Drugs & Therapeutics for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Search Clinical Trials , NIH Clinical Center for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Genetic Tests for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Genetic tests related to Anemia, Sideroblastic, 2, Pyridoxine-Refractory:

# Genetic test Affiliating Genes
1 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 29 SLC25A38

Anatomical Context for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

MalaCards organs/tissues related to Anemia, Sideroblastic, 2, Pyridoxine-Refractory:

41
Bone, Bone Marrow

Publications for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Articles related to Anemia, Sideroblastic, 2, Pyridoxine-Refractory:

# Title Authors PMID Year
1
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. 8 71
19412178 2009
2
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. 71
20364084 2010
3
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. 71
17485548 2007
4
Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. 8
7912287 1994
5
A study of a female with congenital sideroblastic anemia. 8
7039309 1982

Variations for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

ClinVar genetic disease variations for Anemia, Sideroblastic, 2, Pyridoxine-Refractory:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A38 NM_017875.4(SLC25A38): c.70-2A> C single nucleotide variant Pathogenic 3:39430984-39430984 3:39389493-39389493
2 SLC25A38 NM_017875.4(SLC25A38): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs121918330 3:39433004-39433004 3:39391513-39391513
3 SLC25A38 NM_017875.4(SLC25A38): c.277-1G> A single nucleotide variant Pathogenic rs869312029 3:39432931-39432931 3:39391440-39391440
4 SLC25A38 NM_017875.4(SLC25A38): c.790A> T (p.Lys264Ter) single nucleotide variant Pathogenic rs121918332 3:39436065-39436065 3:39394574-39394574
5 GLRX5 NM_016417.3(GLRX5): c.294A> G (p.Gln98=) single nucleotide variant Pathogenic rs121908584 14:96001720-96001720 14:95535383-95535383
6 SLC25A38 NM_017875.4(SLC25A38): c.320_321CT[2] (p.Tyr109fs) short repeat Likely pathogenic rs869320719 3:39432979-39432980 3:39391488-39391489
7 SLC25A38 NM_017875.4(SLC25A38): c.560G> C (p.Arg187Pro) single nucleotide variant Likely pathogenic rs121918331 3:39433447-39433447 3:39391956-39391956
8 SLC25A38 NM_017875.4(SLC25A38): c.625G> C (p.Asp209His) single nucleotide variant Likely pathogenic 3:39433512-39433512 3:39392021-39392021
9 SLC25A38 NM_017875.4(SLC25A38): c.400C> T (p.Arg134Cys) single nucleotide variant Uncertain significance 3:39433055-39433055 3:39391564-39391564

UniProtKB/Swiss-Prot genetic disease variations for Anemia, Sideroblastic, 2, Pyridoxine-Refractory:

74
# Symbol AA change Variation ID SNP ID
1 SLC25A38 p.Gly130Glu VAR_058093 rs762562272
2 SLC25A38 p.Arg134His VAR_058094
3 SLC25A38 p.Arg187Pro VAR_058095 rs121918331
4 SLC25A38 p.Asp209His VAR_058096 rs146864395

Expression for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Search GEO for disease gene expression data for Anemia, Sideroblastic, 2, Pyridoxine-Refractory.

Pathways for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

GO Terms for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Sources for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

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73 UMLS via Orphanet
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