MCID: ANM033
MIFTS: 21

Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Categories: Genetic diseases, Metabolic diseases, Blood 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 75
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 75 29 13 6 40
Sidba2 57 75
Anemia, Sideroblastic, Type 2, Pyridoxine-Refractory 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
onset in infancy


HPO:

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


Classifications:



External Ids:

OMIM 57 205950
MeSH 44 D000756
SNOMED-CT via HPO 69 258211005 165397008 271737000

Summaries for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

UniProtKB/Swiss-Prot : 75 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 anemia and increased serum ferritin

Description from OMIM: 205950

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

Diseases in the Anemia, Sideroblastic, 2, Pyridoxine-Refractory family:

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

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 9.2 GLRX5 SLC25A38
2 sideroblastic anemia 9.0 GLRX5 SLC25A38

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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
anemia (not responsive to pyridoxine supplementation)
microcytosis
hypochromia
ringed sideroblasts on bone marrow aspirate

Laboratory Abnormalities:
increased serum ferritin


Clinical features from OMIM:

205950

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

32
# Description HPO Frequency HPO Source Accession
1 anemia 32 HP:0001903
2 increased serum ferritin 32 HP:0003281
3 decreased mean corpuscular volume 32 HP:0025066

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 GLRX5 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

Variations for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

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

75
# 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

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A38 NM_017875.3(SLC25A38): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs121918330 GRCh37 Chromosome 3, 39433004: 39433004
2 SLC25A38 NM_017875.3(SLC25A38): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs121918330 GRCh38 Chromosome 3, 39391513: 39391513
3 SLC25A38 NM_017875.3(SLC25A38): c.324_325delCT (p.Tyr109Leufs) deletion Pathogenic rs869320719 GRCh37 Chromosome 3, 39432979: 39432980
4 SLC25A38 NM_017875.3(SLC25A38): c.324_325delCT (p.Tyr109Leufs) deletion Pathogenic rs869320719 GRCh38 Chromosome 3, 39391488: 39391489
5 SLC25A38 NM_017875.3(SLC25A38): c.560G> C (p.Arg187Pro) single nucleotide variant Pathogenic rs121918331 GRCh37 Chromosome 3, 39433447: 39433447
6 SLC25A38 NM_017875.3(SLC25A38): c.560G> C (p.Arg187Pro) single nucleotide variant Pathogenic rs121918331 GRCh38 Chromosome 3, 39391956: 39391956
7 SLC25A38 NM_017875.3(SLC25A38): c.277-1G> A single nucleotide variant Pathogenic rs869312029 GRCh37 Chromosome 3, 39432931: 39432931
8 SLC25A38 NM_017875.3(SLC25A38): c.277-1G> A single nucleotide variant Pathogenic rs869312029 GRCh38 Chromosome 3, 39391440: 39391440
9 SLC25A38 NM_017875.3(SLC25A38): c.790A> T (p.Lys264Ter) single nucleotide variant Pathogenic rs121918332 GRCh37 Chromosome 3, 39436065: 39436065
10 SLC25A38 NM_017875.3(SLC25A38): c.790A> T (p.Lys264Ter) single nucleotide variant Pathogenic rs121918332 GRCh38 Chromosome 3, 39394574: 39394574
11 GLRX5 NM_016417.2(GLRX5): c.294A> G (p.Gln98=) single nucleotide variant Pathogenic rs121908584 GRCh37 Chromosome 14, 96001720: 96001720
12 GLRX5 NM_016417.2(GLRX5): c.294A> G (p.Gln98=) single nucleotide variant Pathogenic rs121908584 GRCh38 Chromosome 14, 95535383: 95535383

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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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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