SIDBA2
MCID: ANM033
MIFTS: 22

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 58 76
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 76 30 13 6
Sidba2 58 76
Anemia, Sideroblastic, Type 2, Pyridoxine-Refractory 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
genetic heterogeneity


HPO:

33
anemia, sideroblastic, 2, pyridoxine-refractory:
Onset and clinical course infantile onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 205950
MeSH 45 D000756
SNOMED-CT via HPO 70 165397008 258211005 271737000

Summaries for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

UniProtKB/Swiss-Prot : 76 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 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2
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 9.6 GLRX5 SLC25A38
2 sideroblastic anemia 9.5 GLRX5 SLC25A38

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

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

33
# Description HPO Frequency HPO Source Accession
1 anemia 33 HP:0001903
2 increased serum ferritin 33 HP:0003281
3 decreased mean corpuscular volume 33 HP:0025066

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
increased serum ferritin

Hematology:
anemia (not responsive to pyridoxine supplementation)
microcytosis
hypochromia
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:

27
# 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 30

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

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

42
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:

76
# 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 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A38 NM_017875.4(SLC25A38): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs121918330 GRCh37 Chromosome 3, 39433004: 39433004
2 SLC25A38 NM_017875.4(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_017875.4(SLC25A38): c.560G> C (p.Arg187Pro) single nucleotide variant Pathogenic rs121918331 GRCh37 Chromosome 3, 39433447: 39433447
6 SLC25A38 NM_017875.4(SLC25A38): c.560G> C (p.Arg187Pro) single nucleotide variant Pathogenic rs121918331 GRCh38 Chromosome 3, 39391956: 39391956
7 SLC25A38 NM_017875.4(SLC25A38): c.277-1G> A single nucleotide variant Pathogenic rs869312029 GRCh37 Chromosome 3, 39432931: 39432931
8 SLC25A38 NM_017875.4(SLC25A38): c.277-1G> A single nucleotide variant Pathogenic rs869312029 GRCh38 Chromosome 3, 39391440: 39391440
9 SLC25A38 NM_017875.4(SLC25A38): c.790A> T (p.Lys264Ter) single nucleotide variant Pathogenic rs121918332 GRCh37 Chromosome 3, 39436065: 39436065
10 SLC25A38 NM_017875.4(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
13 SLC25A38 NM_017875.4(SLC25A38): c.70-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 3, 39430984: 39430984
14 SLC25A38 NM_017875.4(SLC25A38): c.70-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 39389493: 39389493

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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