SIDBA3
MCID: ANM032
MIFTS: 25

Anemia, Sideroblastic, 3, Pyridoxine-Refractory (SIDBA3)

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

Aliases & Classifications for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

MalaCards integrated aliases for Anemia, Sideroblastic, 3, Pyridoxine-Refractory:

Name: Anemia, Sideroblastic, 3, Pyridoxine-Refractory 57 75
Sideroblastic Anemia 3, Pyridoxine-Refractory 29 6
Sidba3 57 75
Adult-Onset Autosomal Recessive Sideroblastic Anemia 59
Glrx5-Related Sideroblastic Anemia 59

Characteristics:

Orphanet epidemiological data:

59
adult-onset autosomal recessive sideroblastic anemia
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in mid-adulthood
anemia is not responsive to pyridoxine supplementation
anemia may be responsive to iron chelation treatment
two unrelated men have been reported (last curated march 2016)


HPO:

32
anemia, sideroblastic, 3, pyridoxine-refractory:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616860
Orphanet 59 ORPHA255132
ICD10 via Orphanet 34 D64.0
UMLS via Orphanet 74 C2673914
MeSH 44 D000756

Summaries for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

UniProtKB/Swiss-Prot : 75 Anemia, sideroblastic, 3, pyridoxine-refractory: A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. 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. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive.

MalaCards based summary : Anemia, Sideroblastic, 3, Pyridoxine-Refractory, also known as sideroblastic anemia 3, pyridoxine-refractory, is related to anemia, sideroblastic, 2, pyridoxine-refractory and sideroblastic anemia. An important gene associated with Anemia, Sideroblastic, 3, Pyridoxine-Refractory is GLRX5 (Glutaredoxin 5). Affiliated tissues include bone and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

OMIM : 57 Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit (summary by Liu et al., 2014). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751). (616860)

Related Diseases for Anemia, Sideroblastic, 3, 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, 3, Pyridoxine-Refractory via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, 2, pyridoxine-refractory 9.8 GLRX5 SLC25A38
2 sideroblastic anemia 9.7 GLRX5 SLC25A38

Symptoms & Phenotypes for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Endocrine Features:
type ii diabetes mellitus

Skin Nails Hair Skin:
jaundice

Abdomen Liver:
hepatomegaly
cirrhosis (1 patient)
hepatic iron accumulation

Hematology:
anemia
anisocytosis
microcytosis
hypochromia
ringed sideroblasts seen on bone marrow aspirate

Laboratory Abnormalities:
increased serum ferritin


Clinical features from OMIM:

616860

Human phenotypes related to Anemia, Sideroblastic, 3, Pyridoxine-Refractory:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 type ii diabetes mellitus 32 HP:0005978
4 anemia 32 HP:0001903
5 cirrhosis 32 occasional (7.5%) HP:0001394
6 jaundice 32 HP:0000952
7 increased serum ferritin 32 HP:0003281
8 hepatosplenomegaly 32 HP:0001433
9 conjugated hyperbilirubinemia 32 HP:0002908
10 elevated hepatic iron concentration 32 HP:0012465
11 anisocytosis 32 HP:0011273
12 decreased mean corpuscular volume 32 HP:0025066
13 elevated hepatic transaminase 32 HP:0002910
14 erythroid hyperplasia 32 HP:0012132

GenomeRNAi Phenotypes related to Anemia, Sideroblastic, 3, 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, 3, Pyridoxine-Refractory

Search Clinical Trials , NIH Clinical Center for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

Genetic Tests for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

Genetic tests related to Anemia, Sideroblastic, 3, Pyridoxine-Refractory:

# Genetic test Affiliating Genes
1 Sideroblastic Anemia 3, Pyridoxine-Refractory 29 GLRX5

Anatomical Context for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

MalaCards organs/tissues related to Anemia, Sideroblastic, 3, Pyridoxine-Refractory:

41
Bone, Bone Marrow

Publications for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

Variations for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

UniProtKB/Swiss-Prot genetic disease variations for Anemia, Sideroblastic, 3, Pyridoxine-Refractory:

75
# Symbol AA change Variation ID SNP ID
1 GLRX5 p.Lys101Gln VAR_074550 rs869312752
2 GLRX5 p.Leu148Ser VAR_074551 rs765487627

ClinVar genetic disease variations for Anemia, Sideroblastic, 3, Pyridoxine-Refractory:

6 (show all 18)
# 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
13 GLRX5 NM_016417.2(GLRX5): c.301A> C (p.Lys101Gln) single nucleotide variant Pathogenic rs869312752 GRCh38 Chromosome 14, 95543952: 95543952
14 GLRX5 NM_016417.2(GLRX5): c.301A> C (p.Lys101Gln) single nucleotide variant Pathogenic rs869312752 GRCh37 Chromosome 14, 96010289: 96010289
15 GLRX5 NM_016417.2(GLRX5): c.443T> C (p.Leu148Ser) single nucleotide variant Pathogenic rs765487627 GRCh38 Chromosome 14, 95544094: 95544094
16 GLRX5 NM_016417.2(GLRX5): c.443T> C (p.Leu148Ser) single nucleotide variant Pathogenic rs765487627 GRCh37 Chromosome 14, 96010431: 96010431
17 SLC25A38 NM_017875.4(SLC25A38): c.70-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 3, 39430984: 39430984
18 SLC25A38 NM_017875.4(SLC25A38): c.70-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 39389493: 39389493

Expression for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

Search GEO for disease gene expression data for Anemia, Sideroblastic, 3, Pyridoxine-Refractory.

Pathways for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

GO Terms for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

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