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 72
Sideroblastic Anemia 3, Pyridoxine-Refractory 29 6
Sidba3 57 72
Adult-Onset Autosomal Recessive Sideroblastic Anemia 58
Glrx5-Related Sideroblastic Anemia 58

Characteristics:

Orphanet epidemiological data:

58
adult-onset autosomal recessive sideroblastic anemia
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
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:

31
anemia, sideroblastic, 3, pyridoxine-refractory:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM® 57 616860
OMIM Phenotypic Series 57 PS300751
MeSH 44 D000756
ICD10 via Orphanet 33 D64.0
UMLS via Orphanet 71 C2673914
Orphanet 58 ORPHA255132

Summaries for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

UniProtKB/Swiss-Prot : 72 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, is also known as sideroblastic anemia 3, pyridoxine-refractory. An important gene associated with Anemia, Sideroblastic, 3, Pyridoxine-Refractory is GLRX5 (Glutaredoxin 5). Affiliated tissues include bone marrow and bone, and related phenotypes are cirrhosis and splenomegaly

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) (Updated 20-May-2021)

Related Diseases for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

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

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cirrhosis 31 occasional (7.5%) HP:0001394
2 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 type ii diabetes mellitus 31 HP:0005978
5 anemia 31 HP:0001903
6 elevated hepatic transaminase 31 HP:0002910
7 jaundice 31 HP:0000952
8 hepatosplenomegaly 31 HP:0001433
9 conjugated hyperbilirubinemia 31 HP:0002908
10 elevated hepatic iron concentration 31 HP:0012465
11 anisocytosis 31 HP:0011273
12 decreased mean corpuscular volume 31 HP:0025066
13 erythroid hyperplasia 31 HP:0012132
14 increased circulating ferritin concentration 31 HP:0003281
15 hypochromia 31 HP:0032231

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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
hypochromia
microcytosis
ringed sideroblasts seen on bone marrow aspirate

Laboratory Abnormalities:
increased serum ferritin

Clinical features from OMIM®:

616860 (Updated 20-May-2021)

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:

40
Bone Marrow, Bone

Publications for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

Articles related to Anemia, Sideroblastic, 3, Pyridoxine-Refractory:

# Title Authors PMID Year
1
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia. 57 6
30660387 2019
2
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. 57 6
25342667 2014
3
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. 57 6
20364084 2010
4
The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. 6 57
17485548 2007
5
Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein. 6
26100117 2016
6
Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis. 57
16110529 2005
7
TLR-activated repression of Fe-S cluster biogenesis drives a metabolic shift and alters histone and tubulin acetylation. 61
29784770 2018

Variations for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLRX5 NM_016417.3(GLRX5):c.294A>G (p.Gln98=) SNV Pathogenic 1606 rs121908584 GRCh37: 14:96001720-96001720
GRCh38: 14:95535383-95535383
2 GLRX5 NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr) SNV Pathogenic 915891 GRCh37: 14:96001626-96001626
GRCh38: 14:95535289-95535289
3 GLRX5 NM_016417.3(GLRX5):c.383T>A (p.Met128Lys) SNV Pathogenic 915892 GRCh37: 14:96010371-96010371
GRCh38: 14:95544034-95544034
4 GLRX5 NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser) SNV Pathogenic 224511 rs765487627 GRCh37: 14:96010431-96010431
GRCh38: 14:95544094-95544094
5 GLRX5 NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln) SNV Pathogenic 224510 rs869312752 GRCh37: 14:96010289-96010289
GRCh38: 14:95543952-95543952
6 GLRX5 NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser) SNV Uncertain significance 1029602 GRCh37: 14:96010302-96010302
GRCh38: 14:95543965-95543965
7 GLRX5 NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala) SNV Uncertain significance 1029603 GRCh37: 14:96010310-96010310
GRCh38: 14:95543973-95543973

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

72
# Symbol AA change Variation ID SNP ID
1 GLRX5 p.Lys101Gln VAR_074550 rs869312752
2 GLRX5 p.Leu148Ser VAR_074551 rs765487627

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

Sources for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

3 CDC
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11 DGIdb
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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45 MESH via Orphanet
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49 NCI
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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