SIDBA3
MCID: ANM032
MIFTS: 22

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 58 76
Sideroblastic Anemia 3, Pyridoxine-Refractory 30 6
Sidba3 58 76
Adult-Onset Autosomal Recessive Sideroblastic Anemia 60
Glrx5-Related Sideroblastic Anemia 60

Characteristics:

Orphanet epidemiological data:

60
adult-onset autosomal recessive sideroblastic anemia
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

58
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:

33
anemia, sideroblastic, 3, pyridoxine-refractory:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616860
MeSH 45 D000756
ICD10 via Orphanet 35 D64.0
UMLS via Orphanet 75 C2673914
Orphanet 60 ORPHA255132

Summaries for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

UniProtKB/Swiss-Prot : 76 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 and bone marrow, and related phenotypes are cirrhosis and splenomegaly

OMIM : 58 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

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

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

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cirrhosis 33 occasional (7.5%) HP:0001394
2 splenomegaly 33 HP:0001744
3 hepatomegaly 33 HP:0002240
4 type ii diabetes mellitus 33 HP:0005978
5 anemia 33 HP:0001903
6 elevated hepatic transaminase 33 HP:0002910
7 jaundice 33 HP:0000952
8 increased serum ferritin 33 HP:0003281
9 hepatosplenomegaly 33 HP:0001433
10 conjugated hyperbilirubinemia 33 HP:0002908
11 elevated hepatic iron concentration 33 HP:0012465
12 anisocytosis 33 HP:0011273
13 decreased mean corpuscular volume 33 HP:0025066
14 hypochromia 33 HP:0032231
15 erythroid hyperplasia 33 HP:0012132

Symptoms via clinical synopsis from OMIM:

58
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

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 30 GLRX5

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

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

42
Bone, Bone Marrow

Publications for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

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

# Title Authors Year
1
Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein. ( 26100117 )
2016
2
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. ( 25342667 )
2014

Variations for Anemia, Sideroblastic, 3, Pyridoxine-Refractory

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

76
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 GLRX5 NM_016417.2(GLRX5): c.301A> C (p.Lys101Gln) single nucleotide variant Pathogenic rs869312752 GRCh38 Chromosome 14, 95543952: 95543952
2 GLRX5 NM_016417.2(GLRX5): c.301A> C (p.Lys101Gln) single nucleotide variant Pathogenic rs869312752 GRCh37 Chromosome 14, 96010289: 96010289
3 GLRX5 NM_016417.2(GLRX5): c.443T> C (p.Leu148Ser) single nucleotide variant Pathogenic rs765487627 GRCh38 Chromosome 14, 95544094: 95544094
4 GLRX5 NM_016417.2(GLRX5): c.443T> C (p.Leu148Ser) single nucleotide variant Pathogenic rs765487627 GRCh37 Chromosome 14, 96010431: 96010431

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....