SIDBA2
MCID: ANM033
MIFTS: 23

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 56 73 29 6
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 73 13
Sidba2 56 73
Anemia, Sideroblastic, Type 2, Pyridoxine-Refractory 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
genetic heterogeneity


HPO:

31
anemia, sideroblastic, 2, pyridoxine-refractory:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 205950
OMIM Phenotypic Series 56 PS300751
MeSH 43 D000756
SNOMED-CT via HPO 68 258211005

Summaries for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

UniProtKB/Swiss-Prot : 73 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, is also known as anemia, sideroblastic, pyridoxine-refractory, autosomal recessive. 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 increased serum ferritin and decreased mean corpuscular volume

More information from OMIM: 205950 PS300751

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

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

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

31
# Description HPO Frequency HPO Source Accession
1 increased serum ferritin 31 HP:0003281
2 decreased mean corpuscular volume 31 HP:0025066
3 hypochromia 31 HP:0032231

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
increased serum ferritin

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

Clinical features from OMIM:

205950

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, 2, Pyridoxine-Refractory 29 SLC25A38

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

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

40
Bone, Bone Marrow

Publications for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Articles related to Anemia, Sideroblastic, 2, Pyridoxine-Refractory:

# Title Authors PMID Year
1
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. 56 6
19412178 2009
2
Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. 56
7912287 1994
3
A study of a female with congenital sideroblastic anemia. 56
7039309 1982

Variations for Anemia, Sideroblastic, 2, Pyridoxine-Refractory

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A38 NM_017875.4(SLC25A38):c.70-2A>CSNV Pathogenic 561108 rs1233124208 3:39430984-39430984 3:39389493-39389493
2 SLC25A38 NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter)SNV Pathogenic 1118 rs121918330 3:39433004-39433004 3:39391513-39391513
3 SLC25A38 NM_017875.4(SLC25A38):c.277-1G>ASNV Pathogenic 1121 rs869312029 3:39432931-39432931 3:39391440-39391440
4 SLC25A38 NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)SNV Pathogenic 1122 rs121918332 3:39436065-39436065 3:39394574-39394574
5 SLC25A38 NM_017875.4(SLC25A38):c.320_321CT[2] (p.Tyr109fs)short repeat Likely pathogenic 1119 rs869320719 3:39432975-39432976 3:39391484-39391485
6 SLC25A38 NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)SNV Likely pathogenic 1120 rs121918331 3:39433447-39433447 3:39391956-39391956
7 SLC25A38 NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs)insertion Likely pathogenic 804435 3:39435946-39435947 3:39394455-39394456
8 SLC25A38 NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)SNV Likely pathogenic 631920 rs146864395 3:39433512-39433512 3:39392021-39392021
9 SLC25A38 NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser)SNV Conflicting interpretations of pathogenicity 777964 3:39425226-39425226 3:39383735-39383735
10 SLC25A38 NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)SNV Conflicting interpretations of pathogenicity 345145 rs144149294 3:39431961-39431961 3:39390470-39390470
11 SLC25A38 NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=)SNV Conflicting interpretations of pathogenicity 506833 rs531290475 3:39433373-39433373 3:39391882-39391882
12 SLC25A38 NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)SNV Conflicting interpretations of pathogenicity 345143 rs142420345 3:39425227-39425227 3:39383736-39383736
13 SLC25A38 NM_017875.4(SLC25A38):c.-292G>ASNV Conflicting interpretations of pathogenicity 345135 rs142441701 3:39424924-39424924 3:39383433-39383433
14 SLC25A38 NM_017875.4(SLC25A38):c.*304C>TSNV Conflicting interpretations of pathogenicity 345152 rs113251543 3:39438315-39438315 3:39396824-39396824
15 SLC25A38 NM_017875.4(SLC25A38):c.*490G>ASNV Conflicting interpretations of pathogenicity 345158 rs150889211 3:39438501-39438501 3:39397010-39397010
16 SLC25A38 NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)SNV Conflicting interpretations of pathogenicity 345149 rs369980078 3:39433349-39433349 3:39391858-39391858
17 SLC25A38 NM_017875.4(SLC25A38):c.525G>C (p.Arg175=)SNV Conflicting interpretations of pathogenicity 382043 rs149992222 3:39433412-39433412 3:39391921-39391921
18 SLC25A38 NM_017875.4(SLC25A38):c.*404G>ASNV Uncertain significance 345155 rs886058473 3:39438415-39438415 3:39396924-39396924
19 SLC25A38 NM_017875.4(SLC25A38):c.-69C>TSNV Uncertain significance 345142 rs886058470 3:39425147-39425147 3:39383656-39383656
20 SLC25A38 NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)SNV Uncertain significance 345146 rs765578993 3:39432943-39432943 3:39391452-39391452
21 SLC25A38 NM_017875.4(SLC25A38):c.-237G>ASNV Uncertain significance 345136 rs527536267 3:39424979-39424979 3:39383488-39383488
22 SLC25A38 NM_017875.4(SLC25A38):c.-225G>ASNV Uncertain significance 345138 rs370977005 3:39424991-39424991 3:39383500-39383500
23 SLC25A38 NM_017875.4(SLC25A38):c.-219T>CSNV Uncertain significance 345139 rs886058469 3:39424997-39424997 3:39383506-39383506
24 SLC25A38 NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)SNV Uncertain significance 345144 rs144319567 3:39431077-39431077 3:39389586-39389586
25 SLC25A38 NM_017875.4(SLC25A38):c.*431G>ASNV Uncertain significance 345156 rs73058292 3:39438442-39438442 3:39396951-39396951
26 SLC25A38 NM_017875.4(SLC25A38):c.-325G>CSNV Uncertain significance 345133 rs886058467 3:39424891-39424891 3:39383400-39383400
27 SLC25A38 NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)SNV Uncertain significance 345148 rs143865753 3:39433101-39433101 3:39391610-39391610
28 SLC25A38 NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)SNV Uncertain significance 345150 rs886058471 3:39433457-39433457 3:39391966-39391966
29 SLC25A38 NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)SNV Uncertain significance 345151 rs764125735 3:39435927-39435927 3:39394436-39394436
30 SLC25A38 NM_017875.4(SLC25A38):c.*370C>TSNV Uncertain significance 345154 rs886058472 3:39438381-39438381 3:39396890-39396890
31 SLC25A38 NM_017875.4(SLC25A38):c.-227G>ASNV Uncertain significance 345137 rs886058468 3:39424989-39424989 3:39383498-39383498
32 SLC25A38 NM_017875.4(SLC25A38):c.-161G>ASNV Uncertain significance 345141 rs528990278 3:39425055-39425055 3:39383564-39383564
33 SLC25A38 NM_017875.4(SLC25A38):c.*718G>ASNV Uncertain significance 903631 3:39438729-39438729 3:39397238-39397238
34 SLC25A38 NM_017875.4(SLC25A38):c.456+10A>GSNV Uncertain significance 899963 3:39433121-39433121 3:39391630-39391630
35 SLC25A38 NM_017875.4(SLC25A38):c.626-5T>CSNV Uncertain significance 901142 3:39435896-39435896 3:39394405-39394405
36 SLC25A38 NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)SNV Uncertain significance 631919 rs1293528130 3:39433055-39433055 3:39391564-39391564
37 SLC25A38 NM_017875.4(SLC25A38):c.*305G>ASNV Uncertain significance 901678 3:39438316-39438316 3:39396825-39396825
38 SLC25A38 NM_017875.4(SLC25A38):c.*381G>CSNV Uncertain significance 901679 3:39438392-39438392 3:39396901-39396901
39 SLC25A38 NM_017875.4(SLC25A38):c.*395G>ASNV Uncertain significance 901680 3:39438406-39438406 3:39396915-39396915
40 SLC25A38 NM_017875.4(SLC25A38):c.*547C>TSNV Uncertain significance 903628 3:39438558-39438558 3:39397067-39397067
41 SLC25A38 NM_017875.4(SLC25A38):c.*548G>ASNV Uncertain significance 903629 3:39438559-39438559 3:39397068-39397068
42 SLC25A38 NM_017875.4(SLC25A38):c.-39G>CSNV Uncertain significance 901616 3:39425177-39425177 3:39383686-39383686
43 SLC25A38 NM_017875.4(SLC25A38):c.-15C>ASNV Uncertain significance 903564 3:39425201-39425201 3:39383710-39383710
44 SLC25A38 NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys)SNV Uncertain significance 903565 3:39431921-39431921 3:39390430-39390430
45 SLC25A38 NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val)SNV Uncertain significance 899961 3:39432935-39432935 3:39391444-39391444
46 SLC25A38 NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala)SNV Uncertain significance 899962 3:39432957-39432957 3:39391466-39391466
47 SLC25A38 NM_017875.4(SLC25A38):c.528C>A (p.Gly176=)SNV Uncertain significance 901140 3:39433415-39433415 3:39391924-39391924
48 SLC25A38 NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn)SNV Uncertain significance 901141 3:39433512-39433512 3:39392021-39392021
49 SLC25A38 NM_017875.4(SLC25A38):c.780A>G (p.Thr260=)SNV Uncertain significance 901143 3:39436055-39436055 3:39394564-39394564
50 SLC25A38 NM_017875.4(SLC25A38):c.*549G>ASNV Likely benign 903630 3:39438560-39438560 3:39397069-39397069

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

73
# 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

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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