RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: sideroblastic anemia
Accession: DOID:8955
browse the term
Definition: A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). (DO)
Synonyms: exact_synonym: hypochromic anemia with iron loading; sideroblastic anemias
narrow_synonym: RARS; RARS-T; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; refractory anaemia with ringed sideroblasts; refractory anaemia with sideroblasts; refractory anemia with ring sideroblasts and thrombocytosis
primary_id: MESH:D000756
xref: EFO:0003812 ; GARD:667 ; ICD10CM:D64.3 ; ICD9CM:285.0 ; NCI:C36078 ; OMIM:PS300751
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcb7
ATP binding cassette subfamily B member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16892088 PMID:18637800 PMID:18398482
RGD:11038732
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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Alad
aminolevulinate dehydratase
ISO
protein:decreased activity:kidney, liver, spleen
RGD
PMID:5891055
RGD:12904678
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Alas2
5'-aminolevulinate synthase 2
susceptibility
ISO
DNA:transversion:cds:p.F165L (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16716198 PMID:16892088 PMID:7949148
RGD:1599037
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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Calr
calreticulin
ISO
DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)
RGD
PMID:24325359
RGD:11352763
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19036111
NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
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Glrx5
glutaredoxin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18637800
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia
ClinVar
PMID:9389715 PMID:32906214
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Pus1
pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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Slc25a38
solute carrier family 25, member 38
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19412178
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16910769 PMID:21326867
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tfrc
transferrin receptor
ISO
mRNA,protein:increased expression:erythroblast:
RGD
PMID:21326867
RGD:11062136
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 4
OMIM ClinVar
PMID:3653362 PMID:25741868 PMID:26491070 PMID:28492532
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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Glrx5
glutaredoxin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Slc25a38
solute carrier family 25, member 38
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive
OMIM CTD ClinVar
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 PMID:25741868 PMID:25985931 PMID:26636621 PMID:28492532 PMID:28772256 PMID:29499877 PMID:29786897 PMID:30214775 PMID:30735661 PMID:31338833 PMID:31642437 PMID:32605921 PMID:32790119 PMID:33256393 PMID:34298585 More...
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Glrx5
glutaredoxin 5
ISO
ClinVar Annotator: match by term: Sideroblastic anemia 3
OMIM ClinVar
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 PMID:30660387 More...
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia
ClinVar
PMID:25741868
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
OMIM CTD ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Slc11a2
solute carrier family 11 member 2
ISO
ClinVar Annotator: match by term: SLC11A2-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35457224
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Pus1
pseudouridine synthase 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD ClinVar MouseDO
PMID:25741868 PMID:28492532
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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Yars2
tyrosyl-tRNA synthetase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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Pus1
pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition
OMIM ClinVar
PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 PMID:15971356 PMID:17056637 PMID:17576681 PMID:18648068 PMID:19731322 PMID:23707380 PMID:25058219 PMID:25227147 PMID:25741868 PMID:26556812 PMID:27374853 PMID:28492532 More...
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Yars2
tyrosyl-tRNA synthetase 2
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2
OMIM ClinVar
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 PMID:24344687 PMID:24430573 PMID:25638461 PMID:25741868 PMID:26633545 PMID:26944241 PMID:28492532 PMID:30026338 PMID:33144682 PMID:35393742 More...
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3
ClinVar
PMID:25037980 PMID:27812026 PMID:29350304
NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Alas2
5'-aminolevulinate synthase 2
onset
ISO
ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R452H, R452C, K156E(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) DNA:mutations:exons:p.K299Q,A172T(human)
OMIM ClinVar CTD RGD
PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18637800 PMID:18823803 PMID:20848343 PMID:21309041 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:23409301 PMID:24166784 PMID:25741868 PMID:28492532 PMID:28840292 PMID:30678654 PMID:32297424 PMID:35093382 PMID:21252495 PMID:11110715 PMID:7560104 More...
RGD:11035244 , RGD:11035243 , RGD:11035241
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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Apex2
apurinic/apyrimidinic endodeoxyribonuclease 2
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar
NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439
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Slc25a38
solute carrier family 25, member 38
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Hscb
HscB mitochondrial iron-sulfur cluster co-chaperone
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 5
OMIM ClinVar
PMID:32634119
NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
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Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
OMIM ClinVar
PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 PMID:29610179 PMID:30758723 PMID:31019026 PMID:31338833 PMID:31664448 PMID:32371413 PMID:32592741 PMID:33332575 PMID:33646446 PMID:33936027 PMID:34510712 More...
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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Abcb7
ATP binding cassette subfamily B member 7
susceptibility
ISO
DNA:missense mutation: :p.I400M (human) ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.V411L (1299G>C) (human) DNA:missense mutation:exon:p.E433K (1305G>A) (human)
ClinVar CTD OMIM RGD
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 PMID:17576681 PMID:21326867 PMID:22398176 PMID:25741868 PMID:28492532 PMID:10196363 PMID:11843825 PMID:11050011 More...
RGD:1598600 , RGD:11038735 , RGD:11038734
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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Alas2
5'-aminolevulinate synthase 2
ISO
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18969
syndrome
10889
myelodysplastic syndrome
243
Refractory Anemia
32
sideroblastic anemia
21
African iron overload
0
Autosomal Sideroblastic Anemia
1
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
1
Hypochromic Microcytic Anemia with Iron Overload 1
1
Sideroblastic Anemia 5
1
X-linked sideroblastic anemia with ataxia
2
autosomal dominant sideroblastic anemia 4
1
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
2
autosomal recessive pyridoxine-refractory sideroblastic anemia 3
1
myopathy, lactic acidosis, and sideroblastic anemia +
4
pyridoxine-responsive sideroblastic anemia
0
sideroblastic anemia 1
3
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
1
Path 2
disease
18969
disease of anatomical entity
18249
Hemic and Lymphatic Diseases
3849
hematopoietic system disease
3339
bone marrow disease
778
Bone Marrow Neoplasms
509
bone marrow cancer
509
myelodysplastic syndrome
243
Refractory Anemia
32
sideroblastic anemia
21
African iron overload
0
Autosomal Sideroblastic Anemia
1
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
1
Hypochromic Microcytic Anemia with Iron Overload 1
1
Sideroblastic Anemia 5
1
X-linked sideroblastic anemia with ataxia
2
autosomal dominant sideroblastic anemia 4
1
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
2
autosomal recessive pyridoxine-refractory sideroblastic anemia 3
1
myopathy, lactic acidosis, and sideroblastic anemia +
4
pyridoxine-responsive sideroblastic anemia
0
sideroblastic anemia 1
3
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
1