MCID: SDR003
MIFTS: 52

Sideroblastic Anemia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Sideroblastic Anemia

MalaCards integrated aliases for Sideroblastic Anemia:

Name: Sideroblastic Anemia 11 19 58 75 28 5 14 71
Anemia, Sideroblastic 75 43 38
Anemia Sideroblastic 11 19 53
Anemia, Hypochromic with Iron Loading 11

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked dominant,X-linked recessive 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:8955
ICD9CM 34 285.0
MeSH 43 D000756
NCIt 49 C36078
SNOMED-CT 68 154810008
ICD10 31 D64.3
MESH via Orphanet 44 D000756
UMLS via Orphanet 72 C0002896
Orphanet 58 ORPHA1047
UMLS 71 C0002896

Summaries for Sideroblastic Anemia

Orphanet: 58 Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).

MalaCards based summary: Sideroblastic Anemia, also known as anemia, sideroblastic, is related to myopathy, lactic acidosis, and sideroblastic anemia 1 and myopathy, lactic acidosis, and sideroblastic anemia 2. An important gene associated with Sideroblastic Anemia is PUS1 (Pseudouridine Synthase 1), and among its related pathways/superpathways are Metabolism and heme biosynthesis. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related phenotype is Increased shRNA abundance (Z-score > 2).

GARD: 19 Sideroblastic anemia is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. In this condition, the iron inside red blood cells is inadequately used to make hemoglobin, despite normal amounts of iron. As a result, iron accumulates in the red blood cells, giving a ringed appearance to the nucleus (ringed sideroblast). The signs and symptoms of this condition may include fatigue, breathing difficulties, weakness, and enlargement of the liver or spleen. There are many potential causes of Sideroblastic anemia. Depending on the cause, it can be classified as hereditary (sometimes called congenital), acquired, and idiopathic (cause unknown).

Disease Ontology: 11 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

Wikipedia: 75 Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces... more...

Related Diseases for Sideroblastic Anemia

Diseases in the Sideroblastic Anemia family:

Anemia, Sideroblastic, 4 Anemia, Sideroblastic, 1
Anemia, Sideroblastic, 5 Autosomal Dominant Sideroblastic Anemia 4

Diseases related to Sideroblastic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 247)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 33.4 YARS2 PUS1 MT-ATP6
2 myopathy, lactic acidosis, and sideroblastic anemia 2 33.3 YARS2 SLC25A38
3 anemia, sideroblastic, 2, pyridoxine-refractory 33.2 SLC25A38 HSPA9
4 myopathy, lactic acidosis, and sideroblastic anemia 3 33.0 YARS2 PUS1 MT-CO1 MT-ATP6
5 anemia, sideroblastic, and spinocerebellar ataxia 32.8 SLC25A38 HSCB GLRX5 FXN FECH ALAS2
6 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 32.7 YARS2 TRNT1 SLC25A38 PUS1 LARS2 HSCB
7 myopathy, lactic acidosis, and sideroblastic anemia 32.7 YARS2 PUS1 MT-ATP6
8 anemia, sideroblastic, 1 32.3 TFR2 SLC25A38 PUS1 HSCB HAMP GLRX5
9 pearson marrow-pancreas syndrome 32.3 YARS2 SLC25A38 SLC19A2 PUS1 MT-ATP6 GLRX5
10 deficiency anemia 31.2 TFR2 SLC25A38 SLC19A2 MT-ATP6 HAMP FXN
11 lactic acidosis 31.0 YARS2 PUS1 MT-CO1 MT-ATP6 LARS2
12 mitochondrial disease 30.9 YARS2 MT-ATP6 FXN
13 microcytic anemia 30.9 TFR2 HAMP GLRX5 FECH ALAS2
14 mitochondrial myopathy 30.8 YARS2 PUS1 MT-CO1 MT-ATP6 LARS2 FXN
15 iron deficiency anemia 30.6 TFR2 HAMP FECH
16 hypochromic microcytic anemia 30.6 SLC25A38 HAMP ALAS2 ABCB7
17 photoparoxysmal response 1 30.6 UROD FECH
18 aplastic anemia 30.6 SLC25A38 PUS1 GLRX5 FECH ALAS2 ABCB7
19 iron overload 30.6 UROD TFR2 HAMP ALAS2
20 myoclonic epilepsy associated with ragged-red fibers 30.5 MT-CO1 MT-ATP6 LARS2
21 hemochromatosis, type 1 30.4 UROD TFR2 HAMP FXN FECH ALAS2
22 x-linked protoporphyria 30.4 FECH ALAS2
23 kearns-sayre syndrome 30.4 PUS1 MT-CO1 MT-ATP6 FXN
24 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.4 YARS2 MT-CO1 MT-ATP6 LARS2
25 perrault syndrome 30.2 YARS2 LARS2 HSPA9
26 aceruloplasminemia 30.0 TFR2 MT-ATP6 HAMP FXN FTMT
27 protoporphyria, erythropoietic, 1 29.9 UROD SLC25A38 HSCB GLRX5 FECH ALAS2
28 porphyria 29.7 UROD TFR2 HAMP FECH ALAS2 ALAS1
29 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.8
30 hydrops, lactic acidosis, and sideroblastic anemia 11.8
31 anemia, sideroblastic, 3, pyridoxine-refractory 11.7
32 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 11.6
33 retinitis pigmentosa and erythrocytic microcytosis 11.6
34 anemia, hypochromic microcytic, with iron overload 2 11.5
35 anemia, sideroblastic, 4 11.4
36 pyridoxine-responsive sideroblastic anemia 11.4
37 autosomal dominant sideroblastic anemia 4 11.4
38 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 11.4
39 anemia, sideroblastic, 5 11.4
40 constitutional sideroblastic anemia 11.1
41 myopathy 10.6
42 myelodysplastic syndrome 10.6
43 iron metabolism disease 10.5
44 refractory anemia 10.5
45 acute leukemia 10.5
46 turner syndrome 10.4
47 thrombocytosis 10.4
48 baylisascariasis 10.3 MT-CO1 MT-ATP6
49 sparganosis 10.3 MT-CO1 MT-ATP6
50 mitochondrial myopathy, infantile, transient 10.3 MT-CO1 MT-ATP6

Comorbidity relations with Sideroblastic Anemia via Phenotypic Disease Network (PDN): (show all 12)


Active Peptic Ulcer Disease Acute Cystitis
Chronic Kidney Disease Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypothyroidism Iron Deficiency Anemia
Neutropenia Osteoporosis
Protein-Energy Malnutrition Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2

Graphical network of the top 20 diseases related to Sideroblastic Anemia:



Diseases related to Sideroblastic Anemia

Symptoms & Phenotypes for Sideroblastic Anemia

GenomeRNAi Phenotypes related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 ABCB7 ALAS1 ALAS2 FECH FTMT FXN
2 no effect GR00402-S-2 10.18 ALAS1 ALAS2 FECH FTMT FXN GLRX5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.05 SLC19A2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.05 TRNT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.05 FXN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.05 SLC19A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.05 TRNT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-167 10.05 SLC19A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.05 SLC19A2 TRNT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.05 SLC19A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.05 FXN HSCB YARS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.05 FXN
13 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.05 FXN
14 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.05 TRNT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-27 10.05 SLC19A2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.05 FXN HSCB YARS2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-64 10.05 TRNT1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.05 HSCB YARS2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.05 TRNT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.05 FXN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.05 SLC19A2

Drugs & Therapeutics for Sideroblastic Anemia

Drugs for Sideroblastic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2 55-98-1 2478
2
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
3
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
4
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
5
Treosulfan Approved, Investigational Phase 2 299-75-2 9296
6
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8 Folic Acid Antagonists Phase 2
9 Immunoglobulins, Intravenous Phase 2
10 Folate Phase 2
11 Alkylating Agents Phase 2
12 Antirheumatic Agents Phase 2
13 Vitamin B9 Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Immunoglobulins Phase 2
16 Calcineurin Inhibitors Phase 2
17 Vitamin B Complex Phase 2
18 Antimetabolites Phase 2
19 Antilymphocyte Serum Phase 2
20 Thymoglobulin Phase 2
21 Antibodies Phase 2
22 Immunosuppressive Agents Phase 2
23 gamma-Globulins Phase 2
24 Dermatologic Agents Phase 2
25 Rho(D) Immune Globulin Phase 2
26 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for the Treatment of Bone Marrow Failure Diseases Recruiting NCT04965597 Phase 2 Treosulfan;Fludarabine Phosphate;Tacrolimus;Methotrexate

Search NIH Clinical Center for Sideroblastic Anemia

Cochrane evidence based reviews: anemia, sideroblastic

Genetic Tests for Sideroblastic Anemia

Genetic tests related to Sideroblastic Anemia:

# Genetic test Affiliating Genes
1 Sideroblastic Anemia 28

Anatomical Context for Sideroblastic Anemia

Organs/tissues related to Sideroblastic Anemia:

MalaCards : Bone Marrow, Bone, Myeloid, Spleen, Liver, Heart, Pancreas

Publications for Sideroblastic Anemia

Articles related to Sideroblastic Anemia:

(show top 50) (show all 850)
# Title Authors PMID Year
1
The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations. 53 62
20093295 2010
2
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation. 53 62
20393584 2010
3
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 53 62
19731322 2010
4
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. 53 62
19786205 2009
5
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. 53 62
18760763 2008
6
The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. 53 62
18398482 2008
7
The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin. 53 62
18160053 2008
8
Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G. 53 62
19066423 2008
9
Biosynthesis of heme in mammals. 53 62
16839620 2006
10
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. 53 62
16735131 2006
11
Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes. 53 62
16716198 2006
12
Strategies for biology- and molecular-based treatment of myelodysplastic syndromes. 53 62
16178803 2005
13
[Progress of study on sideroblastic anemia and its possible gene therapy--review]. 53 62
15972158 2005
14
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. 53 62
15971356 2005
15
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. 53 62
15772074 2005
16
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast. 53 62
15282205 2004
17
[Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia]. 53 62
15498136 2004
18
Onset of X-linked sideroblastic anemia in the fourth decade. 53 62
15477213 2004
19
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). 53 62
15108122 2004
20
[Genetics of hereditary iron overload]. 53 62
15506716 2004
21
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. 53 62
12663458 2003
22
Late-onset X-linked sideroblastic anemia following hemodialysis. 53 62
12531813 2003
23
Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. 53 62
12480705 2003
24
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia. 53 62
12406866 2003
25
Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors. 53 62
12393561 2003
26
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone. 53 62
12938016 2003
27
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. 53 62
12393718 2002
28
The genetics of inherited sideroblastic anemias. 53 62
12382202 2002
29
Absence of mitochondrial superoxide dismutase results in a murine hemolytic anemia responsive to therapy with a catalytic antioxidant. 53 62
11304553 2001
30
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. 53 62
11110715 2000
31
[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]. 53 62
11877024 2000
32
Animal models for X-linked sideroblastic anemia. 53 62
11039663 2000
33
Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload. 53 62
10562540 1999
34
Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis. 53 62
10582344 1999
35
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. 53 62
10577279 1999
36
[An infant case of sideroblastic anemia that responded to oral pyridoxine]. 53 62
10496043 1999
37
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). 53 62
10196363 1999
38
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. 53 62
10029606 1999
39
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. 53 62
9226183 1997
40
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. 53 62
7560104 1995
41
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. 53 62
7705839 1995
42
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. 53 62
7592563 1995
43
5-Aminolevulinate synthase and the first step of heme biosynthesis. 53 62
7592562 1995
44
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. 53 62
7949148 1994
45
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. 53 62
8107717 1994
46
Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia. 53 62
8089650 1993
47
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia. 53 62
1301172 1992
48
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. 53 62
1415186 1992
49
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations. 53 62
1577484 1992
50
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. 53 62
2347585 1990

Variations for Sideroblastic Anemia

ClinVar genetic disease variations for Sideroblastic Anemia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PUS1 NM_025215.6(PUS1):c.1047C>T (p.Asn349=) SNV Likely Benign
721364 rs145061048 GRCh37: 12:132426339-132426339
GRCh38: 12:131941794-131941794
2 PUS1 NM_025215.6(PUS1):c.1065G>T (p.Pro355=) SNV Likely Benign
512031 rs147555676 GRCh37: 12:132426357-132426357
GRCh38: 12:131941812-131941812
3 PUS1 NM_025215.6(PUS1):c.1197C>T (p.Phe399=) SNV Benign
138854 rs35461276 GRCh37: 12:132426489-132426489
GRCh38: 12:131941944-131941944
4 PUS1 NM_025215.6(PUS1):c.999G>C (p.Leu333=) SNV Benign
138853 rs150359622 GRCh37: 12:132426291-132426291
GRCh38: 12:131941746-131941746
5 PUS1 NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) SNV Benign
138859 rs76655496 GRCh37: 12:132416813-132416813
GRCh38: 12:131932268-131932268
6 PUS1 NM_025215.6(PUS1):c.345C>T (p.Asp115=) SNV Benign
138857 rs145798848 GRCh37: 12:132416761-132416761
GRCh38: 12:131932216-131932216
7 PUS1 NM_025215.6(PUS1):c.364C>A (p.Arg122=) SNV Benign
138858 rs142954643 GRCh37: 12:132416780-132416780
GRCh38: 12:131932235-131932235
8 PUS1 NM_025215.6(PUS1):c.621G>A (p.Thr207=) SNV Benign
215035 rs142044204 GRCh37: 12:132425913-132425913
GRCh38: 12:131941368-131941368

Expression for Sideroblastic Anemia

Search GEO for disease gene expression data for Sideroblastic Anemia.

Pathways for Sideroblastic Anemia

GO Terms for Sideroblastic Anemia

Cellular components related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 10.03 SLC25A38 MT-CO1 MT-ATP6 HSPA9 FECH ALAS2
2 mitochondrial matrix GO:0005759 10 ALAS1 ALAS2 FECH FTMT FXN GLRX5
3 mitochondrion GO:0005739 9.8 ABCB7 ALAS1 ALAS2 FECH FTMT FXN
4 iron-sulfur cluster assembly complex GO:1990229 9.56 GLRX5 FXN

Biological processes related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 10.03 SLC25A38 HSPA9 FECH ALAS2
2 iron-sulfur cluster assembly GO:0016226 9.96 HSPA9 HSCB GLRX5 FXN ABCB7
3 response to iron ion GO:0010039 9.93 TFR2 HAMP FXN
4 cellular iron ion homeostasis GO:0006879 9.93 ABCB7 ALAS2 FTMT FXN HAMP TFR2
5 protoporphyrinogen IX biosynthetic process GO:0006782 9.88 UROD ALAS2 ALAS1
6 iron ion transmembrane transport GO:0034755 9.86 HAMP ABCB7
7 [2Fe-2S] cluster assembly GO:0044571 9.85 FXN GLRX5 HSCB
8 hemoglobin biosynthetic process GO:0042541 9.84 ALAS2 ALAS1
9 positive regulation of aconitate hydratase activity GO:1904234 9.83 FXN FTMT
10 positive regulation of succinate dehydrogenase activity GO:1904231 9.81 FXN FTMT
11 positive regulation of lyase activity GO:0051349 9.78 FTMT FXN
12 iron ion homeostasis GO:0055072 9.65 TFR2 HAMP GLRX5 FXN FECH ABCB7
13 porphyrin-containing compound metabolic process GO:0006778 9.62 UROD ALAS2 ALAS1
14 porphyrin-containing compound biosynthetic process GO:0006779 9.55 UROD FECH
15 tetrapyrrole biosynthetic process GO:0033014 9.49 ALAS2 ALAS1
16 heme biosynthetic process GO:0006783 9.4 UROD SLC25A38 FXN FECH ALAS2 ALAS1

Molecular functions related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA binding GO:0000049 9.85 YARS2 TRNT1 PUS1
2 ferrous iron binding GO:0008198 9.63 FXN FTMT FECH
3 ferric iron binding GO:0008199 9.62 FXN FTMT
4 ferroxidase activity GO:0004322 9.56 FXN FTMT
5 2 iron, 2 sulfur cluster binding GO:0051537 9.43 GLRX5 FXN FECH
6 5-aminolevulinate synthase activity GO:0003870 8.92 ALAS2 ALAS1

Sources for Sideroblastic Anemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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