Sideroblastic Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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:

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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

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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

Synonyms:

(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate

(6R)-Leucovorin

(6R,2'S)-Folinic acid

(6R,S)-5-Formyltetrahydrofolate

(6S)-5-Formyl-5,6,7,8-tetrahydrofolate

(6S)-5-FORMYL-5,6,7,8-TETRAHYDROFOLIC ACID

(6S)-5-Formyltetrahydrofolate

(6S)-5-FORMYLTETRAHYDROFOLIC ACID

(6S)-Folinate

(6S)-FOLINIC ACID

(6S)-LEUCOVORIN

(S)-LEUCOVORIN

[6R]-5-formyl-5,6,7,8-tetrahydrofolate

10-Formyl-7,8-dihydrofolate

10-Formyl-7,8-dihydrofolic acid

5 Formyltetrahydrofolate

5 Formyltetrahydropteroylglutamate

5-Formlyl-5,6,7,8-tetrahydrofolate,calcium salt

5-Formyl-(6S)-tetrahydrofolic acid

5-Formyl-5,6,7,8-tetrahydrofolate

5-Formyl-5,6,7,8-tetrahydrofolic acid

5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid

5-Formyltetrahydrofolate

5-Formyltetrahydrofolic acid

5-Formyltetrahydropteroylglutamate

5-Formyltetrahydropteroylglutamic acid

5-formylTHF

6 S Leucovorin

6R-Leucovorin

6S Leucovorin

6S-Leucovorin

6-S-Leucovorin

Acid, folinic

Acide folinique

Acido folinico

ácido levofolínico

Calcium citrovorum factor

Calcium folinate

Calcium leucovorin

CF

Citrovorum factor

Dextrofolinic acid

Factor, citrovorum

Folinate

Folinate, calcium

Folinic acid

Folinic acid calcium salt

Folinic acid calcium salt USP27

Folinic acid SF

Folinic acid-SF

FUSILEV

KHAPZORY

Kunyrin

L(-)-5-Formyl-5,6,7,8-tetrahydrofolate

L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid

Leucal

Leucoverin

Leucovorin

Leucovorin calcium

Leucovorin folinic acid

Leucovorin, (D)-isomer

Leucovorin, (DL)-isomer

Leucovorin, (R)-isomer

Leucovorin, (S)-isomer

Leucovorin, calcium

Leucovorin, calcium (1:1) salt

Leucovorin, calcium (1:1) salt, (DL)-isomer

Leucovorin, calcium (1:1) salt, (S)-isomer

Leucovorin, calcium (1:1) salt, pentahydrate

Leucovorin, monopotassium salt, (S)-isomer

Leucovorin, monosodium salt

Leucovorin, monosodium salt, (S)-isomer

Leucovorinum

Leukovorin

Leukovorum

Levo leucovorin

LEVOFOLENE

Levofolinate

LEVOFOLINIC ACID

Levoleucovorin

Levo-leucovorin

L-Folinate

L-FOLINIC ACID

LFP-754

L-Leucovorin

L-N-[P-[[(2-amino-5-Formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-glutamic acid

Monosodium salt leucovorin

N(5)-Formyltetrahydrofolate

N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid

N-[4-({[(6S)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)benzoyl]-L-glutamate

N-[4-({[(6S)-2-AMINO-5-FORMYL-4-OXO-1,4,5,6,7,8-HEXAHYDROPTERIDIN-6-YL]METHYL}AMINO)BENZOYL]-L-GLUTAMIC ACID

N-{[4-({[(6R)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)phenyl]carbonyl}-L-glutamic acid

N5-Formyl-5,6,7,8-tetrahydrofolate

N5-Formyl-5,6,7,8-tetrahydrofolic acid

N5-Formyltetrahydrofolate

N5-Formyltetrahydrofolic acid

N5-Formyl-THF

Pteroyl-D-glutamate

Rescuvolin

S Leucovorin

S-Leucovorin

Welcovorin

Wellcovorin

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

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Genetic Tests for Sideroblastic Anemia

Genetic tests related to Sideroblastic Anemia:

#	Genetic test	Affiliating Genes
1	Sideroblastic Anemia ²⁸

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Anatomical Context for Sideroblastic Anemia

Organs/tissues related to Sideroblastic Anemia:

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

Sources

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	Paulsson K...MDS Foundation	20093295	2010
2	Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation. ⁵³ ⁶²	Kakhlon O...Cabantchik ZI	20393584	2010
3	Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. ⁵³ ⁶²	Bergmann AK...Neufeld EJ	19731322	2010
4	Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. ⁵³ ⁶²	Camaschella C	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	Whatley SD...Puy H	18760763	2008
6	The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. ⁵³ ⁶²	Boultwood J...Wainscoat JS	18398482	2008
7	The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin. ⁵³ ⁶²	Zanella I...Arosio P	18160053	2008
8	Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G. ⁵³ ⁶²	Sussman NL...Barton JC	19066423	2008
9	Biosynthesis of heme in mammals. ⁵³ ⁶²	Ajioka RS...Kushner JP	16839620	2006
10	X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. ⁵³ ⁶²	Aivado M...Bottomley SS	16735131	2006
11	Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes. ⁵³ ⁶²	Nakajima O...Yamamoto M	16716198	2006
12	Strategies for biology- and molecular-based treatment of myelodysplastic syndromes. ⁵³ ⁶²	Lindberg EH	16178803	2005
13	[Progress of study on sideroblastic anemia and its possible gene therapy--review]. ⁵³ ⁶²	Wang YQ...Zhu P	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	Zeharia A...Lerman-Sagie T	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	Patton JR...Fischel-Ghodsian N	15772074	2005
16	The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast. ⁵³ ⁶²	Campanella A...Levi S	15282205	2004
17	[Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia]. ⁵³ ⁶²	Wang YQ...Zhang Y	15498136	2004
18	Onset of X-linked sideroblastic anemia in the fourth decade. ⁵³ ⁶²	Cortesao E...Tamagnini G	15477213	2004
19	Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). ⁵³ ⁶²	Bykhovskaya Y...Fischel-Ghodsian N	15108122	2004
20	[Genetics of hereditary iron overload]. ⁵³ ⁶²	Le Gall JY...David V	15506716	2004
21	A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. ⁵³ ⁶²	Bekri S...Bishop DF	12663458	2003
22	Late-onset X-linked sideroblastic anemia following hemodialysis. ⁵³ ⁶²	Furuyama K...Sassa S	12531813	2003
23	Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. ⁵³ ⁶²	Taketani S...Furukawa T	12480705	2003
24	Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia. ⁵³ ⁶²	Cazzola M...Arosio P	12406866	2003
25	Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors. ⁵³ ⁶²	Tehranchi R...Hellstrom-Lindberg E	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	Sun G...Vickery LE	12938016	2003
27	Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. ⁵³ ⁶²	Cazzola M...Bishop DF	12393718	2002
28	The genetics of inherited sideroblastic anemias. ⁵³ ⁶²	Fleming MD	12382202	2002
29	Absence of mitochondrial superoxide dismutase results in a murine hemolytic anemia responsive to therapy with a catalytic antioxidant. ⁵³ ⁶²	Friedman JS...Burakoff SJ	11304553	2001
30	Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. ⁵³ ⁶²	Cazzola M...Bishop DF	11110715	2000
31	[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]. ⁵³ ⁶²	Zhu P...Bu D	11877024	2000
32	Animal models for X-linked sideroblastic anemia. ⁵³ ⁶²	Yamamoto M...Nakajima O	11039663	2000
33	Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload. ⁵³ ⁶²	Nakajima O...Yamamoto M	10562540	1999
34	Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis. ⁵³ ⁶²	Sadlon TJ...May BK	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	Harigae H...Sasaki T	10577279	1999
36	[An infant case of sideroblastic anemia that responded to oral pyridoxine]. ⁵³ ⁶²	Kudo K...Kojima S	10496043	1999
37	Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). ⁵³ ⁶²	Allikmets R...Koeller DM	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	Cotter PD...Bishop DF	10029606	1999
39	Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. ⁵³ ⁶²	Furuyama K...Yamamoto M	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	Cotter PD...Bishop DF	7560104	1995
41	A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. ⁵³ ⁶²	Prades E...Grandchamp B	7705839	1995
42	Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. ⁵³ ⁶²	Bottomley SS...Bishop DF	7592563	1995
43	5-Aminolevulinate synthase and the first step of heme biosynthesis. ⁵³ ⁶²	Ferreira GC...Gong J	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	Cotter PD...Bishop DF	7949148	1994
45	X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. ⁵³ ⁶²	Cox TC...May BK	8107717	1994
46	Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia. ⁵³ ⁶²	Ferreira GC	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	Cox TC...Mulley JC	1301172	1992
48	5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. ⁵³ ⁶²	Bottomley SS...May BK	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	Cotter PD...Bishop DF	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	Bishop DF...Astrin KH	2347585	1990

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Genes for Sideroblastic Anemia

Genes related to Sideroblastic Anemia (0 elite genes):

(show all 31)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PUS1	Pseudouridine Synthase 1	Protein Coding	57.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	15772074 15971356 15108122 (more) 17056637
2	ALAS2	5'-Aminolevulinate Synthase 2	Protein Coding	49.68	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	7912287 11877024 9226183 (more) 15498136 1301172 18637800 8107717 12663458 12393718 10029606 8089650 7592562 19786205 7560104 12382202 7949148 16935983 16735131 16343269 9688293 10577279 1577484 15477213 7592563 19066423 9858242 19731322 15972158 11039663 10444183 9488633 16716198 11110715 10582344 9542324 12531813 10562540 7705839 18760763 9806542 9423809 9020366
3	ABCB7	ATP Binding Cassette Subfamily B Member 7	Protein Coding	37.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	20093295 12938016 12480705 (more) 15506716 18398482 10196363 11843825
4	SLC25A38	Solute Carrier Family 25 Member 38	Protein Coding	36.05	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
5	GLRX5	Glutaredoxin 5	Protein Coding	35.48	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
6	YARS2	Tyrosyl-TRNA Synthetase 2	Protein Coding	34.69	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
7	TRNT1	TRNA Nucleotidyl Transferase 1	Protein Coding	33.77	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
8	ALAS1	5'-Aminolevulinate Synthase 1	Protein Coding	26.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	1415186 8089650 7592563 (more) 10496043 16121195 2347585
9	FTMT	Ferritin Mitochondrial	Protein Coding	23.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12406866 15282205 18160053
10	HSCB	HscB Mitochondrial Iron-Sulfur Cluster Cochaperone	Protein Coding	23.23	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
11	LARS2	Leucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	22.95	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
12	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	22.89	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
13	HSPA9	Heat Shock Protein Family A (Hsp70) Member 9	Protein Coding	22.88	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
14	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	20.98	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
15	FXN	Frataxin	Protein Coding	15.91	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12938016 20393584
16	FECH	Ferrochelatase	Protein Coding	15.46	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	SLC19A2	Solute Carrier Family 19 Member 2	Protein Coding	13.77	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	UROD	Uroporphyrinogen Decarboxylase	Protein Coding	13.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16839620
19	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	13.63	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	TFR2	Transferrin Receptor 2	Protein Coding	13.28	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	HFE	Homeostatic Iron Regulator	Protein Coding	13.28	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	SLC40A1	Solute Carrier Family 40 Member 1	Protein Coding	13.07	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	HJV	Hemojuvelin BMP Co-Receptor	Protein Coding	13.02	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	TFRC	Transferrin Receptor	Protein Coding	12.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10468869 8289479
25	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	9.98	DISEASES inferred ¹⁴ ¹⁴
26	SOD2	Superoxide Dismutase 2	Protein Coding	8.62	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11304553
27	SLC25A37	Solute Carrier Family 25 Member 37	Protein Coding	7.38	DISEASES inferred ¹⁴
28	ACO1	Aconitase 1	Protein Coding	7.04	DISEASES inferred ¹⁴
29	TFE3	Transcription Factor Binding To IGHM Enhancer 3	Protein Coding	7.03	GeneCards inferred via : Publications (show sections)
30	ISCU	Iron-Sulfur Cluster Assembly Enzyme	Protein Coding	6.92	DISEASES inferred ¹⁴
31	SLC25A28	Solute Carrier Family 25 Member 28	Protein Coding	6.84	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Sideroblastic Anemia

Search GEO for disease gene expression data for Sideroblastic Anemia.

Sources

Pathways for Sideroblastic Anemia

Pathways related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.15	UROD SLC19A2 MT-CO1 MT-ATP6 HSCB GLRX5
2	heme biosynthesis ⁶⁶ ⁷⁴ ⁶¹ Show member pathways Defective UGT1A4 causes hyperbilirubinemia ⁶⁶ heme a biosynthesis ⁶¹ heme b biosynthesis I (aerobic) ⁶¹ heme biosynthesis from uroporphyrinogen-III I ⁶¹ Heme degradation ⁶⁶ heme degradation I ⁶¹ Hemesynthesis defects and porphyrias ⁷⁴ Metabolism of porphyrins ⁶⁶ superpathway of b heme biosynthesis from glycine ⁶¹ tetrapyrrole biosynthesis ⁶¹ tetrapyrrole biosynthesis II (from glycine) ⁶¹	11.52	UROD FECH ALAS2 ALAS1
3	Mitochondrial iron-sulfur cluster biogenesis ⁶⁶ Show member pathways Maturation of replicase proteins ⁶⁶	9.95	HSCB GLRX5 FXN

Sources

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

Sources for Sideroblastic Anemia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: SDR003 MIFTS: 52	Sideroblastic Anemia Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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