X-linked Sideroblastic Anemia malady

MedlinePlus: Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. it contains immature cells, called stem cells. the stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. if you have a bone marrow disease, there are problems with the stem cells or how they develop. leukemia is a cancer in which the bone marrow produces abnormal white blood cells. with aplastic anemia, the bone marrow doesn't make red blood cells. other diseases, such as lymphoma, can spread into the bone marrow and affect the production of blood cells. other causes of bone marrow disorders include your genetic makeup and environmental factors. symptoms of bone marrow diseases vary. treatments depend on the disorder and how severe it is. they might involve medicines, blood transfusions or a bone marrow transplant.²³

MalaCards: X-linked Sideroblastic Anemia, also known as bone marrow diseases, is related to sideroblastic anemia and anemia. An important gene associated with X-linked Sideroblastic Anemia is ABCB7 (ATP-binding cassette, sub-family B (MDR/TAP), member 7), and among its related pathways are Porphyrin and chlorophyll metabolism and Glycine, serine and threonine metabolism. The drugs nandrolone and oxymetholone and the compounds formyl-coa and haem have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and t cells, and related mouse phenotype mortality/aging.

Genetics Home Reference: X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name.¹⁷

OMIM: 300751

Aliases & Descriptions:

x-linked sideroblastic anemia 6 44 30 17 bone marrow diseases 44 17 32 23 43 xlsa 6 44 30 16 17 hereditary iron-loading anemia 44 30 17 anh1 44 30 17 erythroid 5-aminolevulinate synthase deficiency 30 17 anemia, sex-linked hypochromic sideroblastic 44 17 x chromosome-linked sideroblastic anemia 30 17 anemia, hereditary sideroblastic 44 17 congenital sideroblastic anaemia 44 17 anemia hereditary sideroblastic 30 16 congenital sideroblastic anemia 30 16

sideroblastic anemia x-linked 30 16 erythroid 5-aminolevulinate synthetase deficiency 44 anemia sex-linked hypochromic sideroblastic 30 anemia congenital sideroblastic 32 anemia, sideroblastic, x-linked 33 hereditary sideroblastic anemia 43 sideroblastic anemia 43 bone marrow disease 8 hypochromic anemia 44 malnutrition 43 anemia 43

Diseases related to x-linked sideroblastic anemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 756)

id	Related Disease	Score	Top Affiliating Genes
1	sideroblastic anemia	35.7	ABCB7, FXN, ALAS1, ALAS2
2	anemia	33.5	TFE3, ACO1, ABCB7, ALAS2, FXN, ALAS1
3	x-linked sideroblastic anemia with ataxia	33.0	ACO1, FXN, ABCB7, HSCB, ALAS2
4	ataxia	30.6	ACO1, FXN, ALAS2, HSCB, ABCB7
5	pyridoxine-responsive sideroblastic anemia	30.4	TFE3, ALAS2
6	microcytic anemia	30.4	ACO1, ALAS2
7	hemochromatosis	29.5	ACO1, FXN
8	iron overload	28.9	ABCB7, FXN, ACO1, ALAS2
9	carcinoma	25.4	FXN, ALAS1, TFE3, ACO1, ABCB7, HSCB
10	variegate porphyria	12.6	ALAS2, ALAS1
11	cerebellar ataxia	12.3	ABCB7, FXN, ALAS2
12	olivopontocerebellar atrophy	12.2	ABCB7, ALAS2, FXN
13	fanconi's anemia	11.8
14	friedreich ataxia	11.5	FXN, HSCB, ABCB7, ACO1
15	aplastic anemia	11.5
16	hemolytic anemia	11.1
17	diamond-blackfan anemia	10.4
18	sickle cell anemia	10.1
19	iron deficiency anemia	9.8
20	autoimmune hemolytic anemia	9.3
21	anemia of prematurity	9.0
22	protein-energy malnutrition	8.9
23	congenital dyserythropoietic anemia	8.9
24	thiamine-responsive megaloblastic anemia syndrome	8.8
25	megaloblastic anemia	8.8
26	hepatitis	8.7
27	dyserythropoietic anemia	8.5
28	arthritis	8.5
29	leukemia	8.5
30	rheumatoid arthritis	8.3
31	pernicious anemia	8.3
32	kidney disease	8.2
33	beta thalassemia	8.1
34	pyruvate kinase deficiency	8.0
35	thalassemia	8.0
36	myeloma	8.0
37	congenital dyserythropoietic anemia type i	7.9
38	multiple myeloma	7.9
39	neonatal anemia	7.9
40	congenital hemolytic anemia	7.7
41	hepatitis c	7.7
42	spinocerebellar ataxia	7.6
43	sideroblastic anemia with spinocerebellar ataxia	7.6
44	dyserythropoietic anemia with thrombocytopenia	7.6
45	macrocytic anemia	7.6
46	alpha thalassemia	7.5
47	breast cancer	7.4
48	malaria	7.4
49	congenital dyserythropoietic anemia ii	7.3
50	immunodeficiency	7.3

Clinical features from OMIM: 300751

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 carboplatin, darbepoetin alfa,recombinant, epoetin alfa,recombinant, nandrolone, nandrolone decanoate, nandrolone phenpropionate, oxymetholone, sodium ascorbate

Genetic tests related to x-linked sideroblastic anemia:

id	Genetic test	Affiliating Genes
1	X-linked Sideroblastic Anemia clinical/research	ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, YARS2

MalaCards organs/tissues related to x-linked sideroblastic anemia:

²²

MGI Mouse Phenotypes related to x-linked sideroblastic anemia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	7.3	FXN, ALAS1, ALAS2, ABCB7, ACO1, TFE3

Articles related to x-linked sideroblastic anemia:

(show all 25)

id	Title	Authors	Year	Affiliating Genes
1	X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation. (22398176)	D'Hooghe M.... Bekri S.	2012	ABCB7
2	New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. (21252495)	Kucerova J.... Divoky V.	2011	ALAS2
3	X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. (16735131)	Aivado M.... Bottomley S.S.	2006	ALAS2
4	Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia. (15498136)	Wang Y.Q.... Zhang Y.	2004	ALAS2
5	Onset of X-linked sideroblastic anemia in the fourth decade. (15477213)	Cortesao E.... Tamagnini G.	2004	ALAS2, ALAS1
6	A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. (12663458)	Bekri S.... Bishop D.F.	2003	ALAS2
7	Late-onset X-linked sideroblastic anemia following hemodialysis. (12531813)	Furuyama K.... Sassa S.	2003	ALAS2
8	Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. (12393718)	Cazzola M.... Bishop D.F.	2002	ALAS2
9	A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. (12031592)	Hurford M.T.... Tsongalis G.J.	2002	ALAS2
10	A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia (11877024)	Zhu P.... Bu D.	2000	ALAS2
11	Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. (11050011)	Bekri S.... Bishop D.F.	2000	ABCB7
12	Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. (11110715)	Cazzola M.... Bishop D.F.	2000	ALAS2
13	Animal models for X-linked sideroblastic anemia. (11039663)	Yamamoto M.... Nakajima O.	2000	ALAS2
14	X-linked sideroblastic anemia (10483144)	Muramatsu M.... Urabe A.	1999	ALAS1
15	Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (10196363)	Allikmets R.... Koeller D.M.	1999	ABCB7
16	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. (10029606)	Cotter P.D.... Bishop D.F.	1999	ALAS2
17	Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. (9621516)	Shimada Y.... Takahashi E.	1998	ABCB7
18	Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. (9226183)	Furuyama K.... Yamamoto M.	1997	ALAS2
19	A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. (7705839)	Prades E.... Grandchamp B.	1995	ALAS2
20	Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. (7592563)	Bottomley S.S.... Bishop D.F.	1995	ALAS2, ALAS1
21	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. (7560104)	Cotter P.D.... Bishop D.F.	1995	ALAS2
22	X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. (7949148)	Cotter P.D.... Bishop D.F.	1994	ALAS2
23	Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia. (8089650)	Ferreira G.C.	1993	ALAS2, ALAS1
24	Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. (1570328)	Cotter P.D.... Bishop D.F.	1992	ALAS2
25	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. (1301172)	Cox T.C.... Mulley J.C.	1992	ALAS2, TFE3

Genes related to x-linked sideroblastic anemia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ABCB7	ATP-binding cassette, sub-family B (MDR/TAP), member 7	11.1	Publications, Summaries
2	ALAS2	aminolevulinate, delta-, synthase 2	11.1	Publications
3	ALAS1	aminolevulinate, delta-, synthase 1	11.0	Publications
4	HSCB	HscB iron-sulfur cluster co-chaperone homolog (E. coli)	11.0
5	TFE3	transcription factor binding to IGHM enhancer 3	11.0	Publications
6	ACO1	aconitase 1, soluble	11.0
7	FXN	frataxin	11.0

Pathways related to x-linked sideroblastic anemia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Porphyrin and chlorophyll metabolism20	9.6	ALAS1, ALAS2
2	Glycine, serine and threonine metabolism20	9.3	ALAS1, ALAS2

Compounds related to x-linked sideroblastic anemia according to GeneDecks:

(show all 22)

id	Compound	Score	Top Affiliating Genes
1	formyl-coa32 18	10.9	ALAS1, ALAS2
2	haem32	9.9	ALAS2, ALAS1
3	glycine42 9 18 9	12.9	ALAS1, ALAS2
4	vitamin b632	9.8	ALAS2, ALAS1
5	Pyridoxal Phosphate9 9	10.7	ALAS1, ALAS2
6	Coenzyme A9 18 9	11.6	ALAS2, ALAS1
7	carbon dioxide32 18	10.6	ALAS1, ALAS2
8	protoporphyrin ix32 9 18 9	12.5	ABCB7, ALAS2, FXN
9	vitamin-e32	9.5	FXN, ABCB7
10	ferric ammonium citrate32	9.4	ACO1, FXN
11	deferoxamine32 9 9	11.3	ACO1, FXN
12	sulfur32	9.3	FXN, ACO1
13	5-aminolevulinic acid32 18	10.1	ALAS1, ALAS2, ACO1
14	Heme9 18 9	11.0	ABCB7, ALAS2, ALAS1, FXN
15	leucine32	8.9	ALAS1, ALAS2, ABCB7, TFE3
16	iron-sulfur32	8.7	FXN, ALAS2, ABCB7, ACO1
17	zinc32 18	9.6	FXN, ALAS2, ABCB7, ACO1
18	atp32	8.5	ACO1, ABCB7, ALAS2, FXN
19	cycloheximide32	8.5	ALAS1, ALAS2, ACO1
20	glucose32	8.2	FXN, ABCB7, ACO1, TFE3
21	oxygen32 18	9.2	FXN, ALAS1, ALAS2, ABCB7, ACO1
22	iron32 18	8.7	ACO1, ABCB7, HSCB, ALAS2, ALAS1, FXN

Cellular components related to x-linked sideroblastic anemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial matrix	GO:005759	9.1	FXN, ALAS1, ALAS2
2	mitochondrion	GO:005739	7.1	FXN, ALAS1, ALAS2, HSCB, ABCB7, ACO1

Biological processes related to x-linked sideroblastic anemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	porphyrin-containing compound metabolic process	GO:006778	9.6	ALAS1, ALAS2
2	protoporphyrinogen IX biosynthetic process	GO:006782	9.3	ALAS1, ALAS2
3	heme biosynthetic process	GO:006783	9.1	FXN, ALAS1, ALAS2
4	cellular iron ion homeostasis	GO:006879	8.6	ACO1, ALAS2, FXN

Molecular functions related to x-linked sideroblastic anemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	pyridoxal phosphate binding	GO:030170	9.6	ALAS1, ALAS2
2	5-aminolevulinate synthase activity	GO:003870	9.3	ALAS1, ALAS2