ANH1
MCID: XLN006
MIFTS: 64

X-Linked Sideroblastic Anemia (ANH1) malady

Immune diseases, Blood diseases, Metabolic diseases, Bone diseases categories

Summaries for X-Linked Sideroblastic Anemia

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. 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. the signs and symptoms of x-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. they range from mild to severe and most often appear in young adulthood. common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. x-linked sideroblastic anemia is caused by mutation in the alas2 gene. in rare cases, mutations are found in both the hfe gene and the alas2 gene, resulting in a more severe form of x-linked sideroblastic anemia. x-linked sideroblastic anemia is inherited in an x-linked recessive pattern. last updated: 3/11/2013

MalaCards: X-Linked Sideroblastic Anemia, also known as xlsa, is related to sideroblastic anemia and microcytic anemia, and has symptoms including red cell structure/shape anomalies, red cell disorders and structural and functional anomalies of the spleen. An important gene associated with X-Linked Sideroblastic Anemia is ALAS2 (aminolevulinate, delta-, synthase 2), and among its related pathways are Citric acid cycle (TCA cycle) and Glucuronidation. The drug carboplatin and the compounds protoporphyrin ix and ferric ammonium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spleen.

Genetics Home Reference:21 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.

Description from OMIM:46 300751

Aliases & Classifications for X-Linked Sideroblastic Anemia

About this section
Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 9diseasecard, 20GeneTests, 46OMIM, 44Novoseek, 60UMLS, 22GTR, 10DISEASES, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Immune diseases, Blood diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
x-linked sideroblastic anemia:
Inheritance: X-linked recessive; Age of onset: Variable


Aliases & Descriptions:

x-linked sideroblastic anemia 8 63 42 21 48
xlsa 8 63 21 48
anemia hereditary sideroblastic 42 20 22
anemia, sideroblastic, x-linked 9 20 46
bone marrow diseases 63 44 60
anh1 63 42 21
erythroid 5-aminolevulinate synthase deficiency 42 21
anemia, sex-linked hypochromic sideroblastic 63 21
congenital sideroblastic anaemia 63 21
anemia, hereditary sideroblastic 63 21
hereditary iron-loading anemia 63 21
x-linked pyridoxine-responsive sideroblastic anemia 21
erythroid 5-aminolevulinate synthetase deficiency 63
anemia sex-linked hypochromic sideroblastic 42
x chromosome-linked sideroblastic anemia 21
hereditary sideroblastic anemia 60
congenital sideroblastic anemia 42
anemia congenital sideroblastic 44
bone marrow disease 10
hypochromic anemia 63


External Ids:

Disease Ontology8 DOID:0060063
OMIM46 300751
SNOMED-CT via Orphanet57 25443007, 191260004
MESH via Orphanet35 C536761
ICD10 via Orphanet26 D64.0
ICD1025 D64.0

Related Diseases for X-Linked Sideroblastic Anemia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to X-Linked Sideroblastic Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1sideroblastic anemia31.5PUS1, ABCB7, FXN, ALAS1, ALAS2
2microcytic anemia31.0ALAS2
3pyridoxine-responsive sideroblastic anemia30.6TFE3
4majeed syndrome30.4ACO1, FXN, HSCB
5hemochromatosis30.4ACO1, FXN
6deficiency anemia30.4ALAS2, SLC19A2, ABCB7
7pyridoxine-refractory autosomal recessive sideroblastic anemia30.2GLRX5, SLC25A38
8aplastic anemia30.2ABCB7, ALAS2
9hypochromic anemia11.1
10x-linked sideroblastic anemia with ataxia10.8
11hypochromic microcytic anemia10.7
12iron deficiency anemia10.5
13thalassemia10.4
14congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome10.3
15sideroblastic anemia with spinocerebellar ataxia10.3
16spinocerebellar ataxia10.3
17hemosiderosis10.2
18alpha thalassemia10.2
19sideroblastic anemia pyridoxine-responsive autosomal recessive10.1
20myoma10.1
21rosacea10.1
22beta thalassemia10.1
23thrombocytosis10.1
24celiac disease10.1
25acne10.1
26hemoglobinopathy10.1
27hemolytic anemia10.1
28leukemia10.1
29macrocytic anemia10.1
30myeloid leukemia10.1
31renal cell carcinoma10.1
32benjamin syndrome10.1
33hypochromic microcytic anemia with iron overload 210.1
34hemoglobinuria10.0
35bone lymphoma10.0
36hodgkin's lymphoma10.0
37cerebellar ataxia10.0FXN
38mitochondrial disorders10.0FXN, PUS1
39myopathy10.0FXN, PUS1
40friedreich ataxia10.0ACO1, FXN, ABCB7, HSCB
41pearson syndrome10.0PUS1, GLRX5, ABCB7, SLC25A38, ALAS2

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



Diseases related to x-linked sideroblastic anemia

Clinical Features for X-Linked Sideroblastic Anemia

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

300751

Clinical synopsis from OMIM:

300751

Symptoms:

48 (show all 10)
  • red cell structure/shape anomalies
  • red cell disorders
  • structural and functional anomalies of the spleen
  • x-linked recessive inheritance
  • irregular/in bands/reticular skin hyperpigmentation
  • anaemia
  • structural anomalies of the cardio-circulatory system
  • insulin-independent/type 2 diabetes
  • storage liver disease
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction

Drugs & Therapeutics for X-Linked Sideroblastic Anemia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for X-Linked Sideroblastic Anemia

Drug clinical trials:

Search ClinicalTrials for X-Linked Sideroblastic Anemia

Search NIH Clinical Center for X-Linked Sideroblastic Anemia

Search CenterWatch for X-Linked Sideroblastic Anemia

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for X-Linked Sideroblastic Anemia

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to X-Linked Sideroblastic Anemia:

id Genetic test Affiliating Genes
1 X-Linked Sideroblastic Anemia20 ALAS2
2 Hereditary Sideroblastic Anemia20 22 YARS2

Anatomical Context for X-Linked Sideroblastic Anemia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to X-Linked Sideroblastic Anemia:

32
Bone, Bone marrow, Spleen, Liver, Skin, Heart, Lung

Animal Models for X-Linked Sideroblastic Anemia or affiliated genes

About this section

Publications for X-Linked Sideroblastic Anemia

About this section
Sources:
50PubMed
See all sources

Articles related to X-Linked Sideroblastic Anemia:

(show all 35)
idTitleAuthorsYear
1
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. (24166784)
2013
2
X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation. (22398176)
2012
3
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the I^-subunit of succinyl-CoA synthetase (SUCLA2). (22740690)
2012
4
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. (21252495)
2011
5
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. (17192398)
2007
6
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. (16735131)
2006
7
Onset of X-linked sideroblastic anemia in the fourth decade. (15477213)
2004
8
Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia]. (15498136)
2004
9
Iron overload due to X-linked sideroblastic anemia in an African American man. (15047047)
2004
10
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia. (12663458)
2003
11
Late-onset X-linked sideroblastic anemia following hemodialysis. (12531813)
2003
12
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. (12393718)
2002
13
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. (12031592)
2002
14
X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia. (11405213)
2001
15
A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]. (11877024)
2000
16
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. (11050011)
2000
17
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. (11110715)
2000
18
Animal models for X-linked sideroblastic anemia. (11039663)
2000
19
X-linked sideroblastic anemia]. (10483144)
1999
20
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (10196363)
1999
21
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)
1999
22
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. (9621516)
1998
23
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. (9226183)
1997
24
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. (7705839)
1995
25
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. (7592563)
1995
26
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)
1995
27
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)
1994
28
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388- to-Ser substitution in erythroid 5-aminolevulinate synthase. (8107717)
1994
29
X-linked, pyridoxine-responsive sideroblastic anemia. (8107723)
1994
30
X-Linked Sideroblastic Anemia and Ataxia (20301496)
1993
31
Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia. (8089650)
1993
32
Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. (1570328)
1992
33
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)
1992
34
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. (1671320)
1991
35
5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia. (3414687)
1988

Genetic Variations for X-Linked Sideroblastic Anemia

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for X-Linked Sideroblastic Anemia:

62 (show all 20)
id Symbol AA change Variation ID SNP ID
1ALAS2p.Thr388SerVAR_000562
2ALAS2p.Arg411CysVAR_000563
3ALAS2p.Ile476AsnVAR_000564
4ALAS2p.Tyr199HisVAR_012334
5ALAS2p.Arg204GlnVAR_012335
6ALAS2p.Arg448GlnVAR_012336
7ALAS2p.Arg452CysVAR_012337
8ALAS2p.Asp159TyrVAR_018604
9ALAS2p.Arg560HisVAR_018605
10ALAS2p.Lys156GluVAR_066232
11ALAS2p.Arg170HisVAR_066233
12ALAS2p.Arg218HisVAR_066234rs185504937
13ALAS2p.Glu242LysVAR_066235
14ALAS2p.Asp263AsnVAR_066236
15ALAS2p.Pro339LeuVAR_066237
16ALAS2p.Arg375CysVAR_066238
17ALAS2p.Arg411HisVAR_066239
18ALAS2p.Arg452GlyVAR_066240
19ALAS2p.Arg452HisVAR_066241
20ALAS2p.Arg572HisVAR_066243

Expression for genes affiliated with X-Linked Sideroblastic Anemia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with X-Linked Sideroblastic Anemia

Search GEO for disease gene expression data for X-Linked Sideroblastic Anemia.

Pathways for genes affiliated with X-Linked Sideroblastic Anemia

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
See all sources

Compounds for genes affiliated with X-Linked Sideroblastic Anemia

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
See all sources

Compounds related to X-Linked Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1protoporphyrin ix44 11 2411.9ALAS2, FXN, ABCB7
2ferric ammonium citrate449.8ACO1, FXN
3formyl-coa44 2410.6ALAS1, ALAS2
4sulfur449.6ACO1, FXN
5deferoxamine44 1110.5FXN, ACO1
6haem449.5ALAS2, ALAS1
7glycine28 11 2411.4ALAS2, ALAS1
8iron-sulfur449.4ALAS2, ACO1, FXN, ABCB7
9Coenzyme A11 2410.3ALAS2, ALAS1, SUCLA2
10vitamin b6449.1ALAS1, ALAS2
115-aminolevulinic acid44 2410.0ACO1, ALAS1, ALAS2
12heme28 11 2410.8ABCB7, FXN, SUCLA2, ALAS1, ALAS2
13leucine448.8TFE3, ABCB7, ALAS1, ALAS2
14glucose448.5TFE3, ABCB7, FXN, SLC19A2, ACO1
15oxygen44 249.4ALAS2, ALAS1, ACO1, FXN, ABCB7
16iron44 249.0HSCB, ABCB7, FXN, ACO1, ALAS1, ALAS2

GO Terms for genes affiliated with X-Linked Sideroblastic Anemia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to X-Linked Sideroblastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057598.4ALAS2, ALAS1, SUCLA2, FXN, YARS2
2mitochondrionGO:0057396.0ALAS2, HSCB, PUS1, YARS2, GLRX5, ABCB7

Biological processes related to X-Linked Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1erythrocyte differentiationGO:0302189.9ALAS2, SLC25A38
2protoporphyrinogen IX biosynthetic processGO:0067829.5ALAS2, ALAS1
3porphyrin-containing compound metabolic processGO:0067789.3ALAS2, ALAS1
4tricarboxylic acid cycleGO:0060999.2SUCLA2, ACO1
5cellular iron ion homeostasisGO:0068799.2ABCB7, FXN, ACO1, ALAS2
6heme biosynthetic processGO:0067838.9ALAS2, ALAS1, SLC25A38, FXN
7small molecule metabolic processGO:0442818.1ABCB7, FXN, SLC19A2, SUCLA2, ALAS1, ALAS2

Molecular functions related to X-Linked Sideroblastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
12 iron, 2 sulfur cluster bindingGO:0515379.9FXN, GLRX5
25-aminolevulinate synthase activityGO:0038709.1ALAS2, ALAS1

Products for genes affiliated with X-Linked Sideroblastic Anemia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Sideroblastic Anemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet