ANH1
MCID: XLN006
MIFTS: 48

X-Linked Sideroblastic Anemia (ANH1) malady

Immune, Blood, Metabolic, Bone categories

Summaries for X-Linked Sideroblastic Anemia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 pyridoxine-responsive sideroblastic anemia and majeed syndrome, and has symptoms including red cell disorders, anaemia and red cell structure/shape anomalies. 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 marrow, spleen and heart.

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:47 300751

Aliases & Classifications for X-Linked Sideroblastic Anemia

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
x-linked sideroblastic anemia:
Inheritance: X-linked recessive; Age of onset: Variable


Aliases & Descriptions:

x-linked sideroblastic anemia 8 64 43 21 49
xlsa 8 64 21 49
anemia hereditary sideroblastic 43 20 22
anemia, sideroblastic, x-linked 9 20 47
bone marrow diseases 64 45 61
anh1 64 43 21
erythroid 5-aminolevulinate synthase deficiency 43 21
anemia, sex-linked hypochromic sideroblastic 64 21
congenital sideroblastic anaemia 64 21
anemia, hereditary sideroblastic 64 21
hereditary iron-loading anemia 64 21
x-linked pyridoxine-responsive sideroblastic anemia 21
erythroid 5-aminolevulinate synthetase deficiency 64
anemia sex-linked hypochromic sideroblastic 43
x chromosome-linked sideroblastic anemia 21
anemia congenital sideroblastic 45
congenital sideroblastic anemia 43
hereditary sideroblastic anemia 61
bone marrow disease 10
hypochromic anemia 64


External Ids:

Disease Ontology8 DOID:0060063
OMIM47 300751
MESH via Orphanet36 C536761
ICD10 via Orphanet26 D64.0
ICD1025 D64.0

Related Diseases for X-Linked Sideroblastic Anemia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to X-Linked Sideroblastic Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1pyridoxine-responsive sideroblastic anemia30.8TFE3
2majeed syndrome30.4ACO1, FXN, HSCB
3hemochromatosis30.4ACO1, FXN
4deficiency anemia30.4ABCB7, SLC19A2, ALAS2
5pyridoxine-refractory autosomal recessive sideroblastic anemia30.2GLRX5, SLC25A38
6aplastic anemia30.2ABCB7, ALAS2
7hypochromic anemia11.1
8x-linked sideroblastic anemia with ataxia10.8
9hypochromic microcytic anemia10.7
10ataxia10.7
11iron deficiency anemia10.5
12refractory anemia10.4
13thalassemia10.4
14congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome10.3
15spinocerebellar ataxia10.3
16sideroblastic anemia acquired10.3
17hemosiderosis10.3
18alpha thalassemia10.3
19char syndrome10.2
20sideroblastic anemia pyridoxine-responsive autosomal recessive10.2
21hematopoietic stem cell transplantation10.2
22myoma10.1
23rosacea10.1
24beta thalassemia10.1
25thrombocytosis10.1
26celiac disease10.1
27acne10.1
28turner syndrome10.1
29benjamin syndrome10.1
30hypochromic microcytic anemia with iron overload 210.1
31hemoglobin d disease10.0
32hemoglobin e disease10.0
33hemoglobin c disease10.0
34hemoglobinuria10.0
35bone lymphoma10.0
36n syndrome10.0
37paroxysmal nocturnal hemoglobinuria10.0
38myelodysplastic syndromes10.0
39microcytic anemia10.0ALAS2
40cerebellar ataxia10.0FXN
41mitochondrial disorders10.0FXN, PUS1
42myopathy10.0FXN, PUS1
43friedreich ataxia10.0ABCB7, ACO1, FXN, HSCB
44sideroblastic anemia10.0PUS1, ALAS1, ALAS2, FXN, ABCB7
45pearson syndrome10.0ALAS2, SLC25A38, ABCB7, GLRX5, PUS1

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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

300751

Clinical synopsis from OMIM:

300751

Symptoms:

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

Drugs & Therapeutics for X-Linked Sideroblastic Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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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 UMLS61/NDF-RT41:

Genetic Tests for X-Linked Sideroblastic Anemia

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to X-Linked Sideroblastic Anemia:

33
Bone marrow, Spleen, Heart, Liver, Skin

Animal Models for X-Linked Sideroblastic Anemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for X-Linked Sideroblastic Anemia

Sources:
51PubMed
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Articles related to X-Linked Sideroblastic Anemia:

idTitleAuthorsYear
1
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (10196363)
1999
2
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. (1671320)
1991

Genetic Variations for X-Linked Sideroblastic Anemia

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for X-Linked Sideroblastic Anemia:

63 (show all 20)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with X-Linked Sideroblastic Anemia

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to X-Linked Sideroblastic Anemia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1protoporphyrin ix45 11 2411.9ABCB7, FXN, ALAS2
2ferric ammonium citrate459.8ACO1, FXN
3formyl-coa45 2410.6ALAS2, ALAS1
4sulfur459.6ACO1, FXN
5haem459.5ALAS1, ALAS2
6glycine29 11 2411.4ALAS2, ALAS1
7iron-sulfur459.4ACO1, ABCB7, FXN, ALAS2
8vitamin b6459.3ALAS1, ALAS2
9deferoxamine45 1110.3ACO1, FXN
10Coenzyme A11 2410.3SUCLA2, ALAS2, ALAS1
115-aminolevulinic acid45 2410.0ALAS1, ACO1, ALAS2
12heme29 11 2410.8ALAS2, ALAS1, SUCLA2, FXN, ABCB7
13leucine458.8ABCB7, ALAS2, ALAS1, TFE3
14glucose458.5FXN, SLC19A2, ACO1, TFE3, ABCB7
15oxygen45 249.4ABCB7, ACO1, ALAS2, FXN, ALAS1
16iron45 249.0HSCB, ABCB7, FXN, ACO1, ALAS1, ALAS2

GO Terms for genes affiliated with X-Linked Sideroblastic Anemia

Sources:
16Gene Ontology
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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:0302189.9SLC25A38, ALAS2
2protoporphyrinogen IX biosynthetic processGO:0067829.5ALAS1, ALAS2
3porphyrin-containing compound metabolic processGO:0067789.3ALAS1, ALAS2
4tricarboxylic acid cycleGO:0060999.2ACO1, SUCLA2
5cellular iron ion homeostasisGO:0068799.2ABCB7, FXN, ALAS2, ACO1
6heme biosynthetic processGO:0067838.9ALAS1, FXN, SLC25A38, ALAS2
7small molecule metabolic processGO:0442818.1SUCLA2, ALAS1, SLC19A2, FXN, ALAS2, ABCB7

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Sideroblastic Anemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet