MCID: ANM029
MIFTS: 39

Anemia, Sideroblastic, X-Linked malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Metabolic diseases, Bone diseases categories

Summaries for Anemia, Sideroblastic, X-Linked

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NIH Rare Diseases:41 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 based summary: Anemia, Sideroblastic, X-Linked, also known as x-linked sideroblastic anemia, is related to sideroblastic anemia and x-linked sideroblastic anemia with ataxia, and has symptoms including anemia, abnormality of the cardiovascular system and abnormality of the spleen. An important gene associated with Anemia, Sideroblastic, X-Linked is ALAS2 (aminolevulinate, delta-, synthase 2). The drugs ferric ammonium citrate and ferric ammonium citrate,green have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spleen.

MedlinePlus:32 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.

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.

OMIM:45 The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and... (300751) more...

Aliases & Classifications for Anemia, Sideroblastic, X-Linked

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Sources:
45OMIM, 10diseasecard, 9Disease Ontology, 63Wikipedia, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 11DISEASES, 60UMLS, 43Novoseek, 32MedlinePlus, 20GeneTests, 22GTR, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Anemia, Sideroblastic, X-Linked, Aliases & Descriptions:

Name: Anemia, Sideroblastic, X-Linked 45 10
X-Linked Sideroblastic Anemia 9 63 41 21 47
Xlsa 9 63 41 21 47
Bone Marrow Diseases 63 43 32 60
Hypochromic Anemia 9 63 11 60
Anemia Hereditary Sideroblastic 41 20 22
Hereditary Iron-Loading Anemia 63 41 21
Anh1 63 41 21
Erythroid 5-Aminolevulinate Synthase Deficiency 41 21
Anemia, Sex-Linked Hypochromic Sideroblastic 63 21
X Chromosome-Linked Sideroblastic Anemia 41 21
 
Congenital Sideroblastic Anaemia 63 21
Anemia, Hereditary Sideroblastic 63 21
Sideroblastic Anemia X-Linked 41 20
Anemia Hypochromic 9 43
X-Linked Pyridoxine-Responsive Sideroblastic Anemia 21
Erythroid 5-Aminolevulinate Synthetase Deficiency 63
Anemia Sex-Linked Hypochromic Sideroblastic 41
Hereditary Sideroblastic Anemia 60
Congenital Sideroblastic Anemia 41
Anemia Congenital Sideroblastic 43
Normocytic Hypochromic Anemia 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
x-linked sideroblastic anemia:
Inheritance: X-linked recessive; Age of onset: All ages


External Ids:

OMIM45 300751
Disease Ontology9 DOID:0060063, DOID:11759
NCIt38 C34380
MeSH33 D000747
SNOMED-CT55 44452003
Orphanet47 75563
MESH via Orphanet34 C536761
ICD10 via Orphanet26 D64.0
ICD1025 D64.0

Related Diseases for Anemia, Sideroblastic, X-Linked

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



Diseases related to anemia, sideroblastic, x-linked

Symptoms for Anemia, Sideroblastic, X-Linked

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Symptoms by clinical synopsis from OMIM:

300751

Clinical features from OMIM:

300751

Symptoms:

 47 (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

HPO human phenotypes related to Anemia, Sideroblastic, X-Linked:

(show all 11)
id Description Frequency HPO Source Accession
1 anemia hallmark (90%) HP:0001903
2 abnormality of the cardiovascular system occasional (7.5%) HP:0001626
3 abnormality of the spleen occasional (7.5%) HP:0001743
4 respiratory insufficiency occasional (7.5%) HP:0002093
5 type ii diabetes mellitus occasional (7.5%) HP:0005978
6 irregular hyperpigmentation occasional (7.5%) HP:0007400
7 x-linked recessive inheritance HP:0001419
8 sideroblastic anemia HP:0001924
9 macrocytic anemia HP:0001972
10 variable expressivity HP:0003828
11 hypochromic microcytic anemia HP:0004840

Drugs & Therapeutics for Anemia, Sideroblastic, X-Linked

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Drug clinical trials:

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Search NIH Clinical Center for Anemia, Sideroblastic, X-Linked

Inferred drug relations via UMLS60/NDF-RT39:

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Genetic Tests for Anemia, Sideroblastic, X-Linked

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Genetic tests related to Anemia, Sideroblastic, X-Linked:

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

Anatomical Context for Anemia, Sideroblastic, X-Linked

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

31
Bone, Bone marrow, Spleen, Liver, Skin, Heart, Lung

Animal Models for Anemia, Sideroblastic, X-Linked or affiliated genes

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Publications for Anemia, Sideroblastic, X-Linked

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Variations for Anemia, Sideroblastic, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Anemia, Sideroblastic, X-Linked:

62 (show all 25)
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.Pro520LeuVAR_066242rs201062903
21ALAS2p.Arg572HisVAR_066243
22ALAS2p.Phe165LeuVAR_072328
23ALAS2p.Arg170CysVAR_072329
24ALAS2p.Val301AlaVAR_072330
25ALAS2p.Arg517GlyVAR_072331

Clinvar genetic disease variations for Anemia, Sideroblastic, X-Linked:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1ALAS2NM_000032.4(ALAS2): c.1427T> A (p.Ile476Asn)single nucleotide variantPathogenicrs137852299GRCh37Chr X, 55041190: 55041190
2ALAS2NM_000032.4(ALAS2): c.1163C> G (p.Thr388Ser)single nucleotide variantPathogenicrs137852300GRCh37Chr X, 55042016: 55042016
3ALAS2NM_000032.4(ALAS2): c.495C> A (p.Phe165Leu)single nucleotide variantPathogenicrs137852301GRCh37Chr X, 55047628: 55047628
4ALAS2NM_000032.4(ALAS2): c.871G> A (p.Gly291Ser)single nucleotide variantPathogenicrs137852302GRCh37Chr X, 55044051: 55044051
5ALAS2NM_000032.4(ALAS2): c.1231C> T (p.Arg411Cys)single nucleotide variantPathogenicrs137852305GRCh37Chr X, 55041386: 55041386
6ALAS2NM_000032.4(ALAS2): c.1702A> G (p.Ser568Gly)single nucleotide variantPathogenicrs137852306GRCh37Chr X, 55035675: 55035675
7ALAS2NM_000032.4(ALAS2): c.1184G> A (p.Cys395Tyr)single nucleotide variantPathogenicrs137852307GRCh37Chr X, 55041433: 55041433
8ALAS2NM_000032.4(ALAS2): c.475G> T (p.Asp159Tyr)single nucleotide variantPathogenicrs137852308GRCh37Chr X, 55047648: 55047648
9ALAS2NM_000032.4(ALAS2): c.475G> A (p.Asp159Asn)single nucleotide variantPathogenicrs137852308GRCh37Chr X, 55047648: 55047648
10ALAS2ALAS2, -206C-Gsingle nucleotide variantPathogenic
11ALAS2NM_000032.4(ALAS2): c.1570C> G (p.His524Asp)single nucleotide variantPathogenicrs137852309GRCh37Chr X, 55039949: 55039949
12ALAS2NM_000032.4(ALAS2): c.595T> C (p.Tyr199His)single nucleotide variantPathogenicrs137852310GRCh37Chr X, 55047528: 55047528
13ALAS2NM_000032.4(ALAS2): c.1354C> T (p.Arg452Cys)single nucleotide variantPathogenicrs137852311GRCh37Chr X, 55041263: 55041263

Expression for genes affiliated with Anemia, Sideroblastic, X-Linked

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

Pathways for genes affiliated with Anemia, Sideroblastic, X-Linked

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Compounds for genes affiliated with Anemia, Sideroblastic, X-Linked

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GO Terms for genes affiliated with Anemia, Sideroblastic, X-Linked

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Products for genes affiliated with Anemia, Sideroblastic, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Anemia, Sideroblastic, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet