MCID: ANM029
MIFTS: 41

Anemia, Sideroblastic, X-Linked malady

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

Summaries for Anemia, Sideroblastic, X-Linked

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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 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). Affiliated tissues include bone, bone marrow and spleen.

MedlinePlus:34 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:23 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:47 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:
47OMIM, 10Disease Ontology, 11diseasecard, 65Wikipedia, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 34MedlinePlus, 57SNOMED-CT, 62UMLS, 40NCIt, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet
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Anemia, Sideroblastic, X-Linked, Aliases & Descriptions:

Name: Anemia, Sideroblastic, X-Linked 47 11
X-Linked Sideroblastic Anemia 10 65 43 23 49
Xlsa 10 65 43 23 49
Anemia Hereditary Sideroblastic 43 22 24
Hereditary Iron-Loading Anemia 65 43 23
Bone Marrow Diseases 65 45 34
Hypochromic Anemia 10 65 12
Anh1 65 43 23
Erythroid 5-Aminolevulinate Synthase Deficiency 43 23
Anemia, Sex-Linked Hypochromic Sideroblastic 65 23
 
X Chromosome-Linked Sideroblastic Anemia 43 23
Anemia, Hereditary Sideroblastic 65 23
Congenital Sideroblastic Anaemia 65 23
Sideroblastic Anemia X-Linked 43 22
Anemia Hypochromic 10 45
X-Linked Pyridoxine-Responsive Sideroblastic Anemia 23
Erythroid 5-Aminolevulinate Synthetase Deficiency 65
Anemia Sex-Linked Hypochromic Sideroblastic 43
Congenital Sideroblastic Anemia 43
Anemia Congenital Sideroblastic 45


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM47 300751
Disease Ontology10 DOID:0060063, DOID:11759
NCIt40 C34380
MeSH35 D000747
SNOMED-CT57 44452003
Orphanet49 75563
MESH via Orphanet36 C536761
ICD10 via Orphanet28 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:

 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

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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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 Anemia22 ALAS2
2 Hereditary Sideroblastic Anemia22 24 YARS2

Anatomical Context for Anemia, Sideroblastic, X-Linked

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

33
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:

64 (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:

7 (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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Sources for Anemia, Sideroblastic, X-Linked

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet