MCID: ANM029
MIFTS: 49

Anemia, Sideroblastic, X-Linked malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Metabolic diseases

Aliases & Classifications for Anemia, Sideroblastic, X-Linked

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Aliases & Descriptions for Anemia, Sideroblastic, X-Linked:

Name: Anemia, Sideroblastic, X-Linked 51 69 12
X-Linked Sideroblastic Anemia 11 70 47 24 25 53 13
Xlsa 11 70 47 24 25 53 69
Hypochromic Anemia 11 69 13 67
Hereditary Sideroblastic Anemia 24 69 67
Hereditary Iron-Loading Anemia 47 25 69
Anh1 47 25 69
Erythroid 5-Aminolevulinate Synthase Deficiency 47 25
X Chromosome-Linked Sideroblastic Anemia 47 25
Anemia, Hereditary Sideroblastic 25 26
Congenital Sideroblastic Anemia 47 24
 
Anemia Hypochromic 11 49
X-Linked Pyridoxine-Responsive Sideroblastic Anemia 25
Anemia, Sex-Linked Hypochromic Sideroblastic 25
Anemia Sex-Linked Hypochromic Sideroblastic 47
Congenital Sideroblastic Anaemia 25
Anemia Congenital Sideroblastic 49
Anemia Hereditary Sideroblastic 47
Sideroblastic Anemia X-Linked 47
Anemia, Sideroblastic, 1 69
Anemia, Hypochromic 38
Sidba1 69

Characteristics:

Orphanet epidemiological data:

53
x-linked sideroblastic anemia:
Inheritance: X-linked recessive; Age of onset: All ages

HPO:

63
anemia, sideroblastic, x-linked:
Inheritance: x-linked recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 300751
Disease Ontology11 DOID:0060063, DOID:11759
ICD1029 D50, D64.0
NCIt44 C34380
SNOMED-CT61 44452003
Orphanet53 ORPHA75563
MESH via Orphanet39 C536761
ICD10 via Orphanet30 D64.0
MedGen36 C0221018

Summaries for Anemia, Sideroblastic, X-Linked

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NIH Rare Diseases:47 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 atransferrinemia and macrocytic anemia, 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 (5'-Aminolevulinate Synthase 2), and among its related pathways are Porphyrin and chlorophyll metabolism and Iron metabolism in placenta. The drugs ferric ammonium citrate,green and ferric ammonium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related mouse phenotypes are hematopoietic system and liver/biliary system.

Genetics Home Reference:25 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:51 The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and... (300751) more...

UniProtKB/Swiss-Prot:69 Anemia, sideroblastic, 1: A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.

Related Diseases for Anemia, Sideroblastic, X-Linked

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1atransferrinemia29.0ABCB7, ALAS2, HAMP, HFE2, SLC40A1, TFR2
2macrocytic anemia28.2HAMP, HBB, HFE2, SLC40A1, TFR2
3anemia, sideroblastic, with ataxia12.1
4autosomal recessive sideroblastic anemia11.0
5sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay11.0
6sideroblastic anemia pyridoxine-responsive autosomal recessive11.0
7anemia, hypochromic microcytic, with iron overload 211.0
8anemia, hypochromic microcytic11.0
9thalassemia, hispanic gamma-delta-beta10.9
10benjamin syndrome10.9
11sideroblastic anemia10.7
12y chromosome infertility10.4ALAS2, FECH
13ataxia10.4
14thbd-related atypical hemolytic-uremic syndrome10.2HAMP, HBB
15glucosephosphate dehydrogenase deficiency10.2HAMP, HBB
16classic hodgkin lymphoma, lymphocyte-rich type10.1ABCB7, TET2
17malignant visceral pleura tumor10.1TET2, TFRC
18thalassemia10.1
19cognitive impairment with or without cerebellar ataxia10.1HAMP, HBB
20pre-malignant neoplasm10.1ALAS2, HBB, TET2
21intestinal tuberculosis10.0ALAS2, FECH, UROS
22postinflammatory pulmonary fibrosis10.0HBB, TET2
23lennox-gastaut syndrome10.0ABCB7, ACO1, TET2
24hemophagocytic reticulosis10.0HAMP, HFE2
25hemochromatosis10.0
26refractory anemia10.0
27migraine, with or without aura 139.9ALAD, FECH, UROS
28sickle cell anemia9.9HBB, TFR2, TFRC
29porphyria variegata9.9ALAD, FECH, UROS
30hemochromatosis, type 49.9SLC40A1, TFR2
31slate pneumoconiosis9.9HBB, SLC40A1, TFRC
32tuberculoid leprosy9.9ACO1, TFRC
33metal metabolism disorder9.8ABCB7, ALAS1, ALAS2, FECH, YARS2
34palmoplantar keratoderma, nagashima type9.8ALAD, ALAS2, FECH, UROS
35inflammatory bowel disease 28, early onset, autosomal recessive9.7ALAD, ALAS1, FECH, UROS
36ovarian cystic teratoma9.7HAMP, HFE2, TFRC
37hereditary multiple osteochondromas9.7HFE2, TFR2
38kcnq2-related disorders9.6HAMP, HFE2, TFR2
39scalp dermatosis9.6ALAD, ALAS1, ALAS2, FECH, UROS
40coproporphyria9.6ALAD, ALAS1, ALAS2, FECH, UROS
41kohler's disease9.3HAMP, HFE2, TFR2, TFRC
42rift valley fever9.3ALAD, ALAS1, ALAS2, FECH, HAMP, UROS
43posterior foramen magnum meningioma9.2FECH, HAMP, HFE2, TFR2
44tendinosis8.4HAMP, HFE2, SLC40A1, TET2, TFR2, TFRC
45nasu-hakola disease8.3ACO1, ALAS2, HAMP, HFE2, SLC40A1, TFR2
46porphyria cutanea tarda8.2ALAD, HAMP, HFE2, SLC40A1, TFR2, TFRC
47aarskog-scott syndrome6.1ABCB7, ACO1, ALAD, ALAS2, FECH, HAMP

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

Human phenotypes related to Anemia, Sideroblastic, X-Linked:

 63 53 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia63 53 hallmark (90%) Very frequent (99-80%) HP:0001903
2 abnormality of the cardiovascular system63 occasional (7.5%) HP:0001626
3 abnormality of the spleen63 occasional (7.5%) HP:0001743
4 respiratory insufficiency63 occasional (7.5%) HP:0002093
5 type ii diabetes mellitus63 occasional (7.5%) HP:0005978
6 irregular hyperpigmentation63 occasional (7.5%) HP:0007400
7 sideroblastic anemia63 HP:0001924
8 macrocytic anemia63 HP:0001972
9 hypochromic microcytic anemia63 HP:0004840
10 glucose intolerance53 Occasional (29-5%)
11 hyperpigmentation of the skin53 Occasional (29-5%)
12 pallor53 Very frequent (99-80%)
13 muscle weakness53 Very frequent (99-80%)
14 splenomegaly53 Occasional (29-5%)
15 dyspnea53 Occasional (29-5%)
16 elevated hepatic transaminases53 Occasional (29-5%)
17 abnormality of iron homeostasis53 Very frequent (99-80%)
18 fatigue53 Very frequent (99-80%)

Drugs & Therapeutics for Anemia, Sideroblastic, X-Linked

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Drugs for Anemia, Sideroblastic, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical Solutions7793

Interventional clinical trials:

idNameStatusNCT IDPhase
1Dry Eye Evaluation After Transepithelial PRKCompletedNCT02210793
2Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461

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

Inferred drug relations via UMLS67/NDF-RT45:

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Cochrane evidence based reviews: anemia, hypochromic

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 Hereditary Sideroblastic Anemia26 24 YARS2
2 X-Linked Sideroblastic Anemia24 ALAS2

Anatomical Context for Anemia, Sideroblastic, X-Linked

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

35
Bone, Bone marrow, Skin, Spleen, Heart, Liver, Eye

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

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MGI Mouse Phenotypes related to Anemia, Sideroblastic, X-Linked:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.4ALAS2, FECH, HFE2, SLC40A1, TET2, TFR2
2MP:00053707.4ABCB7, FECH, HFE2, SLC40A1, TET2, TFR2
3MP:00107686.2ABCB7, ACO1, ALAS1, ALAS2, FECH, HFE2

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:

69 (show all 25)
id Symbol AA change Variation ID SNP ID
1ALAS2p.Thr388SerVAR_000562rs137852300
2ALAS2p.Arg411CysVAR_000563rs137852305
3ALAS2p.Ile476AsnVAR_000564rs137852299
4ALAS2p.Tyr199HisVAR_012334rs137852310
5ALAS2p.Arg204GlnVAR_012335
6ALAS2p.Arg448GlnVAR_012336
7ALAS2p.Arg452CysVAR_012337rs137852311
8ALAS2p.Asp159TyrVAR_018604rs137852308
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_066241rs863223904
20ALAS2p.Pro520LeuVAR_066242rs201062903
21ALAS2p.Arg572HisVAR_066243
22ALAS2p.Phe165LeuVAR_072328rs137852301
23ALAS2p.Arg170CysVAR_072329
24ALAS2p.Val301AlaVAR_072330
25ALAS2p.Arg517GlyVAR_072331

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

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1ALAS2NM_000032.4(ALAS2): c.1427T> A (p.Ile476Asn)SNVPathogenicrs137852299GRCh37Chr X, 55041190: 55041190
2ALAS2NM_000032.4(ALAS2): c.1163C> G (p.Thr388Ser)SNVPathogenicrs137852300GRCh37Chr X, 55042016: 55042016
3ALAS2NM_000032.4(ALAS2): c.495C> A (p.Phe165Leu)SNVPathogenicrs137852301GRCh37Chr X, 55047628: 55047628
4ALAS2NM_000032.4(ALAS2): c.871G> A (p.Gly291Ser)SNVPathogenicrs137852302GRCh37Chr X, 55044051: 55044051
5ALAS2NM_000032.4(ALAS2): c.895A> C (p.Lys299Gln)SNVPathogenicrs137852303GRCh37Chr X, 55044027: 55044027
6ALAS2NM_000032.4(ALAS2): c.514G> A (p.Ala172Thr)SNVPathogenicrs137852304GRCh37Chr X, 55047609: 55047609
7ALAS2NM_000032.4(ALAS2): c.569A> T (p.Asp190Val)SNVPathogenicrs28935484GRCh37Chr X, 55047554: 55047554
8ALAS2NM_000032.4(ALAS2): c.1231C> T (p.Arg411Cys)SNVPathogenicrs137852305GRCh37Chr X, 55041386: 55041386
9ALAS2NM_000032.4(ALAS2): c.1702A> G (p.Ser568Gly)SNVPathogenicrs137852306GRCh37Chr X, 55035675: 55035675
10ALAS2NM_000032.4(ALAS2): c.1184G> A (p.Cys395Tyr)SNVPathogenicrs137852307GRCh37Chr X, 55041433: 55041433
11ALAS2NM_000032.4(ALAS2): c.475G> T (p.Asp159Tyr)SNVPathogenicrs137852308GRCh37Chr X, 55047648: 55047648
12ALAS2NM_000032.4(ALAS2): c.475G> A (p.Asp159Asn)SNVPathogenicrs137852308GRCh37Chr X, 55047648: 55047648
13ALAS2NM_000032.4(ALAS2): c.-258C> GSNVPathogenicrs140772352GRCh37Chr X, 55057617: 55057617
14ALAS2NM_000032.4(ALAS2): c.1570C> G (p.His524Asp)SNVPathogenicrs137852309GRCh37Chr X, 55039949: 55039949
15ALAS2NM_000032.4(ALAS2): c.595T> C (p.Tyr199His)SNVPathogenicrs137852310GRCh37Chr X, 55047528: 55047528
16ALAS2NM_000032.4(ALAS2): c.1354C> T (p.Arg452Cys)SNVPathogenicrs137852311GRCh37Chr X, 55041263: 55041263

Copy number variations for Anemia, Sideroblastic, X-Linked from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1264550X6770000076000000Copy numberABC7X-linked sideroblastic anemia

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

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Cellular components related to Anemia, Sideroblastic, X-Linked according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.5ALAS1, ALAS2, FECH, YARS2
2HFE-transferrin receptor complexGO:19907129.4HFE2, TFR2, TFRC
3basolateral plasma membraneGO:00163239.1HFE2, SLC40A1, TFRC
4mitochondrionGO:00057397.9ABCB7, ACO1, ALAS1, ALAS2, FECH, TFRC

Biological processes related to Anemia, Sideroblastic, X-Linked according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1response to platinum ionGO:007054110.4ALAD, FECH
2response to methylmercuryGO:005159710.2ALAD, FECH
3multicellular organismal iron ion homeostasisGO:006058610.1HAMP, SLC40A1
4response to metal ionGO:001003810.1ALAD, FECH
5response to arsenic-containing substanceGO:004668510.0ALAD, FECH
6transferrin transportGO:00335729.9TFR2, TFRC
7response to lead ionGO:00102889.9ALAD, FECH
8iron ion transportGO:00068269.9SLC40A1, TFR2
9acute-phase responseGO:00069539.8HAMP, TFR2, TFRC
10spleen developmentGO:00485369.7SLC40A1, TET2
11protoporphyrinogen IX biosynthetic processGO:00067829.6ALAD, ALAS1, ALAS2, UROS
12receptor-mediated endocytosisGO:00068989.5HBB, TFR2, TFRC
13response to ethanolGO:00454719.4ALAD, FECH, HAMP
14response to hypoxiaGO:00016669.3ALAD, ALAS2, TFRC
15heme biosynthetic processGO:00067839.2ALAD, ALAS1, ALAS2, FECH, UROS
16iron ion homeostasisGO:00550729.0HFE2, SLC40A1, TFR2
17response to iron ionGO:00100399.0ALAD, HAMP, TFR2, TFRC
18cellular iron ion homeostasisGO:00068797.4ABCB7, ACO1, ALAS2, HAMP, HFE2, SLC40A1

Molecular functions related to Anemia, Sideroblastic, X-Linked according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:000387010.5ALAS1, ALAS2
2transferrin receptor activityGO:000499810.0TFR2, TFRC
3ferrous iron bindingGO:00081989.2FECH, TET2
4glycoprotein bindingGO:00019488.8HFE2, TFR2, TFRC

Sources for Anemia, Sideroblastic, X-Linked

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet