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 52 70 12
X-Linked Sideroblastic Anemia 11 71 48 24 25 54 13
Xlsa 11 71 48 24 25 54 70
Hypochromic Anemia 11 70 13 68
Hereditary Sideroblastic Anemia 24 70 68
Hereditary Iron-Loading Anemia 48 25 70
Anh1 48 25 70
Erythroid 5-Aminolevulinate Synthase Deficiency 48 25
X Chromosome-Linked Sideroblastic Anemia 48 25
Anemia, Hereditary Sideroblastic 25 27
Congenital Sideroblastic Anemia 48 24
 
Anemia Hypochromic 11 50
X-Linked Pyridoxine-Responsive Sideroblastic Anemia 25
Anemia, Sex-Linked Hypochromic Sideroblastic 25
Anemia Sex-Linked Hypochromic Sideroblastic 48
Congenital Sideroblastic Anaemia 25
Anemia Congenital Sideroblastic 50
Anemia Hereditary Sideroblastic 48
Sideroblastic Anemia X-Linked 48
Anemia, Sideroblastic, 1 70
Anemia, Hypochromic 39
Sidba1 70

Characteristics:

Orphanet epidemiological data:

54
x-linked sideroblastic anemia:
Inheritance: X-linked recessive; Age of onset: All ages

HPO:

64
anemia, sideroblastic, x-linked:
Inheritance: x-linked recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 300751
Disease Ontology11 DOID:0060063, DOID:11759
ICD1030 D50, D64.0
NCIt45 C34380
SNOMED-CT62 44452003
Orphanet54 ORPHA75563
MESH via Orphanet40 C536761
ICD10 via Orphanet31 D64.0
MedGen37 C0221018

Summaries for Anemia, Sideroblastic, X-Linked

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NIH Rare Diseases:48 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.

UniProtKB/Swiss-Prot:70 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.

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

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 & Phenotypes 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:

 64 54 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001903
2 abnormality of the cardiovascular system64 occasional (7.5%) HP:0001626
3 abnormality of the spleen64 occasional (7.5%) HP:0001743
4 respiratory insufficiency64 occasional (7.5%) HP:0002093
5 type ii diabetes mellitus64 occasional (7.5%) HP:0005978
6 irregular hyperpigmentation64 occasional (7.5%) HP:0007400
7 sideroblastic anemia64 HP:0001924
8 macrocytic anemia64 HP:0001972
9 hypochromic microcytic anemia64 HP:0004840
10 glucose intolerance54 Occasional (29-5%)
11 hyperpigmentation of the skin54 Occasional (29-5%)
12 pallor54 Very frequent (99-80%)
13 muscle weakness54 Very frequent (99-80%)
14 splenomegaly54 Occasional (29-5%)
15 dyspnea54 Occasional (29-5%)
16 elevated hepatic transaminases54 Occasional (29-5%)
17 abnormality of iron homeostasis54 Very frequent (99-80%)
18 fatigue54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Anemia, Sideroblastic, X-Linked according to GeneCards Suite gene sharing:

41
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

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 UMLS68/NDF-RT46:

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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 Anemia27 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:

36
Bone, Bone marrow, Skin, Spleen, Heart, Liver, Eye

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:

70 (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:000575910.1ALAS1, ALAS2, FECH, YARS2
2HFE-transferrin receptor complexGO:19907129.6HFE2, TFR2, TFRC
3basolateral plasma membraneGO:00163239.5HFE2, 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 arsenic-containing substanceGO:004668510.4ALAD, FECH
2response to lead ionGO:001028810.2ALAD, FECH
3multicellular organismal iron ion homeostasisGO:006058610.2HAMP, SLC40A1
4response to metal ionGO:001003810.2ALAD, FECH
5response to methylmercuryGO:005159710.2ALAD, FECH
6response to platinum ionGO:007054110.2ALAD, FECH
7response to hypoxiaGO:000166610.2ALAD, ALAS2, TFRC
8response to ethanolGO:004547110.1ALAD, FECH, HAMP
9acute-phase responseGO:000695310.1HAMP, TFR2, TFRC
10iron ion transportGO:000682610.0SLC40A1, TFR2
11receptor-mediated endocytosisGO:000689810.0HBB, TFR2, TFRC
12protoporphyrinogen IX biosynthetic processGO:00067829.8ALAD, ALAS1, ALAS2, UROS
13spleen developmentGO:00485369.8SLC40A1, TET2
14transferrin transportGO:00335729.7TFR2, TFRC
15response to iron ionGO:00100399.6ALAD, HAMP, TFR2, TFRC
16heme biosynthetic processGO:00067839.4ALAD, ALAS1, ALAS2, FECH, UROS
17iron ion homeostasisGO:00550729.2HFE2, SLC40A1, TFR2
18cellular iron ion homeostasisGO:00068797.7ABCB7, 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
2ferrous iron bindingGO:000819810.0FECH, TET2
3transferrin receptor activityGO:00049989.7TFR2, TFRC
4glycoprotein bindingGO:00019488.7HFE2, TFR2, TFRC

Sources for Anemia, Sideroblastic, X-Linked

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet