SIDBA1
MCID: ANM029
MIFTS: 48

Anemia, Sideroblastic, X-Linked (SIDBA1) 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 x-linked sideroblastic anemia with ataxia and anemia, sideroblastic, with ataxia, and has symptoms including Array, Array and Array. An important gene associated with Anemia, Sideroblastic, X-Linked is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways are Hfe effect on hepcidin production and Porphyrin and chlorophyll metabolism. 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 phenotype 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 top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked sideroblastic anemia with ataxia12.6
2anemia, sideroblastic, with ataxia11.3
3autosomal recessive sideroblastic anemia11.0
4sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay11.0
5sideroblastic anemia pyridoxine-responsive autosomal recessive11.0
6anemia, hypochromic microcytic, with iron overload 210.9
7anemia, hypochromic microcytic10.9
8atransferrinemia10.9
9thalassemia, hispanic gamma-delta-beta10.9
10benjamin syndrome10.9
11sideroblastic anemia10.7
12ataxia10.4
1316q24.3 microdeletion syndrome10.3ALAS2, FECH
14partial hydatidiform mole10.2ALAS2, SLC25A38
15chronic laryngitis10.1ALAD, HBB
16tmem231-related joubert syndrome10.1HAMP, HBB, TFRC
17crater-like holes of optic disc10.1FECH, UROS
18tmem216-related meckel syndrome10.1HBB, TFRC
19peri-anal fistula10.1ALAS2, SLC25A38
20lymphatic system cancer10.1ALAS2, HBB, TET2
21thalassemia10.1
22von hippel anomaly10.1ALAS2, TET2
23nonsyndromic deafness10.1ABCB7, ACO1, TET2
24macular degeneration, age-related, 710.1ALAD, FECH, UROS
25cat-scratch disease10.0ACO1, ALAS2, HAMP, TFRC
26kaolin pneumoconiosis10.0HBB, SLC40A1, TFRC
27poems syndrome10.0TET2, TFRC
28intestinal impaction10.0HBB, TET2, TFRC
29acanthosis nigricans10.0ALAS1, ALAS2, FECH, UROS
30epileptic encephalopathy, early infantile, 1310.0HAMP, HBB
31palmoplantar keratoderma, nagashima type10.0ALAD, ALAS2, FECH, UROS
32lathosterolosis10.0ALAD, ALAS1, FECH, UROS
33hemochromatosis10.0
34macrocytic anemia10.0
35refractory anemia10.0
36liver lymphoma9.9ABCB7, ALAS1, ALAS2, SLC25A38, YARS2
37ehlers-danlos syndrome, type iv9.9SLC40A1, TFR2
38thalassemia-beta, dominant inclusion-body9.9HBB, TFR2, TFRC
39coronary heart disease 59.9ALAD, ALAS1, ALAS2, FECH, UROS
40intestinal tuberculosis9.9ALAD, ALAS1, ALAS2, FECH, UROS
41irf6-related disorders9.9HFE2, TFR2
42ltbp4-related cutis laxa9.8HAMP, HFE2, TFR2
43tracheal cancer9.8HAMP, HBB, TFR2, TFRC
44blind hypotensive eye9.7HAMP, HFE2, TFR2, TFRC
45posterior uveal melanoma9.7FECH, HAMP, HFE2, TFR2
46mandibuloacral dysplasia with type b lipodystrophy9.6ALAD, FECH, HAMP, HFE2, TFRC, UROS
47glycogen storage disease ixa9.6HAMP, HFE2, SLC40A1, TFR2
48post-thrombotic syndrome9.6HFE2, SLC40A1, TFR2, TFRC
49esophageal leukoplakia9.5HAMP, HFE2, SLC40A1, TFR2, TFRC
50nasu-hakola disease9.4ACO1, HAMP, HFE2, SLC40A1, TFR2, TFRC

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:

 54 64 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glucose intolerance64 54 Occasional (29-5%) HP:0000833
2 hyperpigmentation of the skin64 54 Occasional (29-5%) HP:0000953
3 pallor64 54 Very frequent (99-80%) HP:0000980
4 muscle weakness64 54 Very frequent (99-80%) HP:0001324
5 splenomegaly64 54 Occasional (29-5%) HP:0001744
6 anemia64 54 Very frequent (99-80%) HP:0001903
7 dyspnea64 54 Occasional (29-5%) HP:0002094
8 elevated hepatic transaminases64 54 Occasional (29-5%) HP:0002910
9 abnormality of iron homeostasis64 54 Very frequent (99-80%) HP:0011031
10 fatigue64 54 Very frequent (99-80%) HP:0012378
11 sideroblastic anemia64 HP:0001924
12 macrocytic anemia64 HP:0001972
13 hypochromic microcytic anemia64 HP:0004840

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053706.8ABCB7, FECH, HFE2, SLC40A1, TET2, TFR2

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 Solutions8192

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, Liver, Spleen, Heart

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 15)
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.1570C> G (p.His524Asp)SNVPathogenicrs137852309GRCh37Chr X, 55039949: 55039949
14ALAS2NM_ 000032.4(ALAS2): c.595T> C (p.Tyr199His)SNVPathogenicrs137852310GRCh37Chr X, 55047528: 55047528
15ALAS2NM_ 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:000575910.2ALAS1, ALAS2, FECH, YARS2
2mitochondrial inner membraneGO:00057439.9ABCB7, ALAS2, FECH, SLC25A38
3HFE-transferrin receptor complexGO:19907129.5HFE2, TFR2, TFRC
4mitochondrionGO:00057397.9ABCB7, ACO1, ALAS1, ALAS2, FECH, SLC25A38

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1porphyrin-containing compound metabolic processGO:000677810.6ALAS1, ALAS2
2response to arsenic-containing substanceGO:004668510.4ALAD, FECH
3multicellular organismal iron ion homeostasisGO:006058610.3HAMP, SLC40A1
4response to lead ionGO:001028810.2ALAD, FECH
5response to metal ionGO:001003810.1ALAD, FECH
6response to ethanolGO:004547110.0ALAD, FECH, HAMP
7porphyrin-containing compound biosynthetic processGO:000677910.0ALAD, FECH, UROS
8response to methylmercuryGO:005159710.0ALAD, FECH
9response to platinum ionGO:00705419.9ALAD, FECH
10protoporphyrinogen IX biosynthetic processGO:00067829.9ALAD, ALAS1, ALAS2, UROS
11iron ion transportGO:00068269.7SLC40A1, TFR2
12response to iron ionGO:00100399.5ALAD, HAMP, TFR2
13tetrapyrrole biosynthetic processGO:00330149.3ALAD, ALAS1, ALAS2, UROS
14iron ion homeostasisGO:00550729.1HFE2, SLC40A1, TFR2
15heme biosynthetic processGO:00067839.0ALAD, ALAS1, ALAS2, FECH, SLC25A38, UROS
16cellular 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:000387010.6ALAS1, ALAS2
2ferrous iron bindingGO:000819810.3FECH, TET2
3transferrin receptor activityGO:00049989.4TFR2, TFRC
4glycoprotein bindingGO:00019489.3HFE2, TFR2, TFRC
5lyase activityGO:00168298.9ACO1, ALAD, FECH, UROS

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