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

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

Name: Anemia, Sideroblastic, X-Linked 54 66 13
X-Linked Sideroblastic Anemia 12 71 50 24 25 56 14
Xlsa 12 71 50 24 25 56 66
Hypochromic Anemia 12 66 14 69
Hereditary Sideroblastic Anemia 24 66 69
Hereditary Iron-Loading Anemia 50 25 66
Anh1 50 25 66
Erythroid 5-Aminolevulinate Synthase Deficiency 50 25
X Chromosome-Linked Sideroblastic Anemia 50 25
Anemia, Hereditary Sideroblastic 25 29
Congenital Sideroblastic Anemia 50 24
Anemia Hypochromic 12 52
X-Linked Pyridoxine-Responsive Sideroblastic Anemia 25
Anemia, Sex-Linked Hypochromic Sideroblastic 25
Anemia Sex-Linked Hypochromic Sideroblastic 50
Congenital Sideroblastic Anaemia 25
Anemia Hereditary Sideroblastic 50
Anemia Congenital Sideroblastic 52
Sideroblastic Anemia X-Linked 50
Anemia, Sideroblastic, 1 66
Anemia, Hypochromic 42
Sidba1 66

Characteristics:

Orphanet epidemiological data:

56
x-linked sideroblastic anemia
Inheritance: X-linked recessive; Age of onset: All ages;

HPO:

32
anemia, sideroblastic, x-linked:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300751
Disease Ontology 12 DOID:0060063 DOID:11759
ICD10 33 D50 D64.0
NCIt 47 C34380
SNOMED-CT 64 44452003
Orphanet 56 ORPHA75563
MESH via Orphanet 43 C536761
ICD10 via Orphanet 34 D64.0
MedGen 40 C0221018
UMLS 69 C0002884

Summaries for Anemia, Sideroblastic, X-Linked

NIH Rare Diseases : 50 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 fatigue, dyspnea and muscle weakness. An important gene associated with Anemia, Sideroblastic, X-Linked is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Iron metabolism in placenta. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotype is 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 : 54 The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and... (300751) more...

UniProtKB/Swiss-Prot : 66 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

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

(show top 50) (show all 53)
id Related Disease Score Top Affiliating Genes
1 x-linked sideroblastic anemia with ataxia 12.6
2 anemia, sideroblastic, with ataxia 11.3
3 autosomal recessive sideroblastic anemia 11.0
4 sideroblastic anemia pyridoxine-responsive autosomal recessive 11.0
5 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.0
6 anemia, hypochromic microcytic, with iron overload 2 10.9
7 anemia, hypochromic microcytic 10.9
8 benjamin syndrome 10.9
9 atransferrinemia 10.9
10 thalassemia, hispanic gamma-delta-beta 10.9
11 sideroblastic anemia 10.7
12 ataxia 10.4
13 16q24.3 microdeletion syndrome 10.3 ALAS2 FECH
14 partial hydatidiform mole 10.2 ALAS2 SLC25A38
15 chronic laryngitis 10.1 ALAD HBB
16 tmem231-related joubert syndrome 10.1 HAMP HBB TFRC
17 crater-like holes of optic disc 10.1 FECH UROS
18 tmem216-related meckel syndrome 10.1 HBB TFRC
19 peri-anal fistula 10.1 ALAS2 SLC25A38
20 lymphatic system cancer 10.1 ALAS2 HBB TET2
21 thalassemia 10.1
22 von hippel anomaly 10.1 ALAS2 TET2
23 nonsyndromic deafness 10.1 ABCB7 ACO1 TET2
24 macular degeneration, age-related, 7 10.1 ALAD FECH UROS
25 cat-scratch disease 10.0 ACO1 ALAS2 HAMP TFRC
26 kaolin pneumoconiosis 10.0 HBB SLC40A1 TFRC
27 intestinal impaction 10.0 HBB TET2 TFRC
28 poems syndrome 10.0 TET2 TFRC
29 acanthosis nigricans 10.0 ALAS1 ALAS2 FECH UROS
30 epileptic encephalopathy, early infantile, 13 10.0 HAMP HBB
31 palmoplantar keratoderma, nagashima type 10.0 ALAD ALAS2 FECH UROS
32 lathosterolosis 10.0 ALAD ALAS1 FECH UROS
33 hemochromatosis 10.0
34 macrocytic anemia 10.0
35 refractory anemia 10.0
36 liver lymphoma 9.9 ABCB7 ALAS1 ALAS2 SLC25A38 YARS2
37 ehlers-danlos syndrome, type iv 9.9 SLC40A1 TFR2
38 thalassemia-beta, dominant inclusion-body 9.9 HBB TFR2 TFRC
39 coronary heart disease 5 9.9 ALAD ALAS1 ALAS2 FECH UROS
40 intestinal tuberculosis 9.9 ALAD ALAS1 ALAS2 FECH UROS
41 irf6-related disorders 9.9 HFE2 TFR2
42 ltbp4-related cutis laxa 9.8 HAMP HFE2 TFR2
43 tracheal cancer 9.8 HAMP HBB TFR2 TFRC
44 blind hypotensive eye 9.7 HAMP HFE2 TFR2 TFRC
45 posterior uveal melanoma 9.7 FECH HAMP HFE2 TFR2
46 mandibuloacral dysplasia with type b lipodystrophy 9.6 ALAD FECH HAMP HFE2 TFRC UROS
47 glycogen storage disease ixa 9.6 HAMP HFE2 SLC40A1 TFR2
48 post-thrombotic syndrome 9.6 HFE2 SLC40A1 TFR2 TFRC
49 esophageal leukoplakia 9.5 HAMP HFE2 SLC40A1 TFR2 TFRC
50 nasu-hakola disease 9.4 ACO1 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

Symptoms by clinical synopsis from OMIM:

300751

Clinical features from OMIM:

300751

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

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 dyspnea 56 32 Occasional (29-5%) HP:0002094
3 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
4 splenomegaly 56 32 Occasional (29-5%) HP:0001744
5 anemia 56 32 Very frequent (99-80%) HP:0001903
6 pallor 56 32 Very frequent (99-80%) HP:0000980
7 elevated hepatic transaminases 56 32 Occasional (29-5%) HP:0002910
8 abnormality of iron homeostasis 56 32 Very frequent (99-80%) HP:0011031
9 hyperpigmentation of the skin 56 32 Occasional (29-5%) HP:0000953
10 glucose intolerance 56 32 Occasional (29-5%) HP:0000833
11 macrocytic anemia 32 HP:0001972
12 hypochromic microcytic anemia 32 HP:0004840
13 sideroblastic anemia 32 HP:0001924

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.23 ABCB7 FECH HFE2 SLC40A1 TET2 TFR2

Drugs & Therapeutics for Anemia, Sideroblastic, X-Linked

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 Dry Eye Evaluation After Transepithelial PRK Completed NCT02210793
2 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461

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

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: anemia, hypochromic

Genetic Tests for Anemia, Sideroblastic, X-Linked

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

id Genetic test Affiliating Genes
1 Hereditary Sideroblastic Anemia 29 24 YARS2
2 X-Linked Sideroblastic Anemia 24 ALAS2

Anatomical Context for Anemia, Sideroblastic, X-Linked

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

39
Bone, Bone Marrow, Skin, Heart, Liver, Spleen

Publications for Anemia, Sideroblastic, X-Linked

Variations for Anemia, Sideroblastic, X-Linked

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

66 (show all 25)
id Symbol AA change Variation ID SNP ID
1 ALAS2 p.Thr388Ser VAR_000562 rs137852300
2 ALAS2 p.Arg411Cys VAR_000563 rs137852305
3 ALAS2 p.Ile476Asn VAR_000564 rs137852299
4 ALAS2 p.Tyr199His VAR_012334 rs137852310
5 ALAS2 p.Arg204Gln VAR_012335
6 ALAS2 p.Arg448Gln VAR_012336
7 ALAS2 p.Arg452Cys VAR_012337 rs137852311
8 ALAS2 p.Asp159Tyr VAR_018604 rs137852308
9 ALAS2 p.Arg560His VAR_018605
10 ALAS2 p.Lys156Glu VAR_066232
11 ALAS2 p.Arg170His VAR_066233
12 ALAS2 p.Arg218His VAR_066234 rs185504937
13 ALAS2 p.Glu242Lys VAR_066235
14 ALAS2 p.Asp263Asn VAR_066236
15 ALAS2 p.Pro339Leu VAR_066237
16 ALAS2 p.Arg375Cys VAR_066238
17 ALAS2 p.Arg411His VAR_066239
18 ALAS2 p.Arg452Gly VAR_066240
19 ALAS2 p.Arg452His VAR_066241 rs863223904
20 ALAS2 p.Pro520Leu VAR_066242 rs201062903
21 ALAS2 p.Arg572His VAR_066243
22 ALAS2 p.Phe165Leu VAR_072328 rs137852301
23 ALAS2 p.Arg170Cys VAR_072329
24 ALAS2 p.Val301Ala VAR_072330
25 ALAS2 p.Arg517Gly VAR_072331

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

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 ALAS2 NM_000032.4(ALAS2): c.1427T> A (p.Ile476Asn) single nucleotide variant Pathogenic rs137852299 GRCh37 Chromosome X, 55041190: 55041190
2 ALAS2 NM_000032.4(ALAS2): c.1163C> G (p.Thr388Ser) single nucleotide variant Pathogenic rs137852300 GRCh37 Chromosome X, 55042016: 55042016
3 ALAS2 NM_000032.4(ALAS2): c.495C> A (p.Phe165Leu) single nucleotide variant Pathogenic rs137852301 GRCh37 Chromosome X, 55047628: 55047628
4 ALAS2 NM_000032.4(ALAS2): c.871G> A (p.Gly291Ser) single nucleotide variant Pathogenic rs137852302 GRCh37 Chromosome X, 55044051: 55044051
5 ALAS2 NM_000032.4(ALAS2): c.895A> C (p.Lys299Gln) single nucleotide variant Pathogenic rs137852303 GRCh37 Chromosome X, 55044027: 55044027
6 ALAS2 NM_000032.4(ALAS2): c.514G> A (p.Ala172Thr) single nucleotide variant Pathogenic rs137852304 GRCh37 Chromosome X, 55047609: 55047609
7 ALAS2 NM_000032.4(ALAS2): c.569A> T (p.Asp190Val) single nucleotide variant Pathogenic rs28935484 GRCh37 Chromosome X, 55047554: 55047554
8 ALAS2 NM_000032.4(ALAS2): c.1231C> T (p.Arg411Cys) single nucleotide variant Pathogenic rs137852305 GRCh37 Chromosome X, 55041386: 55041386
9 ALAS2 NM_000032.4(ALAS2): c.1702A> G (p.Ser568Gly) single nucleotide variant Pathogenic rs137852306 GRCh37 Chromosome X, 55035675: 55035675
10 ALAS2 NM_000032.4(ALAS2): c.1184G> A (p.Cys395Tyr) single nucleotide variant Pathogenic rs137852307 GRCh37 Chromosome X, 55041433: 55041433
11 ALAS2 NM_000032.4(ALAS2): c.475G> T (p.Asp159Tyr) single nucleotide variant Pathogenic rs137852308 GRCh37 Chromosome X, 55047648: 55047648
12 ALAS2 NM_000032.4(ALAS2): c.475G> A (p.Asp159Asn) single nucleotide variant Pathogenic rs137852308 GRCh37 Chromosome X, 55047648: 55047648
13 ALAS2 NM_000032.4(ALAS2): c.1570C> G (p.His524Asp) single nucleotide variant Pathogenic rs137852309 GRCh37 Chromosome X, 55039949: 55039949
14 ALAS2 NM_000032.4(ALAS2): c.595T> C (p.Tyr199His) single nucleotide variant Pathogenic rs137852310 GRCh37 Chromosome X, 55047528: 55047528
15 ALAS2 NM_000032.4(ALAS2): c.1354C> T (p.Arg452Cys) single nucleotide variant Pathogenic rs137852311 GRCh37 Chromosome X, 55041263: 55041263

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

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264550 X 67700000 76000000 Copy number ABC7 X-linked sideroblastic anemia

Expression for Anemia, Sideroblastic, X-Linked

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

Pathways for Anemia, Sideroblastic, X-Linked

GO Terms for Anemia, Sideroblastic, X-Linked

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.56 ABCB7 ALAS2 FECH SLC25A38
2 mitochondrion GO:0005739 9.56 ABCB7 ACO1 ALAS1 ALAS2 FECH SLC25A38
3 mitochondrial matrix GO:0005759 9.46 ALAS1 ALAS2 FECH YARS2
4 HFE-transferrin receptor complex GO:1990712 8.8 HFE2 TFR2 TFRC

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.72 ALAD FECH HAMP
2 iron ion homeostasis GO:0055072 9.61 HFE2 SLC40A1 TFR2
3 response to metal ion GO:0010038 9.56 ALAD FECH
4 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 ALAD ALAS1 ALAS2 UROS
5 response to lead ion GO:0010288 9.54 ALAD FECH
6 response to iron ion GO:0010039 9.54 ALAD HAMP TFR2
7 iron ion transport GO:0006826 9.52 SLC40A1 TFR2
8 response to arsenic-containing substance GO:0046685 9.51 ALAD FECH
9 porphyrin-containing compound biosynthetic process GO:0006779 9.5 ALAD FECH UROS
10 multicellular organismal iron ion homeostasis GO:0060586 9.49 HAMP SLC40A1
11 response to methylmercury GO:0051597 9.48 ALAD FECH
12 porphyrin-containing compound metabolic process GO:0006778 9.46 ALAS1 ALAS2
13 tetrapyrrole biosynthetic process GO:0033014 9.46 ALAD ALAS1 ALAS2 UROS
14 heme biosynthetic process GO:0006783 9.43 ALAD ALAS1 ALAS2 FECH SLC25A38 UROS
15 response to platinum ion GO:0070541 9.4 ALAD FECH
16 cellular iron ion homeostasis GO:0006879 9.23 ABCB7 ACO1 ALAS2 HAMP HFE2 SLC40A1

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

id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.46 ACO1 ALAD FECH UROS
2 glycoprotein binding GO:0001948 9.43 HFE2 TFR2 TFRC
3 ferrous iron binding GO:0008198 9.32 FECH TET2
4 5-aminolevulinate synthase activity GO:0003870 8.96 ALAS1 ALAS2
5 transferrin receptor activity GO:0004998 8.62 TFR2 TFRC

Sources for Anemia, Sideroblastic, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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