ASAT
MCID: XLN003
MIFTS: 34

X-Linked Sideroblastic Anemia with Ataxia (ASAT) malady

Genetic diseases, Rare diseases, Neuronal diseases, Immune diseases categories
Download this MalaCard

Summaries for X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
Genetics Home Reference:21 X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.

MalaCards: X-Linked Sideroblastic Anemia with Ataxia, also known as x-linked sideroblastic anemia and ataxia, is related to sideroblastic anemia and x-linked sideroblastic anemia. An important gene associated with X-Linked Sideroblastic Anemia with Ataxia is ABCB7 (ATP-binding cassette, sub-family B (MDR/TAP), member 7), and among its related pathways are Mitochondrial Protein Import and Metabolism. The drug pegademase bovine and the compounds ferric ammonium citrate and protoporphyrin ix have been mentioned in the context of this disorder.

Description from OMIM:47 301310

GeneReviews summary for sider-anemia

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 62UMLS, 47OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Immune diseases


Aliases & Descriptions:

x-linked sideroblastic anemia with ataxia 8 10
x-linked sideroblastic anemia and ataxia 8 19 20 21
anemia sideroblastic and spinocerebellar ataxia 8 43 22
sideroblastic anemia with spinocerebellar ataxia 43
x-linked severe combined immunodeficiency 62
severe combined immunodeficiency 62
hereditary sideroblastic anemia 62
pagon bird detter syndrome 43
xlsa/a 21
asat 43


External Ids:

Disease Ontology8 DOID:0050554
OMIM47 301310

Related Diseases for X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to X-Linked Sideroblastic Anemia with Ataxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1sideroblastic anemia30.8ABCB7, FXN
2x-linked sideroblastic anemia10.6
3ataxia10.6
4majeed syndrome10.4
5spinocerebellar ataxia10.4
6sideroblastic anemia with spinocerebellar ataxia10.4
7myocardial infarction10.1
8parkinson's disease10.0ACO1, FXN
9hemochromatosis10.0ACO1, FXN
10congenital heart disease9.9ABCB7, FXN
11friedreich ataxia9.9ABCB7, FXN, ACO1, HSCB

Graphical network of diseases related to X-Linked Sideroblastic Anemia with Ataxia:



Diseases related to x-linked sideroblastic anemia with ataxia

Symptoms for X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

301310

Drugs & Therapeutics for X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for X-Linked Sideroblastic Anemia with Ataxia

Search NIH Clinical Center for X-Linked Sideroblastic Anemia with Ataxia

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to X-Linked Sideroblastic Anemia with Ataxia:

id Genetic test Affiliating Genes
1 X-Linked Sideroblastic Anemia and Ataxia20 ABCB7
2 Anemia Sideroblastic and Spinocerebellar Ataxia22

Anatomical Context for X-Linked Sideroblastic Anemia with Ataxia

About this section

Animal Models for X-Linked Sideroblastic Anemia with Ataxia or affiliated genes

About this section

Publications for X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
52PubMed
See all sources

Articles related to X-Linked Sideroblastic Anemia with Ataxia:

idTitleAuthorsYear
1
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. (17192398)
2007
2
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. (11050011)
2000

Variations for X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for X-Linked Sideroblastic Anemia with Ataxia:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1IL2RGNM_000206.2(IL2RG): c.355A> T (p.Lys119Ter)single nucleotide variantPathogenicrs137852507GRCh37Chr X, 70330453: 70330453
2IL2RGNM_000206.2(IL2RG): c.923C> A (p.Ser308Ter)single nucleotide variantPathogenicrs137852509GRCh37Chr X, 70328128: 70328128
3IL2RGNM_000206.2(IL2RG): c.186T> A (p.Cys62Ter)single nucleotide variantPathogenicrs111033619GRCh37Chr X, 70330830: 70330830
4IL2RGNM_000206.2(IL2RG): c.341G> A (p.Gly114Asp)single nucleotide variantPathogenicrs111033620GRCh37Chr X, 70330467: 70330467
5IL2RGNM_000206.2(IL2RG): c.458T> A (p.Ile153Asn)single nucleotide variantPathogenicrs111033621GRCh37Chr X, 70330142: 70330142
6IL2RGNM_000206.2(IL2RG): c.343T> C (p.Cys115Arg)single nucleotide variantPathogenicrs111033622GRCh37Chr X, 70330465: 70330465
7IL2RGNM_000206.2(IL2RG): c.854G> A (p.Arg285Gln)single nucleotide variantPathogenicrs111033617GRCh37Chr X, 70328449: 70328449
8IL2RGNM_000206.2(IL2RG): c.452T> C (p.Leu151Pro)single nucleotide variantPathogenicrs137852511GRCh37Chr X, 70330356: 70330356
9ALAS2NM_000032.4(ALAS2): c.1427T> A (p.Ile476Asn)single nucleotide variantPathogenicrs137852299GRCh37Chr X, 55041190: 55041190
10ALAS2NM_000032.4(ALAS2): c.1163C> G (p.Thr388Ser)single nucleotide variantPathogenicrs137852300GRCh37Chr X, 55042016: 55042016
11ALAS2NM_000032.4(ALAS2): c.495C> A (p.Phe165Leu)single nucleotide variantPathogenicrs137852301GRCh37Chr X, 55047628: 55047628
12ALAS2NM_000032.4(ALAS2): c.871G> A (p.Gly291Ser)single nucleotide variantPathogenicrs137852302GRCh37Chr X, 55044051: 55044051
13ALAS2NM_000032.4(ALAS2): c.1231C> T (p.Arg411Cys)single nucleotide variantPathogenicrs137852305GRCh37Chr X, 55041386: 55041386
14ALAS2NM_000032.4(ALAS2): c.1702A> G (p.Ser568Gly)single nucleotide variantPathogenicrs137852306GRCh37Chr X, 55035675: 55035675
15ALAS2NM_000032.4(ALAS2): c.1184G> A (p.Cys395Tyr)single nucleotide variantPathogenicrs137852307GRCh37Chr X, 55041433: 55041433
16ALAS2NM_000032.4(ALAS2): c.475G> T (p.Asp159Tyr)single nucleotide variantPathogenicrs137852308GRCh37Chr X, 55047648: 55047648
17ALAS2NM_000032.4(ALAS2): c.475G> A (p.Asp159Asn)single nucleotide variantPathogenicrs137852308GRCh37Chr X, 55047648: 55047648
18ALAS2NM_000032.4(ALAS2): c.1570C> G (p.His524Asp)single nucleotide variantPathogenicrs137852309GRCh37Chr X, 55039949: 55039949
19ALAS2NM_000032.4(ALAS2): c.595T> C (p.Tyr199His)single nucleotide variantPathogenicrs137852310GRCh37Chr X, 55047528: 55047528
20ALAS2NM_000032.4(ALAS2): c.1354C> T (p.Arg452Cys)single nucleotide variantPathogenicrs137852311GRCh37Chr X, 55041263: 55041263
21ABCB7NM_004299.4(ABCB7): c.1203T> G (p.Ile401Met)single nucleotide variantPathogenicrs72554634GRCh37Chr X, 74291351: 74291351
22ABCB7NM_004299.4(ABCB7): c.1300G> A (p.Glu434Lys)single nucleotide variantPathogenicrs80356714GRCh37Chr X, 74290268: 74290268
23ABCB7NM_004299.4(ABCB7): c.1234G> C (p.Val412Leu)single nucleotide variantPathogenicrs80356713GRCh37Chr X, 74290334: 74290334
24ABCB7NM_004299.4(ABCB7): c.627A> T (p.Glu209Asp)single nucleotide variantPathogenicrs515726147GRCh38Chr X, 75075593: 75075593
25IL2RGNM_000206.2(IL2RG): c.865C> T (p.Arg289Ter)single nucleotide variantPathogenicrs137852508GRCh37Chr X, 70328186: 70328186

Expression for genes affiliated with X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with X-Linked Sideroblastic Anemia with Ataxia

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

Pathways for genes affiliated with X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
50PathCards, 55Reactome, 30KEGG
See all sources

Pathways related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0FXN, HSCB
2
Show member pathways
8.8FXN, ACO1, ABCB7

Compounds for genes affiliated with X-Linked Sideroblastic Anemia with Ataxia

About this section
Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
See all sources

Compounds related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate459.6FXN, ACO1
2protoporphyrin ix45 24 1111.6FXN, ABCB7
3deferoxamine45 1110.6FXN, ACO1
4sulfur459.5FXN, ACO1
5vitamin-e459.5ABCB7, FXN
6n acetylcysteine459.3FXN, ACO1
7heme29 24 1111.2FXN, ABCB7
8polyacrylamide459.1ABCB7, ACO1
9iron-sulfur459.1ACO1, ABCB7, FXN
10zinc45 2410.0ABCB7, ACO1, FXN
11oxygen45 249.9FXN, ACO1, ABCB7
12atp45 299.9FXN, ACO1, ABCB7
13glucose458.8ABCB7, ACO1, FXN
14iron45 249.3ACO1, HSCB, FXN, ABCB7

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

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.0FXN, ACO1, HSCB, ABCB7

Biological processes related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular iron ion homeostasisGO:0068798.8FXN, ACO1, ABCB7

Products for genes affiliated with X-Linked Sideroblastic Anemia with Ataxia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Sideroblastic Anemia with Ataxia

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet