ASAT
MCID: XLN003
MIFTS: 38

X-Linked Sideroblastic Anemia with Ataxia (ASAT) malady

Immune diseases category

Summaries for X-Linked Sideroblastic Anemia with Ataxia

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46OMIM, 19GeneReviews, 32MalaCards
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MalaCards: X-Linked Sideroblastic Anemia with Ataxia, also known as x-linked sideroblastic anemia and ataxia, is related to x-linked sideroblastic anemia and 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 5-aminolevulinic acid have been mentioned in the context of this disorder.

Description from OMIM:46 301310

GeneReviews summary for sider-anemia

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

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Sources:
42NIH Rare Diseases, 8Disease Ontology, 10DISEASES, 22GTR, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 60UMLS, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: 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 42 22
sideroblastic anemia with spinocerebellar ataxia 42
x-linked severe combined immunodeficiency 60
severe combined immunodeficiency 60
hereditary sideroblastic anemia 60
pagon bird detter syndrome 42
xlsa/a 21
asat 42


External Ids:

Disease Ontology8 DOID:0050554
OMIM46 301310

Related Diseases for X-Linked Sideroblastic Anemia with Ataxia

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17GeneCards, 18GeneDecks
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Diseases related to X-Linked Sideroblastic Anemia with Ataxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked sideroblastic anemia30.8ALAS2, ABCB7
2sideroblastic anemia30.8ABCB7, FXN, ALAS2
3spinocerebellar ataxia30.5ABCB7
4deficiency anemia30.2ALAS2, ABCB7
5severe combined immunodeficiency11.3
6adenosine deaminase deficiency11.0
7gamma chain deficiency10.9
8sideroblastic anemia with spinocerebellar ataxia10.6
9obesity10.6
10x-linked disease10.6
11zap70-related severe combined immunodeficiency10.5
12achondroplasia and severe combined immunodeficiency10.5
13t cell deficiency10.5
14severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive10.5
15prostatitis10.5
16thyroiditis10.5
17severe combined immunodeficiency, athabascan type10.5
18lung cancer10.4
19graft versus host disease10.4
20reticular dysgenesis10.4
21severe combined immunodeficiency with sensitivity to ionizing radiation10.4
22hepatitis10.4
23lymphopenia10.4
24myeloma10.4
25severe combined immunodeficiency, b cell-negative10.4
26severe combined immunodeficiency due to lck deficiency10.4
27arthritis10.3
28prostate cancer10.3
29severe combined immunodeficiency, atypical10.3
30immunodeficiency 810.3
31severe combined immunodeficiency due to dna-pkcs deficiency10.3
32digeorge syndrome10.3
33agammaglobulinemia10.3
34herpes simplex10.3
35hodgkin's lymphoma10.3
36multiple myeloma10.3
37rheumatoid arthritis10.3
38severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.3
39immunodeficiency 1110.3
40scid, autosomal recessive, t-negative/b-positive type10.3
41acute monocytic leukemia10.2
42omenn syndrome10.2
43acute leukemia10.2
44combined t cell and b cell immunodeficiency10.2
45leukemia10.2
46monocytic leukemia10.2
47pneumonia10.2
48lymphoproliferative disease, x-linked10.2
49pyridoxine-refractory autosomal recessive sideroblastic anemia10.2
50hypochromic anemia10.2

Graphical network of the top 20 diseases related to X-Linked Sideroblastic Anemia with Ataxia:



Diseases related to x-linked sideroblastic anemia with ataxia

Clinical Features for X-Linked Sideroblastic Anemia with Ataxia

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46OMIM
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Clinical features from OMIM:

301310

Drugs & Therapeutics for X-Linked Sideroblastic Anemia with Ataxia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for X-Linked Sideroblastic Anemia with Ataxia

Drug clinical trials:

Search ClinicalTrials for X-Linked Sideroblastic Anemia with Ataxia

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

Search CenterWatch for X-Linked Sideroblastic Anemia with Ataxia

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for X-Linked Sideroblastic Anemia with Ataxia

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20GeneTests, 22GTR
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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

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

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Publications for X-Linked Sideroblastic Anemia with Ataxia

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50PubMed
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Articles related to X-Linked Sideroblastic Anemia with Ataxia:

idTitleAuthorsYear
1
X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation. (22398176)
2012
2
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. (17192398)
2007
3
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. (11050011)
2000
4
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. (9621516)
1998

Genetic Variations for X-Linked Sideroblastic Anemia with Ataxia

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 29KEGG
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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
Hide members
8.4ALAS2, ACO1, FXN, ABCB7

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

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate449.6ACO1, FXN
25-aminolevulinic acid44 2410.6ALAS2, ACO1
3polyacrylamide449.5ACO1, ABCB7
4deferoxamine44 1110.4ACO1, FXN
5vitamin-e449.4FXN, ABCB7
6sulfur449.4FXN, ACO1
7chloride449.2ALAS2, ABCB7
8protoporphyrin ix44 11 2411.1ABCB7, FXN, ALAS2
9heme28 11 2411.1ALAS2, FXN, ABCB7
10glucose448.8ABCB7, FXN, ACO1
11iron-sulfur448.6ALAS2, ACO1, FXN, ABCB7
12zinc44 249.6ABCB7, FXN, ACO1, ALAS2
13oxygen44 249.6ABCB7, FXN, ACO1, ALAS2
14atp44 289.5ABCB7, FXN, ACO1, ALAS2
15iron44 248.8HSCB, ABCB7, FXN, ACO1, ALAS2

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

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16Gene Ontology
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Cellular components related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.3ALAS2, FXN
2mitochondrionGO:0057397.2ALAS2, ACO1, FXN, ABCB7, HSCB

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

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:0067839.3ALAS2, FXN
2cellular iron ion homeostasisGO:0068798.1ALAS2, ACO1, FXN, ABCB7

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Sideroblastic Anemia with Ataxia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet