ASAT
MCID: XLN003
MIFTS: 35

X-Linked Sideroblastic Anemia with Ataxia (ASAT) malady

Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases categories
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Summaries for X-Linked Sideroblastic Anemia with Ataxia

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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 based summary: X-Linked Sideroblastic Anemia with Ataxia, also known as sideroblastic anemia with spinocerebellar 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 compounds ferric ammonium citrate and protoporphyrin ix have been mentioned in the context of this disorder.

Descriptions from OMIM:46 301310,310310

GeneReviews summary for sider-anemia

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

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X-Linked Sideroblastic Anemia with Ataxia, Aliases & Descriptions:

Name: X-Linked Sideroblastic Anemia with Ataxia 8 10
Sideroblastic Anemia with Spinocerebellar Ataxia 8 42 22 62
X-Linked Sideroblastic Anemia and Ataxia 8 19 20 21
Anemia Sideroblastic and Spinocerebellar Ataxia 8 42
Pagon Bird Detter Syndrome 42 62
 
Asat 8 42
Anemia, Sideroblastic, and Spinocerebellar Ataxia 62
Hereditary Sideroblastic Anemia 62
Xlsa/a 21


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050554, DOID:0060064

Related Diseases for X-Linked Sideroblastic Anemia with Ataxia

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

idRelated DiseaseScoreTop Affiliating Genes
1sideroblastic anemia30.8FXN, ABCB7
2x-linked sideroblastic anemia10.6
3ataxia10.6
4majeed syndrome10.4
5spinocerebellar ataxia10.4
6myocardial infarction10.1
7parkinson's disease9.9FXN, ACO1
8hemochromatosis9.8FXN, ACO1
9congenital heart disease9.8ABCB7, FXN
10friedreich ataxia9.4ABCB7, HSCB, ACO1, FXN

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

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Clinical features from OMIM:

301310,310310

Drugs & Therapeutics for X-Linked Sideroblastic Anemia with Ataxia

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Drug clinical trials:

Search ClinicalTrials for X-Linked Sideroblastic Anemia with Ataxia

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

Genetic Tests for X-Linked Sideroblastic Anemia with Ataxia

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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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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

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

6
id Gene Name Type Significance SNP ID Assembly Location
1ABCB7NM_004299.4(ABCB7): c.1203T> G (p.Ile401Met)single nucleotide variantPathogenicrs72554634GRCh37Chr X, 74291351: 74291351
2ABCB7NM_004299.4(ABCB7): c.1300G> A (p.Glu434Lys)single nucleotide variantPathogenicrs80356714GRCh37Chr X, 74290268: 74290268
3ABCB7NM_004299.4(ABCB7): c.1234G> C (p.Val412Leu)single nucleotide variantPathogenicrs80356713GRCh37Chr X, 74290334: 74290334
4ABCB7NM_004299.4(ABCB7): c.627A> T (p.Glu209Asp)single nucleotide variantPathogenicrs515726147GRCh38Chr X, 75075593: 75075593

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

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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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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

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
See all sources

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

(show all 14)
idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate449.6ACO1, FXN
2protoporphyrin ix44 24 1111.6FXN, ABCB7
3deferoxamine44 1110.6FXN, ACO1
4sulfur449.5FXN, ACO1
5vitamin-e449.5FXN, ABCB7
6n acetylcysteine449.3FXN, ACO1
7heme28 24 1111.2FXN, ABCB7
8polyacrylamide449.1ACO1, ABCB7
9iron-sulfur449.1FXN, ACO1, ABCB7
10zinc44 2410.0ABCB7, ACO1, FXN
11oxygen44 249.9ABCB7, ACO1, FXN
12atp44 289.9FXN, ACO1, ABCB7
13glucose448.8ABCB7, ACO1, FXN
14iron44 249.3FXN, ACO1, HSCB, ABCB7

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

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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

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet