MCID: XLN003
MIFTS: 32

X-Linked Sideroblastic Anemia with Ataxia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

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

Name: X-Linked Sideroblastic Anemia with Ataxia 11 46 13
X-Linked Sideroblastic Anemia and Ataxia 11 22 46 23 24
Anemia Sideroblastic and Spinocerebellar Ataxia 11 46
Anemia, Sideroblastic, and Spinocerebellar Ataxia 66
Sideroblastic Anemia with Spinocerebellar Ataxia 46
 
Anemia, Sideroblastic, Spinocerebellar Ataxia 25
Pagon Bird Detter Syndrome 46
Xlsa-a 46
Xlsa/a 24
Asat 46

Classifications:



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Disease Ontology11 DOID:0050554

Summaries for X-Linked Sideroblastic Anemia with Ataxia

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Genetics Home Reference:24 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 x-linked sideroblastic anemia and ataxia, is related to anemia, sideroblastic, with ataxia and sideroblastic anemia, and has symptoms including clonus, clonus and action tremor. An important gene associated with X-Linked Sideroblastic Anemia with Ataxia is ABCB7 (ATP Binding Cassette Subfamily B Member 7), and among its related pathways are Glyoxylate and dicarboxylate metabolism and Mitochondrial protein import.

Related Diseases for X-Linked Sideroblastic Anemia with Ataxia

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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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UMLS symptoms related to X-Linked Sideroblastic Anemia with Ataxia:


clonus, action tremor, dysdiadochokinesis

Drugs & Therapeutics for X-Linked Sideroblastic Anemia with Ataxia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461

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 Anemia Sideroblastic and Spinocerebellar Ataxia25
2 X-Linked Sideroblastic Anemia and Ataxia23 ABCB7

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

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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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057397.9ABCB7, ACO1, CS, FXN, HSCB, RARS

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

idNameGO IDScoreTop Affiliating Genes
1iron-sulfur cluster assemblyGO:00162269.9FXN, HSCB
2citrate metabolic processGO:00061019.9ACO1, CS
3tricarboxylic acid cycleGO:00060999.7ACO1, CS
4cellular iron ion homeostasisGO:00068799.7ABCB7, ACO1, FXN
5post-embryonic developmentGO:00097919.3ACO1, TET2

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:00426269.7ABCB5, ABCB7
2ferrous iron bindingGO:00081989.3FXN, TET2

Sources for X-Linked Sideroblastic Anemia with Ataxia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet