MCID: XLN003
MIFTS: 33

X-Linked Sideroblastic Anemia with Ataxia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

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

Name: X-Linked Sideroblastic Anemia with Ataxia 10 45 12 51
X-Linked Sideroblastic Anemia and Ataxia 10 21 45 22 23 51
Sideroblastic Anemia with Spinocerebellar Ataxia 10 45 12
Anemia Sideroblastic and Spinocerebellar Ataxia 10 45
Xlsa-a 45 51
 
Asat 10 45
Anemia, Sideroblastic, and Spinocerebellar Ataxia 65
Anemia, Sideroblastic, Spinocerebellar Ataxia 24
Pagon Bird Detter Syndrome 45
Xlsa/a 23

Characteristics:

Orphanet epidemiological data:

51
x-linked sideroblastic anemia and ataxia:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0050554, DOID:0060064
Orphanet51 2802
ICD10 via Orphanet28 D64.0
UMLS via Orphanet66 C1845028
UMLS65 C1845028

Summaries for X-Linked Sideroblastic Anemia with Ataxia

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Genetics Home Reference:23 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 gastric ulcer, and has symptoms including nystagmus, ataxia/incoordination/trouble of the equilibrium and speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia. 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 Mitochondrial protein import and Sulfur amino acid metabolism. Related mouse phenotype no phenotypic analysis.

GeneReviews summary for NBK1321

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 Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1anemia, sideroblastic, with ataxia11.7
2gastric ulcer10.4
3infertility10.4
4endotheliitis10.4
5atransferrinemia10.0ABCB7, FXN
6optic atrophy 810.0ACO1, ACO2
7protoporphyria, erythropoietic, x-linked9.9ABCB7, ACO1
8cowpox9.9ABCB7, FXN
9gout susceptibility 49.8ACO1, FXN
10bleeding disorder, platelet-type, 199.6ACO1, FXN
11walker-warburg syndrome8.3ABCB7, ACO1, ACO2, CTC1, FXN, GOT1

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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Symptoms:

 51 (show all 12)
  • nystagmus
  • ataxia/incoordination/trouble of the equilibrium
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • anaemia
  • x-linked recessive inheritance
  • movement disorder
  • hypereflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • strabismus/squint
  • scoliosis
  • hypotonia
  • intrauterine growth retardation

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 X-Linked Sideroblastic Anemia and Ataxia22 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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MGI Mouse Phenotypes related to X-Linked Sideroblastic Anemia with Ataxia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.2ACO2, CTC1, FXN, MDH1

Publications for X-Linked Sideroblastic Anemia with Ataxia

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Articles related to X-Linked Sideroblastic Anemia with Ataxia:

idTitleAuthorsYear
1
Inhibition of p38 kinase reveals a TNF-alpha-mediated, caspase-dependent, apoptotic death pathway in a human myelomonocyte cell line. (11359809)
2001
2
Future research needs in the silica, silicosis and cancer field. (8929707)
1995

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

idNameGO IDScoreTop Affiliating Genes
1oxaloacetate metabolic processGO:00061079.2GOT1, MDH1

Sources for X-Linked Sideroblastic Anemia with Ataxia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet