MCID: XLN003
MIFTS: 34

X-Linked Sideroblastic Anemia with Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Blood diseases categories

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 x-linked sideroblastic anemia and ataxia, is related to sideroblastic anemia and ataxia, and has symptoms including nystagmus, anemia and neurological speech impairment. 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.

GeneReviews summary for sider-anemia

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

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

Name: X-Linked Sideroblastic Anemia with Ataxia 9 11 47
X-Linked Sideroblastic Anemia and Ataxia 9 19 20 21
Anemia Sideroblastic and Spinocerebellar Ataxia 9 41 22
Anemia, Sideroblastic, and Spinocerebellar Ataxia 60
 
Sideroblastic Anemia with Spinocerebellar Ataxia 41
Pagon Bird Detter Syndrome 41
Xlsa/a 21
Asat 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
x-linked sideroblastic anemia with ataxia:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:0050554
Orphanet47 2802
ICD10 via Orphanet26 D64.0
UMLS via Orphanet61 C1845028

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:

idRelated DiseaseScoreTop Affiliating Genes
1sideroblastic anemia30.8ABCB7, FXN
2ataxia10.6
3anemia, sideroblastic, with ataxia10.6
4spinocerebellar ataxia10.4
5myocardial infarction10.1
6parkinson disease, late-onset9.9ACO1, FXN
7hemochromatosis9.8ACO1, FXN
8congenital heart disease9.7ABCB7, FXN
9friedreich ataxia9.4ABCB7, 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

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Symptoms:

 47 (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

HPO human phenotypes related to X-Linked Sideroblastic Anemia with Ataxia:

(show all 11)
id Description Frequency HPO Source Accession
1 nystagmus hallmark (90%) HP:0000639
2 anemia hallmark (90%) HP:0001903
3 neurological speech impairment hallmark (90%) HP:0002167
4 incoordination hallmark (90%) HP:0002311
5 hyperreflexia typical (50%) HP:0001347
6 abnormality of movement typical (50%) HP:0100022
7 cognitive impairment typical (50%) HP:0100543
8 strabismus occasional (7.5%) HP:0000486
9 muscular hypotonia occasional (7.5%) HP:0001252
10 intrauterine growth retardation occasional (7.5%) HP:0001511
11 scoliosis occasional (7.5%) HP:0002650

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 Variation 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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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 Suite gene sharing:

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:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards Suite gene sharing:

(show all 14)
idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate439.6ACO1, FXN
2protoporphyrin ix43 24 1211.6FXN, ABCB7
3deferoxamine43 1210.6FXN, ACO1
4sulfur439.5FXN, ACO1
5vitamin-e439.5FXN, ABCB7
6n acetylcysteine439.3FXN, ACO1
7heme28 24 1211.2FXN, ABCB7
8polyacrylamide439.1ACO1, ABCB7
9iron-sulfur439.1FXN, ACO1, ABCB7
10zinc43 2410.0ABCB7, ACO1, FXN
11oxygen43 249.9ABCB7, ACO1, FXN
12atp43 289.9FXN, ACO1, ABCB7
13glucose438.8ABCB7, ACO1, FXN
14iron43 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.0FXN, ACO1, HSCB, ABCB7

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

idNameGO IDScoreTop Affiliating Genes
1cellular iron ion homeostasisGO:00068798.8FXN, ACO1, ABCB7

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet