MCID: XLN003
MIFTS: 34

X-Linked Sideroblastic Anemia with Ataxia malady

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

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for X-Linked Sideroblastic Anemia with Ataxia:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology10 DOID:0050554
Orphanet51 2802
ICD10 via Orphanet28 D64.0
UMLS via Orphanet66 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 sideroblastic anemia and ataxia, 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, Sub-Family B (MDR/TAP), Member 7), and among its related pathways are HIF-2-alpha transcription factor network and Glyoxylate and dicarboxylate metabolism.

GeneReviews summary for sider-anemia

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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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
2 Anemia Sideroblastic and Spinocerebellar Ataxia24

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:

5
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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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
1mitochondrial matrixGO:00057599.5ACO2, CS, FXN
2mitochondrionGO:00057397.4ABCB7, ACO1, ACO2, CS, FXN, HSCB

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

idNameGO IDScoreTop Affiliating Genes
1citrate metabolic processGO:000610110.5ACO1, ACO2
2tricarboxylic acid cycleGO:000609910.1ACO1, ACO2, CS
3cellular iron ion homeostasisGO:000687910.0ABCB7, ACO1, FXN
4iron-sulfur cluster assemblyGO:001622610.0FXN, HSCB
5metabolic processGO:00081528.4ABCB7, ABCG4, ACO1, ACO2, DNAH8

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

idNameGO IDScoreTop Affiliating Genes
1aconitate hydratase activityGO:000399410.3ACO1, ACO2
2ferrous iron bindingGO:000819810.1FXN, TET2
34 iron, 4 sulfur cluster bindingGO:00515399.5ACO1, ACO2
4ATPase activityGO:00168879.1ABCB7, ABCG4, DNAH8

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