ASAT
MCID: XLN003
MIFTS: 32

X-Linked Sideroblastic Anemia with Ataxia (ASAT) malady

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

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

Name: X-Linked Sideroblastic Anemia with Ataxia 12 50 14
X-Linked Sideroblastic Anemia and Ataxia 12 23 50 24 25
Anemia Sideroblastic and Spinocerebellar Ataxia 12 50
Anemia, Sideroblastic, and Spinocerebellar Ataxia 69
Sideroblastic Anemia with Spinocerebellar Ataxia 50
Anemia, Sideroblastic, Spinocerebellar Ataxia 29
Pagon Bird Detter Syndrome 50
Xlsa-a 50
Xlsa/a 25
Asat 50

Classifications:



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Disease Ontology 12 DOID:0050554

Summaries for X-Linked Sideroblastic Anemia with Ataxia

Genetics Home Reference : 25 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, action tremor and dysdiadochokinesis. 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/superpathways are Carbon metabolism and Citrate cycle (TCA cycle). Related phenotype is Decreased shRNA abundance (Z-score < -2).

GeneReviews: NBK1321

Related Diseases for X-Linked Sideroblastic Anemia with Ataxia

Graphical network of the top 20 diseases related to X-Linked Sideroblastic Anemia with Ataxia:



Diseases related to X-Linked Sideroblastic Anemia with Ataxia

Symptoms & Phenotypes for X-Linked Sideroblastic Anemia with Ataxia

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


clonus, action tremor, dysdiadochokinesis

GenomeRNAi Phenotypes related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 10.37 ACO1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.37 ABCB5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.37 FXN
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.37 ACO1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.37 RARS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.37 FXN HSCB TTPA RARS ABCB5 ACO1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.37 FXN HSCB TTPA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.37 FXN
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.37 FXN
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 10.37 ABCB5
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.37 HSCB TTPA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 10.37 ABCB5
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.37 RARS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.37 ABCB5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.37 ABCB5
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.37 ACO1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.37 RARS
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.37 HSCB TTPA
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.37 FXN HSCB TTPA ACO1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.1 TTPA FXN HSCB
21 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.1 TTPA HSCB
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.1 FXN

Drugs & Therapeutics for X-Linked Sideroblastic Anemia with Ataxia

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461

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

Genetic Tests for X-Linked Sideroblastic Anemia with Ataxia

Genetic tests related to X-Linked Sideroblastic Anemia with Ataxia:

id Genetic test Affiliating Genes
1 Anemia Sideroblastic and Spinocerebellar Ataxia 29
2 X-Linked Sideroblastic Anemia and Ataxia 24 ABCB7

Anatomical Context for X-Linked Sideroblastic Anemia with Ataxia

Publications for X-Linked Sideroblastic Anemia with Ataxia

Articles related to X-Linked Sideroblastic Anemia with Ataxia:

id Title Authors Year
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

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCB7 NM_004299.4(ABCB7): c.1203T> G (p.Ile401Met) single nucleotide variant Pathogenic rs72554634 GRCh37 Chromosome X, 74291351: 74291351
2 ABCB7 NM_004299.4(ABCB7): c.1300G> A (p.Glu434Lys) single nucleotide variant Pathogenic rs80356714 GRCh37 Chromosome X, 74290268: 74290268
3 ABCB7 NM_004299.4(ABCB7): c.1234G> C (p.Val412Leu) single nucleotide variant Pathogenic rs80356713 GRCh37 Chromosome X, 74290334: 74290334
4 ABCB7 NM_004299.4(ABCB7): c.627A> T (p.Glu209Asp) single nucleotide variant Pathogenic rs515726147 GRCh38 Chromosome X, 75075593: 75075593

Expression for X-Linked Sideroblastic Anemia with Ataxia

Search GEO for disease gene expression data for X-Linked Sideroblastic Anemia with Ataxia.

Pathways for X-Linked Sideroblastic Anemia with Ataxia

GO Terms for X-Linked Sideroblastic Anemia with Ataxia

Cellular components related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.1 ABCB7 ACO1 CS FXN HSCB RARS

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

id Name GO ID Score Top Affiliating Genes
1 post-embryonic development GO:0009791 9.32 ACO1 TET2
2 tricarboxylic acid cycle GO:0006099 9.26 ACO1 CS
3 iron-sulfur cluster assembly GO:0016226 9.16 FXN HSCB
4 citrate metabolic process GO:0006101 8.96 ACO1 CS
5 cellular iron ion homeostasis GO:0006879 8.8 ABCB7 ACO1 FXN

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

id Name GO ID Score Top Affiliating Genes
1 iron-sulfur cluster binding GO:0051536 9.16 ACO1 FXN
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.96 ABCB5 ABCB7
3 ferrous iron binding GO:0008198 8.62 FXN TET2

Sources for X-Linked Sideroblastic Anemia with Ataxia

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9 Cosmic
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11 DGIdb
16 ExPASy
18 FMA
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70 UMLS via Orphanet
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