MCID: XLN003
MIFTS: 36

X-Linked Sideroblastic Anemia with Ataxia

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

MalaCards integrated aliases 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
Sideroblastic Anemia with Spinocerebellar Ataxia 12 50 14
Anemia Sideroblastic and Spinocerebellar Ataxia 12 50 29
Asat 12 50
Anemia, Sideroblastic, and Spinocerebellar Ataxia 69
Pagon Bird Detter Syndrome 50
Pagon-Bird-Detter Syndrome 50
Xlsa-a 50
Xlsa/a 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050554 DOID:0060064

Summaries for X-Linked Sideroblastic Anemia with Ataxia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2802disease definitionx-linked sideroblastic anemia and ataxia (xlsa-a) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.epidemiologythe prevalence is unknown. only 10 genetically confirmed patients have been reported to date.clinical descriptionxlsa-a usually presents before the age of 3 years. anemia is usually asymptomatic. in males, spinocerebellar symptoms are apparent in childhood and can include delayed walking, predominantly truncal ataxia, dysmetria and dysdiadochokinesis. dysarthria and intention tremor are sometimes present. ataxia may improve over time, but in the fifth to sixth decade of life a slow deterioration of walking is noted. upper motor neuron signs in the legs such as equivocal or extensor plantar responses, brisk deep tendon reflexes and unsustained ankle clonus are sometimes present. strabismus, as well as mild learning disability and depression, have also been reported in some, but intellectual abilities are generally within the normal range. hepatic and systemic iron overload does not occur. females are clinically asymptomatic.etiologyxlsa-a is caused by mutations in the abcb7 gene (xq13.3), encoding a mitochondrial atp-binding cassette (abc) transporter protein, which plays a role in heme production and iron homeostasis. a mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. the abcb7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia.diagnostic methodsdiagnosis is based on the presence of characteristic neurological and blood test findings. mild to moderate hypochromic, microcytic anemia is noted in all males and both whole blood total erythrocyte protoporphyrin (tep) and zinc erythrocyte protoporphyrin (znep) are elevated. bone marrow examination demonstrates the presence of increased iron stores with ring sideroblasts and peripheral blood smear reveals pappenheimer bodies. in the majority of cases magnetic resonance imaging (mri) shows cerebellar atrophy/hypoplasia. female carriers display hematological abnormalities. molecular genetic testing identifies a abcb7 gene mutation, confirming the diagnosis.differential diagnosisthe main differential diagnosis includes other forms/causes of ataxia that typically present before the age of 3 years such as ataxia-telangiectasia, infantile-onset spinocerebellar ataxia, congenital disorder of glycosylation, and cerebellar malformations (e.g. dandy-walker malformation) (see these terms). ataxia with vitamin e deficiency, friedreich ataxia, ataxia - oculomotor apraxia type 1 and 2, and x linked sideroblastic anemia (see these terms), the most common form of congenital sideroblastic anemia (without ataxia), should also be excluded.antenatal diagnosisprenatal testing is possible in families with a known abcb7 mutation.genetic counselingxlsa-a is inherited in an x-linked recessive manner and genetic counseling is possible. males who inherit the mutation from their mother will be affected while females who inherit the mutation from their father or mother will be carriers and are clinically asymptomatic.management and treatmentthere is no cure for xlsa-a and treatment is symptomatic. anemia does not require treatment. early physical therapy may aid in the acquisition of gross motor skills. ankle fixation orthoses and walkers may be required to aid with mobility. weighted eating utensils promote independent skills in children. speech therapy is recommended for those with dysarthria. crutches or a wheelchair may be needed by some patients.prognosiswhile prognosis information is limited due to very few existing reports, xlsa-a does not appear to have a significant impact on life expectancy. quality of life, however, can be significantly affected.visit the orphanet disease page for more resources. last updated: 3/10/2015

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 Sulfur amino acid metabolism. Affiliated tissues include testes, bone and whole blood, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and homeostasis/metabolism

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.

GeneReviews: NBK1321

Related Diseases for X-Linked Sideroblastic Anemia with Ataxia

Diseases related to X-Linked Sideroblastic Anemia with Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, with ataxia 11.2
2 sideroblastic anemia 10.2
3 ataxia 10.2
4 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0 ABCB7 FXN
5 eyelid degenerative disease 10.0 ABCB7 MDH2
6 deafness, autosomal recessive 7 9.9 ACO1 FXN
7 aarskog-scott syndrome 9.7 ABCB7 ACO1
8 lennox-gastaut syndrome 7.2 ABCB7 ACO1 CTC1 FXN MDH1 MDH2

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-142 9.55 ABCB7
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.55 ABCB7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.55 SKI MDH1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.55 MDH1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.55 MDH1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.55 ABCB7
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.55 MDH1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.55 MDH1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.55 ABCB7
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.55 ABCB7
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.55 MDH1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.55 ABCB7 MDH1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.55 SKI ABCB7 MDH1

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 ABCB7 ACO1 CTC1 FXN MDH1 SKI
2 mortality/aging MP:0010768 9.1 ABCB7 ACO1 CTC1 FXN MDH1 SKI

Drugs & Therapeutics for X-Linked Sideroblastic Anemia with Ataxia

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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

MalaCards organs/tissues related to X-Linked Sideroblastic Anemia with Ataxia:

39
Testes, Bone, Whole Blood, Bone Marrow, Cerebellum

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_004299.5(ABCB7): c.1203T> G (p.Ile401Met) single nucleotide variant Pathogenic rs72554634 GRCh37 Chromosome X, 74291351: 74291351
2 ABCB7 NM_004299.5(ABCB7): c.1300G> A (p.Glu434Lys) single nucleotide variant Pathogenic rs80356714 GRCh37 Chromosome X, 74290268: 74290268
3 ABCB7 NM_004299.5(ABCB7): c.1234G> C (p.Val412Leu) single nucleotide variant Pathogenic rs80356713 GRCh37 Chromosome X, 74290334: 74290334
4 ABCB7 NM_004299.5(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 9.02 ABCB7 ACO1 FXN MDH1 MDH2

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 gluconeogenesis GO:0006094 9.43 MDH1 MDH2
2 aerobic respiration GO:0009060 9.4 FXN MDH2
3 carboxylic acid metabolic process GO:0019752 9.37 MDH1 MDH2
4 oxaloacetate metabolic process GO:0006107 9.32 MDH1 MDH2
5 NADH metabolic process GO:0006734 9.26 MDH1 MDH2
6 malate metabolic process GO:0006108 9.16 MDH1 MDH2
7 cellular iron ion homeostasis GO:0006879 9.13 ABCB7 ACO1 FXN
8 tricarboxylic acid cycle GO:0006099 8.8 ACO1 MDH1 MDH2

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 oxidoreductase activity GO:0016491 9.5 FXN MDH1 MDH2
2 iron-sulfur cluster binding GO:0051536 9.26 ACO1 FXN
3 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.16 MDH1 MDH2
4 malate dehydrogenase activity GO:0016615 8.96 MDH1 MDH2
5 L-malate dehydrogenase activity GO:0030060 8.62 MDH1 MDH2

Sources for X-Linked Sideroblastic Anemia with Ataxia

3 CDC
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70 UMLS via Orphanet
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