ASAT
MCID: XLN003
MIFTS: 34

X-Linked Sideroblastic Anemia with Ataxia (ASAT) malady

Immune category

Summaries for X-Linked Sideroblastic Anemia with Ataxia

Sources:
47OMIM, 19GeneReviews, 33MalaCards
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MalaCards: X-Linked Sideroblastic Anemia with Ataxia, also known as x-linked sideroblastic anemia and ataxia, is related to x-linked sideroblastic anemia and spinocerebellar ataxia. 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 drug pegademase bovine and the compounds ferric ammonium citrate and 5-aminolevulinic acid have been mentioned in the context of this disorder.

Description from OMIM:47 301310

GeneReviews summary for sider-anemia

Aliases & Classifications for X-Linked Sideroblastic Anemia with Ataxia

Sources:
43NIH Rare Diseases, 8Disease Ontology, 10DISEASES, 22GTR, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 61UMLS, 47OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune


Aliases & Descriptions:

x-linked sideroblastic anemia with ataxia 8 10
x-linked sideroblastic anemia and ataxia 8 19 20 21
anemia sideroblastic and spinocerebellar ataxia 8 43 22
sideroblastic anemia with spinocerebellar ataxia 43
x-linked severe combined immunodeficiency 61
severe combined immunodeficiency 61
hereditary sideroblastic anemia 61
pagon bird detter syndrome 43
scid, x-linked 19
x-scid 19
xlsa/a 21
scidx1 19
asat 43


External Ids:

Disease Ontology8 DOID:0050554
OMIM47 301310

Related Diseases for X-Linked Sideroblastic Anemia with Ataxia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to X-Linked Sideroblastic Anemia with Ataxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked sideroblastic anemia30.8ALAS2, ABCB7
2spinocerebellar ataxia30.6ABCB7
3deficiency anemia30.3ALAS2, ABCB7
4gamma chain deficiency10.9
5adenosine deaminase deficiency10.9
6hematopoietic stem cell transplantation10.7
7zap70-related severe combined immunodeficiency10.6
8ataxia10.6
9achondroplasia and severe combined immunodeficiency10.6
10sideroblastic anemia with spinocerebellar ataxia10.5
11severe combined immunodeficiency, atypical10.5
12severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive10.5
13graft versus host disease10.4
14b cell deficiency10.4
15severe combined immunodeficiency with sensitivity to ionizing radiation10.4
16severe combined immunodeficiency, athabascan type10.4
17reticular dysgenesis10.4
18arthritis10.3
19t cell deficiency10.3
20severe combined immunodeficiency, b cell-negative10.3
21severe combined immunodeficiency due to lck deficiency10.3
22digeorge syndrome10.3
23n syndrome10.3
24agammaglobulinemia10.3
25severe combined immunodeficiency due to dna-pkcs deficiency10.3
26acute monocytic leukemia10.3
27omenn syndrome10.3
28mu chain disease10.3
29acute leukemia10.3
30short stature10.3
31immunodeficiency 810.3
32pyridoxine-refractory autosomal recessive sideroblastic anemia10.2
33hypochromic anemia10.2
34multiple intestinal atresia10.2
35hepatitis c10.2
36trachoma10.2
37cd3zeta deficiency10.2
38cd3delta deficiency10.2
39t lymphocyte deficiency10.2
40autoimmune hemolytic anemia10.2
41burkitt's lymphoma10.2
42hypersplenism10.2
43mhc class ii deficiency10.2
44purine nucleoside phosphorylase deficiency10.2
45graves' disease10.2
46t-cell leukemia10.2
47thyroiditis10.2
48tuberculosis10.2
49autoimmune myocarditis10.2
50bare lymphocyte syndrome10.2

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



Diseases related to x-linked sideroblastic anemia with ataxia

Clinical Features for X-Linked Sideroblastic Anemia with Ataxia

Sources:
47OMIM
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Clinical features from OMIM:

301310

Drugs & Therapeutics for X-Linked Sideroblastic Anemia with Ataxia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for X-Linked Sideroblastic Anemia with Ataxia

Drug clinical trials:

Search ClinicalTrials for X-Linked Sideroblastic Anemia with Ataxia

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

Search CenterWatch for X-Linked Sideroblastic Anemia with Ataxia

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for X-Linked Sideroblastic Anemia with Ataxia

Sources:
20GeneTests, 22GTR
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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

Animal Models for X-Linked Sideroblastic Anemia with Ataxia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for X-Linked Sideroblastic Anemia with Ataxia

Genetic Variations for X-Linked Sideroblastic Anemia with Ataxia

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with X-Linked Sideroblastic Anemia with Ataxia

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

Sources:
54Reactome, 30KEGG
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Pathways related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0FXN, HSCB
2
Hide members
8.4ALAS2, ACO1, FXN, ABCB7

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

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
See all sources

Compounds related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate459.6ACO1, FXN
25-aminolevulinic acid45 2410.6ALAS2, ACO1
3polyacrylamide459.5ACO1, ABCB7
4deferoxamine45 1110.4ACO1, FXN
5vitamin-e459.4FXN, ABCB7
6sulfur459.4FXN, ACO1
7chloride459.2ALAS2, ABCB7
8protoporphyrin ix45 11 2411.1ABCB7, FXN, ALAS2
9heme29 11 2411.1ALAS2, FXN, ABCB7
10glucose458.8ABCB7, FXN, ACO1
11iron-sulfur458.6ALAS2, ACO1, FXN, ABCB7
12zinc45 249.6ABCB7, FXN, ACO1, ALAS2
13oxygen45 249.6ABCB7, FXN, ACO1, ALAS2
14atp45 299.5ABCB7, FXN, ACO1, ALAS2
15iron45 248.8HSCB, ABCB7, FXN, ACO1, ALAS2

GO Terms for genes affiliated with X-Linked Sideroblastic Anemia with Ataxia

Sources:
16Gene Ontology
See all sources

Cellular components related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.3ALAS2, FXN
2mitochondrionGO:0057397.2ALAS2, ACO1, FXN, ABCB7, HSCB

Biological processes related to X-Linked Sideroblastic Anemia with Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:0067839.3ALAS2, FXN
2cellular iron ion homeostasisGO:0068798.1ALAS2, ACO1, FXN, ABCB7

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Sideroblastic Anemia with Ataxia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet