Anemia, Sideroblastic, 1 (SIDBA1)

Alias:
Xlsa
X-Linked Sideroblastic Anemia
Hypochromic Anemia
Anemia, Hereditary Sideroblastic
Anemia, Sideroblastic, X-Linked
Hereditary Sideroblastic Anemia
Hereditary Iron-Loading Anemia
Anh1
Sideroblastic Anemia 1
Anemia, Hypochromic
Anemia Hypochromic
Sidba1
X-Linked Pyridoxine-Responsive Sideroblastic Anemia
Erythroid 5-Aminolevulinate Synthase Deficiency
Anemia, Sex-Linked Hypochromic Sideroblastic
Sex-Linked Hypochromic Sideroblastic Anaemia
Autosomal Recessive Sideroblastic Anaemia
X Chromosome-Linked Sideroblastic Anemia
Familial Sex Linked Hypochromic Anaemia
Congenital Sideroblastic Anaemia
Anemia Congenital Sideroblastic
X-Linked Sideroblastic Anemia 1
X-Linked Sideroblastic Anaemia
Anemia, Sideroblastic, Type 1
Sideroblastic Anaemia 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Anemia, Sideroblastic, 1, also known as xlsa, is related to hypochromic microcytic anemia and atransferrinemia. An important gene associated with Anemia, Sideroblastic, 1 is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Fludarabine and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and liver, and related phenotypes are muscle weakness and fatigue
Related ID:
MESH:D000747
ICD11:1090108163

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
All ages
--
37
279
45

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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