X-linked sideroblastic anemia 1
MONDO:0020721Mondo
Findings
No curated finding names X-linked sideroblastic anemia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anemia of inadequate productionHPOHP:0010972
- 1 of 1 reported patient
- Anemic pallorHPOHP:0001017
- 1 of 1 reported patient
- AstheniaHPOHP:0025406
- 1 of 1 reported patient
- Hypochromic microcytic anemiaHPOHP:0004840
- 1 of 1 reported patient · Male
- Sideroblastic anemiaHPOHP:0001924
- 1 of 1 reported patient
- Abnormality of iron homeostasisHPOHP:0011031
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- PallorHPOHP:0000980
- Very frequent (80% to 99% of cases)
- DyspneaHPOHP:0002094
- Occasional (5% to 29% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Occasional (5% to 29% of cases)
Show the remaining 3
- Glucose intoleranceHPOHP:0001952
- Occasional (5% to 29% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Occasional (5% to 29% of cases)
- SplenomegalyHPOHP:0001744
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALAS2HGNC:397
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
4 names
Resolves to: X-linked sideroblastic anemia 1
- Also called
- anemia, sideroblastic, 1, X-linked recessivesideroblastic anemia, X-linkedX-linked sideroblastic anemiaXLSA