X-linked sideroblastic anemia with ataxia
Findings
No curated finding names X-linked sideroblastic anemia with ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
Definition from the Mondo Disease Ontology (MONDO:0010524), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
60 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.
- Abducens palsyHPOHP:0006897
- 1 of 1 reported patient
- Abnormal basal ganglia MRI signal intensityHPOHP:0012751
- 1 of 1 reported patient
- Abnormal brainstem morphologyHPOHP:0002363
- 2 of 2 reported patients
- Abnormality of movementHPOHP:0100022
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- AnisocytosisHPOHP:0011273
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 48
- Cerebellar hypoplasiaHPOHP:0001321
- 7 of 7 reported patients
- ClonusHPOHP:0002169
- 2 of 2 reported patients
- Cognitive impairmentHPOHP:0100543
- 1 of 1 reported patient
- Very rare (1% to 4% of cases)
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Very rare (1% to 4% of cases)
- DementiaHPOHP:0000726
- 1 of 1 reported patient
- DepressionHPOHP:0000716
- 1 of 1 reported patient
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.
- ABCB7HGNC:48
- Definitive · G2P · X-linked · 2015
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Illumina · X-linked · 2018
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
9 names
Resolves to: X-linked sideroblastic anemia with ataxia
- Also called
- anaemia sideroblastic and spinocerebellar ataxiaanemia, sideroblastic, with ataxia, X-linked recessiveASATPagon-Bird-Detter syndromesideroblastic anaemia with spinocerebellar ataxiasideroblastic anemia with spinocerebellar ataxiaX-linked sideroblastic anaemia with spinocerebellar ataxiaX-linked sideroblastic anemia with spinocerebellar ataxiaXLSA-A