Mitchell syndrome
Findings
No curated finding names Mitchell syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has material basis in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
Definition from the Mondo Disease Ontology (MONDO:0030073), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Absent speechHPOHP:0001344
- Areflexia of lower limbsHPOHP:0002522
- ClumsinessHPOHP:0002312
- DysphagiaHPOHP:0002015
- EncephalopathyHPOHP:0001298
- Gait disturbanceHPOHP:0001288
- Hyporeflexia of upper limbsHPOHP:0012391
Show the remaining 1
- Sensory axonal neuropathyHPOHP:0003390
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.
- ACOX1HGNC:119
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · Natera · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: Mitchell syndrome
- Also called
- ACOX1 upregulationMITCH