muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
MONDO:0008023Mondo
Findings
No curated finding names muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.
Definition from the Mondo Disease Ontology (MONDO:0008023), read 2026-09-29. CC BY 4.0.
Features
4 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 retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- Type II diabetes mellitusHPOHP:0005978
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- Also called
- Furukawa-Takagi-Nakao syndrome