proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
Findings
No curated finding names proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.
Definition from the Mondo Disease Ontology (MONDO:0010798), read 2026-09-29. CC BY 4.0.
- Inheritance
- Mitochondrial inheritance
- Onset and course
- Infantile onset · Death in childhood · Death in adolescence
HPO, annotations 2026-09-02
Features
21 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.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- BlindnessHPOHP:0000618
- 1 of 1 reported patient
- DehydrationHPOHP:0001944
- 2 of 2 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
Where it sits
- A kind of