atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Findings
No curated finding names atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
Definition from the Mondo Disease Ontology (MONDO:0008843), read 2026-09-29. CC BY 4.0.
Features
23 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.
- Abnormality of mitochondrial metabolismHPOHP:0003287
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Cerebral artery atherosclerosisHPOHP:0007201
- Very frequent (80% to 99% of cases)
- Coronary artery atherosclerosisHPOHP:0001677
- Very frequent (80% to 99% of cases)
- Photosensitive myoclonic seizureHPOHP:0001327
- Very frequent (80% to 99% of cases)
- Progressive neurologic deteriorationHPOHP:0002344
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HyperlordosisHPOHP:0003307
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Also called
- Feigenbaum-Bergeron-Richardson syndrome