tuberous sclerosis
Findings
No curated finding names tuberous sclerosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.
Definition from the Mondo Disease Ontology (MONDO:0001734), read 2026-09-29. CC BY 4.0.
Features
62 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 the kidneyHPOHP:0000077
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Cortical dysplasiaHPOHP:0002539
- Very frequent (80% to 99% of cases)
- Cortical tubersHPOHP:0009717
- Very frequent (80% to 99% of cases)
- Generalized abnormality of skinHPOHP:0011354
- Very frequent (80% to 99% of cases)
- Hypomelanotic maculeHPOHP:0009719
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Subependymal nodulesHPOHP:0009716
- Very frequent (80% to 99% of cases)
- Abnormal social behaviorHPOHP:0012433
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- AngiofibromasHPOHP:0010615
- Frequent (30% to 79% of cases)
- AutismHPOHP:0000717
- Frequent (30% to 79% of cases)
Show the remaining 50
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- Cardiac rhabdomyomaHPOHP:0009729
- Frequent (30% to 79% of cases)
- Chorioretinal hypopigmentationHPOHP:0040030
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Confetti-like hypopigmented maculesHPOHP:0007449
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
Other names
8 names
Resolves to: tuberous sclerosis
- Also called
- Bourneville diseaseBourneville syndromeBourneville's diseaseBourneville's syndromeepiloiaTSCtuberous sclerosis complextuberous sclerosis syndrome