tuberous sclerosis 1
Findings
No curated finding names tuberous sclerosis 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant syndrome caused by pathogenic variants in the TSC1 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.
Definition from the Mondo Disease Ontology (MONDO:0008612), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
15 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.
- AngiofibromasHPOHP:0010615
- 4 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 4 of 5 reported patients
- Cortical tubersHPOHP:0009717
- 4 of 5 reported patients
- Renal angiomyolipomaHPOHP:0006772
- 12 of 15 reported patients
- SeizureHPOHP:0001250
- 4 of 5 reported patients
- Hypomelanotic maculeHPOHP:0009719
- 2 of 5 reported patients
- Pulmonary lymphangiomyomatosisHPOHP:0012798
Show the remaining 3
- Retinal hamartomaHPOHP:0009594
- 0 of 5 reported patients
- Epileptic spasmHPOHP:0011097
- HemimegalencephalyHPOHP:0007206
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.
- TSC1HGNC:12362
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
5 names
Resolves to: tuberous sclerosis 1
- Also called
- TSC1 tuberous sclerosisTSC1-related tuberous sclerosistuberous sclerosis caused by mutation in TSC1tuberous sclerosis type 1tuberous sclerosis-1