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Tuberous sclerosis 1
rareAn 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.
- Identifiers
- MONDO:0008612 OMIM:191100
- Causal genes
- TSC1
- Part of
- Tuberous sclerosis
- Also known as
- TSC1 · TSC1 tuberous sclerosis · TSC1-related tuberous sclerosis · tuberous sclerosis caused by mutation in TSC1 · tuberous sclerosis type 1
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