tuberous sclerosis 2
Findings
No curated finding names tuberous sclerosis 2 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 TSC2 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:0013199), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Second trimester onset
HPO, annotations 2026-09-02
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.
- Absence of renal corticomedullary differentiationHPOHP:0005564
- 1 of 1 reported patient
- Adenoma sebaceumHPOHP:0009720
- 1 of 1 reported patient
- Dental enamel pitsHPOHP:0009722
- 1 of 1 reported patient
- Gingival fibromatosisHPOHP:0000169
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 129 of 130 reported patients
- Hypomelanotic maculeHPOHP:0009719
Show the remaining 11
- Shagreen patchHPOHP:0009721
- 71 of 138 reported patients
- BradycardiaHPOHP:0001662
- 1 of 2 reported patients
- Renal angiomyolipomaHPOHP:0006772
- 4 of 8 reported patients
- Cardiac rhabdomyomaHPOHP:0009729
- 59 of 119 reported patients
- Renal cystHPOHP:0000107
- 54 of 122 reported patients
- AutismHPOHP:0000717
- 32 of 75 reported patients
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.
- TSC2HGNC:12363
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: tuberous sclerosis 2
- Also called
- TSC2-related tuberous sclerosistuberous sclerosis type 2tuberous sclerosis-2