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Tuberous sclerosis complex

A multisystem atlas connecting TSC1/TSC2 and mTOR biology with variable manifestations, lifelong surveillance, and targeted care.

tuberous sclerosis · tuberous sclerosis complex · TSC

MONDO:0001734Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 0e9d2951c590

Disease class
Tuberous sclerosis complex is a genetic disorder that can affect multiple organs including the brain, skin, kidneys, heart, and lungs.
Core mechanism
Loss of TSC1 or TSC2 function is associated with dysregulation of the mTOR pathway.
Genes or cause
TSC is autosomal dominant, while about two thirds of diagnosed individuals have a de novo pathogenic variant.
Typical features
Seizures, skin findings, renal angiomyolipomas, and developmental or behavioral concerns can occur in varying combinations.
Variability
Affected organs and severity can vary substantially even within the same family.
Diagnosis
Clinical diagnosis can be established by two major features or one major feature plus at least two minor features.
Management
A pathogenic variant in TSC1 or TSC2 can establish a molecular diagnosis.
Treatment and research
Management requires multidisciplinary coordination across neurologic, renal, dermatologic, cardiac, pulmonary, and ophthalmic care.
Reading evidence
mTOR inhibitors are used when indicated for growing SEGAs, selected renal angiomyolipomas, LAM, and refractory seizures.
Key caution
Seizure care can include vigabatrin, other antiseizure medicines, dietary therapy, and surgery according to clinical context.

For patients and families

A structured guide for understanding the disease and preparing for clinical conversations.

At a glance

Tuberous sclerosis complex is a genetic disorder that can affect multiple organs including the brain, skin, kidneys, heart, and lungs.

Seizures, skin findings, renal angiomyolipomas, and developmental or behavioral concerns can occur in varying combinations.

How the disease works

Loss of TSC1 or TSC2 function is associated with dysregulation of the mTOR pathway.

TSC is autosomal dominant, while about two thirds of diagnosed individuals have a de novo pathogenic variant.

Why experiences vary

Affected organs and severity can vary substantially even within the same family.

Diagnosis and management

Clinical diagnosis can be established by two major features or one major feature plus at least two minor features.

Treatment status

A pathogenic variant in TSC1 or TSC2 can establish a molecular diagnosis.

Management requires multidisciplinary coordination across neurologic, renal, dermatologic, cardiac, pulmonary, and ophthalmic care.

Reading clinical trials

Brain MRI, renal imaging and function, blood pressure, seizure assessment, and TAND screening are repeated at recommended intervals.

Topics for a clinical visit

Clinical discussions should distinguish current organ involvement, surveillance schedule, treatment goals, and implications of genetic counseling and family testing.

Medical notice

This material is for disease education and is not a personal diagnosis or treatment instruction.

Evidence and sources

A trial registry status does not establish efficacy or regulatory approval.