DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Tuberous Sclerosis Complex

MODERATE

An autosomal dominant disorder caused by TSC1 or TSC2 mutations affecting tumor suppressor genes. Characterized by benign tumors (hamartomas) in multiple organs including brain, skin, kidneys, heart, and lungs.

Global Affected

2.0M

Countries

15

Symptoms

Seizures
Intellectual disability
Autism
Facial angiofibromas
Hypomelanotic macules
Kidney tumors
Cardiac rhabdomyomas
Lymphangioleiomyomatosis (LAM)

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Variable by organ involvement. CNS tumors affect development. Renal angiomyolipomas may hemorrhage. Everolimus for approved indications. Regular surveillance essential.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

mTOR inhibitors (everolimus, sirolimus) FDA-approved for subependymal giant cell astrocytomas, renal angiomyolipomas, and LAM. Seizure management. Regular surveillance for complications.

Affected Countries

AustraliaBrazilCanadaChinaGermanySpainFranceUnited KingdomIndiaItalyJapanMexicoRussiaSingaporeUnited States

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.