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Genetic syndromes and other conditions

Tuberous sclerosis complex (TSC)

An inherited disease. Benign (non-cancerous) growths form in many organs, such as the brain, kidneys, heart, skin and eyes. Seizures, learning and behavior problems may be seen.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French, Polish, German, English, Spanish, Italian, Portuguese). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Genetic syndromes and other conditions” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

There is a change in the TSC1 or TSC2 gene. These genes act as a brake on cell growth. When the brake fails, non-cancerous growths form in many organs. Symptoms differ greatly from person to person.

Which symptoms can occur?

Symptoms vary depending on which organ is affected.

  • Pale patches and areas of thickened skin (in almost everyone)
  • Small bumps on the face that begin in childhood (common)
  • Small growths at the base of the nails
  • Seizures (fits)
  • Learning difficulties, autism, attention deficit and behavior problems
  • Growths in the kidneys (common)
  • Growths in the heart or in the back layer of the eye
  • In some women, lung involvement that causes coughing and shortness of breath

How is it diagnosed?

The diagnosis is made by looking at the skin and organ findings. An MRI is done of the brain and kidneys. An ultrasound and an ECG are done for the heart. A genetic test confirms the diagnosis. A growth in the heart is sometimes seen before birth.

Treatment and care

Care is provided by a team of specialists. For seizures there are options such as medicine, a special diet or surgery. There are approved medicine treatments specifically for the disease for growths in the brain, kidneys, lungs and skin. If needed, a growth is removed with surgery. Physiotherapy, speech therapy, special education and regular follow-up are very important. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is passed on through dominant inheritance. For each child of an affected parent, the chance of passing it on is 1 in 2. About two thirds of cases start with a new gene change, with no family history. Genetic counselling guides the family.

Source: MedlinePlus Genetics: Tuberous sclerosis complex · NORD: Tuberous Sclerosis

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide)
How is it inherited?
Autosomal dominant
When does it usually start?
Any age
Gene(s) involved
TSC1, TSC2

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Tuberous sclerosis

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 15 active interventional studies for this disease. 7 are recruiting now; 1 has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Genetic syndromes and other conditions: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:805 · ICD-11 LD2D.2

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.