Tuberous sclerosis

Common Name(s)

Tuberous sclerosis

Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. Common signs and symptoms include patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tumors may cause developmental problems (e.g., seizures, hyperactivity, aggression, learning problems, autistic-like behaviors). Some tumors can cause serious complications (e.g., those affecting the brain, heart, or kidney). Tuberous sclerosis complex has an autosomal dominant pattern of inheritance and can be caused by mutations in the TSC1 or TSC2 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tuberous sclerosis" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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LAM Treatment Alliance

The LAM Treatment Alliance (LTA) is a 501(c)(3) non-profit organization fostering innovative patient engagement and awareness of wellness within the context of LAM. The LTA provides tools, access, and information to patients in an effort to improve health, quality of life, and modulation of disease.

Last Updated: 13 Mar 2013

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Tuberous Sclerosis Alliance

The Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis complex, while improving the lives of those affected.

Last Updated: 30 Oct 2012

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tuberous sclerosis" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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LAM Treatment Alliance

The LAM Treatment Alliance (LTA) is a 501(c)(3) non-profit organization fostering innovative patient engagement and awareness of wellness within the context of LAM. The LTA provides tools, access, and information to patients in an effort to improve health, quality of life, and modulation of disease.

http://www.curelam.org

Last Updated: 13 Mar 2013

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Tuberous Sclerosis Alliance

The Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis complex, while improving the lives of those affected.

http://www.tsalliance.org

Last Updated: 30 Oct 2012

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General Resources

TSC Facebook Discussion Group

Online discussion group for anyone affected by tuberous sclerosis complex.

Updated 26 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Tuberous sclerosis" returned 477 free, full-text research articles on human participants. First 3 results:

[Diagnosis of tuberous sclerosis complex by gene sequencing in an infant].
 

Author(s): Zhe Tao, Yan Wang, Ren-Zhe An

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 May;16(5):544-5.

 

Last Updated: 26 May 2014

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Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex.
 

Author(s): C R Mi, H Wang, H Jiang, R P Sun, G X Wang

Journal:

 

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing ...

Last Updated: 16 Apr 2014

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Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.
 

Author(s): Nur Farrah Dila Ismail, Nik Mohd Ariff Nik Abdul Malik, Jafar Mohseni, Abdulqawee Mahyoob Rani, Fatemeh Hayati, Abdul Razak Salmi, Mohd Yusof Narazah, Z A M H Zabidi-Hussin, Abdul Rashid Silawati, Wee Teik Keng, Lock Hock Ngu, Teguh Haryo Sasongko

Journal: Jpn. J. Clin. Oncol.. 2014 May;44(5):506-11.

 

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous ...

Last Updated: 30 Apr 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Tuberous sclerosis" returned 49 free, full-text review articles on human participants. First 3 results:

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.
 

Author(s): Darcy A Krueger, Hope Northrup,

Journal: Pediatr. Neurol.. 2013 Oct;49(4):255-65.

 

Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. ...

Last Updated: 23 Sep 2013

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Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.
 

Author(s): Hope Northrup, Darcy A Krueger,

Journal: Pediatr. Neurol.. 2013 Oct;49(4):243-54.

 

Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although ...

Last Updated: 23 Sep 2013

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Is mTOR inhibition a systemic treatment for tuberous sclerosis?
 

Author(s): Romina Moavero, Antonella Coniglio, Francesco Garaci, Paolo Curatolo

Journal:

 

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by the development of hamartomas in several organs. Mutations in the TSC1 and TSC2 tumor suppressor genes determin overactivation of the mammalian target of rapamycin (mTOR) signaling pathway and subsequent ...

Last Updated: 15 Nov 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Tuberous Sclerosis Complex Natural History Study: Renal Manifestations
 

Status: Recruiting

Condition Summary: Tuberous Sclerosis Complex

 

Last Updated: 1 Aug 2012

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Study of Skin Tumors in Tuberous Sclerosis
 

Status: Recruiting

Condition Summary: Hereditary Neoplastic Syndrome; Tuberous Sclerosis

 

Last Updated: 11 Nov 2014

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Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers
 

Status: Not yet recruiting

Condition Summary: Renal Angiomyolipomas; Tuberous Sclerosis

 

Last Updated: 29 Oct 2014

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