Proteus syndrome

Common Name(s)

Proteus syndrome

Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells.  This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Proteus syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "Proteus syndrome" returned 46 free, full-text research articles on human participants. First 3 results:

Lack of mutation-histopathology correlation in a patient with Proteus syndrome.
 

Author(s): Meggie E Doucet, Hadley M Bloomhardt, Krzysztof Moroz, Marjorie J Lindhurst, Leslie G Biesecker

Journal: Am. J. Med. Genet. A. 2016 Jun;170(6):1422-1432.

 

Proteus syndrome (PS) is characterized by progressive, disproportionate, segmental overgrowth, and tumor susceptibility caused by a somatic mosaic AKT1 activating mutation. Each individual has unique manifestations making this disorder extremely heterogeneous. We correlated three ...

Last Updated: 31 Dec 1969

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Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.
 

Author(s): S Polubothu, L Al-Olabi, L Wilson, W K Chong, V A Kinsler

Journal: Br. J. Dermatol.. 2016 Sep;175(3):612-4.

 

Last Updated: 31 Dec 1969

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Proteus syndrome: evaluation of the immunological profile.
 

Author(s): Vassilios Lougaris, Vincenzo Salpietro, Maricia Cutrupi, Manuela Baronio, Daniele Moratto, M R Pizzino, Kshitij Mankad, Silvana Briuglia, Carmelo Salpietro, Alessandro Plebani

Journal:

 

Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological ...

Last Updated: 31 Dec 1969

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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 "Proteus syndrome" returned 7 free, full-text review articles on human participants. First 3 results:

Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2015 Feb;19(103):109-16.

 

Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting ...

Last Updated: 31 Dec 1969

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The challenges of Proteus syndrome: diagnosis and management.
 

Author(s): Leslie Biesecker

Journal: Eur. J. Hum. Genet.. 2006 Nov;14(11):1151-7.

 

Proteus syndrome (PS) is a disorder of patchy or mosaic postnatal overgrowth of unknown etiology. The onset of overgrowth typically occurs in infancy and can involve any tissue of the body. Commonly involved tissues include connective tissue and bone, skin, central nervous system, ...

Last Updated: 31 Dec 1969

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Proteus syndrome: a natural clinical course of Proteus syndrome.
 

Author(s): John A Linton, Byeong-Kwon Seo, Choong-San Oh

Journal: Yonsei Med. J.. 2002 Apr;43(2):259-66.

 

A 16-year-old Korean male patient presented with macrodactyly, hemihypertrophy of the face and extremities, plantar cerebriform hyperplasia, a subcutaneous mass of the left chest, macrocephaly and verrucous epidermal nevi. These findings are consistent with Proteus Syndrome. The clinical ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Proteus Syndrome and Related Congenital Disorders
 

Status: Recruiting

Condition Summary: Growth Disorder; Mental Retardation; Multiple Abnormalies

 

Last Updated: 18 Oct 2017

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Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies
 

Status: Available

Condition Summary: Proteus Syndrome; PIK3CA-Related Overgrowth Spectrum (PROS); Growth Disorders

 

Last Updated: 17 Oct 2017

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Study of ARQ 092 in Patients With Overgrowth Diseases and Vascular Anomalies
 

Status: Recruiting

Condition Summary: Proteus Syndrome; PIK3CA-Related Overgrowth Spectrum (PROS); Growth Disorders

 

Last Updated: 13 Nov 2017

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