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About 419 results

ALLMedicine™ Proteus Syndrome Center

Research & Reviews  207 results

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-rel...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913425
Orphanet Journal of Rare Diseases; Forde K, Resta N et. al.

Feb 28th, 2021 - PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated morbidity is frequently observed, and a...

PTEN Hamartoma Tumor Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/phts/

Feb 10th, 2021 - The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome.

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7556951
Orphanet Journal of Rare Diseases; Tian W, Huang Y et. al.

Oct 15th, 2020 - Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain insights into the genetics basis of isolated macrodactyly. We...

Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethal...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871364
Human Molecular Genetics; Lindhurst MJ, Li W et. al.

Oct 8th, 2020 - Proteus syndrome is a progressive overgrowth disorder with vascular malformations caused by mosaic expression of the AKT1 c.49G > A, p.(E17K) activating variant which was predicted to cause lethality if expressed ubiquitously. To test that hypothe...

Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19.
https://doi.org/10.1002/ajmg.a.61861
American Journal of Medical Genetics. Part A REFERENCES; Ours CA, Biesecker LG

Sep 11th, 2020 - Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19.|2020|Ours CA,Biesecker LG,|

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Clinicaltrials.gov  209 results

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-rel...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913425
Orphanet Journal of Rare Diseases; Forde K, Resta N et. al.

Feb 28th, 2021 - PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated morbidity is frequently observed, and a...

PTEN Hamartoma Tumor Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/phts/

Feb 10th, 2021 - The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome.

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7556951
Orphanet Journal of Rare Diseases; Tian W, Huang Y et. al.

Oct 15th, 2020 - Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain insights into the genetics basis of isolated macrodactyly. We...

Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethal...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871364
Human Molecular Genetics; Lindhurst MJ, Li W et. al.

Oct 8th, 2020 - Proteus syndrome is a progressive overgrowth disorder with vascular malformations caused by mosaic expression of the AKT1 c.49G > A, p.(E17K) activating variant which was predicted to cause lethality if expressed ubiquitously. To test that hypothe...

Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19.
https://doi.org/10.1002/ajmg.a.61861
American Journal of Medical Genetics. Part A REFERENCES; Ours CA, Biesecker LG

Sep 11th, 2020 - Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19.|2020|Ours CA,Biesecker LG,|

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News  3 results

Recurrent Cerebriform Connective Tissue Nevus on the Foot of a Patient With Proteus Syndrome
https://www.mdedge.com/dermatology/article/115831/pediatrics/recurrent-cerebriform-connective-tissue-nevus-foot-patient/page/0/1

Oct 18th, 2016 - To make a diagnosis of PS, one must have all the general criteria and various specific criteria. The revised diagnostic criteria for PS are given in the Table.

'Elephant Man' Gene Mutation Identified
https://www.medpagetoday.com/genetics/generalgenetics/27776

Jul 27th, 2011 - Action Points xplain that Proteus syndrome -- the likely affliction of the "Elephant Man" -- is caused by a somatic mutation (an alteration in DNA that occurs after conception, and is passed only to direct descendant cells) in the oncogene AKT1. N...

Proteus Syndrome: 2 Case Reports and a Review of the Literature
https://www.mdedge.com/dermatology/article/67583/proteus-syndrome-2-case-reports-and-review-literature
Satter E

Proteus syndrome is characterized by asymmetric disproportionate enlargement of the limbs, skull, or vertebrae, associated with a number of cutaneous lesions. The variability in clinical presentation often results in misdiagnosis, and currently no.

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