... own window Gene Disorder Reported Pathogenic Variants 1 Reference Sequences AKT1 Proteus syndrome c.49G>A (p.Glu17Lys) NM_005163 ​.2 ...

... of the United States Copyright Act, the GeneReview "Proteus Syndrome" is in the public domain in the United States of America. References Literature Cited Abell K, Tolusso L, Smith N, ...

... glans penis [ Gorlin et al 1992 ]. PTEN -Related Proteus Syndrome PTEN -related Proteus syndrome (PS) is highly variable ... polyps seen in Peutz-Jeghers syndrome . PTEN -Related Proteus Syndrome (PS) PS is characterized by progressive segmental or ...

... et al. Histogenesis of vascular tumors in the Proteus syndrome. South Med J. 1994 Feb; 87 (2):228– ... Gulhan Y, Cakan T, et al. Anaesthesia for Proteus syndrome. Eur J Anaesthesiol. 2000 Oct; 17 (10):645– ...

... change in a related gene) is associated with Proteus syndrome [ Lindhurst et al 2011 ]. 2. Deletions resulting in ... a de novo PTEN pathogenic variant. PTEN -related Proteus syndrome and Proteus-like syndrome are also autosomal dominant ...

... not assoc w/↑ risk for embryonal tumors. AKT1 Proteus syndrome See footnote 3. Asymmetric overgrowth, vascular malformations incl ... Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN -related Proteus syndrome, & PTEN -related Proteus-like syndrome) AD Asymmetric overgrowth ...

... Disorder Overlapping w/PROS Differentiating from PROS AKT1 Proteus syndrome NA (somatic) Focal somatic overgrowth, epidermal nevi, vascular ... risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome. Am J Med Genet C Semin Med Genet. ...

... s) Disorder MOI Clinical Characteristics / Comment AKT1 1 Proteus syndrome See footnote 1. Hamartomatous overgrowth of multiple tissues, ... identified in more than 90% of individuals meeting Proteus syndrome diagnostic criteria. There are no confirmed occurrences of ...

... include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN -Proteus syndrome, and Proteus-like syndrome. 9. Caux et al [2007] , Tan et al [ ... RASA1 Data are compiled from the following standard references: gene from HGNC ; ... Syndrome ( View All in OMIM ) View in own window ...