Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Catherine Yang + 617 word(s) 617 2020-12-15 07:17:07

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Yang, C. Bannayan-Riley-Ruvalcaba Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4915 (accessed on 25 September 2026).
Yang C. Bannayan-Riley-Ruvalcaba Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4915. Accessed September 25, 2026.
Yang, Catherine. "Bannayan-Riley-Ruvalcaba Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4915 (accessed September 25, 2026).
Yang, C. (2020, December 24). Bannayan-Riley-Ruvalcaba Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4915
Yang, Catherine. "Bannayan-Riley-Ruvalcaba Syndrome." Encyclopedia. Web. 24 December, 2020.
Bannayan-Riley-Ruvalcaba Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/bannayan-riley-ruvalcaba-syndrome

Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.

genetic conditions

References

  1. Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet.2008 Nov;16(11):1289-300. doi: 10.1038/ejhg.2008.162.
  2. Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [updated 2016 Jun 2]. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1488/
  3. Eng C. PTEN: one gene, many syndromes. Hum Mutat. 2003 Sep;22(3):183-98.Review.
  4. Hobert JA, Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med. 2009 Oct;11(10):687-94. doi: 10.1097/GIM.0b013e3181ac9aea. Review.
  5. Lynch NE, Lynch SA, McMenamin J, Webb D. Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. Arch Dis Child. 2009 Jul;94(7):553-4. doi: 10.1136/adc.2008.155663.
  6. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D,Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM,Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER,Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al. Mutationspectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonanasyndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet.1998 Mar;7(3):507-15.
  7. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J,Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, HodgsonSV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, ParisiM, Pober B, Romano C, Eng C, et al. PTEN mutation spectrum and genotype-phenotypecorrelations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity withCowden syndrome. Hum Mol Genet. 1999 Aug;8(8):1461-72.
  8. Parisi MA, Dinulos MB, Leppig KA, Sybert VP, Eng C, Hudgins L. The spectrumand evolution of phenotypic findings in PTEN mutation positive cases ofBannayan-Riley-Ruvalcaba syndrome. J Med Genet. 2001 Jan;38(1):52-8.
  9. Zbuk KM, Eng C. Cancer phenomics: RET and PTEN as illustrative models. Nat RevCancer. 2007 Jan;7(1):35-45.
  10. Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M,Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, RussoD, Nassif NT, Eng C. Germline PTEN promoter mutations and deletions inCowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein anddysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet. 2003Aug;73(2):404-11.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 1.5K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback