Legius syndrome

Common Name(s)

Legius syndrome

Legius syndrome is an autosomal dominant disorder that shows some similarities to neurofibromatosis type I (NF1; {162200}), which is caused by mutation in the neurofibromin gene ({613113}); however, Legius syndrome is less severe. Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems. Legius syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules, or tumor predisposition. The SPRED1 gene encodes a negative regulator of the RAS-MAPK pathway, similar to neurofibromin, and thus may be considered a RASopathy (review by {2:Brems et al., 2012}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Legius 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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Legius 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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
 

Author(s): Irma B Stowe, Ellen L Mercado, Timothy R Stowe, Erika L Bell, Juan A Oses-Prieto, Hilda Hernández, Alma L Burlingame, Frank McCormick

Journal: Genes Dev.. 2012 Jul;26(13):1421-6.

 

The Ras/mitogen-activated protein kinase (MAPK) pathway plays a critical role in transducing mitogenic signals from receptor tyrosine kinases. Loss-of-function mutations in one feedback regulator of Ras/MAPK signaling, SPRED1 (Sprouty-related protein with an EVH1 domain), cause Legius ...

Last Updated: 3 Jul 2012

Go To URL
Observations on intelligence and behavior in 15 patients with Legius syndrome.
 

Author(s): Ellen Denayer, Mie-Jef Descheemaeker, Douglas R Stewart, Kathelijn Keymolen, Ellen Plasschaert, Sarah L Ruppert, Joseph Snow, Audrey E Thurm, Lisa A Joseph, Jean-Pierre Fryns, Eric Legius

Journal: Am J Med Genet C Semin Med Genet. 2011 May;157C(2):123-8.

 

Legius syndrome is a RAS-MAPK syndrome characterized by pigmentary findings similar to neurofibromatosis type 1 (NF1), but without tumor complications. Learning difficulties and behavioral problems have been reported to be associated with Legius syndrome, but have not been studied ...

Last Updated: 20 Apr 2011

Go To URL
Legius syndrome in fourteen families.
 

Author(s): Ellen Denayer, Magdalena Chmara, Hilde Brems, Anneke Maat Kievit, Yolande van Bever, Ans M W Van den Ouweland, Rick Van Minkelen, Arja de Goede-Bolder, Rianne Oostenbrink, Phillis Lakeman, Eline Beert, Takuma Ishizaki, Tomoaki Mori, Kathelijn Keymolen, Jenneke Van den Ende, Elisabeth Mangold, Sirkku Peltonen, Glen Brice, Julia Rankin, Karin Y Van Spaendonck-Zwarts, Akihiko Yoshimura, Eric Legius

Journal: Hum. Mutat.. 2011 Jan;32(1):E1985-98.

 

Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties. It is caused by germline loss-of-function SPRED1 mutations and is a member of the RAS-MAPK ...

Last Updated: 24 Dec 2010

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Legius syndrome" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.