LEOPARD syndrome

Common Name(s)

LEOPARD syndrome

LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple dark spots on the skin);
(E)lectrocardiographic conduction defects (abnormalities of the electrical activity of the heart); (O)cular hypertelorism (widely spaced eyes); (P)ulmonary stenosis (obstruction of the normal outflow of blood from the right ventricle of the heart); (A)bnormalities of the genitalia; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss.

There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Most cases are inherited from a parent in an autosomal dominant pattern. Less often, LEOPARD syndrome occurs in people without a family history of the condition due to a new gene mutation.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "LEOPARD 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 "LEOPARD syndrome" returned 30 free, full-text research articles on human participants. First 3 results:

Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
 

Author(s): Monica Bonetti, Jeroen Paardekooper Overman, Federico Tessadori, Emily Noël, Jeroen Bakkers, Jeroen den Hertog

Journal: Development. 2014 May;141(9):1961-70.

 

Germline mutations in PTPN11, encoding Shp2, cause Noonan syndrome (NS) and LEOPARD syndrome (LS), two developmental disorders that are characterized by multiple overlapping symptoms. Interestingly, Shp2 catalytic activity is enhanced by NS mutations and reduced by LS mutations. Defective ...

Last Updated: 23 Apr 2014

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LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography.
 

Author(s): Sangita Ghosh, Soumik Chaudhuri, Vijay Kumar Jain

Journal: Indian J Dermatol Venereol Leprol. ;79(6):821-4.

 

Last Updated: 1 Nov 2013

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New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling.
 

Author(s): Christine Schramm, Michelle A Edwards, Maike Krenz

Journal: J. Biol. Chem.. 2013 Jun;288(25):18335-44.

 

In LEOPARD syndrome (LS) patients, mutations in the protein tyrosine phosphatase Shp2 cause hypertrophic cardiomyopathy. The prohypertrophic effects of mutant Shp2 are mediated downstream by hyperactivation of mammalian target of rapamycin. Our goal was to further define the signaling ...

Last Updated: 24 Jun 2013

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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 "LEOPARD syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Leopard syndrome.
 

Author(s): Anna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola

Journal:

 

LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, ...

Last Updated: 16 Jul 2008

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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