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 35 free, full-text research articles on human participants. First 3 results:

Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.
 

Author(s): Zhi-Hong Yu, Ruo-Yu Zhang, Chad D Walls, Lan Chen, Sheng Zhang, Li Wu, Sijiu Liu, Zhong-Yin Zhang

Journal: Biochemistry. 2014 Jul;53(25):4136-51.

 

The Src homology 2 (SH2) domain-containing protein tyrosine phosphatase 2 (SHP2) is a critical signal transducer downstream of growth factors that promotes the activation of the RAS-ERK1/2 cascade. In its basal state, SHP2 exists in an autoinhibited closed conformation because of ...

Last Updated: 3 Jul 2014

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PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.
 

Author(s): Jeroen Paardekooper Overman, Jae-Sung Yi, Monica Bonetti, Matthew Soulsby, Christian Preisinger, Matthew P Stokes, Li Hui, Jeffrey C Silva, John Overvoorde, Piero Giansanti, Albert J R Heck, Maria I Kontaridis, Jeroen den Hertog, Anton M Bennett

Journal: Mol. Cell. Biol.. 2014 Aug;34(15):2874-89.

 

Noonan syndrome (NS) is an autosomal dominant disorder caused by activating mutations in the PTPN11 gene encoding Shp2, which manifests in congenital heart disease, short stature, and facial dysmorphia. The complexity of Shp2 signaling is exemplified by the observation that LEOPARD ...

Last Updated: 4 Jul 2014

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LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
 

Author(s): Claudia Santoro, Giuseppe Pacileo, Giuseppe Limongelli, Saverio Scianguetta, Teresa Giugliano, Giulio Piluso, Fulvio Della Ragione, Mario Cirillo, Giuseppe Mirone, Silverio Perrotta

Journal:

 

Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis-Noonan ...

Last Updated: 3 Jun 2014

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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

Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes
 

Status: Not yet recruiting

Condition Summary: Noonan Syndrome; LEOPARD Syndrome

 

Last Updated: 30 Jun 2015

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