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

Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations.
 

Author(s): Zhi-Hong Yu, Jie Xu, Chad D Walls, Lan Chen, Sheng Zhang, Ruoyu Zhang, Li Wu, Lina Wang, Sijiu Liu, Zhong-Yin Zhang

Journal: J. Biol. Chem.. 2013 Apr;288(15):10472-82.

 

SHP2 is an allosteric phosphatase essential for growth factor-mediated Ras activation. Germ-line mutations in SHP2 cause clinically similar LEOPARD and Noonan syndromes, two of several autosomal-dominant conditions characterized by gain-of-function mutations in the Ras pathway. Interestingly, ...

Last Updated: 15 Apr 2013

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LEOPARD syndrome.
 

Author(s): P L Massoure, C Latremouille, G Lamblin, F Leca

Journal:

 

LEOPARD syndrome (LS) is a rare hereditary disorder, characterised mainly by skin, facial and cardiac abnormalities. We report on the case of a six-year-old Djiboutian with typical features of LS. Multiple cardiovascular problems are described, including pulmonary infundibular, valvular ...

Last Updated: 26 Jul 2012

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Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.
 

Author(s): Vladimir Kuburović, Vladislav Vukomanović, Atilano Carcavilla, Begona Ezquieta-Zubicaray, Nina Kuburović

Journal: Turk. J. Pediatr.. ;53(6):687-91.

 

. LEOPARD syndrome 2 (LS-2) (OMIM #611554) is a rare, dominantly inherited genetic disorder affecting multiple organ systems. We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both with proven mutations in the RAF1 gene ...

Last Updated: 6 Mar 2012

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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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