LEOPARD Syndrome (Syndrome, LEOPARD)

An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Also Known As:
Syndrome, LEOPARD; Multiple Lentigines Syndrome; LEOPARD Syndromes; Lentigines Syndrome, Multiple; Lentigines Syndromes, Multiple; Multiple Lentigines Syndromes; Syndrome, Multiple Lentigines; Syndromes, LEOPARD; Syndromes, Multiple Lentigines
Networked: 64 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1. Noonan Syndrome (Female Pseudo-Turner Syndrome)
2. Costello Syndrome
3. Neurofibromatosis 1 (Neurofibromatosis Type I)
4. Neurofibromatoses (Neurofibromatosis)
5. LEOPARD Syndrome (Syndrome, LEOPARD)


1. Tartaglia, Marco: 7 articles (09/2014 - 02/2006)
2. Gelb, Bruce D: 6 articles (09/2014 - 02/2006)
3. Dallapiccola, Bruno: 5 articles (01/2014 - 02/2004)
4. Neel, Benjamin G: 4 articles (01/2014 - 01/2010)
5. Sarkozy, Anna: 4 articles (04/2008 - 02/2004)
6. Aoki, Yoko: 3 articles (01/2015 - 01/2010)
7. Martinelli, Simone: 3 articles (09/2014 - 02/2006)
8. Zampino, Giuseppe: 3 articles (04/2014 - 02/2006)
9. Kontaridis, Maria I: 3 articles (05/2011 - 05/2010)
10. Zenker, Martin: 3 articles (01/2010 - 12/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to LEOPARD Syndrome:
1. Protein Kinases (Protein Kinase)IBA
05/01/2015 - "LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (mitogen-activated protein kinase) pathway. "
09/01/2014 - "The RASopathies are a relatively common group of phenotypically similar and genetically related autosomal dominant genetic syndromes caused by missense mutations affecting genes participating in the RAS/mitogen-activated protein kinase (MAPK) pathway that include Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML, formerly LEOPARD syndrome). "
05/01/2011 - "PTPN11 mutations cause LEOPARD syndrome (LS) and Noonan syndrome (NS), two disorders that are part of a newly classified family of autosomal dominant syndromes termed "RASopathies," which are caused by germline mutations in components of the RAS/RAF/MEK/ERK mitogen activating protein kinase pathway. "
06/10/2010 - "We have generated iPSCs from patients with LEOPARD syndrome (an acronym formed from its main features; that is, lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness), an autosomal-dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-mitogen-activated protein kinase signalling diseases, which also includes Noonan syndrome, with pleomorphic effects on several tissues and organ systems. "
01/01/2009 - "In recent years, germline mutations that affect components of the RAS-MAPK (mitogen-activated protein kinase) pathway were shown to be involved in the pathogenesis of NS and four rare syndromes with clinical features overlapping with NS: Leopard syndrome, cardio-facio-cutaneous syndrome, Costello syndrome and neurofibromatosis type 1. Several hormones act through receptors that stimulate the RAS-MAPK pathway, and therefore, NS and related disorders represent a remarkable opportunity to study the implication of the RAS-MAPK pathway in different endocrine systems. "
2. Carbon MonoxideIBA
3. Noonan like syndromeIBA
4. HormonesIBA
5. Cardiofaciocutaneous syndromeIBA
6. Protein Tyrosine PhosphatasesIBA
7. Legius syndromeIBA
8. 1 LEOPARD syndromeIBA
9. Neurofibromatosis-Noonan syndromeIBA
10. Phosphotransferases (Kinase)IBA

Therapies and Procedures

1. Anesthesia
2. Cochlear Implantation
3. Implantable Defibrillators (Implantable Cardioverter-Defibrillator)
4. General Anesthesia