NLM Logo

LEOPARD Syndrome MeSH Descriptor Data 2023


MeSH Heading
LEOPARD Syndrome
Tree Number(s)
C05.660.207.525
C14.240.400.695
C14.280.400.695
C14.280.484.716.525
C16.131.077.525
C16.131.240.400.685
C16.131.621.207.525
C17.800.621.430.530.550.525
Unique ID
D044542
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D044542
Scope Note
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.
Entry Term(s)
Cardio-Cutaneous Syndrome
Cardiomyopathic Lentiginosis
LEOPARD Syndrome, 1
Lentiginosis Cardiomyopathic
Leopard Syndrome 1
Multiple Lentigines Syndrome
Noonan Syndrome with Multiple Lentigines
Progressive Cardiomyopathic Lentiginosis
Previous Indexing
Lentigo (1970-2003)
Syndrome (1971-2003)
See Also
Neurofibromatosis 1
Noonan Syndrome
Public MeSH Note
2004; see NEUROFIBROMATOSIS 1 2002 -2003
History Note
2004; use NEUROFIBROMATOSIS 1 2002 -2003
Date Established
2004/01/01
Date of Entry
2003/07/09
Revision Date
2019/07/05
LEOPARD Syndrome Preferred
LEOPARD Syndrome, 1 Narrower
page delivered in 0.202s