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Descriptor English: LEOPARD Syndrome
Descriptor Spanish: Síndrome LEOPARD
Descriptor Portuguese: Síndrome LEOPARD
Descriptor French: Syndrome LEOPARD
Entry term(s): Cardio Cutaneous Syndrome
Cardio-Cutaneous Syndrome
Cardio-Cutaneous Syndromes
Cardiomyopathic Lentiginoses
Cardiomyopathic Lentiginoses, Progressive
Cardiomyopathic Lentiginosis
Cardiomyopathic Lentiginosis, Progressive
Cardiomyopathic, Lentiginosis
Cardiomyopathics, Lentiginosis
LEOPARD Syndrome, 1
LEOPARD Syndromes
Lentigines Syndrome, Multiple
Lentigines Syndromes, Multiple
Lentiginoses, Cardiomyopathic
Lentiginoses, Progressive Cardiomyopathic
Lentiginosis Cardiomyopathic
Lentiginosis Cardiomyopathics
Lentiginosis, Cardiomyopathic
Lentiginosis, Progressive Cardiomyopathic
Leopard Syndrome 1
Multiple Lentigines Syndrome
Multiple Lentigines Syndromes
Noonan Syndrome with Multiple Lentigines
Progressive Cardiomyopathic Lentiginoses
Progressive Cardiomyopathic Lentiginosis
Syndrome, Cardio-Cutaneous
Syndrome, LEOPARD
Syndrome, Multiple Lentigines
Syndromes, Cardio-Cutaneous
Syndromes, LEOPARD
Syndromes, Multiple Lentigines
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
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Lentigo (1970-2003)
Syndrome (1971-2003)
Public MeSH Note: 2004; see NEUROFIBROMATOSIS 1 2002 -2003
History Note: 2004; use NEUROFIBROMATOSIS 1 2002 -2003
Related: Neurofibromatosis 1 MeSH
Noonan Syndrome MeSH
DeCS ID: 38037
Unique ID: D044542
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2004/01/01
Date of Entry: 2003/07/09
Revision Date: 2019/07/05
LEOPARD Syndrome - Preferred
Concept UI M0374986
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.
Preferred term LEOPARD Syndrome
Entry term(s) Cardio Cutaneous Syndrome
Cardio-Cutaneous Syndrome
Cardio-Cutaneous Syndromes
Cardiomyopathic Lentiginoses
Cardiomyopathic Lentiginoses, Progressive
Cardiomyopathic Lentiginosis
Cardiomyopathic Lentiginosis, Progressive
Cardiomyopathic, Lentiginosis
Cardiomyopathics, Lentiginosis
LEOPARD Syndromes
Lentigines Syndrome, Multiple
Lentigines Syndromes, Multiple
Lentiginoses, Cardiomyopathic
Lentiginoses, Progressive Cardiomyopathic
Lentiginosis Cardiomyopathic
Lentiginosis Cardiomyopathics
Lentiginosis, Cardiomyopathic
Lentiginosis, Progressive Cardiomyopathic
Multiple Lentigines Syndrome
Multiple Lentigines Syndromes
Noonan Syndrome with Multiple Lentigines
Progressive Cardiomyopathic Lentiginoses
Progressive Cardiomyopathic Lentiginosis
Syndrome, Cardio-Cutaneous
Syndrome, LEOPARD
Syndrome, Multiple Lentigines
Syndromes, Cardio-Cutaneous
Syndromes, LEOPARD
Syndromes, Multiple Lentigines
LEOPARD Syndrome, 1 - Narrower
Concept UI M000648334
Preferred term LEOPARD Syndrome, 1
Entry term(s) Leopard Syndrome 1



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