Search on: LEOPARD SYNDROME 
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Descriptor English:   LEOPARD Syndrome 
Descriptor Spanish:   Síndrome LEOPARD 
Descriptor Portuguese:   Síndrome LEOPARD 
Synonyms English:   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
LEOPARD Syndromes, 1
Lentigines Syndrome, Multiple
Lentigines Syndromes, Multiple
Lentiginoses, Cardiomyopathic
Lentiginoses, Progressive Cardiomyopathic
Lentiginosis Cardiomyopathic
Lentiginosis Cardiomyopathics
Lentiginosis, Cardiomyopathic
Lentiginosis, Progressive Cardiomyopathic
Leopard Syndrome 1
Leopard Syndrome 1s
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, 1 LEOPARD
Syndromes, Cardio-Cutaneous
Syndromes, LEOPARD
Syndromes, Multiple Lentigines  
Tree Number:   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
Definition English:   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. 
See Related English:   Neurofibromatosis 1
Noonan Syndrome
 
History Note English:   2004; use NEUROFIBROMATOSIS 1 2002 -2003 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   38037 
Unique Identifier:   D044542 

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