Expresión de búsqueda:
LEOPARD SYNDROME
Descriptores Encontrados:
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DeCS
Descriptor
Inglés
:
LEOPARD Syndrome
Descriptor
Español
:
Síndrome LEOPARD
Descriptor
Portugués
:
Síndrome LEOPARD
Categoría:
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
Definición
Inglés
:
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.
Relacionados
Inglés
:
Neurofibromatosis 1
Noonan Syndrome
Nota Histórica
Inglés
:
2004; use NEUROFIBROMATOSIS 1 2002 -2003
Calificadores Permitidos
Inglés
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Número del Registro:
38037
Identificador Único:
D044542
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS