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LEOPARD SYNDROME
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DeCS
Descriptor
English
:
LEOPARD Syndrome
Descriptor
Spanish
:
Síndrome LEOPARD
Descriptor
Portuguese
:
Síndrome LEOPARD
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
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
ultrastructure
urine
ultrasonography
veterinary
virology
Record Number:
38037
Unique Identifier:
D044542
Occurrence in VHL
:
Similar:
DeCS
SciELO
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