Expresión de búsqueda:
LOEYS-DIETZ SYNDROME
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DeCS
Descriptor
Inglés
:
Loeys-Dietz Syndrome
Descriptor
Español
:
Síndrome de Loeys-Dietz
Descriptor
Portugués
:
Síndrome de Loeys-Dietz
Sinónimos
Inglés
:
Loeys Dietz Aortic Aneurysm Syndrome
Loeys Dietz Syndrome
Loeys Dietz Syndrome, Type 1a
Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Syndrome, Type 1a
Syndrome, Loeys-Dietz
Categoría:
C05.660.207.532
C14.907.055.050.362
C14.907.055.239.587
C14.907.109.139.587
C16.131.077.537
C16.320.510
Definición
Inglés
:
An autosomal dominant
aneurysm
with multisystem abnormalities caused by increased TGF-BETA signaling due to
mutations
in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include
CLEFT PALATE
; CRANIOSYNOSTOSIS;
HYPERTELORISM
; or bifid uvula.
Phenotypes
closely resemble
MARFAN SYNDROME
; Marfanoid craniosynostosis
syndrome
(Shprintzen-Goldberg
syndrome
); and
EHLERS-DANLOS SYNDROME.
Relacionados
Inglés
:
Ehlers-Danlos Syndrome
Marfan Syndrome
Nota Histórica
Inglés
:
2010
Calificadores Permitidos
Inglés
:
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
Número del Registro:
53497
Identificador Único:
D055947
Ocurrencia en la BVS
:
Similar:
DeCS