Expresión de búsqueda:
CYTOCHROME-C OXIDASE DEFICIENCY
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DeCS
Descriptor
Inglés
:
Cytochrome-c Oxidase Deficiency
Descriptor
Español
:
Deficiencia de Citocromo-c Oxidasa
Descriptor
Portugués
:
Deficiência de Citocromo-c Oxidase
Categoría:
C16.320.565.240
C18.452.660.195
Definición
Inglés
:
A
disease
that results from a congenital defect in
ELECTRON TRANSPORT COMPLEX IV
. Defects in
ELECTRON TRANSPORT COMPLEX IV
can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes.
ELECTRON TRANSPORT COMPLEX IV
deficiency caused by
mutation
in SURF1 manifests itself as
LEIGH DISEASE
; that caused by
mutation
in SCO2 as fatal infantile cardioencephalomyopathy; that caused by
mutation
in COX10 as tubulopathy and leukodystrophy; and that caused by
mutation
in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
Relacionados
Inglés
:
Electron Transport Complex IV
Nota Histórica
Inglés
:
2002
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:
36031
Identificador Único:
D030401
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS