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MEVALONATE KINASE DEFICIENCY
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DeCS
Descriptor
English
:
Mevalonate Kinase Deficiency
Descriptor
Spanish
:
Deficiencia de Mevalonato Quinasa
Descriptor
Portuguese
:
Deficiência de Mevalonato Quinase
Synonyms
English
:
Hyperimmunoglobulinemia D
Mevalonicaciduria
Tree Number:
C10.228.140.163.100.680.430
C15.378.147.542.319
C16.320.382.750
C16.320.565.189.680.430
C16.320.565.663.480
C18.452.132.100.680.430
C18.452.648.189.680.430
C18.452.648.663.480
C20.683.460.319
Definition
English
:
Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations
cholesterol
biosynthesis is disrupted and
MEVALONIC ACID
accumulates. It is characterized by a range of
symptoms
, including dysmorphic
FACIES
, psychomotor retardation,
CATARACT
, hepatosplenomegaly,
CEREBELLAR ATAXIA
, elevated
IMMUNOGLOBULIN D
, and recurrent febrile crises with
FEVER
; LYMPHADENOPATHY;
ARTHRALGIA
;
EDEMA
; and rash.
History Note
English
:
2008
Allowable Qualifiers
English
:
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
Record Number:
52588
Unique Identifier:
D054078
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS