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NETHERTON SYNDROME
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DeCS
Descriptor
English
:
Netherton Syndrome
Descriptor
Spanish
:
Síndrome de Netherton
Descriptor
Portuguese
:
Síndrome de Netherton
Synonyms
English
:
Netherton Disease
Tree Number:
C16.131.077.619
C16.131.831.512.400.705
C16.320.850.673
C16.614.492.400.705
C17.800.428.333.250.705
C17.800.804.512.400.705
C17.800.827.655
Definition
English
:
Rare autosomal recessive
disease
with variable expressions. Clinical features of the
disease
include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC
DERMATITIS
. The
disease
is caused by
mutations
in the SPINK5 gene.
See Related
English
:
Serine Peptidase Inhibitor Kazal-Type 5
History Note
English
:
2010
Allowable Qualifiers
English
:
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
Record Number:
53553
Unique Identifier:
D056770
Occurrence in VHL
:
Similar:
DeCS