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SJOGREN-LARSSON SYNDROME
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DeCS
Descriptor
English
:
Sjogren-Larsson Syndrome
Descriptor
Spanish
:
Síndrome de Sjögren-Larsson
Descriptor
Portuguese
:
Síndrome de Sjogren-Larsson
Synonyms
English
:
Congenital Icthyosis Mental Retardation Spasticity Syndrome
FALDH Deficiency
Fatty Alcohol:NAD+ Oxidoreductase Deficiency
Fatty Aldehyde Dehydrogenase Deficiency
Fatty Aldehyde Dehydrogenase Deficiency Disease
Ichthyosis Oligophrenia Syndrome
Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia
Sjogren Larsson Syndrome
Sjögren-Larsson Syndrome
Tree Number:
C16.131.831.512.723
C16.320.565.398.641.723
C16.320.850.820
C16.614.492.723
C17.800.428.333.723
C17.800.804.512.723
C17.800.827.820
C18.452.584.687.723
C18.452.648.398.641.723
Definition
English
:
An autosomal recessive neurocutaneous disorder characterized by severe
ichthyosis
MENTAL RETARDATION; SPASTIC
PARAPLEGIA
; and congenital
ICHTHYOSIS
. It is caused by
mutation
of gene encoding microsomal fatty
ALDEHYDE DEHYDROGENASE
leading to defect in fatty alcohol
metabolism.
Indexing Annotation
English
:
do not confuse with
SJOGREN'S SYNDROME
; in titles &
translations
use diacritic: Sjögren-Larsson
History Note
English
:
1991; use ICHTHYOSIS 1984-1990
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:
29121
Unique Identifier:
D016111
Occurrence in VHL
:
Similar:
DeCS