Search on: SJOGREN-LARSSON SYNDROME 
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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 

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