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 
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
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:   29121 
Unique Identifier:   D016111 

Occurrence in VHL: 		 

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