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Qualifier English: Sjogren-Larsson Syndrome
Qualifier Spanish: Síndrome de Sjögren-Larsson
Descriptor síndrome de Sjögren-Larsson
Scope note: Raro síndrome de herencia autosómica recesiva que se caracteriza por ictiosis, retraso mental, y síntomas piramidales espásticos. Se asocia con un defecto en el metabolismo de los alcoholes grasos.
Qualifier Portuguese: Síndrome de Sjogren-Larsson
Qualifier French: Syndrome de Sjögren-Larsson
Entry term(s): 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(s): 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
C18.452.584.563.641.723
C18.452.648.398.641.723
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D016111
Scope note: 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.
Annotation: do not confuse with SJOGREN'S SYNDROME; in titles & translations use diacritic: Sjögren-Larsson
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Ichthyosis (1966-1990)
Public MeSH Note: 1991; see ICHTHYOSIS 1984-1990
History Note: 1991; use ICHTHYOSIS 1984-1990
DeCS ID: 29121
Unique ID: D016111
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1990/06/06
Revision Date: 2015/06/22
Sjogren-Larsson Syndrome - Preferred
Concept UI M0024610
Scope note 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.
Preferred term Sjogren-Larsson Syndrome
Entry term(s) 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



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