Diseases

Sjogren-Larsson Syndrome

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

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MeSH Record

Synonyms

9 entry terms
  • 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
  • Sjögren-Larsson Syndrome
  • Sjogren Larsson Syndrome

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

do not confuse with SJOGREN'S SYNDROME; in titles & translations use diacritic: Sjögren-Larsson

MeSH Record

History Note

1991; use ICHTHYOSIS 1984-1990

MeSH Record

Previous Indexing

  • Ichthyosis (1966-1990)

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Sjogren-Larsson Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D016111. http://id.nlm.nih.gov/mesh/2026/D016111
  2. Sjogren-Larsson Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Sj%C3%B6gren%E2%80%93Larsson_syndrome
  3. Sjogren-Larsson Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q2291208