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.

Also Known As:

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Sjogren-Larsson Syndrome: 142
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sjogren-Larsson Syndrome: 142
  - Genetic Skin Diseases: 47
    - Sjogren-Larsson Syndrome: 142
- Diseases Newborn Infant: 266
  - Ichthyosis: 1008
    - Sjogren-Larsson Syndrome: 142
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Keratosis: 706
    - Ichthyosis: 1008
      - Sjogren-Larsson Syndrome: 142
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Sjogren-Larsson Syndrome: 142
  - Genetic Skin Diseases: 47
    - Sjogren-Larsson Syndrome: 142
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sjogren-Larsson Syndrome: 142
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sjogren-Larsson Syndrome: 142

Thereza C L Alvim Selected Research

Thereza C L Alvim Research Topics

Disease

Drug/Important Bio-Agent (IBA)