Chanarin-Dorfman Syndrome

A rare hereditary autosomal recessive lipid storage syndrome that is more common in persons of Middle Eastern descent. It is characterized by the appearance of lipid droplets in GRANULOCYTES and a variety of symptoms in multiple organs, including congenital ICTHYOSIS; SENSORUNEURAL HEARING LOSS, ocular abnormalities, FATTY LIVER and HEPATOMEGALY; ATAXIA; MYOPATHY, and INTELLECTUAL DISABILITY. Mutations in the ABHD5 gene have been identied. OMIM: 275630

Also Known As:

Chanarin-Dorfman disease; Dorfman Chanarin syndrome; Dorfman-Chanarin Syndrome; Ichthyosiform erythroderma with leukocyte vacuolation; Ichthyotic neutral lipid storage disease; Neutral Lipid Storage Disease With Ichthyosis; Neutral lipid storage myopathy; Triglyceride Storage Disease with Ichthyosis; Triglyceride storage disease with impaired long-chain fatty acid oxidation

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Skin Abnormalities: 159
    - Ichthyosis: 1028
      - Congenital Ichthyosiform Erythroderma: 43
        Chanarin-Dorfman Syndrome: 96
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Chanarin-Dorfman Syndrome: 96
  - Genetic Skin Diseases: 51
    - Congenital Ichthyosiform Erythroderma: 43
      - Chanarin-Dorfman Syndrome: 96
- Diseases Newborn Infant: 271
  - Ichthyosis: 1028
    - Congenital Ichthyosiform Erythroderma: 43
      - Chanarin-Dorfman Syndrome: 96
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Chanarin-Dorfman Syndrome: 96
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - Chanarin-Dorfman Syndrome: 96
Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Chanarin-Dorfman Syndrome: 96
Nervous System Diseases: 14737
- Neuromuscular Diseases: 2048
  - Muscular Diseases: 10368
    - Chanarin-Dorfman Syndrome: 96
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Keratosis: 712
    - Ichthyosis: 1028
      - Congenital Ichthyosiform Erythroderma: 43
        Chanarin-Dorfman Syndrome: 96
  - Skin Abnormalities: 159
    - Ichthyosis: 1028
      - Congenital Ichthyosiform Erythroderma: 43
        Chanarin-Dorfman Syndrome: 96
  - Genetic Skin Diseases: 51
    - Congenital Ichthyosiform Erythroderma: 43
      - Chanarin-Dorfman Syndrome: 96

B Bouadjar Selected Research

B Bouadjar Research Topics

Disease

Drug/Important Bio-Agent (IBA)