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: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Congenital Ichthyosiform Erythroderma: 42
        Chanarin-Dorfman Syndrome: 95
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Chanarin-Dorfman Syndrome: 95
  - Genetic Skin Diseases: 47
    - Congenital Ichthyosiform Erythroderma: 42
      - Chanarin-Dorfman Syndrome: 95
- Diseases Newborn Infant: 266
  - Ichthyosis: 1008
    - Congenital Ichthyosiform Erythroderma: 42
      - Chanarin-Dorfman Syndrome: 95
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Chanarin-Dorfman Syndrome: 95
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Chanarin-Dorfman Syndrome: 95
Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Chanarin-Dorfman Syndrome: 95
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Chanarin-Dorfman Syndrome: 95
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Keratosis: 706
    - Ichthyosis: 1008
      - Congenital Ichthyosiform Erythroderma: 42
        Chanarin-Dorfman Syndrome: 95
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Congenital Ichthyosiform Erythroderma: 42
        Chanarin-Dorfman Syndrome: 95
  - Genetic Skin Diseases: 47
    - Congenital Ichthyosiform Erythroderma: 42
      - Chanarin-Dorfman Syndrome: 95

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