Type 4 Congenital Generalized Lipodystrophy

mutations in PTRF

Also Known As:

Lipodystrophy, Congenital Generalized, Type 4; Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy; Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy

Networked: 0 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Congenital Generalized Lipodystrophy: 255
        Type 4 Congenital Generalized Lipodystrophy
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Metabolic Skin Diseases: 1
    - Lipodystrophy: 2297
      - Congenital Generalized Lipodystrophy: 255
        Type 4 Congenital Generalized Lipodystrophy
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142