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Results 1 - 10 of 12 for lipodystrophy OR "lipodystrophy," congenital
  1. Congenital generalized lipodystrophy 
    ... Brunzell syndrome (with bone cysts) BSCL Generalized lipodystrophy Lipodystrophy, congenital generalized Seip syndrome Total lipodystrophy Genetic Testing Registry: ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  2. BSCL2 gene 
    ... with congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 2. This rare condition is characterized by ... conditions. More About This Health Condition Berardinelli-Seip congenital lipodystrophy 2 (seipin) BSCL2_HUMAN GNG3LG seipin SPG17 Tests ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  3. CAV1 gene 
    ... cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 3. This rare condition is characterized by ... homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008 Apr;93(4): ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  4. AGPAT2 gene 
    ... with congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 1. This rare condition is characterized by ... diabetes mellitus.The AGPAT2 gene mutations that cause congenital generalized lipodystrophy type 1 greatly reduce or eliminate the activity ...
    https://medlineplus.gov/genetics/gene/agpat2 - Genetics
  5. CAVIN1 gene 
    ... cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 4. This rare condition is characterized by ... bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional ... lipodystrophy type 4 include muscle weakness, delayed development, joint ...
    https://medlineplus.gov/genetics/gene/cavin1 - Genetics
  6. Liver Diseases (National Library of Medicine)  
    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: ...
    https://medlineplus.gov/liverdiseases.html - Health Topics
  7. Diabetes (National Library of Medicine)  
    Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps ...
    https://medlineplus.gov/diabetes.html - Health Topics
  8. LMNA gene 
    ... gene have been found to cause familial partial lipodystrophy type 2 (also known as familial partial lipodystrophy, Dunnigan type), a rare condition characterized by an ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
  9. ZMPSTE24 gene 
    ... mandibuloacral dysplasia called mandibuloacral dysplasia with type B lipodystrophy (MADB). This condition is characterized by a variety ... affecting all parts of the body (type B lipodystrophy). ZMPSTE24 gene mutations that cause MADB lead to ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  10. Patient support and advocacy groups 
    ... Foundation Li-Fraumeni Syndrome Association Life Raft Group Lipodystrophy United Little People of America Littlest Tumor Foundation ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
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