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Results 1 - 7 of 7 for lipodystrophy OR "lipodystrophy," congenital
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. SLC25A24 gene 
    ... a lack of fatty tissue under the skin (lipodystrophy), excessive hair growth (hypertrichosis) on the face and ... disorder known as Fontaine syndrome or Petty-type congenital progeroid syndrome. This syndrome has many of the ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics