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Results 1 - 5 of 5 for Congenital generalized lipodystrophy
  1. Congenital generalized lipodystrophy 
    Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack ... stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  2. AGPAT2 gene 
    ... AGPAT2 gene have been identified in people with congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 1. ... 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
  3. CAVIN1 gene 
    ... the CAVIN1 gene have been found to cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 4. ... bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional ... lipodystrophy type 4 include muscle weakness, delayed development, joint ...
    https://medlineplus.gov/genetics/gene/cavin1 - Genetics
  4. CAV1 gene 
    ... the CAV1 gene has been found to cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 3. ... bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional features ... generalized lipodystrophy type 3 include poor growth and short stature. ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  5. BSCL2 gene 
    ... BSCL2 gene have been identified in people with congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 2. ... Most of the BSCL2 gene mutations that cause congenital generalized lipodystrophy type 2 lead to the production of a ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics