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Results 1 - 5 of 5 for Congenital generalized lipodystrophy type 1
  1. Congenital generalized lipodystrophy 
    ... to the features described above, some people with congenital generalized lipodystrophy type 1 develop cysts in the long bones of the ... the AGPAT2, BSCL2, CAV1, and CAVIN1 genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  2. AGPAT2 gene 
    ... diabetes mellitus.The AGPAT2 gene mutations that cause congenital generalized lipodystrophy type 1 greatly reduce or eliminate the activity of the ... fat underlies the varied signs and symptoms of congenital generalized lipodystrophy type 1. More About This Health Condition 1-acyl-sn- ...
    https://medlineplus.gov/genetics/gene/agpat2 - Genetics
  3. CAV1 gene 
    ... this protein leads to the particular features of congenital generalized lipodystrophy type 3. However, the absence of caveolin-1 likely disrupts the normal development and function of ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  4. CAVIN1 gene 
    ... fat and the other health problems associated with congenital generalized lipodystrophy type 4. More About This Health Condition CAVIN cavin-1 CGL4 FKSG13 polymerase I and transcript release factor ...
    https://medlineplus.gov/genetics/gene/cavin1 - Genetics
  5. BSCL2 gene 
    ... Most of the BSCL2 gene mutations that cause congenital generalized lipodystrophy type 2 lead to the production of a nonfunctional ... underlies most of the signs and symptoms of congenital generalized lipodystrophy type 2. A loss of seipin function in the ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics