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Results 1 - 9 of 9 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. 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
  7. 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
  8. Wiedemann-Rautenstrauch syndrome 
    ... a lack of fatty tissue under the skin (lipodystrophy), particularly in the face, arms, and legs. In ... not show signs and symptoms of the condition. Congenital pseudohydrocephalic progeroid syndrome Neonatal progeroid syndrome Neonatal pseudo- ...
    https://medlineplus.gov/.../wiedemann-rautenstrauch-syndrome - Genetics
  9. 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