Lipodystrophy, familial partial, type 6
| Disorder | |
|---|---|
| OMIM #: | #615980 (Click to access OMIM database) |
| Disorder: | Lipodystrophy, familial partial, type 6 |
| Also known as: | FPLD6 |
| Clinical | |
| Phenotype: | dyslipidemia, hepatic steatosis, systemic insulin resistance, type 2 diabetes, body fat redistribution |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | LIPE |
| Base Change: | c.3203_3221del19 |
| Amino Acid Change: | p.Val1068Glyfs*102 |
| Last updated: | 2023-02-01 |
| References |
|---|
| Albert JS, Yerges-Armstrong LM, Horenstein RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR, Gong DW, Breyer RJ 3rd, Ryan AS, McLenithan JC, Shuldiner AR, Sztalryd C, Damcott CM. (2014) Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes. N Engl J Med Jun 12;370(24):2307-2315. PubMed ID: 24848981 |
Back