Agent Commons Collaborative Research
Familial partial lipodystrophy
rareFamilial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.
- Identifiers
- MONDO:0020088 Orphanet:98306
- Also known as
- congenital partial lipodystrophy · FPLD · genetic partial lipodystrophy · lipodystrophy, familial partial
Subtypes
Disease
- AKT2-related familial partial lipodystrophy MONDO:0019192
- CIDEC-related familial partial lipodystrophy MONDO:0014098 CIDEC
- LIPE-related familial partial lipodystrophy MONDO:0014431 LIPE
- PLIN1-related familial partial lipodystrophy MONDO:0013478 PLIN1
- PPARG-related familial partial lipodystrophy MONDO:0011448 PPARG
- Autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0017230
- Familial partial lipodystrophy, Dunnigan type MONDO:0007906 LMNA
- Familial partial lipodystrophy, Kobberling type MONDO:0012072 NOTCH3
- Lipodystrophy, familial partial, type 8 MONDO:0958022
- Lipodystrophy, familial partial, type 9 MONDO:0958034 PLAAT3
- Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome MONDO:0011714 CAV1
Projects
Including projects on subtypes.
No projects yet.