Lipedema

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OMIM 58 614103 ICD10 via Orphanet 35 E65 UMLS via Orphanet 75 C0398370 Orphanet 60 ORPHA77243

MedGen 43 C0398370 SNOMED-CT via HPO 70 102572006 20741006 234102003 263681008 267038008 423666004 71325002 79654002 more UMLS 74 C0398370

NIH Rare Diseases : ⁵⁴ Lipedema is a disorder characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin. It is a common condition, occurring almost exclusively in women (affecting up to 11% of women). The cause of lipedema is unknown; however, there is evidence of hormonal and hereditary influences. Many people with lipedema have a family history of similarly enlarged legs. While there is no one effective treatment for lipedema, a number of therapies may be useful in managing symptoms.

MalaCards based summary : Lipedema is related to lymphedema and sotos syndrome 1. An important gene associated with Lipedema is NSD1 (Nuclear Receptor Binding SET Domain Protein 1). The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and adipocyte, and related phenotypes are lipodystrophy and pedal edema

OMIM : ⁵⁸ Lipedema is a disorder of adipose tissue characterized by fat legs and orthostatic edema. Characteristically, the buttocks and other parts of the lower extremities are symmetrically enlarged owing to accumulation of excess fat and fluid. The condition affects women almost exclusively and, in most instances, represents an exaggeration of the female form (summary by Hines, 1952). (614103)

Wikipedia : ⁷⁷ Lipedema is a disorder where there is enlargement of both legs due to deposits of fat under the skin.... more...

Clinical features from OMIM:

614103

Search NIH Clinical Center for Lipedema

Search GEO for disease gene expression data for Lipedema.