Lipedema

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OMIM 57 614103 Orphanet 59 ORPHA77243 UMLS via Orphanet 74 C0398370 ICD10 via Orphanet 34 E65

MedGen 42 C0398370 SNOMED-CT via HPO 69 263681008 71325002 102572006 234102003 more UMLS 73 C0398370

NIH Rare Diseases : ⁵³ 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). Affiliated tissues include skin, bone and adipocyte, and related phenotypes are lipodystrophy and edema of the lower limbs

OMIM : ⁵⁷ 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 : ⁷⁶ 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

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Search GEO for disease gene expression data for Lipedema.