| Health / Medical Topics |
Familial Partial Lipodystrophy
An autosomal dominant inherited disorder that appears in childhood or adolescence. It is characterized by loss of adipose tissue in the extremities and accumulation of adipose tissue in the face and neck. (NCI Thesaurus)
YOU MAY ALSO LIKE
An inherited form of medullary thyroid cancer (cancer that forms in the cells of the thyroid that make the hormone calcitonin). …
A usually autosomal recessive inherited inflammatory disorder caused by mutations in the MEFV gene. It is characterized by recurrent painful inflammatory attacks…
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present…
A rare inherited condition in which one or more tumors form in the parathyroid glands (four pea-sized organs found on the thyroid)…
Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.
A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D,…
