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Hereditary Leiomyomatosis and Renal Cell Cancer

Official Community

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Reed’s Syndrome is one of several rare familial syndromes involving kidney cancer and is caused by mutations in the Fumarate Hydratase (FH) Gene. The key symptoms of which only some MAY occur are (i) Cutaneous Piloleiomyomas (Skin Lumps) (ii) Uterine Leiomyomas (Fibroids) (iii) Papillary Type 2 or Collecting Duct Renal Cell Carcinoma (RCC is Kidney Cancer). Fumarase Deficiency or fumaric aciduria is an associated ultra-rare condition caused normally by both parents having mutations in the Fumarate Hydratase (FH) Gene.

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