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Browse result for Hereditary leiomyomatosis and renal cell cancer

※ introduction

    Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) or Reed's syndrome is rare autosomal dominant disorder associated with benign smooth muscle tumors and an increased risk of renal cell carcinoma. It is characterised by multiple cutaneous leiomyomas and, in women, uterine leiomyomas. It predisposes individuals to renal cell cancer, an association denominated hereditary leiomyomatosis and renal cell cancer. It is also associated with increased risk of uterine leiomyosarcoma. The syndrome is caused by a mutation in the fumarate hydratase gene, which leads to an accumulation of fumarate. The inheritance pattern is autosomal dominant and screening can typically begin in childhood.

Reference
Wiki: Hereditary leiomyomatosis and renal cell cancer



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00514P079542271
FH
Fumarate hydratase, mitochondrial
Homo sapiens