multiple cutaneous & uterine leiomyomata (MCUL1)

Genetics

• autosomal dominant
• associated with defects in fumarase gene

Clinical manifestations

• affected individuals develop benign smooth muscle tumors (leiomyomata) of the skin
• affected females also usually develop leiomyomata of the uterus (fibroids)

More general terms

• carbohydrate inborn error of metabolism

Additional terms

• fumarase deficiency (fumaric aciduria)
• hereditary leiomyomatosis & renal cell cancer (HLRCC)

Database

• OMIM: https://mirror.omim.org/entry/150800