hereditary leiomyomatosis & renal cell cancer (HLRCC)

Genetics

• associated with defects in fumarase gene

More general terms

• carbohydrate inborn error of metabolism

Additional terms

• fumarase deficiency (fumaric aciduria)
• multiple cutaneous & uterine leiomyomata (MCUL1)

Database

• OMIM: https://mirror.omim.org/entry/605839