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References OMIM Gene GeneReviews HGMD HGNC
last update : 7/07/2006
Symbol HLRCC
Location 1q42.1
Name hereditary leiomyomatosis
Corresponding gene FH
Other symbol(s) LRCC
Main clinical features
  • cancer syndrome with predisposition to uterine leiomyomas and papillary renal cell carcinoma
  • Genetic determination autosomal dominant
    Related entries . MCUL1, FHD
    Function/system disorder kidney and urinary tract
    Type susceptibility factor
    Gene product
    Name fumarate hydratase catalyses the conversion of fumarate to malate in the Krebs cycle
    Gene mutationChromosome rearrangementEffectComments
    frameshift     germline mutations
    missense     germline mutations, common mutations R190H and R58X
    Remark(s) germline mutations in the FH gene are also associated with MCUL1 and the recessive fumarate hydratase deficiency
    Genotype/Phenotype correlations expression of cutaneous manifestations ranges from absent to mild to severe ; no genotype-phenotype correlations were identified.