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Genetic and Rare Diseases Information Center (GARD)

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Hereditary leiomyomatosis and renal cell cancer


Other Names for this Disease

  • Familial leiomyomatosis
  • HLRCC
  • LRCC
  • MCL
  • MCUL
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.[1]
Last updated: 1/9/2014

References

  1. Pithukpakorn M, Toro J. Hereditary leiomyomatosis and renal cell cancer. GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hlrcc#hlrcc.References. Accessed 7/31/2009.
Your Questions Answered
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Hereditary leiomyomatosis and renal cell cancer. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference has a page on leiomyoma that includes some information on hereditary leiomyomatosis and renal cell cancer. You may need to register to view this medical reference page, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    The Online Mendelian Inheritance in Man (OMIM)
    The Online Mendelian Inheritance in Man (OMIM)
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary leiomyomatosis and renal cell cancer. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial leiomyomatosis
  • HLRCC
  • LRCC
  • MCL
  • MCUL
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.