Hereditary Leiomyomatosis and Renal Cell Carcinoma

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Hereditary Leiomyomatosis and Renal Cell Carcinoma is not the name you expected.

Disorder Subdivisions

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General Discussion

Hereditary leiomyomatosis and renal cell carcinoma, also known as HLRCC, is a rare genetic disorder characterized by smooth muscle growths (leiomyomas) on the skin and uterus and an increased risk of developing kidney (renal) cancer. Skin growths may appear as appear as small, firm bumps (papules) or tiny lumps (nodules) and are not cancerous (benign). Uterine leiomyomas, also known as uterine fibroids, may be numerous and are also benign, but can cause symptoms such as heavy menstrual periods or pelvic pressure or pain. Affected individuals are at an increased risk of developing kidney cancer, particularly a form known as type II papillary renal cell carcinoma. Kidney cancer associated with HLRCC is cancerous (malignant) and can be aggressive and spread (metastasize) to other areas of the body. HLRCC is caused by mutations in the fumarate hydratase (FH) gene and is inherited as an autosomal dominant trait.
HLRCC is classified as a hereditary renal cancer syndrome, a group of disorders characterized by a genetic predisposition to renal cancer along with other symptoms. There are at least 10 identified hereditary renal cancer syndromes including Von-Hippel-Lindau disease, Birt-Hogg-Dube syndrome, and hereditary papillary renal cell carcinoma. The association of leiomyomas and uterine fibroids as a genetic disorder was first described in the medical literature by Dr. Reed in 1973 and subsequently termed multiple cutaneous and uterine leiomyoma (MCUL) or Reed's syndrome. The additional association with renal carcinoma was not established until 2001 (Launonen et al.).

Supporting Organizations

BHD Foundation

BHD Foundation c/o Myrovlytis Trust
26 Cadogan Square
London SW1X 0JP
Tel: +44 (0) 207 052 0088


American Society of Clinical Oncology
2318 Mill Road Suite 800
Alexandria, VA 22314
Tel: (571)483-1780
Fax: (571)366-9537
Tel: (888)651-3038

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311

HERS Foundation

422 Bryn Mawr Avenue
Bala-Cynwyd, PA 19004
Tel: (610)667-7757
Fax: (610)667-8096
Tel: (888)750-4377

Kidney Cancer Association

P.O. Box 803338 #38269
Chicago, IL 60680-3338
Tel: (847)332-1051
Fax: (847)332-2978
Tel: (800)850-9132

Myrovlytis Trust

26 Cadogan Square
London, SW1X 0JP
United Kingdom
Tel: +44 (0)20 7193 8921

Rare Cancer Alliance

1649 North Pacana Way
Green Valley, AZ 85614

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  7/14/2015
Copyright  2014 National Organization for Rare Disorders, Inc.