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Renal Cystadenocarcinoma and Nodular Dermatofibrosis (German Shepherd Type)
Test Overview:
Renal cystadenocarcinoma and nodular dermatofibrosis is an inherited genetic predisposition to kidney, dermal and uterine cancer in dogs. This condition manifests as a combination of abnormal masses in the kidneys and the skin of both male and female dogs and also the uterus in female dogs. Affected dogs usually present around 6.5 years of age with small, firm bumps under the surface of the skin, more commonly located on the limbs and head. The kidney tumors often form nodular masses and cysts that can cause the kidneys to become enlarged, abnormally shaped and scarred. Affected dogs often show signs of chronic kidney disease which may include frequent urination, blood in the urine, frequent drinking, depression, inappetence and weight loss. The disease typically presents over the age of 5, and tumors may not develop until dogs are 9 to 11 years of age. The average age of death for affected dogs is 9.3 years due to renal failure or metastatic disease. Puppies that inherit two copies of the FLCN gene Mutation most likely die very early in gestation; therefore, breeding two dogs with renal cystadenocarcinoma and nodular dermatofibrosis may result in reduced litter size.
Category:
Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra
Gene:
FLCN on Chromosome 5
Variant Detected:
Base Substitution of A> c.764A>G
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Dominant
Research Citation(s):
Hum Mol Genet. 2003 Dec 1;12(23):3043-53
Proc Natl Acad Sci U S A. 2000 Apr 11; 97(8):4132-7. [PubMed: 10759551]
Associated Breed(s):
German Shepherd Dog, Mixed Breed, White Swiss Shepherd,
