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Renal Cystadenocarcinoma and Nodular Dermatofibrosis
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Renal Cystadenocarcinoma and Nodular Dermatofibrosis
OMIA
1335
Gene Name
FLCN
Mutation
c.764A>G
Test Type
Genetic Disease/Disorder
Details
Renal Cystadenocarcinoma and Nodular Dermatofibrosis causes a predisposition to kidney cancer. This condition manifests as a combination of abnormal masses in the kidneys. Owners tend to notice small, hard bumps on thier dog, and signs of kidney disease such as drinking more, frequent urination, blood in the urine, depression, and anorexia. Age of onset around 5-7 years of age, or much older.
Details 2
The disease is characterized by bilateral, multifocal tumors in the kidneys, uterine leiomyomas and nodules in the skin consisting of dense collagen fibers. (Lingaas et al, 2003)
Published
Lingaas, F., Comstock, K.E., Kirkness, E.F., Sørensen, A., Aarskaug, T., Hitte, C., Nickerson, M.L., Moe, L., Schmidt, L.S., Thomas, R., Breen, M., Galibert, F., Zbar, B., Ostrander, E.A. : A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum Mol Genet 12:3043-53, 2003. Pubmed reference: 14532326. DOI: 10.1093/hmg/ddg336.
Body/System/Process
Renal
OMIA Url
Inheritance
AD
Breed Specific Info
Researched Breeds
German Shepherd Dog
