Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Familial renal cell carcinoma

Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance -
Age of onset -
ICD-10 -
MeSH -
MedDRA -


Familial renal cell carcinoma syndromes form a group of diseases characterised by a predisposition to development of renal cell carcinomas (RCCs) with various histological subtypes. The annual worldwide incidence of renal cell carcinomas (RCCs) is estimated at around 1 in 50,000 but the annual incidence of familial RCC syndromes is less than 1 in 1 500,000. The principle familial RCC syndromes listed in the WHO classification of renal tumours are Von Hippel-Lindau disease, tuberous sclerosis, RCC associated with chromosome 3 translocations, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube syndrome, familial oncocytoma and hereditary leiomyomatosis - RCC (see these terms). Management depends on the stage and type of tumour present. In 2006, the protein kinase inhibitor sorafenib obtained EU marketing authorisation as a second line treatment for advanced stage renal cell carcinoma and may be used for the treatment of some familial renal cell carcinoma syndromes.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Review article
  • EN (2009)
  • IT (2009)
Clinical practice guidelines
  • EN (2011)
  • FR (2010)
Article for general public
  • IT (2009)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.