A family with coexistent von Recklinghausen's neurofibromatosis and von Hippel-Lindau's disease. Diseases possibly derived from a common gene.
A large kindred has two coexistent neurocutaneous syndromes: Certain members appear to have von Recklinghausen's neurofibromatosis (cutaneous neurofibromata, cafe-au-lait spots), others have von Hippel-Lindau's disease (angiomatosis retinae, renal cell carcinomas, pancreatic cysts), and at least one individual has a combined syndrome (neurofibromata, cafe-au-lait spots, pheochromocytomas, cerebellar hemangioblastoma, renal cell carcinoma, pancreatic cysts). Inheritance may be through either two separate genes segregating coincidentally in this family, or a unique single gene with pleiotropic expressivity.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000798:Angiomatosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000235:genetics*