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PedAM

Pediatric Disease Annotations & Medicines




Disease von hippel-lindau syndrome
Phenotype C0019562|von hippel-lindau syndrome
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PubMedID- 24678933 This case highlights that we should be aware of possible sporadic von hippel-lindau syndrome in patients with multifocal paragangliomas.
PubMedID- 26268347 The spectrum of von hippel-lindau syndrome includes chuvash polycythaemia, otherwise referred to as familial erythrocythemia type 2. this is a rare form of the disease not associated with tumours and its incidence is particularly high in the chuvash population inhabiting the volga river region [1, 6].
PubMedID- 26557756 von hippel-lindau syndrome (vhl) is an autosomal, dominantly inherited disease in which the most frequent tumours are retinal and central nervous system haemangioblastomas, clear cell renal carcinoma, phaeochromocytoma and pancreatic cystic and/or endocrine tumours [61–64].
PubMedID- 21569521 von hippel-lindau syndrome, multiple endocrine neoplasia type 2, and neurofibromatosis type 1); these are usually diagnosed before age 40, and in most cases require genetic testing.
PubMedID- 22584712 As a rule, all tumorous components of von hippel-lindau syndrome can be effectively treated if diagnosed in time.

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