PedAM

Pediatric Disease Annotations & Medicines

Disease	von hippel-lindau syndrome
Phenotype	C0019562\|von hippel-lindau disease
Sentences	10
PubMedID- 24531117	von hippel-lindau disease (vhl) is a progressive multi-system familial tumor syndrome characterized by phenotypically similar vascular tumors in the central nervous system (cns) and viscera1.
PubMedID- 23762681	Although regional anesthesia is usually employed for cesarean sections, a standard anesthetic method for systemic vms, such as brbns and von hippel-lindau disease, remains controversial, particularly in cases of nervous system involvement [13–15].
PubMedID- 25594584	The possibilities of von hippel-lindau disease, tuberous sclerosis complex, hereditary papillary rcc, and hereditary leiomyomatosis rcc were carefully examined and excluded in all patients by thorough medical examination and family history.
PubMedID- 22799452	von hippel-lindau disease is caused by germ-line mutations in the vhl tumor suppressor gene located on the short arm of chromosome 3 (3p25-26).
PubMedID- 23101875	Our patient had an extensive medical history related to von hippel-lindau disease, including previous right adrenalectomy for a phaeochromocytoma, right partial nephrectomy for renal cell carcinoma, posterior fossa surgery for a cerebellar hemangioblastoma, left partial nephrectomy for a renal cell carcinoma, and multiple pulmonary emboli resulting in the insertion of an inferior vena cava filter.
PubMedID- 21673679	von hippel-lindau disease arises from heterozygous germline mutations in the vhl tumour suppressor gene, which resides on chromosome 3p25, and it is characterised by clear cell rcc, hemangiomas, pheochromocytomas, and other tumour types (linehan et al, 2003).
PubMedID- 23968328	We observed 38-year-old hemodialyzed male patient diagnosed with von hippel-lindau disease in 2008 who was admitted to the department of nephrology, endocrinology and metabolic diseases, medical university of silesia in katowice with significant anemia, increased number of leukocytes, pneumonia and with suspected endocarditis.
PubMedID- 25885645	von hippel-lindau disease (vhl) is an autosomal dominant systemic syndrome that results from a mutation in the vhl gene on chromosome 3 (3p25-26) [1].
PubMedID- 23843721	von hippel-lindau disease is a dominantly inherited cancer syndrome associated with the formation of hypervascularized neoplasms of the kidney, retina, pancreas, adrenal gland, and central nervous system.142vhl inactivation, either through sequence alterations or promoter methylation in tumor dna, was reported in 86.6% of clear cell renal cell carcinoma cases.143vhl mutations are also observed in sporadic renal cancers.
PubMedID- 26254120	von hippel-lindau disease occurs as the result of a mutation in the vhl gene located on chromosome 3p25-26, which encodes pvhl, a protein located in the cytoplasm and endoplasmic reticulum and required for ciliogenesis.

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