eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | von hippel-lindau disease |
| Comorbidity | C0019562|von hippel-lindau disease |
| Sentences | 6 |
| 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- 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- 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- 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- 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- 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. |
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