Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P56851 (epididymal)
 11,273 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical features, age at onset and survival of 152 patients with von Hippel-Lindau disease were studied. Mean age at onset was 26.3 years and 97 per cent of patients had presented by aged 60 years. Retinal angioma was the first manifestation in 65 patients (43 per cent), followed by cerebellar haemangioblastoma (n = 60, 39 per cent) and renal cell carcinoma (n = 15, 10 per cent). Overall, 89 patients (59 per cent) developed a cerebellar haemangioblastoma, 89 (59 per cent) a retinal angioma, 43 (28 per cent) renal cell carcinoma, 20 (13 per cent) spinal haemangioblastoma and 11 (7 per cent) a phaeochromocytoma. Renal, pancreatic and epididymal cysts were frequent findings but their exact incidence was not accurately assessed. Mean age at diagnosis of renal cell carcinoma (44.0 +/- 10.9 years) was significantly older than that for cerebellar haemangioblastoma (29.0 +/- 10.0 years) and retinal angioma (25.4 +/- 12.7 years). The probability of a patient with von Hippel-Lindan disease developing a cerebellar haemangioblastoma, retinal angioma or renal cell carcinoma by age 60 years was 0.84, 0.7 and 0.69, respectively. A comprehensive screening protocol for affected patients and at-risk relatives is presented, based on detailed analysis of age at onset data for each of the major complications. Median actuarial survival was 49 years, with renal cell carcinoma the leading cause of death.
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PMID:Clinical features and natural history of von Hippel-Lindau disease. 227 55

Von Hippel Lindau disease is a highly uncommon autosomic dominant condition characterised by the presence of cerebellar hemangioblastomas, retina angioma, pancreas, kidney and epididymal cysts, and renal cells carcinoma. This article describes the case report of a male patient with Von Hippel Lindau disease which presented as a jaundice secondary to biliary obstruction due to pancreatic cystic mass. After urological examination, bilateral cystic lesions and right renal solid lesion were detected requiring surgical treatment. A review is made of the diagnostic and therapeutic aspects, highlighting the significance of early diagnosis and treatment.
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PMID:[Renal carcinoma and von Hippel-Lindau disease]. 967 24

Nonteratoid prostatic differentiation in the ovary of a parous, phenotypically normal, postmenopausal woman is reported for the first time, to the authors' best knowledge. The patient was a 70-year-old woman who underwent bilateral oophorectomy following pelvic ultrasound examination that showed enlargement of the left ovary and an equivocally abnormal Doppler signal. Histologic examination showed a normal right ovary and a left ovary enlarged by hilar cystic dilatation related to a proliferation of mesonephric remnants exhibiting various types of epithelial metaplasia, including hyperplastic rete and epididymal-like and clear cell epithelia resembling the lining of the seminal excretory system. These were closely associated, occasionally even merging, with a discrete area of prostatic acinar and smooth muscle differentiation in the cyst wall. The identity of the prostatic tissue was confirmed immunohistochemically by positive staining with prostate specific antigen and prostatic acid phosphatase. The lesion was associated with an incidental, microscopic hemangioma. A developmental malformative origin of this abnormality cannot satisfactorily be explained by current embryologic concepts. A hypothesis of a metaplastic induction of prostatic tissue by mesonephric remnants is proposed, since complex metaplastic changes coexisted within the cysts and even showed epithelial transitions with the prostatic acini.
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PMID:Ovarian prostatic tissue originating from hilar mesonephric rests. 998 52

von Hippel-Lindau disease (VHL) is an autosomal dominant, familial neoplastic disorder with variable interfamilial and intrafamilial expression. VHL is characterized by pre-disposition to development of a combination of benign and malignant tumours affecting multiple organs. We provide molecular evidence of somatic mosaicism in nearly asymptomatic man whose daughter had VHL. The mosaic subject was found to have a cyst of the kidney and an angioma of the glans penis and had had surgery for a mandibular cyst and epididymal cystadenomas. Mosaicism could provide a genetic explanation for the clinical heterogeneity and variable severity of VHL. The real incidence of mosaicism is still unclear and the identification of mosaicism has important consequences in genetic counseling of VHL patients who appear to have de novo VHL mutations and should be considered when evaluating patients with isolated VHL-related tumours. Our results strongly suggest a complete and extensive clinical examination in the parents of each patient affected by an apparently de novo VHL germline mutation. We recommend performing a mutation screening of both parents of a proband with techniques that permit detection of low percentages of mosaicism before concluding that the proband has a de novo VHL mutation.
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PMID:Mosaicism in von Hippel-Lindau disease: an event important to recognize. 1820 10