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)

von Hippel-Lindau syndrome (HLS), an autosomal-dominant inherited disease, was studied in 92 affected subjects from 29 kindreds. In an initial survey to identify HLS gene carriers, all patients treated at the University of Freiburg for angiomatosis retinae (22), haemangioblastoma of the central nervous system (CNS) (63), and phaeochromocytoma (54) were examined as potential HLS gene carriers. HLS was diagnosed in 86% of the patients with angiomatosis retinae, 19% of the patients with haemangioblastoma of the CNS, and 19% of the patients with phaeochromocytoma. Based on these and on an additional 49 newly diagnosed cases (24 by clinical examination and 25 by pedigree analysis), the calculated prevalence of the disease in the district of Freiburg, Germany, with a population of 1.909 million is 1/38 951. There was a striking tendency for familial clustering of HLS features in affected kindreds. Both angiomatosis retinae and haemangioblastoma of the CNS occurred in most families, whereas renal lesions and/or pancreatic cysts and phaeochromatocytoma were mutually exclusive. This finding suggests that HLS is caused by different mutations within a complex genetic locus, or additional genetic lesions, which cooperate with the HLS gene on chromosome 3p. The data point to a linear sequence of features as follows: phaeochromocytoma, angiomatosis retinae, haemangioblastoma of the CNS, renal lesions, pancreatic cysts, and epididymal cystadenoma.
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PMID:Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. 167 41

Common manifestations of the von Hippel-Lindau syndrome, an autosomally dominant inherited cancer-prone disorder, include retinal angiomatosis, hemangioblastoma of the central nervous system, renal cysts, renal cancer, pheochromocytoma, and epididymal cystadenoma. Multiple cysts and microcystic (serous) cystadenomas of the pancreas have also been reported occasionally in patients afflicted with this syndrome. In the large Freiburg study of the von Hippel-Lindau syndrome composed of 66 affected individuals, pancreatic lesions were systematically studied. Fifty-five living individuals were examined by abdominal ultrasound imaging. Abnormal findings were confirmed by computed tomographic scan and/or magnetic resonance imaging. For an additional 11 decreased patients autopsy data were available. Cystic lesions of the pancreas were found in 10 patients (15%). One of these patients presented with multiple pancreatic cysts as the only manifestation of the syndrome. In one patient, a malignant islet-cell tumor was found at autopsy. Because multiple pancreatic cysts did not cause major clinical symptoms and because follow-up examinations over an average period of 5 years did not show significant progression of the lesions, it is concluded that these patients usually do not require surgical treatment. Abdominal ultrasound screening is recommended for patients at risk as a tool to identify potential von Hippel-Lindau syndrome gene carriers with pancreatic manifestations. In all patients with multiple pancreatic cysts, the von Hippel-Lindau syndrome should be included in the differential diagnosis.
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PMID:Pancreatic lesions in the von Hippel-Lindau syndrome. 206 22

We report a case of bilateral papillary cystadenoma of the epididymis thought to be a component of the von Hippel-Lindau syndrome. The patient was hospitalized initially because of infertility. He had undergone a craniotomy 2 years previously for the diagnosis of a cerebellar hemangioblastoma. Funduscopy had revealed angiomatous lesions of the left eye. The von Hippel-Lindau syndrome is discussed briefly and the importance of long-term urological followup for possible presentation of silent renal carcinoma is emphasized. Patients with bilateral epididymal papillary cystadenoma are prone to have other components of the von Hippel-Lindau syndrome, and clinical studies are indicated in all such patients.
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PMID:Bilateral papillary cystadenoma of the epididymis as a component of von Hippel-Lindau's syndrome: report of a case presenting as infertility. 396 52

Papillary cystadenoma of the epididymis is a rare benign tumor, accounting for only 4 per cent of all epididymal tumors. Histologically, it can be confused with metastatic renal cell carcinoma. We report a case of bilateral involvement of the epididymides and infertility. Its diagnostic significance is its association with the von Hippel-Lindau syndrome, necessitating close surveillance.
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PMID:Bilateral clear cell papillary cystadenoma of the epididymides presenting as infertility: an early manifestation of von Hippel-Lindau's syndrome. 399 14

A case of epididymal cystadenoma, thought to be a component of the von Hippel-Lindau syndrome, is presented. The syndrome is reviewed, and the importance of long-term urologic follow-up for possible presentation of renal cell carcinoma is discussed.
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PMID:Papillary cystadenoma of epididymis: component of von Hippel-Lindau syndrome. 742 16

We report a case of infertility due to obstructive azoospermia determined by papillary cystadenoma of the epididymis. The 28-year-old patient had other signs of von Hippel-Lindau syndrome and died from neurological complications. The possibility of finding an epididymal neoplasm should be kept in mind in any case of azoospermia with epididymal enlargement.
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PMID:Papillary cystadenoma of the epididymis as a cause of obstructive azoospermia. 785 41

Von Hippel-Lindau syndrome is a rare, genetically based, autosomal dominant disorder. Its course is accompanied by the development of multiple neoplasms with the following tumours diagnosed most commonly in the central nervous system haemangioblastoma, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, and endolymphatic sac tumours. Additionally, renal and pancreatic cystadenomas and epididymal cystadenomas have been diagnosed in males and cystadenomas of the broad ligament of the uterus have been diagnosed in females.The following paper presents the diagnostic way in a boy with vision disorders as the first symptom. Hypertension retinopathy and extremely elevated blood pressure were observed during ophthalmologic consultation. Complications of arterial hypertension were confirmed by echocardiography, which diagnosed hypertension cardiomyopathy. Hypertension retinopathy was confirmed by optical coherence tomography. Examinations performed in the neurology, cardiology, and finally endocrinology indicated a bilateral phaeochromocytoma as the cause of arterial hypertension. Moreover, some genetic investigations showed a mutation in the VHL ex.1 p.Y112 C gene responsible for the hereditary form of phaeochromocytoma which confirmed von Hippel-Lindau syndrome. After surgical treatment of phaeochromocytoma the patient needed careful management according to the surveillance protocol for von Hippel-Lindau disease.
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PMID:From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis. 2626 47