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277 Possible Causes for Bilateral Papillary Cystadenoma of the Epididymis, Mutation in the VHL Gene, Sensorineural Hearing Loss Associated with ELSTs

  • Von Hippel-Lindau Disease

    To date, nearly 400 germline mutations have been found to be involved in VHL disease according to the public Human Gene Mutation Database (HGMD).[ncbi.nlm.nih.gov] ., ) Genitourinary Internal Genitalia Male: epididymal cyst bilateral papillary cystadenoma of the epididymis bilateral papillary cystadenomas of the broad ligament Head And[malacards.org] Association between papillary cystadenoma of the epididymis (PCE) and Von Hippel-Lindau Disease (VHLD) is well known and stronger for bilateral tumors.[ncbi.nlm.nih.gov]

  • Papillary Cystadenoma

    As the VHL gene is believed to function as a tumor suppressor gene, VHL gene mutations may play a role in the initiation of tumorigenesis in sporadic cystadenomas of the epididymis[ncbi.nlm.nih.gov] Considerations include: epididymal cysts spermatoceles teratomas adenomatoid tumors of the scrotum Patients with bilateral papillary cystadenomas of the epididymis should[radiopaedia.org] Papillary cystadenoma can occur uni- or bilaterally, most frequently in the head of the epididymis.[ncbi.nlm.nih.gov]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Papillary Cystadenoma of the Kidney

    Neither VHL gene mutation nor VHL LOH is found in papillary renal carcinoma.[ommbid.mhmedical.com] […] sac tumor, and bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women).[5][6] Angiomatosis occurs in 37.2% of patients presenting[slideshare.net] Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.[familialcancerdatabase.nl]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Renal Cell Carcinoma

    Mutation of the VHL gene may be found. The less common papillary variant of renal cell carcinoma is shown below. Note the eosinophilic cytoplasm.[library.med.utah.edu] cystadenoma of epididymis, pheochromocytoma Hereditary papillary renal cell carcinoma Due to activating mutation of MET oncogene at chromosome 7q31 Autosomal dominant, late[pathologyoutlines.com] gene; and a clear-cell tumour had a somatic mutation in the VHL gene and increased VHL promoter methylation.[bhdsyndrome.org]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Retinal Angioma

    A mutation of the VHL gene could be detected in 6 patients; in 1 of these patients, this mutation of the VHL gene was the only evidence of VHL.[ncbi.nlm.nih.gov] Genetics This is an autosomal dominant cancer susceptibility disorder caused by a mutation in the VHL gene located at 3p26-p25.[disorders.eyes.arizona.edu] Patients were evaluated for type of angioma, presence of other VHL lesions, and mutations of the VHL gene.[ncbi.nlm.nih.gov]

    Missing: Bilateral Papillary Cystadenoma of the Epididymis Sensorineural Hearing Loss Associated with ELSTs
  • Cystadenoma

    […] of the VHL gene and affecting central nervous system, inner ear, kidneys and adrenal glands [ 1 ].[pancreas.imedpub.com] Bilateral papillary cystadenoma of the epididymis as a component of von Hippel-Lindau's syndrome: report of a case presenting as infertility.[archivesofpathology.org] American Urological Association - Papillary Cystadenoma of Epididymis (PCE) Image A Image B 1/3 associated with von Hippel-Lindau disease, in which cases tumors are often[auanet.org]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Familial Pheochromocytoma

    Investigation of this kindred confirmed that a mutation in the VHL gene could produce isolated pheochromocytomas as the only clinical feature and was variably penetrant.[ncbi.nlm.nih.gov] A mutational analysis of the VHL gene revealed a novel nucleotide 709 G-- T transversion present in all affected subjects and in four presymptomatic children.[ncbi.nlm.nih.gov] […] in the vHL tumor suppressor gene was found (C775G transversion with a predicted substitution of a leucine by a valine at codon 259 in the putative vHL protein).[ncbi.nlm.nih.gov]

    Missing: Bilateral Papillary Cystadenoma of the Epididymis Sensorineural Hearing Loss Associated with ELSTs
  • Hemangioblastoma

    […] caused by a germline mutation in the VHL tumor suppressor gene.[ncbi.nlm.nih.gov] The mutations in the VHL gene that result in VHL disease are highly varied, and may range from single base pair substitution in a single amino acid codon to the complete deletion[clinicalgate.com] The VHL gene behaves as a tumor suppressor, i.e. mutation of the VHL gene predisposes individuals to development of a wide variety of benign and malignant tumors.[wikidoc.org]

    Missing: Bilateral Papillary Cystadenoma of the Epididymis Sensorineural Hearing Loss Associated with ELSTs
  • Hereditary Pheochromocytoma-Paraganglioma

    Von Hippel-Lindau syndrome (VHL) caused by mutations in the VHL gene. Neurofibromatosis I (NF1) caused by mutations in the NF1 gene.[dana-farber.org] More than 400 different VHL mutations are known so far. Approximately 43 per cent of the VHL type 2 families have a mutation in codon 167 of the VHL gene.[em-consulte.com] Von Hippel-Lindau Syndrome von Hippel-Lindau (vHL) Sydrome is caused by a mutation in the vHL gene on chromosome 3. vHL includes brain tumors (hemangioblastomas), eye tumors[columbiasurgery.org]

    Missing: Bilateral Papillary Cystadenoma of the Epididymis Sensorineural Hearing Loss Associated with ELSTs
  • Birt-Hogg-Dubé Syndrome

    No VHL or tyrosine kinase domain MET gene mutations were found in 13 patients from 9 families with renal oncocytomas.[jamanetwork.com] […] sac tumor, and bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women).[5][6] Angiomatosis occurs in 37.2% of patients presenting[slideshare.net] Families with BHD did not display mutations in the VHL gene or the tyrosine kinase domain of the MET proto-oncogene.[jamanetwork.com]

    Missing: Sensorineural Hearing Loss Associated with ELSTs