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352 Possible Causes for Mutation in the VHL Gene, Retinal Angioma, 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] Retinal angiomas Retinal angiomas are actually hemangioblastomas found in the eye.[symptoma.com] ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org]

  • 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] Capillary retinal angioma was confirmed by histology of the surgical specimen, and familial VHL was revealed.[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]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Cerebellar Hemangioblastoma

    No VHL gene mutations were found using whole blood.[surgicalneurologyint.com] Because VHL disease is a neoplasia syndrome, the patient may have concurrent cancerous lesions (eg, retinal angiomas, renal cell carcinomas) that require treatment. 11 Moreover[consultant360.com] Advances in treatment of retinal angiomas. Int Ophthalmol Clin, 37 (1997), pp. 150–170[eyewiki.aao.org]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Hemangioblastoma

    […] caused by a germline mutation in the VHL tumor suppressor gene.[ncbi.nlm.nih.gov] Retinal Angioma: The term “retinal angioma” has been used to refer to lesions that are most likely retinal hemangioblastomas.[massgeneral.org] Advances in treatment of retinal angiomas. Int Ophthalmol Clin, 37 (1997), pp. 150–170[eyewiki.aao.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] In addition to pheochromocytoma (often bilateral) and rarely paragangliomas, von Hippel-Lindau syndrome is also associated with retinal angiomas, cerebellar hemangioblastoma[healio.com] 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]

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

    It is caused by mutations in the VHL gene.[symptoma.com] Those that never develop hRCC may still present with retinal angiomas or hemangioblastomas of the central nervous system, or remain asymptomatic.[symptoma.com] Carriers of VHL mutations are prone to develop clear cell RCC, but also angioma and hemangioblastoma of the retina or the central nervous system, and pheochromocytoma.[symptoma.com]

    Missing: 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] angiomas (eye tumors), central nervous system hemangioblastomas (brain tumors), renal cell (kidney) carcinoma, renal and pancreatic cysts, pancreatic endocrine tumors, and[endocrinediseases.org] Genetic testing is indicated in first-degree relatives of individuals with pathogenic variants in VHL, as well as any child diagnosed with any of the following: Retinal angioma[clincancerres.aacrjournals.org]

    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] In approximately 40 % of cases, the retinal tumors are the first manifestation of VHL and apparently sporadic retinal angioma patients should be checked for other VHL symptoms[familialcancerdatabase.nl] Almost every individual with a mutated VHL gene displays symptoms of Von Hippel-Lindau syndrome by age 65.[chop.edu]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Pheochromocytoma

    Another disease associated with pheochromocytomas is Von Hippel-Lindau disease, which develops when there’s a mutation in the VHL gene which codes for the von Hippel-Lindau[osmosis.org] angiomas), kidney cancer (renal cell carcinoma), kidney and pancreas cysts, pancreas tumors (neuroendocrine tumors), epididymal cystadenoma, pheochromocytoma (usually bilateral[columbiasurgery.org] In von Hippel-Lindau syndrome, specific mutations determine the varied clinical manifestations, which, in addition to pheochromocytomas, include retinal angiomas; cerebellar[emedicine.com]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Renal Carcinoma

    Background: Sporadic clear-cell renal cell carcinoma (ccRCC) is associated with mutations in the VHL gene, upregulated mammalian target of rapamycin (mTOR) activity and glycolytic[ncbi.nlm.nih.gov] angiomas Central nervous system (CNS) hemangioblastomas Endolymphatic sac tumors Epididymal cystadenomas Renal cell carcinoma develops in nearly 40% of patients with von[emedicine.medscape.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