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278 Possible Causes for Mutation in the VHL Gene, Sensorineural Hearing Loss Associated with ELSTs, Sporadic Cerebellar Hemangioblastoma

  • Von Hippel-Lindau Disease

    Molecular genetic analysis of the von Hippel-Lindau disease tumour suppressor gene in familial and sporadic cerebellar hemangioblastomas.[doi.org] 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] ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org]

  • Hemangioblastoma

    […] caused by a germline mutation in the VHL tumor suppressor gene.[ncbi.nlm.nih.gov] The patient received a diagnosis of sporadic cerebellar hemangioblastoma. Treatment.[consultant360.com] 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]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Cerebellar Hemangioblastoma

    No VHL gene mutations were found using whole blood.[surgicalneurologyint.com] The patient received a diagnosis of sporadic cerebellar hemangioblastoma. Treatment.[consultant360.com] Von Hippel-Lindau disease is an autosomal dominant disorder caused by a mutation of VHL gene.[ncbi.nlm.nih.gov]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Retinal Angioma

    Sprenger,-S-H; Gijtenbeek,-J-M; Wesseling,-P; Sciot,-R; van-Calenbergh,-F; Lammens,-M; Jeuken,-J-W Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas[malattierare.regione.veneto.it] 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]

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

    Sprenger,-S-H; Gijtenbeek,-J-M; Wesseling,-P; Sciot,-R; van-Calenbergh,-F; Lammens,-M; Jeuken,-J-W Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas[malattierare.regione.veneto.it] Neither VHL gene mutation nor VHL LOH is found in papillary renal carcinoma.[ommbid.mhmedical.com] Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.[familialcancerdatabase.nl]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Renal Carcinoma

    Molecular genetic analysis of the von Hippel-Lindau disease tumor suppressor gene in familial and sporadic cerebellar hemangioblastomas.[ncbi.nlm.nih.gov] 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] 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
  • 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: Sensorineural Hearing Loss Associated with ELSTs Sporadic Cerebellar Hemangioblastoma
  • 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: Sensorineural Hearing Loss Associated with ELSTs Sporadic Cerebellar Hemangioblastoma
  • Polycythemia

    H&O What is the role of von Hippel–Lindau (VHL) tumor suppressor gene mutations? VG VHL is a gene involved in the hypoxia-sensing pathway.[hematologyandoncology.net] Endemic polycythemia in Russia: mutation in the VHL gene. Blood Cells Mol. Dis. 28, 57–62 (2002). 7 Maxwell, P.H. et al.[doi.org] Subsequent studies of Chuvash polycythemia in the past 10–12 years have shown that the condition is caused by a specific mutation in the VHL gene that results in an R200W[hematologyandoncology.net]

    Missing: Sensorineural Hearing Loss Associated with ELSTs Sporadic Cerebellar Hemangioblastoma
  • Erythrocytosis

    Chuvash polycythemia (in which a mutation in the VHL gene affects the hypoxia-sensing pathway) Right to left arteriovenous shunts in the lungs Proline hydroxylase 2 and hypoxia-inducible[msdmanuals.com] Familial erythrocytosis can result from mutations in the EPOR, VHL, EGLN1, or EPAS1 gene.[ghr.nlm.nih.gov] […] affecting the VHL tumor suppressor gene, producing an abnormal VHL protein. 24, 25 The mutation in the VHL gene disrupts the normal mechanism of hypoxia sensing, ultimately[clinicalgate.com]

    Missing: Sensorineural Hearing Loss Associated with ELSTs Sporadic Cerebellar Hemangioblastoma