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Von Hippel Lindau syndrome(VHL)

Von Hippel Lindau syndrome(VHL)

Last Reviewed : 12/29/2020
Von Hippel Lindau syndrome(VHL)

Von Hippel–Lindau disease (VHL) is a disease which results from a mutation in the von Hippel–Lindau tumor suppressorgene on chromosome 3p25.3. VHL disease can be subdivided according to the clinical manifestations, although these groups often correlate with certain types of mutations present in the VHL gene.

Signs and symptoms associated with VHL disease include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Conditions associated with VHL disease include angiomatosis,hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts(pancreatic serous cystadenoma), endolymphatic sac tumor, and bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women). Angiomatosis occurs in 37.2% of patients presenting with VHL disease and usually occurs in the retina. As a result, loss of vision is very common. However, other organs can be affected: strokes, heart attacks, and cardiovascular disease are common additional symptoms. Approximately 40% of VHL disease presents with CNS hemangioblastomas and they are present in around 60-80%. Spinal hemangioblastomas are found in 13-59% of VHL disease and are specific because 80% are found in VHL disease. Although all of these tumours are common in VHL disease, around half of cases present with only one tumour type.

We researched this topic for you and found the following best online resources. They are categorized into basic, advanced, and research level based on the extent of information you need. You will be taken to the respective websites by pressing on the links below.

 

 

 

Basic information:

http://www.cancer.net/cancer-types/von-hippel-lindau-syndrome cancer.net von hippel-lindau syndrome

http://www.news-medical.net/health/what-is-von-hippel-lindau-syndrome.aspx news medical what is von hippel-lindau syndrome?

https://medlineplus.gov/vonhippellindaudisease.html medline plus von hippel lindau disease

http://www.webmd.com/children/von-hippel-lindau-disease web md von hippel lindau disease

http://www.medicinenet.com/script/main/art.asp?articlekey=6006 medicine net medical definition of von hippel-lindau syndrome

http://www.hopkinsmedicine.org/dnadiagnostic/tests/tests/von-hippel-lindau-syndrome-test john hopkins medicine medical library von hippel lindau disease

http://www.merckmanuals.com/professional/pediatrics/neurocutaneous-syndromes/von-hippel%e2%80%93lindau-disease-vhl merck manuals professional version von hippel lindau disease

https://www.symptoma.com/en/info/von-hippel-lindau-disease symptoma von hippel lindau disease

https://www.epainassist.com/genetic-disorders/von-hippel-lindau-syndrome epain assist von hippel lindau disease

http://www.mayoclinic.org/departments-centers/clinical-genomics/overview/specialty-groups/von-hippel-lindau-clinic mayo clinic von hippel-lindau clinic

 

Advanced information:

https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome genetics home reference von hippel lindau disease

http://emedicine.medscape.com/article/1219430-overview medscape von hippel-lindau disease

https://rarediseases.org/rare-diseases/von-hippel-lindau-disease/ national organisation for rare diseases von hippel lindau disease

http://patient.info/in/doctor/von-hippel-lindau-disease patient von hippel lindau disease

https://radiopaedia.org/articles/von-hippel-lindau-disease-5 radiopedia von hippel lindau disease

https://www.aao.org/eyenet/article/diagnosis-treatment-of-von-hippel-lindau-syndrome american association of ophthalmology diagnosis and treatment of von hippel–lindau syndrome

http://www.genome.jp/dbget-bin/www_bget?ds:h00559 genome von hippel lindau disease

http://www.medbullets.com/step1-neurology/13026/von-hippel-lindau-disease med bullets von hippel lindau disease

 

Research:

kumar ps, venkatesh k, srikanth l, sarma pg, reddy ar, subramanian s, phaneendra bv. novel three missense mutations observed in von hippel-lindau gene in a patient reported with renal cell carcinoma. indian j hum genet [serial online] 2013 [cited 2017 jan 27];19:373-6. available from: http://www.ijhg.com/text.asp?2013/19/3/373/120809

ba'arah bt. a case of von hippel-lindau disease with exudative maculopathy. oman j ophthalmol [serial online] 2009 [cited 2017 jan 27];2:82-5. available from: http://www.ojoonline.org/text.asp?2009/2/2/82/53038

dias r, dave n, garasia m. dexmedetomidine for anaesthetic management of phaeochromocytoma in a child with von hippel-lindau type 2 syndrome. indian j anaesth [serial online] 2015 [cited 2017 jan 27];59:319-21. available from: http://www.ijaweb.org/text.asp?2015/59/5/319/156891

http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc4041725&blobtype=pdf : minervini g, panizzoni e, giollo m, masiero a, ferrari c, et al. (2014) design and analysis of a petri net model of the von hippel-lindau (vhl) tumor suppressor interaction network. plos one 9(6): e96986. doi:10.1371/journal.pone.0096986

https://www.hindawi.com/journals/gri/2016/9872594/ gautham arunachal, divya pachat, c. george priya doss, sumita danda, rekha pai, and andrew ebenazer, “molecular characterization of a novel germline vhl mutation by extensive in silico analysis in an indian family with von hippel-lindau disease,” genetics research international, vol. 2016, article id 9872594, 9 pages, 2016. doi:10.1155/2016/9872594

http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc1479389&blobtype=pdf smith tg, brooks jt, balanos gm, lappin tr, layton dm, et al. (2006) mutation of von hippel– lindau tumour suppressor and human cardiopulmonary physiology. plos med 3(7): e290. doi: 10.1371/ journal.pmed.0030290

https://www.hindawi.com/journals/criu/2013/624096/ p. vaganovs, k. bokums, e. miklaševics, et al., “von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma,” case reports in urology, vol. 2013, article id 624096, 5 pages, 2013. doi:10.1155/2013/624096

http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc2660574&blobtype=pdf shen h-cj, adem a, ylaya k, wilson a, he m, et al. (2009) deciphering von hippel-lindau (vhl/vhl)-associated pancreatic manifestations by inactivating vhl in specific pancreatic cell populations. plos one 4(4): e4897. doi:10.1371/journal.pone.0004897

https://www.hindawi.com/journals/crim/2012/659104/ tarik esen, ömer acar, ahmet tefekli, ahmet musaoglu, izzet rozanes, and ali emre, “adrenal cortex-sparing surgery for bilateral multiple pheochromocytomas in a patient with von hippel-lindau disease,”case reports in medicine, vol. 2012, article id 659104, 5 pages, 2012. doi:10.1155/2012/659104

ba'arah bt. a case of von hippel-lindau disease with exudative maculopathy. oman j ophthalmol [serial online] 2009 [cited 2017 jan 27];2:82-5. available from: http://www.ojoonline.org/text.asp?2009/2/2/82/53038

http://europepmc.org/backend/ptpmcrender.fcgi?accid=pmc4260854&blobtype=pdf stanojevic b, saenko v, todorovic l, petrovic n, nikolic d, et al. (2014) low vhl mrna expression is associated with more aggressive tumor features of papillary thyroid carcinoma. plos one 9(12): e114511. doi:10.1371/journal.pone.0114511

 

Other helpful resources(support groups):

https://vhl.org/ vhl alliance

 

Related videos:

https://www.youtube.com/watch?v=aqwgojrzgei von hippel lindau disease

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https://www.youtube.com/watch?v=uciy8uixtoa an introduction to von hippel lindau disease

https://www.youtube.com/watch?v=dwjcoakoq0o von hippel lindau - rare genetic disease

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