Talk:Von Hippel–Lindau disease

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Ideal sources for Wikipedia's health content are defined in the guideline Wikipedia:Identifying reliable sources (medicine) and are typically review articles. Here are links to possibly useful sources of information about Von Hippel–Lindau disease.

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Garbage

"This disease could be very poisonous. It gives you side effects like: smelly feet, bad breath, excessive hair growth."

McCoy's prone to it?

Stop trolling please. JFW | T@lk 21:53, 3 July 2007 (UTC)[reply]

Hearing loss

JAMA today re hearing loss in VHL. JFW | T@lk 21:53, 3 July 2007 (UTC)[reply]

Rage or Panic?

The article says the adrenaline releasing tumors can cause rage attacks, but then immediately says they're usually panic attacks. Which is it? —Preceding unsigned comment added by 68.230.161.164 (talk) 16:23, 25 October 2007 (UTC)[reply]

It can cause both panic and rage. Sometimes you can feel both at the same time —Preceding unsigned comment added by Eramsteven (talk • contribs) 21:45, 5 December 2007 (UTC)[reply]

VHL-gene is autosomal recessive?

The Von Hippel-Lindau gene is a tumor supressor, which means the non-functioning protein only appears if both alleles contain this mutation. If I am correct, this means that this mutation will be inherited in an autosomal recessive form, and not in an autosomal dominant form, as now is suggested in this article. Please, correct me if I'm wrong. But if I'm right, perhaps somebody could edit the 'autosomal dominant' image and it's underline, because I have no idea how to do that. —Preceding unsigned comment added by Tessal87 (talk • contribs) 23:15, 17 January 2008 (UTC)[reply]

This is generally correct, two mutations are generally needed to dysregulate a tsg, however, some only require one allele to be mutated, as is thought to be the case with VHL, because of the autosomal dominant expression. —Preceding unsigned comment added by 89.100.248.229 (talk) 16:32, 24 April 2009 (UTC)[reply]

Another way to think of it would be as a dominate negative mutation. Fuzbaby (talk) 22:21, 5 June 2009 (UTC)[reply]

The article also states that 90% of individuals show penetrance at age 65. Such incomplete penetrance is not consistant with autosomal dominant per se. Compare to a true autosomal dominant trait where essentially 100% of individuals with the gene show the phenotype. In such cases, the mutated protein is the 'gene product of choice' (if you will) for the cell. Here the OPPOSITE is the case - the non-functional gene is usually expressed when two nonfunctional genes are present or when dysregulated. Such mechanisms do not support the use of the term autosominal dominant. The photo and statement that it is inherited with autosomal dominant pattern should be removed and a more accurate/detailed explanation (ie. sometimes penetrates in single mutated allele but more often requires dysregulation) should be used. — Preceding unsigned comment added by 174.88.230.47 (talk) 15:16, 14 October 2013 (UTC)[reply]

Elliotts?

Under "People", it mentions that a number of McCoy desendants have VHL, and also mentions the Elliotts, but who are they? Jedikaiti (talk) 05:00, 24 April 2010 (UTC)[reply]

Capital v on article title

Should it be von like in the body? Uziel302 (talk) 16:57, 8 October 2019 (UTC)[reply]