veranellasel's version from 2015-06-23 23:19

Section 1

Question Answer
full penetrance and variable expressivityNF1, NF2, Tuberous sclerosis
VHL genetics:Chromosome 3, auto dominant
mutated gene for VHLVHL mutated suppressor gene on Chr 3. creates constitutive HIF for angiogenic growth factors
pheochromocytomas, retina brain stem and crebellum tumorsvon hippel lindau disease
cavernous hemangiomas on skin, mucosa, organs von hippel lindau disease
bilateral renal cell carcinomavon hippel lindau disease
hamartomas in CNS and skintuberous sclerosis
angiofibromas and mitral regurgitationtuberous sclerosis
ash leaf spots and cardiac rhabdomyomatuberous sclerosis
shagreen patches and seizurestuberous sclerosis
renal aniomyolipomatuberous sclerosis
skin nad mucosal telangiectasiasosler weber Rendu syndrome
severe nosebleedsosler weber rendu syndrome
osler weber rendu syndrome geneticsautosomal dominant
telangiectasias on brain, liver, spleenOsler Weber Rendu Syndrome
does osler weber rendu have full penetrance and variable expressivity?yes to variable expressivity, and high penetrance but not 100%
telangiectasia definitiondilation of small vessels in a cluster and they appear swollen

Section 2

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