Genetics: Autosomal Dominant Flashcards
ADPKD
Bilateral kidney cysts
Mutation in PKD1 (ch 16)
“16 letters in polycystic kidney”
Familial adenomatous polyposis
Colon covered with adenomatous polyps
Prophylactic colectomy
Chromosome 5 (“five letters in polyp”)
Familial hypercholesterolemia
Defective or absent LDL receptor –> elevated LDL
Severe atherosclerotic disease
Tendon xanthomas: Achilles tendon
Hereditary Hemorrhagic telangiectasia (Osler-Weber-Rendu)
Inherited disorder of blood vessels
Telangiectasia a, recurrent epistaxis, skin discoloration, AVM’s, GI bleeding, hematuria
Hereditary spherocytosis
Autosomal dominant
Spheroid erythrocytes due to spectrin or ankyrin defect
Hemolytic anemia
Increased MCHC and RDW
Huntington disease
Depression, progressive dementia, choreiform movement
CAUDATE ATROPHY
Increased DOPAMINE, decreased GABA AND ACh
Chromosome 4
“Hunting 4 CAG”
Li Fraumeni Syndrome
Abnormalities in TP53
Multiple malignancies at an early age
SBLA cancer syndrome
Marfan Syndrome
Autosomal dominant
FBN1 gene mutation (ch 15) Defective fibrillin
Subluxation of lenses (upward and outward)
Pectus excavatum, medial necrosis of aorta.
MEN neoplasias
MEN1 gene
MEN2A/2B RET gene
Autosomal dominant
Neurofibromatosis type 1
Cafe au lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, Lisch nodules
Mutations in NF1 gene on chromosome 17
“17 letters in Von Reccklinghausen”
Neurofibromatosis Type 2
Bilateral acoustic schwannomas, meningial as, ependymomas
Gene on chromosome 22 (type 2 = 22)
Tuberus Sclerosis
Neurocutaneous disorder with multi-system organ involvement
Benign hamartomas
Von Hippel Lindau
Deletion of VHL gene on chromosome 3
Numerous tumors (benign and malignant)
“3 words for chromosome 3”
Achondroplasia
Autosomal dominant - full penetrance
Mutation in FGFR3 inhibits Chondrocyte proliferation
Most common cause of dwarfism
“Dwarfs have dwarfs”
