Genetics: Autosomal Dominant Flashcards Preview

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Flashcards in Genetics: Autosomal Dominant Deck (14):
1

ADPKD

Bilateral kidney cysts
Mutation in PKD1 (ch 16)
"16 letters in polycystic kidney"

2

Familial adenomatous polyposis

Colon covered with adenomatous polyps
Prophylactic colectomy
Chromosome 5 ("five letters in polyp")

3

Familial hypercholesterolemia

Defective or absent LDL receptor --> elevated LDL
Severe atherosclerotic disease
Tendon xanthomas: Achilles tendon

4

Hereditary Hemorrhagic telangiectasia (Osler-Weber-Rendu)

Inherited disorder of blood vessels
Telangiectasia a, recurrent epistaxis, skin discoloration, AVM's, GI bleeding, hematuria

5

Hereditary spherocytosis

Autosomal dominant
Spheroid erythrocytes due to spectrin or ankyrin defect
Hemolytic anemia
Increased MCHC and RDW

6

Huntington disease

Depression, progressive dementia, choreiform movement
CAUDATE ATROPHY
Increased DOPAMINE, decreased GABA AND ACh
Chromosome 4
"Hunting 4 CAG"

7

Li Fraumeni Syndrome

Abnormalities in TP53
Multiple malignancies at an early age
SBLA cancer syndrome

8

Marfan Syndrome

Autosomal dominant
FBN1 gene mutation (ch 15) Defective fibrillin
Subluxation of lenses (upward and outward)
Pectus excavatum, medial necrosis of aorta.

9

MEN neoplasias

MEN1 gene
MEN2A/2B RET gene
Autosomal dominant

10

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"

11

Neurofibromatosis Type 2

Bilateral acoustic schwannomas, meningial as, ependymomas
Gene on chromosome 22 (type 2 = 22)

12

Tuberus Sclerosis

Neurocutaneous disorder with multi-system organ involvement
Benign hamartomas

13

Von Hippel Lindau

Deletion of VHL gene on chromosome 3
Numerous tumors (benign and malignant)
"3 words for chromosome 3"

14

Achondroplasia

Autosomal dominant - full penetrance
Mutation in FGFR3 inhibits Chondrocyte proliferation
Most common cause of dwarfism
"Dwarfs have dwarfs"