Biochem - Genetics (Autosomal-dominant diseases) Flashcards Preview

FA - Biochemistry > Biochem - Genetics (Autosomal-dominant diseases) > Flashcards

Flashcards in Biochem - Genetics (Autosomal-dominant diseases) Deck (33):
1

What was the former name of Autosomal dominant polycystic kidney disease (ADPKD)?

Formerly known as adult polycystic kidney disease

2

What is the main presentation of ADPKD, and what causes this?

Always bilateral, massive enlargement of kidneys due to multiple large cysts

3

What mutations cause ADPK? On what chromosomes are they? What percentage of cases are attributed to each of these?

85% of cases are due to mutation in PKD1 (chromosome 16; Think: "16 letters in polycystic kidney"); Remainder due to mutation in PKD2 (chromosome 4)

4

What defines familial adenomatous polyposis, and when does it occur?

Colon becomes covered with adenomatous polyps after puberty

5

To what does familial adenomatous polyposis progress? How is this progression prevented?

Progresses to colon cancer unless colon is resected

6

What mutation and chromosome are associated with familial adenomatous polyposis?

Mutations on chromosome 5 (APC gene); Think: "5 letters in 'polyp'"

7

What is the defect in familial hypercholesterolemia, and what effect does it have?

Elevated LDL due to defective or absent LDL receptor

8

What are the 2 main clinical findings caused by familial hypercholesterolemia?

Leads to severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon)

9

What is Hereditary hemorrhagic telangiectasia? What is another name for it?

Inherited disorder of blood vessels; Also known as Osler-Weber-Rendu syndrome

10

What are 6 clinical findings associated with hereditary hemorrhagic telangiectasia?

Findings: (1) telangiectasia (2) recurrent epistaxis (3) skin discolorations (4) atriovenous malformations (AVMs) (5) GI bleeding (6) hematuria

11

What is the defect in hereditary spherocytosis, and what effect does it have?

Spheroid erythrocytes due to spectrin or ankyrin defect

12

What are 2 clinical/lab findings associated with hereditary spherocytosis?

Hemolytic anemia; high MCHC

13

What is the treatment for hereditary spherocytosis?

Treatment: splenectomy

14

What are 5 clinical/lab findings associated with Huntington disease?

Findings: (1) depression, (2) progressive dementia, (3) choreiform movements, (4) caudate atrophy, and (5) low levels of GABA and ACh in the brain

15

On what chromosome is the Huntington gene?

Gene on chromosome 4; Think: "Hunting 4 food"

16

What kind of repeats are associated with Huntington disease? What effect do increasing number of repeats have?

Trinucleotide repeat disorder: (CAG)n. Increased repeats --> Decreased age of onset

17

What is the defect in Marfan syndrome, and what effects does it have?

Fibrillin-1 gene mutation --> connective tissue disorder affecting skeleton, heart, and eyes

18

What are 4 physical findings associated with Marfan syndrome?

Findings: (1) tall with long extremities (2) pectus excavatum (3) hypermobile joints (4) Long, tapering fingers and toes (arachnodactyly)

19

What aortic finding is associated with Marfan syndrome, and what causes it?

Cystic medial necrosis of aorta --> aortic incompetence and dissecting aortic aneurysms

20

What cardiac finding is associated with Marfan syndrome?

Floppy mitral valve

21

What ocular finding is associated with Marfan syndrome?

Subluxation of lenses, typically upward and temporally

22

What is MEN, and what are the types of MEN? In general, what characterizes them?

Multiple endocrine neoplasias (MEN); Several distinct syndromes (1, 2A, 2B) characterized by familial tumors of endocrine glands, including those of the pancreas, parathyroid, pituitary, thyroid, and adrenal medulla.

23

Which what gene is MEN 2A associated? What other type of MEN is also associated with this gene?

MEN 2A and 2B are associated with ret gene

24

What is another name for Neurofibromatosis type 1?

Neurofibromatosis type 1 (von Recklinghausen disease)

25

What is Neurofibromatosis type 1, and what 2 main physical findings characterize it?

Neurocutaneous disorder characterized by cafe-au-lait spots and cutaneous neurofibromas

26

What is the mode of inheritance, penetrance, and expression of neurofibromatosis type 1?

Autosomal dominant, 100% penetrance, variable expression

27

What gene mutations cause Neurofibromatosis type 1, and on what chromosome is the gene found?

Caused by mutations in the NF1 gene on chromosome 17; Think: "17 letters in 'von Recklinghausen'"

28

What are 4 clinical findings associated with Neurofibromatosis type 2?

Findings: (1) bilateral acoustic schwannomas (2) juvenile cataracts (3) meningiomas (4) ependymomas

29

What gene mutations cause Neurofibromatosis type 2, and on what chromosome is the gene found?

NF2 gene on chromosome 22; Think: "type 2 = 22"

30

What is Tuberous sclerosis, and what finding characterizes it?

Neurocutaneous disorder with multi-organ system involvement, characterized by numerous benign hamartomas

31

What is the penetrance and expression of Tuberous sclerosis?

Incomplete penetrance, variable expression

32

What characterizes von Hippel-Lindau disease?

Disorder characterized by development of numerous tumors, both benign and malignant

33

With what mutation is von Hippel-Lindau disease associated, and on what chromosome is this gene found?

Associated with deletion of VHL gene (tumor suppressor) on chromosome 3 (3p); Think: "Von Hippel-Lindau = 3 words for chromosome 3"

Decks in FA - Biochemistry Class (31):