Disease Genes, chromosomes, inheritance patterns Flashcards Preview

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Flashcards in Disease Genes, chromosomes, inheritance patterns Deck (38)
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1

Marfan

AD

general rule: AD=adult onset & structural problem

1

Albinism

AR

general rule: AR=childhood onset & enzyme problem

2

ARPKD

AR

general rule: AR=childhood onset & enzyme problem

3

von Hippel-Lindau

AD

3

Hemophilia A and B (FVIII and FIX def)

XLR

"Be Wise, Fool's GOLD Heeds Silly HOpe"

3

Osteogenesis Imperfecta

AD

(may resemble child abuse from a Dominant parent)

4

sickle cell

AR

general rule: AR=childhood onset & enzyme problem

5

Hereditary Spherocytosis

AD

tx = splenectomy

general rule: AD=adult onset & structural problem

5

Kartagener's

AR

6

Wilson

AR

general rule: AR=childhood onset & enzyme problem

6

Duchenne (and Becker)

XLR

"Be Wise, Fool's GOLD Heeds Silly HOpe"

7

Bruton agammaglobulinemia (hyper-IgM)

XLR

"Be Wise, Fool's GOLD Heeds Silly HOpe"

7

Myotonic Type 1 muscular dystrophy

AD

(unlike Duchenne/Becker musc dystrophies: XLR)

Most common adult-onset muscular dystrophy. CTG repeat.

8

glycogen storage diseases

AR

general rule: AR=childhood onset & enzyme problem

9

thalassemias

AR

10

Leber Hereditary Optic Neuropathy

mitochondrial

12

Tuberous Sclerosis

AD

general rule: AD=adult onset & structural problem

13

sphingolipidoses (except Fabry)

AR

14

Lesch-Nyhan

XLR

"Be Wise, Fool's GOLD Heeds Silly HOpe"

16

Multiple Endocrine Neoplasia (MEN)

AD

general rule: AD=adult onset & structural problem

18

Fabry

XLR

"Be Wise, Fool's GOLD Heeds Silly HOpe"

20

Hereditary hemorrhagic telangiectasia

AD

general rule: AD=adult onset & structural problem

21

Familial adenomatous polyposis

AD

mutation on chromo 5 "POLYP"

uses wnt pathway

general rule: AD=adult onset & structural problem

22

hemochromatosis

AR

general rule: AR=childhood onset & enzyme problem

24

Huntington

AD

general rule: AD=adult onset & structural problem

25

Hunter Syndrome

XLR

"Be Wise, Fool's GOLD Heeds Silly HOpe"

26

Ornithine Transcarbamylase def

XLR

"Be Wise, Fool's GOLD Heeds Silly HOpe"

(most common Urea cycle deficiency; causes hyper-ammonemia and incr Carbamoyl Phosphate)

27

phenylketonuria

AR

28

Familial Hypercholesteremia

AD

general rule: AD=adult onset & structural problem

29

ADPKD

AD (Autosomal Dom Polycystic Kidney Disease!)

85% of mut on chromosome 16: 16 letters in "polycystic kidney"

general rule: AD=adult onset & structural problem