Disease Genes, chromosomes, inheritance patterns

Question 1

Marfan

Answer 1

AD

general rule: AD=adult onset & structural problem

Question 1

Albinism

Answer 1

AR

general rule: AR=childhood onset & enzyme problem

Question 2

ARPKD

Answer 2

AR

general rule: AR=childhood onset & enzyme problem

Question 3

von Hippel-Lindau

Answer 3

AD

Question 3

Hemophilia A and B (FVIII and FIX def)

Answer 3

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

Question 3

Osteogenesis Imperfecta

Answer 3

AD

(may resemble child abuse from a Dominant parent)

Question 4

sickle cell

Answer 4

AR

general rule: AR=childhood onset & enzyme problem

Question 5

Hereditary Spherocytosis

Answer 5

AD

tx = splenectomy

general rule: AD=adult onset & structural problem

Question 5

Kartagener’s

Answer 5

AR

Question 6

Wilson

Answer 6

AR

general rule: AR=childhood onset & enzyme problem

Question 6

Duchenne (and Becker)

Answer 6

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

Question 7

Bruton agammaglobulinemia (hyper-IgM)

Answer 7

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

Question 7

Myotonic Type 1 muscular dystrophy

Answer 7

AD

(unlike Duchenne/Becker musc dystrophies: XLR)

Most common adult-onset muscular dystrophy. CTG repeat.

Question 8

glycogen storage diseases

Answer 8

AR

general rule: AR=childhood onset & enzyme problem

Question 9

thalassemias

Answer 9

AR

Question 10

Leber Hereditary Optic Neuropathy

Answer 10

mitochondrial

Question 12

Tuberous Sclerosis

Answer 12

AD

general rule: AD=adult onset & structural problem

Question 13

sphingolipidoses (except Fabry)

Answer 13

AR

Question 14

Lesch-Nyhan

Answer 14

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

Question 16

Multiple Endocrine Neoplasia (MEN)

Answer 16

AD

general rule: AD=adult onset & structural problem

Question 18

Fabry

Answer 18

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

Question 20

Hereditary hemorrhagic telangiectasia

Answer 20

AD

general rule: AD=adult onset & structural problem

Question 21

Familial adenomatous polyposis

Answer 21

AD

mutation on chromo 5 “POLYP”

uses wnt pathway

general rule: AD=adult onset & structural problem

Question 22

hemochromatosis

Answer 22

AR

general rule: AR=childhood onset & enzyme problem

Question 24

Huntington

Answer 24

AD

general rule: AD=adult onset & structural problem

Question 25

Hunter Syndrome

Answer 25

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

Question 26

Ornithine Transcarbamylase def

Answer 26

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

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

Question 27

phenylketonuria

Answer 27

AR

Question 28

Familial Hypercholesteremia

Answer 28

AD

general rule: AD=adult onset & structural problem

Question 29

ADPKD

Answer 29

AD (Autosomal Dom Polycystic Kidney Disease!)

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

general rule: AD=adult onset & structural problem

Question 29

MERFF (ragged red fibers)

Answer 29

mitochondrial

Question 31

Ocular albinism

Answer 31

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

Question 32

Cystic Fibrosis

Answer 32

AR

Question 34

Neurofibromatosis Types I and II

Answer 34

AD

general rule: AD=adult onset & structural problem

Question 35

mucopolysaccharidoses (except Hunter)

Answer 35

AR

general rule: AR=childhood onset & enzyme problem

Question 36

Wiscott Aldrich

Answer 36

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

Question 37

G6PD deficiency

Answer 37

XLR

“Be Wise, Fool’s GOLD Heeds Silly HOpe”

Question 38

Achondroplasia

Answer 38

AD/sporadic, related to advanced paternal age

(remember it is a activating mutation of FGFR3)