X-linked recessive diseases

Question 1

What is the mnemonic for x-linked recessive diseases?

Answer 1

“Oblivious Female Will Give Her Boys x-Linked Disorder”

Question 2

What does the ‘O’ in “Oblivious Female Will Give Her Boys x-Linked Disorder” stand for?

Answer 2

Ocular albinism OR Ornithine trancarbamylase deficiency

this disease is exactly what it sounds like

Question 3

What does the ‘F’ in “Oblivious Female Will Give Her Boys x-Linked Disorder” stand for?

Answer 3

Fabry disease

peripheral neuropathy, angiokeratomas, CV/renal disease

Question 4

What does the ‘W’ in “Oblivious Female Will Give Her Boys x-Linked Disorder” stand for?

Answer 4

Wiskott-Aldrich syndrome

W-A-I-T-E-R…Immunodeficiency + Thrombocytopenia and purpura + Eczema on trunk + Recurrent pyogenic infections

Question 5

What does the ‘G’ in “Oblivious Female Will Give Her Boys x-Linked Disorder” stand for?

Answer 5

G6PD deficiency

Question 6

What does the ‘H’ in “Oblivious Female Will Give Her Boys x-Linked Disorder” stand for?

Answer 6

Hunter syndrome OR Hemophilia

Hunter…behavioral changes, no corneal clouding

Question 7

What does the ‘B’ in “Oblivious Female Will Give Her Boys x-Linked Disorder” stand for?

Answer 7

Bruton’s agammaglobulinemia OR Becker muscular dystrophy

Question 8

What does the ‘L’ in “Oblivious Female Will Give Her Boys x-Linked Disorder” stand for?

Answer 8

Lesch-Nyhan syndrome

HGPRT…deficient enzyme and mnemonic…Hyperuricemia + Gout + Pissed off (self-mutilation) + Retardation + dysTonia

Question 9

What does the ‘D’ in “Oblivious Female Will Give Her Boys x-Linked Disorder” stand for?

Answer 9

Duchenne Muscular Dystrophy