what are these diseases?

Question 1

Osler disease

Answer 1

autosomal dominant

Question 2

PCKD

Answer 2

autosomal dominant

Question 3

Neurofibromatosis

Answer 3

autosomal dominant

Question 4

Fascioscapulohumoral MD

Answer 4

autosomal dominant

Question 5

Huntington’s disease

Answer 5

autosomal dominant

Question 6

Achondroplasia

Answer 6

autosomal dominant

Question 7

Osteogenesis imperfecta

Answer 7

autosomal dominant

Question 8

Factor V leiden

Answer 8

autosomal recessive

Question 9

Cystic fibrosis

Answer 9

autosomal recessive

Question 10

Haemochromatosis

Answer 10

autosomal recessive

Question 11

Alpha 1 anti trypsin deficiency

Answer 11

autosomal recessive

Question 12

Thalassemia major

Answer 12

autosomal recessive

Question 13

Wilson disease

Answer 13

autosomal recessive

Question 14

Sickle cell disease

Answer 14

autosomal recessive

Question 15

Friedreich ataxia

Answer 15

autosomal recessive

Question 16

Familial mediterranean fever

Answer 16

autosomal recessive

Question 17

Gaucher disease

Answer 17

autosomal recessive

Question 18

Haemophilia A

Answer 18

X linked

Question 19

Duchenne MD

Answer 19

X linked

Question 20

G6PD deficiency

Answer 20

X linked

Question 21

Fabry disease

Answer 21

X linked

Question 22

Fragile X syndrome

Answer 22

X linked

Question 23

Trick to learn which are aut dom and which are aut recessive?

Answer 23

AR:”metabolic type things”

• CF, CAH, haemochromatosis, Wilson’s, thalassaemia
• an exception to this is the inherited ataxias which are also AR

AD: “structural”

• eg Huntington’s, achondroplasia, MEN
• exceptions are type II hyperlipidaemia and hypokalaemic periodic paralysis