Inherited Disorders Bank

Question 1

Inheritence - Homocystinuria

Answer 1

Autosomal Recessive

Question 2

Albinism

Answer 2

Autosomal Recessive

Question 3

Ataxic telangiectasia

Answer 3

Autosomal Recessive

Question 4

Congenital adrenal hyperplasia

Answer 4

Autosomal Recessive

Question 5

Cystic fibrosis

Answer 5

Autosomal Recessive

Question 6

Cytsinuria

Answer 6

Autosomal Recessive

Question 7

Familial Mediterranean Fever

Answer 7

Autosomal Recessive

Question 8

Fanconi anaemia

Answer 8

Autosomal Recessive

Question 9

Friedreich’s ataxia

Answer 9

Autosomal Recessive

Question 10

Glycogen storage disease

Answer 10

Autosomal Recessive

Question 11

Haemochromatosis

Answer 11

Autosomal Recessive

Question 12

Homocystinuria

Answer 12

Autosomal Recessive

Question 13

Lipid storage disease: Tay’Sach’s, Gaucher, Niemann-Pick

Answer 13

Autosomal Recessive

Question 14

Mucopolysaccharidoses: Hurler’s

Answer 14

Autosomal Recessive

Question 15

PKU

Answer 15

Autosomal Recessive

Question 16

Sickle cell anaemia

Answer 16

Autosomal Recessive

Question 17

Thalassaemias

Answer 17

Autosomal Recessive

Question 18

Wilson’s disease

Answer 18

Autosomal Recessive

Question 19

Achondroplasia

Answer 19

Autosomal Dominant

Question 20

Acute intermittent porphyria

Answer 20

Autosomal Dominant

Question 21

Adult polycystic disease

Answer 21

Autosomal Dominant

Question 22

Antithrombin III deficiency

Answer 22

Autosomal Dominant

Question 23

Ehlers-Danlos syndrome

Answer 23

Autosomal Dominant

Question 24

Familial adenomatous polyposis

Answer 24

Autosomal Dominant

Question 25

Hereditary haemorrhagic telangiectasia

Answer 25

Autosomal Dominant

Question 26

Hereditary spherocytosis

Answer 26

Autosomal Dominant

Question 27

Hereditary non-polyposis colorectal carcinoma

Answer 27

Autosomal Dominant

Question 28

Huntington’s

Answer 28

Autosomal Dominant

Question 29

Hyperlipidaemia type II

Answer 29

Autosomal Dominant

Question 30

Hypokalaemic periodic paralysis

Answer 30

Autosomal Dominant

Question 31

Malignant hyperthermia

Answer 31

Autosomal Dominant

Question 32

Marfan’s

Answer 32

Autosomal Dominant

Question 33

Myotonic dystrophy

Answer 33

Autosomal Dominant

Question 34

Neurofibromatosis

Answer 34

Autosomal Dominant

Question 35

Noonan syndrome

Answer 35

Autosomal Dominant

Question 36

Osteogenesis imperfecta

Answer 36

Autosomal Dominant

Question 37

Peutz-Jegher’s

Answer 37

Autosomal Dominant

Question 38

Retinoblastoma

Answer 38

Autosomal Dominant

Question 39

Romano-Ward syndrome

Answer 39

Autosomal Dominant

Question 40

Tuberous sclerosis

Answer 40

Autosomal Dominant

Question 41

Von Hippel-Lindau

Answer 41

Autosomal Dominant

Question 42

Von Willebrand’s disease

Answer 42

Autosomal Dominant*

Question 43

Gilbert’s syndrome

Answer 43

Autosomal Recessive*

Question 44

Trinucleotide repeat disorders

Answer 44

• Fragile X
• Huntington’s
• myotonic dystrophy
• Friedreich’s ataxia
• spinocerebellar ataxia
• spinobulbar muscular atrophy
• dentatorubral pallidoluysian atrophy

Question 45

Lesch-Nyhan syndrome

Answer 45

Inherited enzyme deficiency.
“juvenile gout”,
self-mutilation behaviour