autosomal_dominant_conditions_flashcards

Question 1

What type of conditions are often thought to be autosomal recessive?

Answer 1

‘Metabolic’ conditions.

Question 2

What type of conditions are often thought to be autosomal dominant?

Answer 2

‘Structural’ conditions.

Question 3

What are some exceptions to autosomal recessive conditions being ‘metabolic’?

Answer 3

Some ‘metabolic’ conditions like Hunter’s and G6PD are X-linked recessive, while others like hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant.

Question 4

What are some exceptions to autosomal dominant conditions being ‘structural’?

Answer 4

Some ‘structural’ conditions like ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive.

Question 5

What are some autosomal dominant conditions?

Answer 5

Achondroplasia, Acute intermittent porphyria, Adult polycystic disease, Antithrombin III deficiency, Ehlers-Danlos syndrome, Familial adenomatous polyposis, Hereditary haemorrhagic telangiectasia, Hereditary spherocytosis, Hereditary non-polyposis colorectal carcinoma, Huntington’s disease, Hyperlipidaemia type II, Hypokalaemic periodic paralysis, Malignant hyperthermia, Marfan’s syndrome, Myotonic dystrophy, Neurofibromatosis, Noonan syndrome, Osteogenesis imperfecta, Peutz-Jeghers syndrome, Retinoblastoma, Romano-Ward syndrome, Tuberous sclerosis, Von Hippel-Lindau syndrome, Von Willebrand’s disease.

Question 6

What is notable about type 3 von Willebrand’s disease in terms of inheritance?

Answer 6

It is inherited as an autosomal recessive trait, while around 80% of patients have type 1 disease.