Disease by Inheritance Patterns

Question 1

Autosomal dominant diseases

Answer 1

-Achondroplasia
-Familial adenomatous polyposis
-Familial hypercholesterolemia
-Hereditary hemorrhagic
telangiectasia
-Hereditary spherocytosis
-Huntington disease
-Li-Fraumeni syndrome
-Marfan syndrome
-Multiple endocrine neoplasias (MEN)
-Neurofibromatosis type 1 (von
Recklinghausen disease)
-Neurofibromatosis type 2
-Tuberous sclerosis
-von Hippel-Lindau disease

Question 2

Autosomal recessive diseases

Answer 2

• Albinism
• autosomal recessive polycystic kidney disease (ARPKD)
• cystic fibrosis
• glycogenstorage diseases
• hemochromatosis
• Kartagener syndrome
• mucopolysaccharidoses (except Hunter syndrome)
• phenylketonuria
• sickle cell anemia
• sphingolipidoses (except Fabry disease)
• thalassemias
• Wilson disease

Question 3

X-linked recessive

disorders

Answer 3

• Ornithine transcarbamylase deficiency
• Fabry disease
• Wiskott-Aldrich syndrome
• Ocular albinism
• G6PD deficiency
• Hunter syndrome
• Bruton agammaglobulinemia
• Hemophilia A and B
• Lesch-Nyhan syndrome
• Duchenne(and Becker) muscular dystrophy