Genetics

Question 1

Huntington Disease

Answer 1

Nervous

Autosomal Dominant

Question 2

Neurofibramatosis

Answer 2

Nervous

Autosomal Dominant

Question 3

Myotonic Dystrophy

Answer 3

Nervous

Autosomal Dominant

Question 4

Tuberous Sclerosis

Answer 4

Nervous

Autosomal Dominant

Question 5

Polycystic Kidney Disease

Answer 5

Urinary
Autosomal Dominant
Associated with aneurysm in Circle of Willis

Question 6

Familial Polyposis Coli

Answer 6

GI

Autosomal Dominant

Question 7

Hereditary Spherocytosis

Answer 7

Hematopoietic

Autosomal Dominant

Question 8

von Willebrand disease

Answer 8

Hematopoietic

Autosomal Dominant

Question 9

Marfan Syndrome

Answer 9

Skeletal

Autosomal Dominant

Question 10

Ehlers-Danlos syndrome

Answer 10

Skeletal
Autosomal Dominant (Some variants)

Question 11

Osteogenesis Imperfecta

Answer 11

Skeletal

Autosomal Dominant

Question 12

Achondroplasia

Answer 12

Skeletal

Autosomal Dominant

Question 13

Familial Hypercholesteremia

Answer 13

Metabolic

Autosomal Dominant

Question 14

Acute Intermittent Porphyria

Answer 14

Metabolic

Autosomal Dominant

Question 15

Proteins normally affected by Autosomal Dominent disorders

Answer 15

Loss of function of regulatory proteins with complex metabolic consequences

Question 16

Infant with hepatosplenomegaly, failure to thrive, vomiting, fever, lymphadenopathy and psychomotor deterioration. Accumulation of sphingomyelin

Answer 16

Niemann Pick Disease

Question 17

Glucocerebroside accumulates in mononuclear phagocytes througout body with spleen and bone involvement predominating (No CNS involvement)

Answer 17

Gaucher Disease (Type 1)

Question 18

Relentless motor and mental deterioration leading to flaccidity, blindness, dementia, and death by age 2-3

Answer 18

Tay-Sachs Disease
Common in Ashkenazi Jews
Lysosomal Storage Disorder

Question 19

Hepatomegaly, renomegaly, hypoglycemia and cardiac disease

Answer 19

Glycogen Storage Disease

Question 20

Cystic Fibrosis

Answer 20

Metabolic

Autosomal Recessive

Question 21

Phenyketonuria

Answer 21

Metabolic

Autosomal Recessive

Question 22

Galactosemia

Answer 22

Metabolic Autosomal Recessive

Question 23

Homocystinuria

Answer 23

Metabolic

Autosomal Recessive

Question 24

Lysosomal Storage Diseases

Answer 24

Metabolic

Autosomal Recessive

Question 25

A1-antitrypsin deficiency

Answer 25

Metabolic | Autosomal Recessive

Question 26

Wilson Disease

Answer 26

Metabolic | Autosomal Recessive

Question 27

Hemochromatosis

Answer 27

Metabolic | Autosomal Recessive

Question 28

Glycogen Storage Diseases

Answer 28

Metabolic | Autosomal Recessive

Question 29

Sickle Cell Anemia and Thalassemias

Answer 29

Hematopoietic | Autosomal Recessive

Question 30

Congenital Adrenal Hyperplasia

Answer 30

Endocrine | Autosomal Recessive

Question 31

Ehlers-Danlos Syndrome (Some) and Alkaptonuria

Answer 31

Skeletal | Autosomal Recessive

Question 32

Spinal Muscular Atrophy

Answer 32

Nervous | Autosomal Recessive