Genetics Flashcards
Huntington Disease
Nervous
Autosomal Dominant
Neurofibramatosis
Nervous
Autosomal Dominant
Myotonic Dystrophy
Nervous
Autosomal Dominant
Tuberous Sclerosis
Nervous
Autosomal Dominant
Polycystic Kidney Disease
Urinary
Autosomal Dominant
Associated with aneurysm in Circle of Willis
Familial Polyposis Coli
GI
Autosomal Dominant
Hereditary Spherocytosis
Hematopoietic
Autosomal Dominant
von Willebrand disease
Hematopoietic
Autosomal Dominant
Marfan Syndrome
Skeletal
Autosomal Dominant
Ehlers-Danlos syndrome
Skeletal Autosomal Dominant (Some variants)
Osteogenesis Imperfecta
Skeletal
Autosomal Dominant
Achondroplasia
Skeletal
Autosomal Dominant
Familial Hypercholesteremia
Metabolic
Autosomal Dominant
Acute Intermittent Porphyria
Metabolic
Autosomal Dominant
Proteins normally affected by Autosomal Dominent disorders
Loss of function of regulatory proteins with complex metabolic consequences
Infant with hepatosplenomegaly, failure to thrive, vomiting, fever, lymphadenopathy and psychomotor deterioration. Accumulation of sphingomyelin
Niemann Pick Disease
Glucocerebroside accumulates in mononuclear phagocytes througout body with spleen and bone involvement predominating (No CNS involvement)
Gaucher Disease (Type 1)
Relentless motor and mental deterioration leading to flaccidity, blindness, dementia, and death by age 2-3
Tay-Sachs Disease
Common in Ashkenazi Jews
Lysosomal Storage Disorder
Hepatomegaly, renomegaly, hypoglycemia and cardiac disease
Glycogen Storage Disease
Cystic Fibrosis
Metabolic
Autosomal Recessive
Phenyketonuria
Metabolic
Autosomal Recessive
Galactosemia
Metabolic Autosomal Recessive
Homocystinuria
Metabolic
Autosomal Recessive
Lysosomal Storage Diseases
Metabolic
Autosomal Recessive
A1-antitrypsin deficiency
Metabolic
Autosomal Recessive
Wilson Disease
Metabolic
Autosomal Recessive
Hemochromatosis
Metabolic
Autosomal Recessive
Glycogen Storage Diseases
Metabolic
Autosomal Recessive
Sickle Cell Anemia and Thalassemias
Hematopoietic
Autosomal Recessive
Congenital Adrenal Hyperplasia
Endocrine
Autosomal Recessive
Ehlers-Danlos Syndrome (Some) and Alkaptonuria
Skeletal
Autosomal Recessive
Spinal Muscular Atrophy
Nervous
Autosomal Recessive
