Genetic Disorders

Schizophrenia: multifactorial; abnormal behavior of hallucinations/paranoia; take antipsychotic medication 

Acute Lymphocyte Leukemia (ALL): multifactorial (polygenetic but usually autosomal dominant); repeated infections and nosebleeds 

Alzeheimer’s Disease: multifactorial (autosomal dominant); progressive decline in memory

Kearns-Sayre Syndrome: mitochondrial (or mutations); defects in the eye, heart, brain

Leber Hereditary Optic Neuropathy: mitochondrial; progressive vision loss

Marfan Syndrome: autosomal dominant single gene mutation on chromosome 15; connective tissue disease that causes heart murmurs, tallness, long fingers and toes

Huntington’s Disease: autosomal dominant single gene mutation of chromosome 4; progressive damage of brain cells

Polycystic Kidney Disease (PKD): autosomal dominant/recessive single gene mutation; fluid filled cysts in the kidneys, high bp; often ends with kidney failure & need for kidney transplant

Cystic fibrosis: autosomal recessive single gene recessive disease; excessive mucus buildup in the lungs due to defective CFTR gene (prevents passage of ions)

Phenylketonocturia (PKU): congenital autosomal recessive; cannot process phenylalanine (amino acid), restricted diet

Fragile X Syndrome: multiple repeats of CGG; sex linked or X; mental difficulties 

Duchenne Muscular Dystrophy: sex linked (X chromosome) recessive single gene disorder; progressive muscular weakness

Hemophilia: Sex (X) linked; blood not clotting properly; inject clotting factor in blood transfusions or take meds

Trisomy 18/Edward’s Syndrome: 3 chromosome 18; caused by nondisjunction; influenced by maternal age; most die before age 1

Down Syndrome: trisomy 21; causes developmental delays and cognitive impairment

Prader-Willi Syndrome: random deletion of chromosome 15; difficulty feeding or hyperphagia 

Li Fraumeni Syndrome:hereditary germline dominant mutation that increases one’s change of developing cancer