Bio 2: Genetic Diseases

Front 1

PKU: Phenylketonuria

Back 1

Lack of hydroxilating of Phenylanine. Mental retardation, delayed development, small skull, musty odor.

Front 2

Duchenne Muscular Dystrophy

Back 2

Extremely weak muscles, lack of distrophin, wheel chair by 12, death by 20

Front 3

CEP, Gunther's Disease

Back 3

Red Skin Tint, Photosensitivity, Red/Brown Teeth, Redish-pink urine.

Front 4

Marfane Syndrome

Back 4

Tall, very skinny, much longer arms and legs, sight problems, long narrow face, heart issues. fiibrilin-1 mutation

Front 5

MSUD

Back 5

Thymine deficiency, delayed mental development, vomiting, refusal to eat, brown urine

Front 6

MERRF

Back 6

Mitochondrial disease, red pigments, dementia, hearing loss, sight loss, short stature

Front 7

Cystic Fibrosis

Back 7

Damage to lungs, digestive, and reproductive systems. Mucus buildup in lungs and other areas.

Front 8

Neurofibromatosis

Back 8

Tumors in central nervous system, abnormal growth on retina, pain in nerves.

Front 9

Fragile X Syndrome

Back 9

Intellectual Disabilities, Autisim like behaviors, narrow face, long ears, FMRI Gene, Small X section that may break off.

Front 10

Hemochromatosis

Back 10

Disrupts iron regulation, joint pain, bronze skin, diabetes, 40-50 years old.

Front 11

Xeoderma Pigmentosom

Back 11

Dry, pigmented skin, photosensitivy, skin cancer, patches all over skin, warts.

Front 12

Familial Hypercholesterolemia

Back 12

more cholestoral, in ability to remove excess, few LDL. Chest pain, warts on eyes and feet.

Front 13

Epidermolysis Bullosa

Back 13

Fragile blistering skin caused by minor rubbing, blisters, mishapen nails, rougher skin, can lead to blistering of intestines.

Front 14

Ostogenesis Imperfecta

Back 14

Imperfect bone formation, fragile bones, brittle teeth, deafness, bowed legs.

Front 15

Hotchinson-Gilford Progeria

Back 15

Hair loss, scalp veins, concave nose, thin lips, joint dislocation, death around mid teens, high cholestoral

Front 16

Hutington Disease

Back 16

30-50 years, swallowing issues, uncontrolled movements

Front 17

Hemophilia A

Back 17

longer bleeding, harder for blood clots to form, bruising, joint bleeds, blood in urine, bleeding in skull.

Front 18

Tay-Sachs Disease

Back 18

destroys nerve cells in spinal cord and brain, Jewish culture, infants can't crawl or sit, early seizures, blind and deafness

Front 19

Lesch-Nyhan Syndrome

Back 19

affects breaking down purines, swelling, kidney stones, self-harm behavior patterns, kidney failures.