Upgrade to remove ads
Only $35.99/year

Genetic & Chromosomal Disorders

Terms in this set (13)

Familial Hypercholesterolemia
Autosomal dominant disorder that is caused by defective or absent receptors for LDLs on cell surfaces, that is marked by an increase in blood plasma LDLs and by an accumulation of LDLs in the body resulting in an increased risk of heart attack and coronary heart disease, and that is inherited as an autosomal dominant trait.
Familial Adenomatous Polyposis (FAP)
5q21 tumor suppressor gene (APC) An autosomal dominant trait resulting in the development of polyps and benign growths in the colon. Polyps often develop into malignant growths and cause cancer of the colon and/or rectum.
Marfan Syndrome
fibrillin 1 gene autosomal dominant; pleiotropic; tall, weak heart
Neuofibromatosis
NF1- Mutation of tumor suppressor gene/ NF2- gene protein product is a tumor suppressor known as merlin.
Ehlers-Danlos syndrome
A group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. People who have this syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn't strong enough to hold them.
cystic fibrosis
A genetic disorder that is present at birth and affects both the respiratory and digestive systems.
Tay-Sachs disease
lysosomal storage disease- mutation on chromosome 15
sphingomyelinase deficiency results in macrophages that have soap-bubble appearance. 11p15.4
Niemann-Pick disease
Gaucher disease
glucocerebrosidase (β-glucosidase) def. → ↑ glucocerebroside
aseptic necrosis of femur, Gaucher cells (lipid-laden Mφ's, crumpled tissue paper), hepatosplenomegaly
Wilson disease (hepatolenticular degeneration)
AUTOSOMAL RECESSIVE inheritance [chromosome =13]
Inadequate hepatic copper excretion and failure of copper to enter into circulation as ceruloplasmin
COPPER ACCUMULATION in:
1. Liver
2. Brain
3. Cornea
4. Kidneys [Fanconi syndrome]
5. Joints
Copper is normally excreted into bile by hepatocyte copper transporting ATPase [ATP7B]

Clinical Manifestations:
1. ↓ Ceruloplasmin, Cirrhosis, Corneal deposits [Kayser-Fleischer rings], Copper accumulation, Carcinoma [HCC]
2. Hemolytic anemia
3. Basal ganglia degeneration [Parkinsonian symptoms]
4. Asterixis
5. Dementia, Dyskinesia, Dysarthria

Copper is Hella BAD

Treatment: Chelation w/ penicillamine or trientine, oral zinc
G6PD deficiency
The most common enzyme disorder in humans. MALARIA - low amount of enzyme that important in RBC metabolism.
Klinefelter Syndrome (XXY)
XXY - Most common in males -underdeveloped sex organs, breast development, large hands, and long arms and legs
Turner Syndrome
A chromosomal disorder in females in which either an X chromosome is missing, making the person XO instead of XX, or part of one X chromosome is deleted.
Sets found in the same folder