DISEASES TO REMEMBER Flashcards
Huntington’s
Type: Autosomal dominant
Description: Degenerative brain disorder. Onset age 30-50.
Familial hypercholesterolemia
Type: Autosomal dominant
Description
Multiple endocrine neoplasia
Type: Autosomal dominant
Description: Featuring tumors of endocrine glands, each with its own characteristic pattern
Tay sachs
Type: Autosomal recessive
Description: Lack of enzyme hexosaminidase, which breaks down fatty acids in nerve tissues
Cystic fibrosis
Type: Autosomal recessive
Description: Defect in the transport of calcium ions across epithelial
Sickle cell disease
Type: Autosomal recessive
Description:
Vitamin 𝐷 resistance
Type: linked recessive X
Description: receptors of this vitamin are resistant
Hemophilia
Type: linked recessive X
Description: lack of clotting factor 8 (hemophilia 𝐴), or clotting factor 9 (hemophilia 𝐵)
Color blindness
Type: linked recessive X
Description:
Duchene
Type: linked recessive X
Description:
Rhett
Type: linked dominant X
Description: Symptoms include problems with language, coordination, and repetitive movements. Often there is slower growth, problems walking, and a smaller head size.
Rickets
Type: linked dominant X
Description: deficiency of the receptor of vitamin 𝐷
Down syndrome
Type: Trisomy 21
Description: These patients usually suffer mild to moderate mental retardation. They usually have a characteristic facial appearance, and an enhanced susceptibility to heart disease and Alzheimer’s
Edwards syndrom
Type: Trisomy 18
Description:
Patau syndrome
Type: Trisomy 13
Description:
