modes of inheritance - diseases Flashcards
hypophosphatemic ricketts
x-linked dominant
AD, bilateral massive enlargement of kidneys, most due to mutation in PKD1 (chromosome 16)
autosomal dominant polycystic kidney disease
AD, colon becomes covered with adenomatous polyps after puberty, mutations in chromosome 5,
familial adenomatous polyposis
familial adenomatous polyposis & familial hypercholesteroemia
autosomal dominant
AKA osler weber rendu syndrome; presents with telangiectasia, recurrent epistaxis, skin discolortion, AV malformation
hereditary hemorrhagic telangiectasia, autosomal dominant
spheroid erythrocytes
hereditary spherocytosis, AD
CAG repeats on chromosome 4
huntington disease, AD
marfan syndrome
autosomal dominant
familial tumors of endocrine glands, assc’d with ret gene
multiple endocrine neoplasias, AD
cafe au lait spots, mutations on chromosome 17
neurofibromatosis type 1, AD
bilateral acoustic schwannomas, juvenile cataracts, mutations on chromosome 22
neurofibromatosis type 2, AD
numerous benign hamartomas
tuberous sclerosis, AD
von hippel lindau - what chromosome, what mode of inheritance?
chromosome 3, AD
development of numerous tumors
von hippel lindau
cystic fibrosis
autosomal recessive
