Autosomal Dominant Disorders Flashcards
Polycystic Kidney Disease arrises from mutations in what?
Chromosome 16 (PKD 1) or Chromosome 4 (PKD 2)
Familial Adenomatous Polyposis has mutations on what chromosome?
5q APC gene
Familial hypercholesterolemia is a condition leading to what?
Increased LDL and absent LDL receptors.
Severe atherosclerotic disease with corneal arcus and tendon xanthomas.
Hereditary Heomorrhagic telangiectasia causes?
Disease of blood vessels with skin lesions, recurrent epistaxis, AVMs, GI bleeds, - Osler-Weber-Rendu syndrome
Hereditary Spherocytosis
Spheroid erthroctes due to spectrin/ankyrin defect causing haemolytic anaemia
Huntington disease symptoms and cause?
Depression, early onset dementia, choriform movements, caudate atrophy.
Caused by trinucleotide repeats of CAG in chromosome 4.
Li-Fraumeni Syndrome has a defect in what gene?
TP53 gene, leads to multiple malignancies typically - Sarcoma, Breast, Leukaemia and adrenal gland
Marfan syndrome is a defect in what protein and gene?
FBN1 (fibrin) on Chromosome 15 leads to defective elastin binding.
Multiple endocrine Neoplasias MEN are associated with?
Tumours of the endocrine system such as pancreas, parathyroid, pituitary, thyroid and adrenal medulla.
Neurofibromatosis 1 has signs of what?
cafe au lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas and Lisch nodules. It has 100% penetrance but variable expression.
Neurofibromatosis 2 is NF2 gene on gene 22 but what are some findings in the disease?
Bilateral acoustic schwannomas, juvenile cataracts, meningiomas and ependymomas.
Tuberous sclerosis is an incomplete penetrance and variable expression AD but what is it characterized by?
Numerous benign Hamartomas.
Von hippel Lindau disease is due to a defect on Chr 3 what is its characteristics?
numerous malignant and benign tumours. Associated with VHL deletion which is a TS gene.
