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First aid autosomal dominant disease table
Terms in this set (11)
Achondroplasia (short limbs, head and trunk normal size)
Cell-signaling defect of fibroblast growth factor receptor 3
Bilateral, massive enlargement of kidneys due to multiple large cysts. Patients present with flank pain, hematuria, htn, progressive renal failure. Associated with polycystic liver disease, berry aneurysms, MVP. Infantile form is recessive.
Colon becomes covered with adenomatous polyps after puberty, progresses to colon cancer.
Mutation in APC gene
Familial hypercholesterolemia (absent LDL receptor)
Elevated LDL, severe atherosclerotic disease early in life, tendon xanthomas
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu)
Telangiectasia, recurrent epistaxis, skin discolorations, AVMs, telangiectasias can be on skin and mucus, lips, oronasopharynx, respiratory tract, GI tract, GU tract.
Fibrillin gene mutation, tall with long extremities, pectus excavatum, hyperextensive joings, long, tapering fingers and toes, cystic medial necrosis of aorta (dissecting aortic aneurysms), floppy mitral valve, lens subuxation.
NF type 1 (von Recklinghausen's)
Cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders (scoliosis), optic pathway gliomas, PNS tumors, RAS pathway.
NF type 2
Bilateral benign acoustic schwannomas, RAS pathway, juvenile cateracts, meningeiomas.
Facial lesions, hypopigmented ash leaf spots on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas, cutaneous angiofibromas, pancreatic and liver cysts. Incomplete penetrance with variable presentation.
Von hippel Lindau
Hemangioblastomas of retina/cerebellum/medulla, multiple bilateral renal cell carinomas and other tumors, capillary hemangioblastomas in retina/cerebellum, congenital cysts or neoplasms in kidney, liver, pancreas.
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