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Autosomal Dominant

Presentations of Autosomal Dominant diseases

Dwarfism; short limbs, normal trunk and head. Associated with advanced paternal age Defect in FGFr3 Achondroplasia
Bilateral, massive enlargement of kidneys, flank pain, hematuria, hypertension, progresses to renal failure APKD1 Chr. 16 ADPKD
Adenomatous polyps of the colon after puberty, progresses to colon cancer Del. APC chr. 15 FAP
Elevated LDL, severe atherosclerotic disease, tendon xanthomas, MI<20 Defect in LDL receptor Familial Hypercholesterolemia (Hyperlipidemia Type II
Telangiectasia, recurrent epistaxis, skin discolorations, AV malformations Inherited blood vessel disorder Hereditary hemorrhagic telangiectasia Osler-Weber-Rendu
Spheroid erythrocytes, hemolytic anemia, ^MCHC Defect in Ankyrin/Spectrin Hereditary spherocytosis
Depression, Dementia, Choreiform movements, caudate atrophy, 20-50 CAG repeats on Chr. 4 --> low GABA and ACh in brain. Huntington's Dzs
Tall with long extremities, pectus excavatum, hyperextensible joints, long tapering fingers and toes Cystic medial necrosis of aorta --> aortic incompetence, dissecting aortic aneurysm, floppy mitral valve, subluxation of lenses Fibrillin gene mutation --> connective tissue disorder affecting Skeleton, Heart, Eyes Marfan's Syndrome
Parathyroid tumors Pituitary tumors (prolactin or GH) Pancreatic endocrine tumor (ZE, VIP, insulinoma, glucagonoma) kidney stones and stomach ulcers Multiple Endocrine Neoplasia Type 1 MEN 1 (3p's)
Parathyroid Tumor Pheochromocytoma Medullary Thyroid carcinoma (calcitonin) ret gene defect MEN 2A (2P's)
Pheochromocytoma Oral/intestinal ganglioneuromatosis Tall, skinny, long finger and toes (marfanoid) ret gene defect MEN 2B (1P)
Cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), optic pathway gliomas, skeletal disorders (scoliosis) Mutated NF-1 gene, Chr. 17 (von Recklinghausen) NF-1
Bilateral acoustic schwannomas, Juvenile cataracts Mutated NF-2 gene, Chr. 22 NF-2
Hamartomas in CNS, skin, and organs; cardiac rhabdomyomas, renal angiomylipoma, subependymal giant cell astrocytoma, mental retardation, seizures, hypopigmented "ash leaf spots", sebaceous adenoma, shagreen patch. Tuberous Sclerosis
Cavernous hemangiomas in skin, mucosa, organs; Bilateral Renal cell carcinoma; Hemangioblastoma in retina, medulla, cerebellum; Pheochromocytomas Del. VHL gene --> constitutive HIF and active angiogenic growth factors von Hippel Lindau dz
Created by: spud5892



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