Von Hippel Lindau Von Recklinghausen Disease Disease Type 1 Type 2 Type Autosomal Dominant Autosomal Dominant Autosomal Dominant Mutation VHL NF1 Mutation NF2 Mutation Chromosome Chromosome 3 Chromosome 17 Chromosome 22 Loss of Tumor Problem Loss of Tumor Suppressor Gene Loss of Tumor Suppressor Gene Suppressor Gene Bilateral Acoustic Hemangioblastomas (CNS) Neurofibromas Schwannomas Clinical Features Renal Cell Carcinoma Café au Lait Spots Meningiomas Pheochromocytoma Lisch Nodules (Iris) Café au Lait Spots NO LISCH NODULES Renal Cell Carcinoma is Multiple and Extras Bilateral because of the inherited gene affect. Familial Hypercholesteremia is the Most Common. LDL Receptor Defect Xanthomas, MIs, Atherosclerosis, etc. Created by Brittni McClellan Mucopolysaccharidoses:
Von Hippel Lindau Disease Von Recklinghausen Disease Type Autosomal Dominant Type 1 Autosomal Dominant Type 2 Autosomal Dominant Mutation VHL NF1 Mutation NF2 Mutation Chromosome Chromosome 3 Chromosome 17 Chromosome 22 Problem Loss of Tumor Suppressor Gene Loss of Tumor Suppressor Gene Loss of Tumor Suppressor Gene Clinical Features Hemangioblastomas (CNS) Renal Cell Carcinoma Pheochromocytoma Neurofibromas Café au Lait Spots Lisch Nodules (Iris) Bilateral Acoustic Schwannomas Meningiomas Café au Lait Spots NO LISCH NODULES Extras Renal Cell Carcinoma is Multiple and Bilateral because of the inherited gene affect. Familial Hypercholesteremia is the Most Common. LDL Receptor Defect Xanthomas, MIs, Atherosclerosis, etc. Created by Brittni McClellan Mucopolysaccharidoses:
pathology-1-block-2-genetic-disorder-charts.docx