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Autosomal-Dominant Diseases listed from FA

Achondroplasia -Cell signaling defect of FGFR3 -FGF = Fibroblast Growth Factor Receptor 3 -Presents: Dwarfism, short limbs but Head and Trunk are Nml Size -A/w advanced Paternal Age
ADPKD (AD-Polycystic Kidney Dz) -Bilateral -Massive enlargement due to Multi-Cyts -Defect: Mutation of PDK1 on Chromo 16 -Presents: Flank pain, Hematuria, HTN, Progressive Renal Failure, BERRY ANEURYSMS, MVP (Mitral Valve Prolapse), -Infantile form is recessive
FAP (Familial Adenomatous Polyposis) -Defect: Mutation of Chromo 5 (APC gene) (think Polyp--> 5 letters--> Chromo 5) -Colon covered w. Adenomatous Polyps post-puberty -Leads to Colon Cancer
Familial Hypercholesterolemia (Hyperlipidemia Type IIA) -Defect: Defective or Absent LDL receptor -Homo--> Very Rate, Chol > 700mg/dl -Hetero--> Chol = 300mg/dl -Presents: Tendon Xanthomas (MC = Achilles Tendon), MI by 20yo, Severe Atherosclerotic Dz
Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia) -Defect: Inherited disorder of the BVs -Presents: MC sign= Epitaxis, AV-malformations, Skin discoloration, Telangiectasia
Hereditary Spherocytosis -Defect: Spectrin or Ankyrin -Presents: Increased MCHC w. Spheroid RBCs -Tx: Splenectomy = Curative
Huntington's Dz -Defect: CAG repeat on Chromo 4 -Presents: Depressed, progressive dementia, choreiform movements -Tests: Caudate Atrophy, Decreased GABA and ACh in Brain -Onset: 20-50 -Anticipation Dz--> Severity worsens in succeeding generations
Marfan's Syndrome -Defect: Fibrillin Gene Mutation -think Abraham Lincoln -Presents: Tall, Long and Lanky, Pectus Exacatum, Hyperextensive joints, Arachnodactyly, Cystic Medial Necrosis of Aorta--> Aortic Dissection, Floppy Mitral Valves
MEN-1 (Multiple Endocrine Neoplasia-1) (Wermer's Syndrome) -Familial tumors of Endocrine Glands -MEN 1= P's (Parathyroid, Pituitary, Pancreas)
MEN-2a (Multiple Endocrine Neoplasia-2a) -Pheochromocytoma and amyloid producing medullary thyroid carcinoma -Sipple Syndrome -PTC syndrome
MEN-2b (aka MEN-3) (Multiple Endocrine Neoplasia-2b (3)) -Causes multiple tumors on the mouth, eyes, and endocrine glands -Most severe type -Wagenmann–Froboese syndrome
NF1 (Neurofibromatosis 1) (von Recklinghausen's Dz) -Defect: Long Arm of Chromo 17 -think Von Recklinghausen--> 17 letters--> Chromo 17 -Presents: Cafe'-au-lait spots, Neural Tumors, Lisch Nodules (pigmented iris harmatomas--seen w. a Wood's Lamp) -Skeletal Disorder as well, Optic Pathway Gliomas
NF 2 (Neurofibromatosis 2) -Defect: NF2 gene on Chromo 22 -think Type 2 on Chromo 22 -Presents: Bilateral Acoustic Neruomas, Juvenile Cataracts
Tuberous Sclerosis (WTF, Dude) -Incomplete Penetrance, Variable presentation -Presents: Facial Lesions (Adenoma Sebaceum) -Hypopigmetnation (Ash Leaf Spots), Cortical and Retinal Hamartomas, Seizures, MR, Renal Cysts,renal Angiomyolipomas, Cardiac Rhabdomyomas -Inc risk of Astrocytom
von Hippel-Lindau Dz -Defect: Deletion of VHL gene on Chromo 3 -think von Hippel-Lindau--> 3 words--> Chromo 3 -Constitutive expression of HIF & + angiogenic growth factors -Presents: Multi-Bilateral Renal Cell Carcinoma -Hemangioblastomas or Retina/Cerebellum/Medulla
Created by: 1195530047