Paid To Popup MBBS MADE EASY: Autosomal Dominant Diseases

Friday, November 19, 2010

Autosomal Dominant Diseases

FEW Hereditory Problems HAVE AUTOSOMAL DOMINANT Character

•F - Familial Hypercholestrolemia (LDL receptor defect Type IIa)
Familial Adenomatous Polyposis
Fibrodysplasia Ossificans Progressiva
•E - Ehlor's Danlos (vascular type)
•W - Waardenburg Syndrome
•Hereditory - Hereditory Spherocytosis
•Problems - Peutz Jeghers Syndrome
Pfeiffer Syndrome
•H - Huntington's Disease
Hypokalemic Periodic Paralysis
Hypertrophic Obstructive Cardiomyopathy (HOCM)
•A - Alexander Disease
Antithrombin Deficiency
•V - Von Willebrand Disease
Von Hippel Lindau
•E - Ectrodactyly

•Adult Polycystic Kidney Disease
•Uroporphyrinogen Decarboxylase Deficiency (Inherited Porphyria Cutanea Tarda)
•Tuberous Sclerosis
•Osteogenesis Imperfecta (Except Type VII)
•Superoxide Dismutase Deficient (Amyotrophic Lateral Sclerosis)
•Osteopetrosis Type II (Adult type)
•Marfan Syndrome
•Li-Fraumeni Syndrome

•Dystrophia Myotonica
•Osler-Weber-Rendu Syndrome
•Multiple Endocrine Neoplasia
•Insomnia (Fatal Familial)
•Noonan Syndrome
•Acute Intermittent Porphyria
•Treacher Collins Syndrome

•Character - Charcot-Marie-Tooth Syndrome
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