AUTOSOMAL DOMINANT DISEASES

ACHONDRODISPLASIA	Defect of FGFR 3	Dwarfism, associated with advanced paternal age
APKD(adult polycystic kidney disease)	90% due to mutation in APKD 1 (chromosome 16)	Always bilateral, massive enlargement of kidneys due multiples cysts. Associated with polycystic liver disease, berry aneurysm, mitral valve prolapse.
Familial adenomatous polyposis	Deletion on chromosome 5 (APC gene)	Colon becomes---adenomatous polyps after puberty.
Hyperlipidemia type II	Due by a defective or absent LDL receptor	Severe atherosclerotic disease, xanthomas(Achilles tendon), MI <20
Osler-Weber-Rendau syndrome	Disorder of blood vessels. Gene endoglin (ENG) or ALK-1	Telangiectasia, epistaxix, skin discoloration, AVMs
Hereditary Spherocytosis	Due Spectrin or Ankyrin defect	Spheroid erythrocytes, hemolytic anemia, high MCHM. Splenectomy is curative
Huntington’s disease	Gene on chromosome 4 Trinucleotide repeat disorder CAG	Dementia, depression, choreifrom movements, manifest---20-50 yrs old.
Marfan’s  syndrome	Fibrillin gene mutation (FBN 1 gene) on chromosome 15	Toll w/ long extremities Pectus excatum, hyperextension joins, arachnodactyly, berry aneurysm, subluxation of lenses
MEN (1-2A-2B)	MEN 1 – 11q13 MEN 2A-2B—ret gene	Familial endocrine glands(pancreas-parathyroid-pituitary-thyroid-adrenal medulla)
von Recklinghauses disease (NF type 1)	Chromosome 17	Café-au-lait spot, neural tumor, Lisch nodules.
NF type 2	Chromosome 22	Bilateral acoustic neuroma Juvenile cataracts

Tuberous sclerosis	Incomplete Penetrance, variable expression. Mutation on TSC 1-TSC 2 genes	Facial lesion (adenoma sebaceum), “ash leaf spot”, seizure, MR, renal cyst, cardiac rhabdomyomas.
von Hippel-Lindau disease	Deletion of VHL gene (tumor suppressor) on chromosome 3	Hemangioblastoma on retina/cerebellum/medulla. 50% develop bilateral cell carcinomas/ other tumor