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) | |
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 |
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