Diseases (AD or AR?)

AD. Cell-signaling defect of fibroblast growth factor receptor 3. Results in dwarfism; short limbs, but head and trunk are normal size. Associated with advanced paternal age.

AD. Formerly known as adult polycystic kidney disease. Always BILATERAL, massive enlargement of kidneys due to mulitple cysts. Present with flank pain, hematuria, HTN, progressive renal failture. 90% of cases are due to mutation in APKD1. chromosome 16 (16 letters in polycystic kidney) Associated with polycystic liver disease, berry aneurysms, mitral valve prolapse. Infantile form is AR.

AD. Colon becomes covered with polyps after puberty; progresses to colon cancer unless resected. Deletion on chromosome 5 (APC gene)' 5 letters in "polyp."

AD. Elevated LDL due to defective or absent LDL receptor. Heterozygotes have elevated cholesterol around 300 mg/dL. Homozygotes have 700+, severe atherosclerotic disease early in life, and tendon xanthomas; MI before age 20

AD. Inherited disorder of blood vessels. Findings; telangetasias, recurrent epistaxis, skin discolorations, AVMs

AD. Spheroid erthyrocytes due to spectrin or ankyrin defect; hemolytic anemia; inc. MCHC. Splenectomy is curative.

AD. Findings: depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and ACh in the brain. Symptoms manifest between ages 20 and 50. Gene located on chromosome 4; trinucleotide repeat disorder w/anticipation; Hunting "4" food.

AD. Fibrillin gene mutation -> connective tissue disorder affecting skeleton, heart, and eyes. Findings: tall with long extremities, pectus excavatum, hyperextensive joints, long, tapering fingers & toes, cystic medial necrosis of aorta -> aortic incompetence and dissecting aortic aneurysms; floppy mitral valve. Subluxation of lenses.

AD. 1 w/menin, 2 w/ ret. 2a = parathyroid, medullary thyroid, pheo. 1 = pituitary, parathyroid, pancreas

AD. Findings: cafe-au-lait spots, neural tumors, Lisch nodules, skeletal disorders, optic pathway gliomas, pheos, and inc. tumor susceptibility. Long arm of chromosome 17; von Recklinghausen has 17 letters.

AD. Bilateral acoustic neuroma, juvenile cataracts. NF2 gene on chromosome 22; type 2 =22.

AD. Findings: facial lesions, hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas, Incomplete penetrance, variable presentation.

AD. Findings: hemangioblastomas of retina/cerebellum/medulla; about half of affected individual develop multiple bilateral renal cell carcinomas and other tumors. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3. Results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth fators. Von Hippel-Lindau = 3 words for chromosome 3.

AR

AR!

AR. defect in CFTR gene on chromosome 7, commonly deletion of Phe 508. CFTR channel actively secretes Cl in lungs and GI tract and reabsorbs it from sweat. Defective Cl channel means abnormally thick mucus in lungs/GI tract. Infertility in males.

AR

AR

AR

AR

AR

AR

AR

X-linked recessive

X-linked recessive

X-linked recessive

X-linked recessive

X-linked recessive

X-linked recessive

X-linked recessive

X-linked recessive

X-linked recessive

X-linked recessive