Help
Options
Didn't know it?
click below
click below
Knew it?
click below
click below
Don't Know
Remaining cards (0)
Know
retry
shuffle
restart
0:00
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Autosomal Dominant
Presentations of Autosomal Dominant diseases
| Question | Answer |
|---|---|
| Dwarfism; short limbs, normal trunk and head. Associated with advanced paternal age | Defect in FGFr3 Achondroplasia |
| Bilateral, massive enlargement of kidneys, flank pain, hematuria, hypertension, progresses to renal failure | APKD1 Chr. 16 ADPKD |
| Adenomatous polyps of the colon after puberty, progresses to colon cancer | Del. APC chr. 15 FAP |
| Elevated LDL, severe atherosclerotic disease, tendon xanthomas, MI<20 | Defect in LDL receptor Familial Hypercholesterolemia (Hyperlipidemia Type II |
| Telangiectasia, recurrent epistaxis, skin discolorations, AV malformations | Inherited blood vessel disorder Hereditary hemorrhagic telangiectasia Osler-Weber-Rendu |
| Spheroid erythrocytes, hemolytic anemia, ^MCHC | Defect in Ankyrin/Spectrin Hereditary spherocytosis |
| Depression, Dementia, Choreiform movements, caudate atrophy, 20-50 | CAG repeats on Chr. 4 --> low GABA and ACh in brain. Huntington's Dzs |
| Tall with long extremities, pectus excavatum, hyperextensible joints, long tapering fingers and toes Cystic medial necrosis of aorta --> aortic incompetence, dissecting aortic aneurysm, floppy mitral valve, subluxation of lenses | Fibrillin gene mutation --> connective tissue disorder affecting Skeleton, Heart, Eyes Marfan's Syndrome |
| Parathyroid tumors Pituitary tumors (prolactin or GH) Pancreatic endocrine tumor (ZE, VIP, insulinoma, glucagonoma) kidney stones and stomach ulcers | Multiple Endocrine Neoplasia Type 1 MEN 1 (3p's) |
| Parathyroid Tumor Pheochromocytoma Medullary Thyroid carcinoma (calcitonin) | ret gene defect MEN 2A (2P's) |
| Pheochromocytoma Oral/intestinal ganglioneuromatosis Tall, skinny, long finger and toes (marfanoid) | ret gene defect MEN 2B (1P) |
| Cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), optic pathway gliomas, skeletal disorders (scoliosis) | Mutated NF-1 gene, Chr. 17 (von Recklinghausen) NF-1 |
| Bilateral acoustic schwannomas, Juvenile cataracts | Mutated NF-2 gene, Chr. 22 NF-2 |
| Hamartomas in CNS, skin, and organs; cardiac rhabdomyomas, renal angiomylipoma, subependymal giant cell astrocytoma, mental retardation, seizures, hypopigmented "ash leaf spots", sebaceous adenoma, shagreen patch. | Tuberous Sclerosis |
| Cavernous hemangiomas in skin, mucosa, organs; Bilateral Renal cell carcinoma; Hemangioblastoma in retina, medulla, cerebellum; Pheochromocytomas | Del. VHL gene --> constitutive HIF and active angiogenic growth factors von Hippel Lindau dz |
Created by:
spud5892
Popular USMLE sets