Busy. Please wait.
or

show password
Forgot Password?

Don't have an account?  Sign up 
or

Username is available taken
show password

why


Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account.
We do not share your email address with others. It is only used to allow you to reset your password. For details read our Privacy Policy and Terms of Service.


Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
Don't know
Know
remaining cards
Save
0:01
To flip the current card, click it or press the Spacebar key.  To move the current card to one of the three colored boxes, click on the box.  You may also press the UP ARROW key to move the card to the "Know" box, the DOWN ARROW key to move the card to the "Don't know" box, or the RIGHT ARROW key to move the card to the Remaining box.  You may also click on the card displayed in any of the three boxes to bring that card back to the center.

Pass complete!

"Know" box contains:
Time elapsed:
Retries:
restart all cards
share
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

Autosomal Dominant

QuestionAnswer
Cell-signaling defect that results in dwarfism, short limbs, with normal head an trunk. Associated with ___. Gene: ___ Achondroplasia. Autosomal dominant; FGF3, associated with paternal age
Bilateral/unilateral enlargment of kidneys due to multiple large cysts. Presents with ___,___, ___, ___. mutation in ____ on chromosome ____. Associated with ____, ____, ____. Infantile form is ad/recessive? APKD. Autosomal dominant; APKD1 (16). Sx: flank pain, hypertension, hematuria, renal failure. Associated with polycystic liver disease, berry aneurysms, mitral valve prolapse. infantile = recessive.
Colon becomes covered with adenomatous polyps after puberty. Type of mutation? Gene ___, chromosome _____. FAP; autosomal dominant. APC gene, chromosome 5 due to a deletion.
Elevated LDL. Associated with ___, ____, ____. Type of defect? Familial hypercholesterolemia(hyperlipidemia type IIA); Autosomal dominant. Defective LDL receptor. Associated with atherosclerotic disease early in life, tendon xanthomas (achilles), MI
Telengiectasia, recurrent epistaxis, skin discolorations, AVMs Osler-Weber-Rendu (Hereditary hemorrhagic telangiectasia. Autosomal dominant;
autosomal dominant blood disorder with hemolytic anemia and abnormal RBC. Defect is due to ____. It causes ____ erythrocytes. Treatment is ____. Hereditary Spherocytosis. Spectrin/ankrin defect (structural). Causes spheroid erythrocytes. Lab: low hemoglobin with increased MCHC. Treatment is splenectomay
Huntington disease is ____ (AD/AR etc). Caused by what type of mutation. Located on what chromosome? What NTs are abnormal? Autosomal dominant (CAG) trinucleotide repeat. Located on chromosome 4.
Marfan's gene ____. Autosomal dominant/recessive etc. Fibrillin. Autosomal dominant
MEN disorders are associated with what gene? AD/AR, etc? ret. AD. I: Pituitary, parathyroid, pancreatic endocrine (Zollinger ELlison, insulinoma, VIPoma) (kidney stones, ulcers). II: parathyroid, pheochromocytoma, medullary thyroid cancers, IIB: thyroid, pheochromoctyoma, oral/intestinal ulcers, habitus
Von Recklinghousen, Osler-Weber-Rendu, Von-Hippel Lindau Von recklinhousen: NFI, Osler-Weber-Rendu: Hereditary hemorrhagic telangiectasia, VHL: renal cell carcinoma, hemangioblastoma, pheochromocytoma.
mutation of a gene on chromosome 17. What are the symptoms? Autosomal dominant. cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris harmartomas. Skeletal disorders including optic pathyway gliomas, pheochromocytoma and tumor susceptibility.
NF2: symptoms, inheritance, gene and chromosome Bilateral acoustic neuroma, juvenile cataracts. NF2 (22).
Tuberous sclerosis Autosomal dominant. Facial lesions (adenoma sebaceum), ash-leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabdomyosms, increased incidence of astrocytoms.
Hemangioblastoma, renal cell carcinoma, Von Hippel Lindau. chromosome 3 (constitutive expression of HIF and activation of angiogenic growth factors.
Created by: ddecampo