Science Quiz / AD, AR, XR

Random Science Quiz

Can you name the AD, AR, XR ?

Quiz not verified by Sporcle

Forced Order
Score 0/32 Timer 20:00
DiseaseAD, AR, XR
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) - Inherited disorder of blood vessels
Bruton's agammaglobulinemia
Hereditary spherocytosis - Spheroid erythrocytes due to spectrin or ankyrin defect. Splenectomy is curative.
Von-Hippel Lindau disease- Hemangioblastomas of retina, cerebellum, medulla. Associated with deletion of VHL gene on chromosome 3. Activation of angiogenic growth factors
Ocular albinism
Sickle cell anemia
Cystic Fibrosis
ADPKD- Always bilateral. Berry aneurysms
NF2- Bilateral acoustic schwannoma. NF2 gene on chromosome 22
Familial Adenomatous Polyposis- Mutation on chromosome 5 (APC gene)
Multiple Endocrine Neoplasia- Associated with ret gene
Familial Hypercholesterolemia- Type IIA- Elevated LDL due to defective or absent LDL receptor
NF1 - Cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). On chromosome 17.
DiseaseAD, AR, XR
Achondroplasia - Cell signaling defect of FGFR3
Fabry's disease
Mucopolysaccharidoses (except Hunter's)
Hemophilia A and B
Sphingolipidoses (Except Fabry's)
Huntington's Disease- Decreased GABA and ACh in the brain.
Wiskott-Aldrich syndrome
Hunter's Syndrome
Tuberous sclerosis- Ash leaf spots. Seizures, mental retardation, angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas.
G6PD deficiency
Lesch-Nyan syndrome
Marfan's Syndrome- Fibrillin gene mutation- Cystic medial necrosis of aorta.
Duchenne's (and Becker's) muscular dystrophy
Glycogen storage diseases

You're not logged in!

Compare scores with friends on all Sporcle quizzes.
Sign Up with Email
Log In

You Might Also Like...

Show Comments


Top Quizzes Today

Quiz Stats

Your Account Isn't Verified!

In order to create a playlist on Sporcle, you need to verify the email address you used during registration. Go to your Sporcle Settings to finish the process.