Science Quiz / AD, AR, XR

Random Science Quiz

QUIZ: Can you name the AD, AR, XR ?

Quiz not verified by Sporcle

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

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

Score Distribution

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.