AD, AR, XR

Random Science Quiz

Can you name the AD, AR, XR ?

Quiz not verified by Sporcle

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

You're not logged in!

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

You Might Also Like...

Show Comments

Extras


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.