AD, AR, XR

Random Science Quiz

Can you name the AD, AR, XR ?

Quiz not verified by Sporcle

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

Friend Scores


  Player Best Score Plays Last Played
You You haven't played this game yet.

You Might Also Like...

Extras

Created May 24, 2012ReportNominate
Tags:disease