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AUC: MCB I Block 3 Week 1/2 Diseases Quiz Stats

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Description Letter / Answer % Correct
This autosomal recessive inherited disease occurs from a mutation in Chloride ion channel proteins on the plasma membrane. Symptoms: clubbed fingers, respiratory infections, etc.i
Cholesterol accumulates on the outer leaflet of RBC's plasma membrane distorting its shape. Associated with chronic liver disease.a
Autosomal Dominant. This disease occurs from a RBC cytoskeleton protein defect. Possible proteins affected: spectrin, ankyrin, or protein 4.1c
A laminopathy - Lamin A/C defect where pre-lamin A interacts with adipocyte TF causing accumulation of adipose tissue in face and neck and peripheral lipoatrophy.f
This laminopathy is rare, resulting from a lamin A/C protein defect. Fragile nuclear lamina leads to cell death which leads to hypertrophy of the heart and congestive heart failured
Laminopathy - Lamin A defect results in an unstable nuclear envelope causing a bleb or herniation of the NE. Symptoms: alopecia (premature hair loss), stunted growth, etc.e
This toxin cleaves synaptobrevin (a vsnare) inhibiting ACh release at neuromuscular junction causing flaccid paralysis.k
This laminopathy occurs from a mutation in lamin A/C proteins. Symptoms: contractures (especially of the elbows, ankles, and neck), muscle weakness and atrophy, arrythmias, etc.b
Disease results from a mutation in the LDL receptor where it folds incorrectly. Symptoms: xanthomata, corneal arcus, or atherosclerosis. Homozygotes are affected more severely.h
This toxin cleaves synaptobrevin (a vsnare) preventing vesicle fusion and release of GABA and glycine (neurotransmitters) resulting in violent spastic paralysis.l
Disease that occurs from muation in N-acetylglycosamine phosphotransferase which adds the M6P tag to proteins. Results in acid hyrolases secreted extracellularly.j
Description Letter / Answer % Correct
Peroxisomal disorder where allopurnil inhibits xanthine oxidase leading to buildup of uric acid crystals in joints leading to inflammation and joint destruction.r
Nuclear Substructure Disorder: mutation in SMN protein (located in Gems) leading to defective SnRNPs resulting in loss of motor neurons in the CNS.g
An auto recessive lysosomal storage disease and most severe Mucopolysaccharide (MPS) disorder. Deficiency of alpha-L-iduronidase leading to GAG accumulation.o
X-Linked lysosomal storage disease. Deficiency of iduronodate sulphatase leads to buildup of GAGs. Milder Mucopolysaccharide disorder, No corneal clouding. n
Auto recessive, Mutation in lysosomal trafficking regulatory pathway / defect in microtubule polymerization. Autophagocytosis of melanosome leading to albinism.p
Peroxisomal disorder: PEX gene mutation. Peroxisomes unable to recognize SKL signal so peroxisomes are empty. Buildup of very long chain fatty acids in body.q
Mutation where LDL receptors are too far spread out on the PM to be effective.h
Most common peroxisomal disorder. Defect in transport of VLCFAs into peroxisome. VLCFAs accumulate in body. Myelin breakdown and adrenal atrophy.s
Most common lysosomal storage disease. Accumulation of the lipid glucocerebroside. Leads to progressive hepatosplenomegaly and other accumulation symptoms.m
X-Linked Mitochondrial Disorder: Cardiolipin synthesis defect. Symptoms: cardiomyopathy, generalized muscle weakness and fatigue.t

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Created Oct 17, 2010ReportNominate
Tags:Biology Quiz, education

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