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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
90.4%
Cholesterol accumulates on the outer leaflet of RBC's plasma membrane distorting its shape. Associated with chronic liver disease.a
89.6%
Autosomal Dominant. This disease occurs from a RBC cytoskeleton protein defect. Possible proteins affected: spectrin, ankyrin, or protein 4.1c
89.6%
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
88.7%
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
87%
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
87%
This toxin cleaves synaptobrevin (a vsnare) inhibiting ACh release at neuromuscular junction causing flaccid paralysis.k
87%
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
86.1%
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
85.2%
This toxin cleaves synaptobrevin (a vsnare) preventing vesicle fusion and release of GABA and glycine (neurotransmitters) resulting in violent spastic paralysis.l
85.2%
Disease that occurs from muation in N-acetylglycosamine phosphotransferase which adds the M6P tag to proteins. Results in acid hyrolases secreted extracellularly.j
84.3%
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
84.3%
Nuclear Substructure Disorder: mutation in SMN protein (located in Gems) leading to defective SnRNPs resulting in loss of motor neurons in the CNS.g
82.6%
An auto recessive lysosomal storage disease and most severe Mucopolysaccharide (MPS) disorder. Deficiency of alpha-L-iduronidase leading to GAG accumulation.o
82.6%
X-Linked lysosomal storage disease. Deficiency of iduronodate sulphatase leads to buildup of GAGs. Milder Mucopolysaccharide disorder, No corneal clouding. n
82.6%
Auto recessive, Mutation in lysosomal trafficking regulatory pathway / defect in microtubule polymerization. Autophagocytosis of melanosome leading to albinism.p
81.7%
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
80.9%
Mutation where LDL receptors are too far spread out on the PM to be effective.h
78.3%
Most common peroxisomal disorder. Defect in transport of VLCFAs into peroxisome. VLCFAs accumulate in body. Myelin breakdown and adrenal atrophy.s
77.4%
Most common lysosomal storage disease. Accumulation of the lipid glucocerebroside. Leads to progressive hepatosplenomegaly and other accumulation symptoms.m
75.7%
X-Linked Mitochondrial Disorder: Cardiolipin synthesis defect. Symptoms: cardiomyopathy, generalized muscle weakness and fatigue.t
71.3%

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

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