MOD 4 Genetic Disorders diseases Flashcards by Ross Larson | Brainscape

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Marfan syndrome

what gene? chromosome? defect in what?

run in family?

meachnisms by loss of ____ leads to clinical manifestations?

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Marfan

patient body structure?

head?

can be seen torso?

lens?

heart?

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EDS: defect in? how many variants?

main findings? (2) can cause what problems?

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Ehlers-Danlos Syndrome classification

how many types?

types we are interested in? gene defects?

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mutation of receptor for LDL?

frequency?

this will cause what to happen? increased risk for?

what pop more severely affected?

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storage Dzs? (where)

works how?

leads to?

primary? secondary?

3 approaches to treatment?

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Lysosomal storage diseases

what specific ones?

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storage diseases affect what population preferentially? cause? most common? (2 main categories one has 1 the other 2 sub categories)

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Tay-Sachs

what deficiency? what chromosome? severe deficiency of?

Highest rate in what population?

affected at what times in life? symptoms? common sign on physical exam?

what accumulates? where?

positive stains?

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plus cherry-red spot in macula

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Lysosomal accumulation of sphingomyelin due to an inherited deficiency of ___________? disease name? common in what population? inheritance pattern? chromosome? different types?

morphology of cells? contains what?

red spots?

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staining?

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Niemann-Pick

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Most common lysosomal disorder? mutation of? accumulation of? where? damage caused by? leads to activation of?

types? which is chronic? differences?

morphology? cells? where?

IMPORTANT FINDING?

Tx?

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MPS: deficiency of? what is present? what type of inheritance?

2 big features? others? how many types?

2 big types you need to know? difference?

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MPS: mucopolysaccharides are what type of cell? locations? histo present? one similar to?

common to all MPSs? (findings)

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difference between hunter and hurler?

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principal subgroups of glycogenoses

two types we need to know?

what type are they?

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glycogen storage diseases: called?

deficiency of? result in? mainly where?

3 major subgroups? disease/enzyme?

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glycogen metabolism

hepatic type/myopathic type

each usually leads to? with disease leads to?

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