Genetic Diseases by Inheritance

Click the image below for a high-res hand-drawn table sorting various genetic diseases by autosomal vs. x-linked as well as dominant vs. recessive inheritance. This is obviously not every disease known to man, but I think it’s fairly exhaustive for the USMLE Step 1. Little notes are included for each disease, e.g. chromosomal translocation or key clinical symptom. As a very visual person, giving each item a physical place on this “map” as well as a color made it much easier for me to remember them all.

NB: I do *NOT* recommend trying to learn the diseases using this (there is not enough detail, and the notes may be confusing if you have no context). Please use as a memorization tool/reference after you study the diseases from a book/class.

Describes: Collagen defects like Ehlers-Danlos, Alpert Syndrome, and Osteogenesis Imperfecta (which one of those three is X-linked, do you know?); imprinting defects with chromosomal location (which one is at 11p15?) as well as whether they are material (“mat”) or paternal (“pat”); syndromes associated with trinucleotide repeats and whether or not anticipation is expected in the maternal vs. paternal line (symbolized with gender symbols); familial cancer syndromes associated with loss of heterozygosity, e.g. Li Fraumeni, Lynch, Tuberous Sclerosis, etc., as well as those that require both hits, like Ataxia Telangiectasia; hereditary metabolic syndromes like homocysteinuria, phenylketonuria, Fabry disease, etc.; the one co-dominant genetic disease that seems to come up (familial hypercholesteremia), which I positioned vertically right at the border between dominant and recessive; and so many more…

Materials: Muji pens, Whitelines graph paper.

Photographed and then touched up in Adobe Lightroom*.
*Incidentally, I’m not thrilled with how it came out in Lightroom, and I think I may switch back to Snapseed.

As a peek behind the curtain, here’s what it looked like before Lightroom… 😉

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