Autosomal dominant vs recessive mnemonics

[hispurpose]

---

Members don't see this ad.

How do you guys remember which diseases are AR, AD or x-linked?

Thanks!!!

 

[Staradmiral]

Most diseases are autosomal recessive so you don't need to memorize those ones. Just memorize which are XD, mitochondrial, AD, XR etc and if you see a disease that you don't know then it must be by default AR.

Its like memorizing essential vs non-essential amino acids. You only need to memorize one side of the table

 

[DoctwoB]

How do you guys remember which diseases are AR, AD or x-linked?

Thanks!!!

If its a genetic immunodeficiency, its probably x-linked recessive (SCID has AR forms, Job's has AD forms). If its a tri-nucleotide repeat, its probably dominant, except for friedrich's ataxia, which is AR (x-linked dominant for fragile X obviously)

 

[Rokitansky]

The vast majority of errors in metabolism are AR, like someone said above, just make a list of the ones that aren't AR and memorize those. For the non-metabolic diseases, I typically make associations that make sense to me and it sticks.

 

[MrBigglesworth]

Just to add in, usually AR are enzyme deficiencies whereas AD are usually structural problems.

This is just a general rule, but it covers like 90% of stuff.

Good luck

 

[coralis]

AR -> mostly enzyme deficiencies or issues w/ protein folding...

AD -> gene issues I have a mnemonic:

HAMn gives you ba(l)d cholesterol.

Huntington
Acute intermittent porphyria
Marfan's
NF1
Baldness (Allopecia)
Familial hypercholesterolemia II (LDL receptor deficiency)

X linked dominant:

Fragile bones --> Fragile X and hypophosphatemic rickets

x- linked recessive I just kinda try to memorize them

 

[unsung]

Just to add in, usually AR are enzyme deficiencies whereas AD are usually structural problems.

This is just a general rule, but it covers like 90% of stuff.

Good luck

Goljan? 😉

Yes, this is a great rule. Also, AD diseases tend to be later-onset, think Huntington's- the mvm disorder starts in 30s-40s, or AD polycystic kidney disease- giant kidney w/ declining fn in 40s-50s.

And, it kind of makes sense to me that enzyme deficiency disorders would be AR-- since oftentimes you really need an absence of enzyme to make a phenotypic difference. It also makes sense that these would tend to present earlier in life, such as AR polycystic kidney disease.

 

[Step1Hash]

Goljan? 😉

Yes, this is a great rule. Also, AD diseases tend to be later-onset, think Huntington's- the mvm disorder starts in 30s-40s, or AD polycystic kidney disease- giant kidney w/ declining fn in 40s-50s.

And, it kind of makes sense to me that enzyme deficiency disorders would be AR-- since oftentimes you really need an absence of enzyme to make a phenotypic difference. It also makes sense that these would tend to present earlier in life, such as AR polycystic kidney disease.

it's in FA too lol

 

[nitpick]

AR -> mostly enzyme deficiencies or issues w/ protein folding...

AD -> gene issues I have a mnemonic:

HAMn gives you ba(l)d cholesterol.

Huntington
Acute intermittent porphyria
Marfan's
NF1
Baldness (Allopecia)
Familial hypercholesterolemia II (LDL receptor deficiency)

X linked dominant:

Fragile bones --> Fragile X and hypophosphatemic rickets

x- linked recessive I just kinda try to memorize them

Thanx!!

 

[katarina90]

it's in FA too lol

Yup. Also in chapter 5 of Big Robbins.