genetics Flashcards by Bri deer | Brainscape

Q

Deletion fo 22q11.2 (TBX1)

A

DiGeorge synd

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Q

KCNQ1

A

long QT synd

- short QT synd

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Q

GATA4, TBX20

A

adult-onset cardiomyopathy

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Q

TTN (titin)

A

dilated caridiomyopathy (AD)

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Q

tafazzin mutation

A

endocardial fibroelastosis

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Q

Hyperactive TGF-b

A

Marfan synd and Loeys-Dietz synd

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Q

B-MHC

A

hypertrophic cardiomyopathy

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Q

GATA4, TBX5, NKX2-5

A

A/VSD

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Q

JAG1, NOTCH2

A

tetralogy of Fallot

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Q

CASQ2

A

CPVT synd

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Q

CAV3

A

-long QT synd

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Q

TSC1/2

A

rhabdomyoma

TS so allows myocyte grth

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Q

RYR2

A

CPVT synd

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Q

Leukotriene B4 metablism

A

MI in pts without aths

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Q

MYBP-C

A

hypertrophic cardiomyopathy

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Q

SCN1b

A

-brugada synd

Q

PDGFR genes

A

loeffler endomyocarditis

Q

mutations in cell adhesion proteins and desmosomes

A

Arrhythmogenic RV cardiomyopathy (ARVC) (AD)

Q

KCNH2

A

long QT synd

- short QT synd

Q

NOTCH1

A

bicuspid aortic valce defect

Q

cTnT

A

hypertrophic cardiomyopathy

Q

mutations in the gene encoding the desomosome-assoc protein plakoglobin.

A

naxos synd

Q

a-tropomyosin

A

hypertrophic cardiomyopathy

Q

SCN5A

A

long QT synd

- brugada synd

Q

CACANB2b

A

-brugada synd

Q

PRKAR1A

A

myxoma

carney complex

Q

GNAS1

A

myxoma

McCune-Albright synd