General genetics / metabolic 2 Flashcards
Long QT syndrome
features
gene(s)
inheritance
- defects in ion channel signaling; leads to syncope, palpitations; onset usually in childhood
- KCNQ1, KCNH2
- AD inheritance
Arrhythmogenic right ventricular cardiomyopathy
features
gene(s)
inheritance
- fibrofatty replacement of cardiac cells; leads to syncope, palpitations, sudden death; onset ~40y
- PKP2; DSG2; DSP
- AD inheritance
Hypertrophic cardiomyopathy
features
gene(s)
inheritance
- thickening of (often left) ventricle; leads to shortness of breath, dizziness, syncope, palpitations, increased stiffness, sudden death; onset 15-35y
- MYH7, MYBPC3
- AD inheritance
Cornelia de Lange syndrome
features
gene(s)
inheritance
- distinctive facial features; growth retardation; hirsuitism; upper limb reduction defects; severe ID
- NIPBL, SMC1A, SMC3 genes
- NIPBL/SMC3: AD inheritance; SMC1A: XL inheritance
Cat-eye syndrome
features
gene(s)
- iris coloboma; kidney abnormalities
- 22q tetraploidy
PKU
features
gene(s)
inheritance
- ID develops throughout childhood w/o restricted diet
- PAH gene
- AR inheritance
MSUD
features
gene(s)
inheritance
- severe symptoms onset days after birth; diet restriction leads to favorable outcomes
- BCKDHA, BCKDHB, DBT genes
- AR inheritance
Wilson disease
features
gene(s)
inheritance
- copper metabolism disorder; hepatic, neurologic, psychiatric features onset age 3-50+
- ATP7B gene
- AR inheritance
Menkes syndrome
features
gene(s)
inheritance
- defect in copper transport
- normal development until age 2-3m –> loss of milestones –> neurologic and hair texture changes –> death by age 3y
- ATP7A gene
- XLR inheritance
Methylmalonic acidemia
features
gene(s)
inheritance
- severe symptoms onset neonatally or in infancy
- MUT, MMAA, MMAB, MCEE, MMADHC genes
- AR inheritance
Glutaric acidemia
features
gene(s)
inheritence
- severe symptoms onset usually in infancy; macrocephaly
- GCDH gene
- AR inheritance
Charcot-Marie-Tooth disease
features
gene(s)
inheritance
- inherited peripheral neuropathies
- many genes and all inheritance types
- -PMP22 gene duplication leads to CMT1A which is AD
- -PMP22 gene deletion leads to HNPP which is AD
- -GJB1 gene mutation leads to CMT1X which is XL
Huntington’s disease
features
gene(s)
inheritance
- motor deficits; loss of voluntary movement; cognitive challenges; psychiatric symptoms
- HTT gene repeat expansion
- AD inheritance
Crouzon syndrome
features
gene(s)
inheritance
- normal intellect and extremeties; craniofacial (proptosis, strabismus, mandibular prognathism)
- FGFR2 gene
- AD inheritance
What are the FGFR-related craniosynostosis syndromes?
- Pfeiffer
- Apert
- Crouzon
- Beare-Stevenson
- FGFR2-related isolated coronal synostosis
- Jackson-Weiss
- Crouzon w/acanthosis nigricans
- Muenke