test 2-AD diseases Flashcards
achondroplasia
1: 10,000
“dwarfism”.
Associated w advanced paternal age (mutation) or w AD.
- Short stature men 131cm and women 123 cm
Apert syndrome
congenital disorder w malformation of face, skull, hands+ feet (syndactyly-fuse)
- premature fusion of skull bones
Familial hypercholesterolemia
high cholsterol+LDL
CV (Cardiovasc) disease: atherosclerosis (plaque blocks arterial flow
- angina pectoris- chest pain
Marfan’s disease
CT disorder: misfolding of fibrillin (elastic fibers)
defects of heart valves + aorta
- unusually tall, long limbs and long thin digits
Huntington chorea/disease
1:10,000
neurodegenerative genetic disorder: death of brain cells that affect muscle coordination
- mental decline until dementia
- late onset (30-50y)
- expansion of CAG triplet which codes for huntingtin protein that damages cells in brain
Myotonic dystrophy
long term disorder affects muscle loss+ weakness
muscle contracts and they can’t relax
symptoms:
- cataracts; intellectual disability; heart conduction problems; and sterility in men
Neurofibromatosis
1:5000 (over 20y)
tumour grow in NS = usually benign
tumous involve supporting cells (glial)
Osteogenesis imperfecta
congenital bone disease
bones break easily+ lack collagen 1
symptoms
- blue colour to whites of eyes; short height; loose joints; hearing loss; breathing problems; and teeth problems
Polycystic kidney disease
1:1000 (over 40y)
growth of many cysts in kidney
onset disease but can manifest in children
Polydactily
many digits
Brachydactyly
short digits due to mutation affecting bone growth
Familial adenomatous polyposis coli
1-10,000 (over 20y)
polyps grow in colon/rectum and becomes malignant
Retinoblastoma
malignant tumour in retina
manifests in first 3y
arises unilaterally+ somatic mutation of RB1 gene
congenital cataracts
1: 6,500
disease of lens in eye
inborn deafness/mutism
1: 7500
