path CLI Flashcards
a single mutant gene leads to many end effects
pleiotropism
mutations at several genetic loci may produce the same trait
heterogeneity
what is an example of pleiotropism
sickle cell anemia
what are some autosomal dominant disorders affecting the nervous system
huntington disease, neurofibromatosis, myotonic dystrophy, tuberous sclerosis
what are some autosomal dominant disorders affecting the urinary system
polycystic kidney disease
what is an autosomal dominant disorder that affects the GI system
familial polyposis coli
what are some autosomal dominant disorders that affect the hematopoietic system
hereditary spherocytosis, von willebrand disesease
what are some autosomal dominant disorders that affect the skeletal system
marfan syndrome (some), Ehler-danlos syndrome (some), osteogenesis imperfect, achondroplasia
what are some autosomal dominant disorders that affect the metabolic system
familial hypercholesteremia, acute intermittent porphyria
what is an X-linked disorder that affects the musculoskeletal system
duchenne muscular dystrophy
what is an X-linked disorder that affects the blood
hemophilia A and B, chronic granulomatous disease, glucose-6-phsphate dehydrogenase deficiency
what is an X-linked disorder that affects the immune system
agammaglobulinemia, wiskott-aldrich syndrome
what is an X-linked disorder that affects the metabolic system
diabetes insipidus, lesch-nyhan syndrome
what is a disorder of connective tissues, manifested primarily by changes in skeleton, eyes, and cardiovascular system
marfan syndrome
what is defective in marfan syndrome
fibrillin-1
what EDS type is autosomal dominant and has skin and joint hyper mobility, atrophic scars, easy bruising
class (I/II)
what EDS type is autosomal dominant and has joint hyper mobility, pain dislocations
hyper mobility (III)
what EDS type is autosomal dominant and has thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility
vascular (IV)
what EDS type is autosomal recessive and has hypotonia, joint laxity, congenital scoliosis, ocular fragility
kyphoscolliosis (V)
what EDS type is autosomal dominant and has severe joint hyper mobility, skin changes (mild), scoliosis, bruising
arthrochalasia (VIIa,b)
what EDS type is autosomal recessive and has severe skin fragility, cutis laxa, bruising
dermatosparaxis (VIIc)
what is a receptor disease that is consequence of a mutation in the gene encoding the receptor for LDL, which is involved in the transport and metabolism of cholesterol
familial hypercholesterolemia
what are GM2 gangliosidoses
group of 3 lysosomal storage diseases caused by an inability to catabolize GM2 gangliosides
what are disorders that are characterized by lysosomal accumulation of sphingomyelin due to an inherited deficiency of sphingomyelinase
niemann-pick diseases type A and B
what are a cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase
gaucher disease
what are group of closely related syndromes that result from genetically determined deficiencies of enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans)
mucopolysaccharidoses (MPS)
what is caused by an inability to metabolize GM2 gangliosides due to lack of the alpha subunit of lysosomal hexosaminidase
tay-sachs disease
