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52 Cards in this Set

  • Front
  • Back
acute intermittent porphyria
AD
defecient uroporphyrinogen synthase
hereditary angioedema
AD
defecient C1 esterase inhibitor
vWD
AD
familial hypercholesterolemia
AD
Achilles tendon xanthoma
APKD
AD
100% penetrance
hypertrophic cardiomyopathy
AD
MCC sudden death in young people
HD
AD
neurofibromatosis
AD
NF-1 on chr 17
NF-2 on chr 22
greatest overall mutation rate in gametes
congenital spherocytosis
AD
defect in spectrin
familal polyposis
AD
100% penetrance
OI
AD
defect Type I collagen
Marfan
AD- chr 15
defect fibrillin- missense mutation
non-classical 21-OH def
AR
hemochromatosis
AR
SS
AR
CF
AR
A1A def
AR
PKU
AR
galactosemia
AR
positive urine Clinitest
homocystinuria
AR
inc homocystein and methionine
positive nitroprusside reax
alcaptonuria
AR
absent homogentisate oxidase
hereditary tyrosinemia
AR
deficient fumarylacetoacetate hydrolase
SXR lysosomal storage diseases (2)
Fabry's
Hunter's
I cell dis
can't phosphorylate mannose resiudes of lysosomal enzymes in Golgi -> empty lysosomes accumulate substrates
chondroitin sulfate- cartilage
heparan sulfate- GBM
heparin
keratan sulfate
hyaluronic acid- sunovial fluid
dermatan sulfate
GAG
--> mucopolysaccharidoses
Hurlers
Hunters
Hurler's
AR
def alpha-1 iduronidase
Hunter's
SXR
def L-iduronsulfate sulfatase
milder than Hurlers
sphingomyelin --> sphingosine -> ceramides
cerebrosides
gangliosides
sphingolipids
Tay Sachs
AR
def hexosaminidase alpha
accumulate GM2 ganglioside
EM with lamellar bodies
Neimann Pick
AR
def sphingomyelinase
EM with zebras
Gaucher's
AR
def glucocerebrosidease
massive hepatosplenomegaly
metachromatic leukodystrophy
AR
def arylsulfatase A
accumulate sulfatide
get abnormal myelin
Krabbe disease
AR
def galactosylceramidase
get galactocerebroside and abnormal myelin
Fabry's
SXR
def alpha galactocerebrosidase A
acumulate ceramide trihexosidase
von Gierkes
AR
def glucose-6-phosphatase
fasting hypoglycemia
Pompe's
AR
def alpha-1,4-glucosidase
also in LYSOSOMES
restrictive cardiomyopathy
McARdles
AR
def mucle phosphorylase
exercise fatigue
no lactic acid after exercise
fragile X
SXR
triple CGG
anticipation
Lesch Nyhan
SXR
deficient HGPRT --> no inhibition of PRPP in purine metabolism
G6PD
SXR
DMD
SXR
hemophila A/
SXR
SCID
SXR
wiskott-aldrich
SXR
testicular feminization
SXR
color blindness
SXR
chronic granulomatous disease of childhood
SXR
bruton's agammaglobulinemia
SXR
Reifenstein syndrome
SXR
end organ refractoriness to effect of testosterone and DHT even though receptors are present
familial hypophosphatemia
SXD
Vit D resistant rickets
Alport's
SXD
hereditary glomarulonephritis assoc with nerve deafness
inc in LDS members
leber's hereditary optic neuropathy
mitochondrial