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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
|