Pathology: genetics
Terms
undefined, object
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- 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