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57 Cards in this Set

  • Front
  • Back
Achondroplasia
4
AD
fibroblast growth factor 3 FGF3
short limbs, normal head
advanced paternal age
APKD- adult
6
AD
always bilateral
many, large cysts
flank pain, hematuria,
APKD1 gene
berry aneurysms, mitral valve prolapse, liver disease
FAP
4
AD
100% chance of colon ca
APC gene- ch 5
after puberty
Familial hypercholesterolemia
6
AD
elevated LDL
variable expression with genotype
ch 19
tendon xanthomas
MI before age 20
hereditary hemorrhagic telangiectasia
3
AD
disorder of BVs
telangiectasia, epistaxis, skin discolorations, AVmalformations
Hereditary spherocytosis
5
AD
spheriod erythrocytes
ankyrin defect, hemolytic anemia
inc MCHC
splenectomy is curative
huntingtons disease
5
AD
depression, choreiform movements, dimentia
caudate atrophy
CAG repeats
anticipation
marfans
4
AD
fibrillin gene
tall, pectus excavatum
aortic dissection, floppy mitral valve, berry a
MEN
2
AD, several syndromes
tumors of endocrine glands
ret gene
NF1
4
AD
cafe au lait spots, lisch nodules, neural tumors
ch 17
(aka von Recklinghausen's)
NF 2
5
AD
bilateral acoustic neuroma
ch 22
no lisch nodules or CNS tumors
merlin protein mutation
tuberous sclerosis
8
AD
facial lesions
ash leaf spots- hypopigmentation
cortical and retinal hamartomas
seizures, MR
renal cysts, renal angiomyolipomas
increased astrocytomas
incomplete penetrance and variable expression
von hippel lindau
4
AD
hemangioblastomas of retina/cerebellum/medulla
bilateral renal call carcinomas
VHL genes- ch 3
ARPKD- infants
AR
CF
9
AR
CFTR gene, deletion of delta 508, ch 7
most common lethal disease in whites
CFTR cannot make it out of the golgi (not folded correctly)
pesudomonas
bronchitis, pancreatic insufficiency
bilateral absence of the vas deferens
give N-acetylcysteine
variable expression
hemochromatosis
1
AR
mucopolysacchridoses (except hunter's)
1
AR
PKU
3
AR
decrease in phenylalanine hydroxylase
MR, growth retardation, eczma, mousy odor
sickle cell
1
AR
sphingolipidoses (except fabry's)
1
AR
thalassemia
1
AR
Bruton's agammaglobulinemia
1
X linked
Wiskott-Aldrich
6
X linked
W
A
I- immunodificiency
T- thrombocytopenia and purpura
E- eczema
R- recurrent pyogenic infections
decreased IgM inc IgA
fragile X
5
X linked
FMR1 gene
CGG repeats
2nd mc genetic cause of MR
macro-orchidism, long face with large jaw, inverted ears, autism
duchenne MD
5
Beckers MD
2
X linked
deletion of dystrophin gene-->muscle breakdown
pseudohypertrophy of calf m. (fibrofatty)
Gower's sign
onset before 5 yrs
Beckers less severe, dystrophin gene mutation
G6PD deficiency
X linked
ocular albinism
1
X linked
Lesch Nyhan syndrome
4
X linked
HGPRT deficiency
increased uric acid
tx- allopurinol
hemophilia
1
X linked
Fabry's disease
X linked
Hunter's disease
X linked
trinucleotide repeat diseases
4
huntingtons CAG
myotonic dystrophy CTG
fragile X- CGG
fredreich's ataxia- GAA
Trisomy 21
8
meiotic nondisjunction
leading cause of genetic MR
flat facies, epicanthal folds, simian crease
congenital heart disease- ASD
ALL increased
Alzheimer's > age 35
advanced maternal age
dec AFP; inc BhCG; inc inhibin A; dec estriol
Trisomy 18
Edward's <3
3
rocker bottom feet, micrognathia, low ears, clenched hands
death w/in 1 yr
Trisomy 13
Patau's
2
cleft palate/lip, holoprosencephaly, polydactyly
death within 1 yr
Prader willi
2
deletion of Paternal allele, maternal imprinted
MR, hyperphagia, obesity, hypogonadism, hypotonia
Angelman's syndrome
2
maternal deletion, paternal imprinted
MR, seizures, ataxia, inappropriate laughter- happy puppet
Cri-du-Chat
2
congenitalmicrodeletion of ch 5
microcephaly, MR, high pitched crying/mewing, epicanthal folds, cardiac abnormalities
22q11 deletions
CATCH-22
CATCH 22
cleft palate
abnormal facies
thymic aplasia, T cell deficiency
Cardiac defects
hypocalcemia secondary to parathyroid aplasia
Alkaptonuria
4
AR
homogentistic acid oxidase
tyrosine-->fumarate
urine- black, ear lobes black
Fabry's disease
inheritance, deficient enzyme, accumulated substrate, findings
X linked
periph neuropathy, angiokeratomas, renal and CV disease
def- a-galactosidase A
acc- ceramide trihexoside
Niemann-Pick disease
inheritance, deficient enzyme, accumulated substrate, findings
AR
cherry red spot
def- sphingomyelinase
acc- sphingomyelin
Tay-Sachs disease
inheritance, deficient enzyme, accumulated substrate, findings
AR
def- hexosaminidase A
acc- GM2 gangliosidase
cherry red spot, lysosomes with onion skin, neurodegeneration
Krabbes disease
inheritance, deficient enzyme, accumulated substrate, findings
AR
def- galactocerebrosidase
acc- galactocereboside
metachromatic leukodystrophy
inheritance, deficient enzyme, accumulated substrate, findings
AR
def- arylsulfatase A
acc- cerebrosid sulfate
demyelination of axons, ataxia
Gaucher's disease
inheritance, deficient enzyme, accumulated substrate, findings
AR
most common
def- B-glucocerebrosidase
acc- glucocerebroside
hepatosplenomegaly, aseptic necrosis of femur
gouchers cells- crinkled tissue paper
hurler's syndrome/Scheie's
inheritance, deficient enzyme, accumulated substrate, findings
AR
def- a-L-iduronidase
acc- heparan sulfate, dermatan sulfate
hunters syndrome
inheritance, deficient enzyme, accumulated substrate, findings
X linked
mild hurler's + aggressive behavior
def- iduronate sulfatase
acc- heparan sulfate, dermatan sulfate
cherry red spot
3
niemann pick
tay sachs
central retinal artery occlusion
ashkenazi jews
3
Tay sachs
NP
gouchers
+ MR
+ cloudy cornea
Hurler's syndrome
+ MR
- cloudy cornea
Hunter's syndrome
- MR
+ cloudy cornea
Scheie's
+/- MR
+ cloudy cornea
I-cell
I cell disease
deficiency in mannose phosphorylation no (M-6-phosphate)
death by 8 yo
secretion extracellular instead of lysosome
lysosomal storage disease death by 3 yrs
3
Tay Sachs
NP
Krabbes
lysosomal storage demyelinating disease
metachromatic leukodystrophy