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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
|