Shared Flashcard Set

Details

7 Genetic Diseases
Patterns of Inheritance
68
Pathology
Graduate
05/16/2012
Click here to study/print these flashcards.

Create your own flash cards! Sign up here.

Additional Pathology Flashcards

 

 

Cards

Term
Achondroplasia
 Definition
Autosomal Dominant
Term
PKD - Polycystic Kidney Diseases
 Definition
AD - Adult
AR - Infantile
Term
Familial Adenomatous Polyposis
 Definition
Autosomal Dominant
Term
Familial Hypercholesterolemia (hyperlipidemia type IIA)
 Definition
Autosomal Dominant
Term
Hereditary hemorrhagic telangeictasia (Osler Weber Rendu syndrome)
 Definition
Autosomal Dominant
Term
Hereditary Spherocytosis
 Definition
Autosomal Dominant
Term
Huntington's Disease
 Definition
Autosomal Dominant
Tri-nucleotide repeat disorder (CAG)
Term
Marfan Syndrome
 Definition
Autosomal Dominant
Term
Multiple Endocrine Neoplasias (1, 2A, 2B)
 Definition
Autosomal Dominant
Term
Neurofibromatosis 1
 Definition
Autosomal Dominant
Term
Neurofibromatosis 2
 Definition
Autosomal Dominant
Term
Tuberous sclerosis
 Definition
Autosomal Dominant
Term
von Hippel-Lindau disease
 Definition
Autosomal Dominant
Term
Albinism
(3 versions)
 Definition
In General: Variable Inhertance
Autosomal Recessive (if Tyrosinase def)
X Linked Recessive (if ocular albinism)
Term
Cystic fibrosis
 Definition
Autosomal Recessive
Term
Glycogen storage diseases
 Definition
Autosomal Recessive
Term
Hemochromatosis
 Definition
Autosomal Recessive
Term
Mucopolysaccharidoses (except Hunter's)
 Definition
Autosomal Recessive
Term
Phenylketonuria
 Definition
Autosomal Recessive
Enzyme: Phe hydroxylase OR
THB deficiency
Term
Sickle cell disease
 Definition
Autosomal Recessive
Term
Sphingolipidoses (except Fabry's)
 Definition
Autosomal Recessive
Term
Thalassemia
 Definition
Autosomal Recessive
Term
Bruton's Agammaglobulinemia
 Definition
X Linked Recessive
Term
Wiskott-Aldrich Syndrome
 Definition
X Linked Recessive
Term
Fabry's disease
 Definition
X Linked Recessive
Term
G6PD Deficiency
 Definition
X Linked Recessive
Term
Ocular albinism
 Definition
X Linked Recessive
Term
Lesch-Nyhan Syndrome
 Definition
X Linked Recessive
Missing Enzyme: HGPRTase
Term
Duchenne's (and Becker's) muscular dystrophy
 Definition
X Linked Recessive
Term
Hunter syndrome
 Definition
X Linked Recessive
Term
Hemophilia A
 Definition
X Linked Recessive
Term
Hemophilia B
 Definition
X Linked Recessive
Term
Fragile X Syndrome
 Definition
Tri-nucleotide repeat disorder (CGG)
Term
Friedreich's ataxia
 Definition
Tri-nucleotide repeat disorder (GAA)
Term
Myotonic Dystrophy
 Definition
Tri-nucleotide repeat disorders (CTG)
Term
HLA A3
 Definition
Hemochromatosis
Term
HLA B27
 Definition
PAIR
Psoriatic (arthritis)
Ankylosing Spondylitis
IBD
Reiter's Syndrome
Term
HLA B8
 Definition
Graves' Disease
Term
HLA DR2
 Definition
MS, hay fever, SLE, Goodpasture's
Term
HLA DR3, DR4
 Definition
DM 1
Term
HLA DR5
 Definition
Pernicious anemia --> B12 deficiency, Hashimoto's thyroiditis
Term
HLA DR7
 Definition
Steroid responsive nephrotic syndrome
Term
Chronic Granulomatous Disease
 Definition
X linked Recessive
Term
"WBC"
 Definition
X linked recessives are:
- Wiskott Aldrich
- Bruton's agammaglobulinemia
- Chronic granulomatous disease
Term
Kartagener's syndrome
 Definition
Autosomal Recessive
Term
Ataxia telangeictasia
 Definition
Autosomal Recessive
Term
Alkaptonuria
 Definition
Autosomal Recessive
Missing Enzyme: homogentisic acid oxidase
Term
Essential fructosuria
 Definition
Autosomal Recessive
Missing Enzyme: fructokinase
Term
Fructose intolerance:
 Definition
Autosomal Recessive
Missing Enzyme: Aldolase B
Term
Galactokinase deficiency
 Definition
Autosomal Recessive
Missing Enzyme: Galactokinase
Term
Classic galactosemia
 Definition
Autosomal Recessive
Missing Enzyme: galactose-1-phosphate uridyltransferase (GALT)
Term
Wilson's Disease
 Definition
Autosomal Recessive
Term
Hemochromatosis
 Definition
Autosomal Recessive
Term
Ornithine Transcarbamoylase (OTC) deficiency
 Definition
X Linked Recessive
Term
Homocystinuria
(All 3 forms are...)
 Definition
Autosomal Recessive
Term
Cystinuria
 Definition
Autosomal Recessive
Missing: tubular amino acid transporter
Term
Maple Syrup urine disease
 Definition
Autosomal Recessive
Missing Enzyme: branched chain aa degradation
Term
Hartnup disease
 Definition
Autosomal Recessive
Missing Enzyme: neutral (aromatic) aa transpoter
Term
Orotic Aciduria
 Definition
Autosomal recessive
Can't covert Orotic acid --> UMP
def in: phosphoribosyltransferase; orotidine 5' phosphate decarboxylase
Term
von Willebrand Disease
 Definition
Autosomal Dominant
Term
Peutz-Jeghers syndrome
 Definition
Autosomal Dominant
Term
Familial Adenomatous Polyposis (FAP))
 Definition
Autosomal Dominant
Term
HNPCC/Lynch Syndrome
 Definition
Autosomal Dominant
Term
Xeroderma pigmentosum
 Definition
Autosomal Recessive
Term
The BRCA 1/2 mutations
 Definition
Autosomal Dominant
Term
Li-Fraumeni p53 mutation
 Definition
Autosomal Dominant
Term
5 alpha reductase deficiency
 Definition
Autosomal Recessive
Term
Alport Syndrome
 Definition
X Linked Recessive
Supporting users have an ad free experience!