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52 Cards in this Set
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Conditions
Kartageners Syndrome |
AUTO REC
immotile cilia - dyenin S&S Respiratory - respiratory tract - sinusitis/bronchiectsis Reproductive - gametes, fallopians - infertility/dec fertility *situs inversus |
organelle
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Conditions
Cheidak-Higashi |
AUTO REC
mutation lysosomal trafficing regulator gene (LYST) microtubule sorting of endosomal proteins -> late multivesicular endosomes S&S Immune System - recurrent pyogenic infections - DEC phagocytosis Integumentary System - partial albinism Nervous System - peripheral neuropathy |
gen-biochm
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Conditions
Severe Comrpomised Immunodeficiency Disease (SCID) |
MULTIPLE CAUSES
AUTO REC adenosine deaminase def -> ATP dATP INC -> INH ribonucleotide reductase -> prevents DNA synth -> DEC lymphocyte count S&S Immune System - adaptive immune compromised |
biochm
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Conditions
I-Cell Disease |
AUTO REC
GNPTAB gene -> GLCNAc-1-phosphotrasferase defficiency -> @ GOLGI lysosomal enzyme mislabelling -> accumulation of glycoproteins and glygolipids S&S Inclusion Bodies! Integumentary System - coarse facial features Optical System - clouded corneas Skeletal System - restricted joint movement Metabolism - INC lysosomal enzyems |
gen-biochm
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Conditions
Cystic Fibrosis |
AUTO REC
Chr7 -> CFTR @ ER mishandling -> defective mucociliary transport S&S Respiratory System - Repeated Lung Infections Endocrine System - Pancreatic Insufficiency Reproductive System - Males: infertility |
genetic - organelle
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Conditions
Lesch-Nyhan |
X LINK REC
HGPR Tase absent -> elevated PRPP ->INC purine biosynth -> purine degradation –> overproduction of urate S&S Nervous System - Self Mutiliation Metabolic - High uric acid/Gout/Kidney Stones |
gen-biochm
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Conditions
Marfans Syndrome |
AUTO DOM
Fibrilin 1 gene - defect fibrillin S&S Skeletalmuscular System - arachnodactyly, pectus excavatum, tall with long extremities, hypermobile joints Cardiovascular system - mitral valve dysfunction, medial necrosis of aorta Optic System - subluxation of lens, cataracts |
organelle
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Conditions
Fragile X Syndrome |
X LINK DOM
CGG trinucleotide repeat -> FMR1 gene methylation -> absence of FMRP -> overtranslation in dendrites S&S long face, large everted ears Nervous System - autism Reproductive System - macroorchidism Cardiovascular System - mitral valve prolapse |
gen-tri
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Conditions
Scurvy |
diet
Vitamin C -> collagen disruption -> fibroblast DEC S&S Hemorrhagic signs Hyperkeratosis/phrynoderma Hyperchondriasis |
diet
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Conditoins
Emphysema/COPD |
alpha anti trypsin deficiency
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Conditions
Osteogenesis Imperfecte |
brittle bone disease
mutliple fracturs with minimal trauma blue sclera hearing loss dental imperfections |
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Conditions
Ehlers-Danlos |
Integumentary System
hyperflexible skin tendency to bleed |
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Conditions
Narcolepsy |
asdf
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Condition
Sleep Terror Disorder |
asdf
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Conditions
Hypophsophatemic Rickets |
asdf
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Conditions
Mitochondrial Myopathies |
asdf
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Conditions
Achondroplasia |
AUTO DOM
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Conditions
Autosomal-dominant Polycystic Kidney Disease (ADPKD) |
AUTO DOM
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Conditions
Familiar Adenomatous Polyposis |
AUTO DOM
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Conditions
Famial Hypercholesterokemia |
AUTO DOM
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Conditions
Hereditary Hemorrhagic Telangiectasia Osler-Weber-Rendu syndrome |
AUTO DOM
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Conditons
Huntingtons Disease |
AUTO DOM
CAG |
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Conditions
Prader-Willi Syndrome |
asdf
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Conditions
Angelman's Syndrome |
asdf
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Conditions
Multiple Endocrine Neoplasias (MEN) |
asdf
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Conditions
Neurofibromatosis type 1 von Recklinghahusen's Disease |
asdf
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Conditions
Neurofibromatosis type 2 |
asdf
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Conditions
Tuberous Sclerosis |
asdf
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Conditions
von Hippel-Lindau Disease |
asdf
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Conditions
G6P Dehydrogenase Deficiency |
X LINK REC
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Conditions
Albinism |
AUTO REC
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Conditions
Autosomal-recessive Polycystic Kidney Disease (ARPKD) Infantile polycysic kidney disease/ |
AUTO REC
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Conditions
Glycogen Storage Diseases |
AUTO REC
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Conditions
Hemochromatosis |
AUTO REC
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Conditions
Mucopolysaccharidoses |
AUTO REC
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Conditions
Phenylketonuria |
AUTO REC
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Conditions
Sickle Cell Anemia |
AUTO REC
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Conditions
Sphingolipidoses |
AUTO REC
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Conditions
Thalassemias |
AUTO REC
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Conditions
Burton's Agammaglobulinemia |
X LINK REC
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Conditions
Wiskott-Aldrich Syndrome |
X LINK REC
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Conditions
Fabrys Disease |
X LINk REC
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Conditions
Ocular Albinism |
X LINK REC
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Conditions
Duchenne Muscular Dystrophy |
X LINK REC
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Conditions
Beckers Muscular Dystrophy |
X LINK REC
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Conditions
Hunters Syndrome |
X LINK REC
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Conditions
Hemophilia A |
X LINK REC
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Conditions
Hemophilia B |
X LINK REC
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Conditions
Ornithine Transcarbamoylase Deficiency |
X LINK REC
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Conditions
Friedrich's Ataxia |
GAA
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Conditions
Myotonic Dystrophy |
CTG
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Conditions
Bronchiectasis~ |
refers to an irreversible airway dilation that involves the lung in either a focal or a diffuse manner and that classically has been categorized as cylindrical or tubular (the most common form), varicose, or cystic. (1)
irreversible airway dilation |
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