Conditions Q1 Flashcards
Rare genetic disease of the intestine that causes severe diarrhea and an inability to absorb nutrients
Microvillus inlusion disorder
Disorder of the small intestine involving the loss of the microvilli brush border
Celiac disease
Dysfunction of the primary cilia that is usually diagnosed in adulthood
Autosomal dominant polycystic kidney disease (ADPKD)
Dysfunction of the primary cilia that can be diagnosed in the womb or shortly after birth
Autosomal recessive polycystic kidney disease (ARPKD)
Primary cilia dyskinesia involving the absence of dynein arms, leading to failure of the mucociliary transport in the respiratory tract
Kartagener’s syndrome
Primary cilia dyskinesia involving the malformation of radial spokes and dynein arms, affecting ciliary function in the respiratory tract
Young’s Syndrome
Groups of disorders characterized by immotile cilia.
Most prominent symptoms are chronic respiratory distress, inflammation of middle ear cavity, persistent cough, asthma
Primary cilia dyskinesia
Bacteria that target’s ZO-1 in occluding junctions, disrupting signaling and increasing permeability of the cell junction
Helicobacter Pylori
Abnormal desmosome function caused by autoimmune reactions against specific desmogleins that reduce cell to cell adhesion
Blistering diease
Congentic deafness due to mutations in this gene which affects the gap junctions in the middle ear
connexin-26
Cataracts due to mutations in these two genes, affecting communicating junctions
connexin-46 and -50
Condition involving reduced Vitamin C for lysysl hydroxylase, leading to weak collagen chains
Scurvy
Disease involving reduced copper, which is used as a cofactor for lysyl oxidase, preventing collagen fibril formation
Menkes disease
Condition involving the degradation of cartilage collagen
Rheumatoid arthritis
Condition involving the degradation of bone cartilage
Osteoporosis
