FTM Exam 2 Diseases Flashcards
Mucopolysaccharidosis
Inability to degrade glycosaminoglycans due to a lysosomal defect. There are eleven possible enzymatic defects leading to varying severities of mucopolysaccharidosis.
Sphingolipidosis
Defects in sphingolipid degradation and synthesis. Members are Tay Sachs, Niemann-Pick, Fabry, Krabbe, Gaucher, and Metachromatic leukodystrophy.
I-cell disease (Mucolipidosis II)
Defective GlcNAc Phosphotransferase, leading to an inability of the Golgi to transfer phosphate to Mannose residues, which targets various proteins to the lysosome. Instead, they are excreted to the outside of the cell.
Scurvy
Vitamin C Deficiency. Vitamin C is needed for proline and lysine hydroxylation in collagen-a reaction that is essential for collagen’s stability and strength.
Ehlers-Danlos Syndrome
Mutations in one of the many genes that alter the structure, production, or processing of collagen Types V or proteins that interact with collagen. Collagen Type III defect is severe form.
Osteogenesis Imperfecta Type I (Osteogenesis Imperfecta Tarda)
Autosomal dominant defect where collagen is normal but collagen is produced in insufficient quantities.
Osteogenesis Imperfecta Type II (Osteogenesis Imperfecta Congenita)
Autosomal Dominant defect where collagen is not of a sufficient quality OR quantity
Osteogenesis Imperfecta Type III
Autosomal dominant defect where enough collagen is made, but it is defective.
Osteogenesis Imperfecta Type IV
Autosomal dominant defect, where collagen is made, but it is not of a high quality.
Marfan Syndrome
Autosomal dominant inheritance pattern. Fibrillin-1 gene defect-Dominant negative mutation.
Hypertrophic Scar
Scar that is raised higher than normal, but within original boundary. Due to deposition of dense irregular
Keloid Scar
Scar that is in excess of the boundary of the wound, extending into the surrounding tissue.
Anaphylactic Shock
IgE binds the allergen and activates FcERI receptors on mast cells and basophils, causing degranulation of mast cells and the release of inflammatory mediators like histamine.
Cystinuria
Autosomal recessive disease, characterized by high concentration of cystine in urine. Defect in both SLC3A1 and SLC7A9 genes, which prevents reabsorption of positively charged AAs.
Tetrodotoxin Poisoning
A potent neurotoxin poison that occurs from eating tainted pufferfish and several other aquatic animals. Tetrodotoxin binds NaV channels, blocking action potential synthesis
Cholera
GI infection by vibrio cholerae, which produce cholera toxin. Cholera toxin ADP-ribosylates the Gs-alpha subunit, causing constitutive adenylate cyclase activity, leading to sodium ion and water loss. Fecal-oral transmission or from shellfish.
Snake Venom Poisoning
Bite from snake–bungarotoxin
Grave’s Disease (Toxic Diffuse Goiter)
Autoimmune disease against the thyroid. The immune system produces thyroid-stimulating Ig’s, which bind to the thyrotropin receptor, stimulating T4 and T3 oversecretion.
Hereditary spherocytosis
Autosomal dominant abnormality of erythrocytes. Results from defective spectrin, Band 3 or protein 4.1, with a subsequent loss in the biconcave structures of RBCs.
Cystic Fibrosis
Autosomal recessive inheritance pattern. CFTR Mutation. Exhibits allelic heterogeneity and variable expression. The deltaF508 mutation is the most severe and most common.
Down Syndrome
Aneuploidy: Caused by Trisomy 21 or by an unbalanced Robertsonian translocation between chromosome 14 and 21
Klinefelter’s Syndrome
XXY, due to a meiosis I non-disjunction event.
Turner’s Syndrome
A single X chromosome due to a meiosis I non-disjunction event. Father contributes no sex chromosomes.
Tay-Sachs Disease
Autosomal recessive inheritance pattern. Caused by a deficiency of hexosaminidase A. GM2 proliferates in neurons
Glycogen Storage Disease
Defect in the processing of glycogen synthesis or breakdown. There are 11 enzymatic defects that can cause this.
Hurler Syndrome (Mucopolysaccharidosis Type I)
Autosomal dominant inheritance pattern. LDL receptor or ApoB (adaptin) mutation. Haploinsufficiency.
Kartagener Syndrome (Primary Ciliary Dyskinesia)
Autosomal recessive disease. Mutation in genes that code for the ciliary protein dynein or other ciliary proteins.
Psoriasis
Acanthosis of epidermis, leading to shedding of the epidermis, leading to microabcesses and silvery plaques.
Bullous Pemphigoid
Chronic autoimmune blistering disease, from IgG antibodies against hemidesmosomes. Leukocytes infiltrate the region, and eosinophils degrade the Ab-hemidesmosome complex. Epidermis detaches from basal lamina and fluid moves in.
Black widow spider poisoning
Latrotoxin
Pemphigus Vulgaris
Chronic Autoimmune blistering disease, from antibodies against desmoglein 1 and 3 of epidermal and mucosal desmosomes. Causes stratum spinosum to separate, flatten, and blisters to form. IHC shows “fishnet” appearance.
Albinism
Autosomal recessive disease. Loss pigmentation in skin, hair, and eyes, due to mutation in tyrosinase, an enzyme that allows melanocytes to pick up tyrosine, which is needed in the production of melanin.
Vitiligo
Autoimmune destruction of melanocytes due to an immune response against the autoantigen tyrosinase.
Acne
Disease of the pilosebaceous unit, stemming from higher than normal sebum production, excessive keratin deposition, colonization of the follicle by bacteria, and release of proinflammatory cytokines in the skin.
Neurofibromatosis Type I
Autosomal dominant inheritance pattern. NF-1 mutation (allelic heterogeneity). NF-1 is a tumor suppressor.
Acetaminophen Overdose
Caused by ingestion of a high dose of acetaminophen. Generation of NAPQ1, a metabolic intermediate, in conjunction with depleted reduced glutathione stores, causes NAPQI to randomly oxidize cell protein, killing the cell.
Immunodeficiency-centromeric instability-facial anomalies (ICF) Syndrome
Autosomal recessive disease. Result of a mutation in the Dnmt3 gene, which is responsible for de novo methylation of cytosine residues.
Rett Syndrome
X-linked dominant disease. Result of a mutation in MeCP2, an adapter protein necessary for the recruitment of Dnmt1 to methylate hemimethylated DNA.
Prader-Willi Syndrome
Loss of SNRPN gene function. SNRPN is epigenetically silenced on chromosome 15 in the maternal genome. Thus, inheriting two maternal copies of chromosome 15 or a microdeletion of the paternal chromosome 15 causes PWS.
Angelman Syndrome
Loss of UBE3A gene function. UBE3A is epigenetically silenced on chromosome 15 in the paternal genome. Thus, inheriting two paternal copies of chromosome 15 or a microdeletion of the maternal chromosome 15 causes AS
Beckwith-Wiedemann Syndrome
Usually sporadic (1/13,700). Paternally imprinted. Some patients have maternal rearrangments of 11p15, some have paternal uniparental disomy or abnormal methylation.
Incontinentia Pigmenti
X-linked dominant inheritance pattern. Germline mutation or affected parent with mutated IKBKG gene.
Edwards Syndrome
Aneuploidy: Caused by trisomy 18, via nondisjunction during oogenesis.
Patau Syndrome
Aneuploidy: Caused by trisomy 13, via nondisjunction during oogenesis.
Cri-du-chat Syndrome
Deletion of all or part or the P arm of chromosome 5. Autosomal dominant (only need one missing 5p).
DiGeorge Syndrome
Caused by a microdeletion of 22q11.2. Most cases are novo, but if inherited, it’s autosomal dominant.
Wolf-Hirschorn Syndrome
Deletion of the P arm of chromosome 4.
WAGR Syndrome
Results from microdeletions on chromosome 11.
Bloom Syndrome
Caused by a defect in the BLM gene, which codes from a DNA helicase enzyme used in replication repair and recombination. Autosomal recessive disease.
Fanconi Anemia
Autosomal recessive disease. 8 gene involved, so many complementation groups and locus heterogeneity. Types A-H are related to defective DNA Repair. Type A=65% of all cases. Increased random chromosome breakage.
Xeroderma Pigmentosum
Autosomal recessive inheritance pattern. Caused by a mutation in one of 9 nucleotide excision repair enzymes, meaning no repair mechanism for UV damage.
Ataxia Telangiectasia
Defect in ATM, a Serine-threonine kinase that detects DNA double-strand breaks and activates p53. Autosomal recessive disease!
Glucose 6-Phosphate Dehydrogenase Deficiency
X-linked recessive inheritance pattern. Abnormally low levels of Glucose 6-phosphate dehydrogenase. This predisposes RBCs to oxidative damage due to no glutathione.
Malignant Hyperthermia
Defect in Ryanodine receptor gene (RYR1) causes the unregualted release of calcium ions from the sarcoplasmic reticulum when exposed to volatile inhalation anesthetics or. depolarizing skeletal muscle relaxants. Autosomal dominant.
Li-Fraumeni Syndrome
(Considered) Autosomal dominant mutation in p53. More than half of families with Li-Fraumeni have inherited p53. More than half of families with Li-Fraumeni have inherited p53 mutations. Second hit is somatic.
Familial Adenomatous Polyposis
Autosomal dominant mutation in APC gene. APC is needed for the degradation of B-catenin (a growth promoting TF) in the absence of a Wnt signal. Need somatic second hit.
Hereditary Non-Polyposis Colon Cancer (Lynch Syndrome)
Autosomal dominant mutation in APC gene. APC is needed for the degradation of B-catenin (a growth promoting TF) in the absence of a Wnt signal. Need somatic second hit.
BRCA1 Familial Breast Cancer and Ovarian Cancer
Mutation in the tumor suppressor BRCA1, a DNA repair/apoptosis gene, leading to breast/ovarian cancer. Accounts for 52% of all hereditary breast cancer.
BRCA2 Familial Breast cancer and ovarian cancer
Mutation in the tumor suppressor BRCA1, a DNA repair/apoptosis gene, leading to breast/ovarian cancer. Accounts for 52% of all hereditary breast cancer.
Sickle Cell Anemia
Autosomal recessive inheritance pattern. Caused by a mutation in Beta-globin gene. Missense mutation, E to V.
Duchenne’s Muscular Dystrophy
X-linked recessive inheritance pattern. Mutation of the dystrophin gene.
Becker’s Muscular Dystrophy
X-linked recessive inheritance pattern. Mutation of the dystrophin gene, but a milder phenotype. Appears in heterozygous women due to X inactivation and some men.
Alzheimer’s Disease
2 types: Familial and sporadic. Associated with the genes APP, Apoliproprotein E, PS1 and PS2. There is also lots of evidence for DNA fragmentation in the brain of AD patients.
HIV-1/AIDS
Infection with HIV-1 virus, leading to progressive immunodeficiency and onset of opportunistic infections and neoplasms. Loss of CD4+ T cells.
TORCH infections:
Toxoplasmosis
Other (Syphilis)
Rubella
Cytomegalovirus
Herpes Simplex Virus
T: Caused by maternal Toxoplasma Gondii infection
O: Caused by maternal Treponema Pallidum infection
R: Caused by maternal Cytomegalovirus infection.
C: Caused by maternal Cytomegalovirus infection
H: Caused by maternal Herpesvirus infection passing to the newborn during delivery.
Congenital Varicella Zoster
Maternal infection during the 1st or 2nd Trimester.
