Class Name of Disease Information on Disease

Minimata Binding of mercury to sulfhydryl groups in proteins

Jacob-Creuzfeld Disease Prions cause change in protein structure from alpha helic to insoluble beta pleat resulting in eventually lethal intraceullar accumulation
, Lipofuscin Polymers of phospholipids and lipids complexed with proteins derived from peroxidation of membrane lipids
Hemosiderin Aggregates of ferrtin molecules
Hemosiderosis systemic iron overload; accumulation in liver, spleen, lymph nodes and bone marrow macrophages; accumulation in parenchymal cells of liver, pancreas, heart and other organs possible
Graves Disease Diffuse hyperplasia
Enlargement of thyroid gland. Has
of the thyroid,Impaired soft, meaty
synthesis cut and
of thyroid has tall
hormone folicular epithileal
- compensatory rise cells
in theforming papillae
serum TSH that
level; enroach onand
hypertrophy colloid
hyperplasia of thyroid follicular cells to ensue a euthyroid metabolic state
, Goiter
Coagulative Necrosis typical in cell death resulting from ischemia/hypoxia (parenchymal infarction)
Liquefactive Necrosis typical of CNS infarctions and bacterial infections
Caseous Necrosis Cheesy macroscopic appearance of necrotic tissues; most often associated with Mycobacterium tuberculosis
Fat Necrosis Liquefactive necrosis of adipose tissue adjacent to injured exocrine glands; seen in acute pancreatitis
Gangrene Infarction of extremities 1.Dry gangrene: sterile, predominantly coagulative necrosis 2.Wet gangrene: Secondarily infection, with liquefactive necrosis
Leukocyte adhesion deficiencdefective leukocyte integrins
Leukocyte adhesion deficiencabsence of sialylated glycoprotein on leukocytes for E-selectin
Chediak-Higashi syndrome A.R. impaired fusion of lysosomes and phagosomes, impaired secretion of lytic granules by cytotoxic T cells
Adenoma tumor with glandular pattern
Papilloma tumor with finger-like or warty surface projections
Cystadenomas tumors
has that form
a t(8;14) a large cystic
translocation, masses
treated with cyclophosphamide. Consits of differentation-impaired B lymphocytes and is also linked to EBV and is related to nasopharyngeal cancer. The mutation in Burkitt’s lymphoma puts Myc downstream of the Ig enhancer – this overexpresses Myc and creates a hypermorph.
, Burkitt's Lymphoma
, EBV intergferes with epithelial celss of orophanyx and b lymphocytes via the CD21 receptor and exits as a circular episomal elemene in the nucleus and imotalizes the b cell it infects with LMP1 and EBNA
HBV Integrates into host DNA, and makes viral proteins, HBx, which exert multiple effects on signalling, transcription, apoptosis/cell cell progression, viral replication
HCV multiple viral proteins that have a oncogenetic effect
HTLV1 Retrovirus that integrates in T cells via slow transfoming virus; it oes not have a v-onc
Trisomy 21 Has an extra copy of chromosome 21, characterisitc facial features, severe mental retardation, 40% with congential heart deisease propensity to leukima; alzheimers disease
Patau Syndrome Trisome 13. Cleft lip and palate, rocker bottom feet and postaxial polydactyly, severe mental retardation - most die by 1st month
Edwards Syndrime Trisomy 18. characterisitc fist clench, rocker bottom feet, prominent low set ears, secere mental retardation
, DiGeorge Syndrome Microdeletion of Chromsome 22, causes hypocalcemis and T-cell immmunodifcency
Velocardiofacial Syndrome Cardiac defects, mild immunodefiency, dysmorphologies
Cri-Du-Chat Syndrome Absence of short arm of one memeber of the chromosome 5 homologs
Klinefelter Syndrome 47 XXY, male hypogonadisim. Elongated body, lack of male charactersitcs, reduced spermatogensis and male fertility. Breast Cancer, Extragonadal testicular tumors. Maternal non-disjunction
Turner Syndrome 57% entire X is missing, 14% structral abnormailty or 29% mosiac 45/46XX
Phenylketonuroia Point Mutations results in deficeiney in phenylalanine hydrolase. Mental retardation ,seziures, decreased skin pigmentation. Treated by restriction of phenylalanine
, Galactosemia Point mutations that rsults in mutation in galactose 1 phosphate uridyl transferase (GALT) converts galactose to glucose; deficeny can lead to steatosis and eventual cirroshis. Can lead to jaundice, cataracts, nerbe damage, diarrhea sepis. Restriction of dietary galactose
Tay-Sachs Disease
Cystic Fibrosis
Hunington Disease Gain of function, abnormal protein, toxic to neurons
Marfan Syndrome Atherosclerosis with increased risk of myocardial infarction.
Familial Hypercholesterole . Autosomal Dominant.
Sickle Cell Anemia Hbs due to Glu to Val substitution at codon 6 of beta globulin.
Fragile X linked Syndrome works in lysosomes of nerve cells to degrade the unwanted ganglioside GM2, a component of the nerve cell membrane.
Sphingolipidosis The foot typically points downwards and is twisted inwards. The condition starts in the first trimester of pregnancy, the deformity is quite established at birth, and often is very rigid. Clubfoot may be etiologically and/or genetically heterogeneous resulting in its complex inheritance pattern.
Club Foot
Hemophila A Factor IX deficency. X-linked disorder caused by mutations in coagulation factor IX. Far less frequent than hemophilia A. Clinical presentation and consequences are identical to hemophilia A
Hemophila B Mental retardation, hypotonia, small hands, small feet, short stature, hypogonadism
Prader-Willi Syndrome Deletion from chromosome 15 of maternal origin Mental retardation Ataxic gait, seizures, inappropriate laughter “Happy puppet” syndrome
Angelman Syndrome
Retinoblastoma
Breast Cancer Ten fold increase in sister-chromatid exchange, An increase in mitotic recombination , Increased susceptibility to cancer
Bloom Syndrome Mutations in mismatch repair genes not transforming, per se, but result in both inactivating and activating mutations in other “cancer genes”
DNA mismatch repair synd
Xeroderma Pigmentosum Mobilization
Mendelian recessive
of free fattygenetic
acids anddisorder. Excison
amino acids fromrepair defects,
adipose autosomal
tissue and recessive,
muscle for oxidativemultiple complemtntation
metabolism.Total groups.
body wasting and emaciation due to decreased protein synthesis and basal metabolic rate; increased consumption of adipose tissue and muscle.
Marasmus
Kwashiorkor
Vitamin A Deficiency State Skin
Caused by malnutrition
desquamation, and fatHeadache,
alopecia. malabsorbtion Night blindness
hyperexcitability, (nyctalopia).
nausea, Xerophthalmia,
vomiting, Bitot's intracranial
diarrhea. Increased spots, keratomalacia and bulging
pressure with blindness. Follicular hyperkeratosis.
of fontanelles Frequent
in children. Mental infectioninofchronic
disturbances respiratory and urinary
intoxication. tracts secondary
Increased to impaired
risk of congenital immune response.
malformations Squamous
in the embryo; neuralmetaplasia of mucosa Possible increased predispositions to some cancers. Impaired embryonic development Immune dysfunctions
crest defects.
Hypervitaminosis A Cerebral beriberi: Wernicke-Korsakoff Syndrome: (Wernicke Encephalopathy and Korsakoff psychosis). Progressive dementia, ataxia of gait and ophthalmoplegia. Morphologically, it is characterized by ganglion cell degeneration, focal demyelination, and punctate hemorrhages in the nuclei surrounding the third and fourth ventricles and aqueduct.
Beriberi (Thiamine DeficienVarious abnormalities, including corneal vascularization, cheilosis, stomatitis, glossitis and dermatitis.
Vitamin B2 (Riboflavin) defi
Pellagra (Vitamin B3 Defici Deficiency
: (1) low-tryptophan diets,
can interfere (2),niacin
with Hartnup diseaseindirectly
synthesis, (non-absorption
resultingofin tryptophan,
pellagra (3), carcinoid syndrome (tryptophan converted to serotonin), and (4), isoniazid therapy (interferes with niacin synthesis). Pellagra: the Classical triad: Dermatitis, Diarrhea and Dementia (the three D's). Dermatitis: Cutaneous lesions: Bilateral and symmetrical lesions are seen particularly in areas exposed to sunlight.
Vitamin B6 Deficeny Combined system disease (megaloblastic anemia and posterolateral spinal tract degeneration); absorption decreases in old age Factors contributing to deficiency: Gastric atrophy (pernicious anemia) Terminal ileal disease Strict vegetarianism Acid-reducing drugs
Vitamin B12 Deficeny
Scurvy Caused by malnutrition and lack of sunlight. Rickets in children; failure of osteoid mineralization, results in skeletal deformities. Osteomalacia in adults: failure of mineralization of remodeled bone. Subclinical deficiency: presents as hypocalcemia, with bone and muscle pain, increasingly seen in aging populations with indoor sedentary life-styles.
Vitamin D Deficiency State megaloblastic anemia; found in alcoholics; increased incidence in fetal anencephaly
Folic Acid Deficiency spinocerebellar degeneration; occurs with fat malabsorbtion or genetic abnormalities
Vitmain E Deficiency bleeding diathesis with hypoprothrombinemia; can occur with liver disease, deranged fat metabolism, antibiotic use
Vitamin K Deficency
Type II Diabetes Insulin resitance,
Associated high levels
with various of circulating
personality free fattydisorders,
and psychotic acids have been implicated
including depression, obsessive-compulsive disorder (OCD), bipolar disorder, anxiety and substance abuse; various etiogenic theories
Anorexia Nervosa
Bulima Nervosa Binge eating; Associated with various personality and psychotic disorders, including depression, obsessive-compulsive disorder (OCD), bipolar disorder, anxiety and substance abuse; various etiogenic theories Compensatory behavior to avoid weight gain: vomiting laxatives, enemas, fasting, diuretics, obsessive exercise
Exogenous Estrogens twofold risk of endometrial carcinoma, breast carcinoma, increaed risk with high dose, venous thrombosis; especially with synthetic estrogens, vaginal adenosis and clear cell adenocarcinoma gall bladder disease
Acute Alcholisim Leads to unopposed excitatroy pathways due to inhibition of GABA receptors. liver is steatosis
Chronic Alcholism Acute hepatitis,
Induction steatosis,
of euphoria with cirrohsis, wernickes
constant craving and Korsakoff's
Respiratory Syndrome
suppression with cereberlal
Cardiovascular: degeneration
hypertension, due to thiamin
arrhythmias, deficiences
myocardial infarcts
Crack Cocaine Granulomas at injection and other sites Venous infections, bacterial endocarditis with septic emboli, varied other infections Pulmonary talcosis Renal amyloidosis; glomerulosclerosis
Opoids
Lead Microcytic hypochromic anemia, brain edema and demylination adn inflammation of th GI tract, tubulointersitial nephritis; lead protein cmplexes in tubular cells. Saturine gout
Radiation Injury Most senestive
Produces to lymphoid
dysfunction hematopoetic,
of affected organ spermatogonia, ovarian follicles, sensetive are gastrointestinal mucosa, hair follicles; lung. Medium sensitivity in Gastorinitesial epithileum and epithelis of breast pancrease dn urinary bladder brain and least sensitve woud be mature bone and cartialge nerves and muscles . Vascularization of tissues, the more oxygen present the more vulnerable the tissue, cell division and dna repair
Systemic Lupus Erythemat Class I: Minimal mesangial lupus nephritis Class II: Mesangial proliferative lupus nephritis Class III: Focal lupus nephritis, < 50% of glomeruli (crescent) Class IV: Diffuse lupus nephritis, > 50% of glomeruli (wire loop) Class V: Membranous lupus nephritis --> Nephrotic syndrome (thickening of capillary wall) Class VI: Advanced sclerosing lupus nephritis, > 90% sclerotic glomeruli (end stage renal disease).
Lupus Nephritis face and scalp, edema, erythema, scaling, and skin atrophy.
Chronic Discoid Lupus Ery Characterized by dry eyes and dry moth resulting from immunologically mediated destruction of lacrimal and salivary galnds. SS -A and ss-B detected 90% of time. Can be isolated disorder or with Rheumathoid Arthitiris. Destruction by lymphoplasmacytic infiltrate (CD4+ helper T cells & B cells), often with germinal centers, and fibrosis. High risk for B-cell lymphoma. Resultant drying of membranes leads to ulceration (of cornea and buccal cavity) with burning & itching, and often secondary infection, dry mouth with fissures, sometimes even nasal septum perforation. Extra glandular disease: in 1/3 of patients synovitis, bronchitis or pneumonia or pulmonary fibrosis, and peripheral neuropathy.
, Sjogren Syndrome by excessive fibrosis in multiple tissues, obliterative vascular disease, and evidence of autoimmunity, mainly the production of multiple autoantibodies. Cutaneous involvment is usual presenting manifestation. Diffuse systemic sclerosis, characterized by initial widespread skin involvement, with rapid progression and early visceral involvement. Limited systemic sclerosis, with relatively mild skin involvement, often confined to the fingers and face.This presentation also is called CREST syndrome because of its frequent features of Calcinosis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia. Autoimmune responses (CD4+ T cells) cytokines  stimulate collagen synthesis. Vascular damage, endothelial injury, perivascular fibrosis  narrowing. Fibrosis -Collagen deposition due to activated fibroblasts and scarring following ischemic damage to tissues caused by vascular lesions. Associated with Anti DNA topoisomerase 1 and anticentrometer antibody
Systemic Sclerosis
Mixed Connective Tissue DClinical- features
Autoimmune overlap those of SLE, systemic sclerosis and polymytosis. High titers of antibodies to U1 ribonucleoprotien. Finger synovitis, raynaud phenome and myositis. Serious complications: pulmonary hypertension, ILD, renal disease
pancreatitis
IgG4-Related Disease AL type- and
Inflammatory
is usually pseudotumor.
systemic in distribution (heart, GIT, respiratory tract, peripheral nerves, skin, and tongue). Is the most common form of amyloidosis. It is caused by a clonal proliferation of plasma cells ​that synthesize abnormal Ig molecules. A condition associated with a number of inherited and inflammatory disorders in which extracellular deposits of fibrallar proteins are responsible for tissue damage
Primary Amyloidosis AA protein and systemic in distribution (kidney, liver, spleen, lymph nodes, adrenals, thyroid gland, …etc.). Secondary to an ​associated inflammatory condition (rheumatoid arthritis, ankylosing ​spondylitis, and inflammatory bowel disease. Long-standing inflammation ​leads to increased interleukins 1 and 6  sustained elevation of SAA levels.
Reactive Systemic AmyloidoFamily Mediterranean Fever: Autosomal recessive. “Autoinflammatory” syndrome associated with excessive production of the cytokine IL-1. AA type, systemic. Autosomal recessive. “Autoinflammatory” syndrome associated with excessive production of the cytokine IL-1. AA type, systemic. Mutant transthyretin (TTR): Autosomal Dominant: peripheral nerves, cardiac amyloidosis
Heredofamilial Amyloidosis