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List of disease names and associations.
Terms in this set (39)
Microtubule polymerization defect resulting in ↓phagocytosis, results in recurren pyogenic infections, partial albinism, and peripheral neuropathy.
Immotile cilia due to a dynein arm defect, results in male and female infertility, bronshiectasis, and recurrent sinusitis (bacteria and particles not pushed out); associated with situs inversus.
Collagen synthesis impaired from lack of Vit C: no hydroxylation of proline and lysine residues in ER
Collagen synthesis impaired: no glycosylation of pro-α-chain lysine residues to form triple helix (procollagen).
Brittle bone disease, most common form is AD with Type I (bone, skin, tendon, teeth) collagen. Type II (cartilage) fatal.
Sx: multiple fractures with minimal trauma, blue sclerae due to translucency over choroid, hearing loss, dental imperfection from lack of dentin.
Collagen synthesis impaired: no cleavage of terminal regions of procollagen to form tropocollagen (insoluble form). Inheritance AD or AR. Type III collagen (skin, blood vessel, uterus) more affected.
Sx: hyperextensible skin, tendency to bleed, hypermobile joints.
Assoc: joint dislocation, berry aneurysm, organ rupture
Abnormal Type IV collagen (basement membrane). XR
Sx: progressive hereditary nephritis and deafness, ocular disturbances
Defect in fibrillin, improper scaffolding of elastin. Effect skeleton, heart, eyes.
Sx: tall with long extremities, pectus excavatum, hyperextensive joints, arachnodactyly, cystic medial necrosis of aorta --> aortic incompetence and dissecting aneurysms; floppy mitral valve. Subluxation of lenses.
No longer inhibits elastase --> emphysema
Deletion of Paternal allele 15q12: mental retardation, hyperphagia, obesity, hypogonadism, hypotonia.
Deletion of Maternal allele 15q12: mental retardation, seizures, ataxia, inappropriate laughter "happy puppet".
Leber's hereditary optic neuropathy
Degeneration of retinal ganglion cells and axons, leads to acute loss of central vision.
Dwarfism. Cell signaling defect of FGF receptor 3. Assoc with advanced paternal age.
Homozygous offsprings die.
Always bilateral, massive enlargement of kidneys from multiple cysts. APKD1 gene mutation on chr 16.
Assoc: polycystic liver disease, berry aneurysms, mitral valve prolapse.
Sx: flank pain, hematuria, HTN, progressive renal failure.
Colon becomes covered with adenomatous polyps after puberty. Progress to colon cancer unless resected. Deletion of APC gene on chr 5.
Elevated LDL due to defective or absent LDL receptor. Heterozygotes have cholesterol ≈300 mg/dL. Homozygote cholesterol ≈700 mg/dL.
Sx: severe atherosclerotic disease in early life, tendon xanthomas (Achilles tendon classic), MI before 20 y.o.
Osler-Weber-Rendu (Hereditary hemorrhagic telangiesctasia)
Inherited disorder of blood vessels.
Sx: telangiectasia, recurrent epistaxis, skin discoloration, AVMs.
Round erythrocytes due to spectrin or ankyrin defect.
Sx: hemolytic anemia, ↑MCHC.
Chr 4 trinucleotide repeat (CAG). Earlier onset with each generation.
Sx: depression, progressive dementia, choreiform movements, caudate atrophy, ↓GABA and ACh in brain.
Parathyroid tumors, pituitary tumors (prolactin or GH), pancreatic endocrine tumors (Zollinger-Ellison syndrome, insulinomas, VIPomas). Commonly presents with kidney stones and stomach ulcers
Ret gene mutation.
MEN2A (Sipple's): Medullary thyroid carcinoma (calcitonin), pheochromocytoma, parathyroid tumors.
MEN2B: Medullary thyroid carcinoma (calcitonin), pheochromocytoma, oral/intestinal ganglioneuromatosis (assoc with marfanoid habitus)
NF1 (von Recklinghausen)
Café-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders (scoliosis), optic pathway gliomas. Chr 17
Bilateral acoustic schwannomas, juvenile cataracts. Chr 22
Facial lesions, hypopigmented "ash leaf spots", cortical and retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipoma, cardiac rhabdomyoma ↑ risk of astrocytoma.
Incomplete penetrance, variable presentation.
Hemangioblastomas of retina, cerebellum, medulla. Bilateral renal cell carcinomas and other tumors. Assoc with deletion of VHL gene on chr 3p --> constitutional expression of HIF and activation of angiogenic growth factor.
AR defect on CFTR gene on chr 7. Actively secrete Cl- in lungs and GI, actively reabsorb Cl- form sweat.
Sx: recurrent pulmonary infections (pseudomonas, s. aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborn.
Dx: ↑ concentration of Cl- in sweat test
Tx: N-acetylcysteine to loosen mucous plug
↓ Tryptophan absorption, pellagra (diarrhea, dermatitis, diarrhea)
Pyruvate dehydrogenase deficiency
Lactic acidosis, congenital or acquired (alcoholics)
Sx: neurological defects
Tx: ↑ intake of ketogenic AA (lysine and leucine) in fat contents
Defect in fructokinase, AR, benign
Sx: fructose in urine
Deficiency in adolase B, ↑ fructose-1-P, ↓ available phosphate, inhibition of glycogenolysis and gluconeogenesis.
Sx: jaundice, cirrhosis, vomiting, hypoglycemia.
Tx: ↓ intake of fructose and sucrose (glucose + fructose)
Galactiol accumulates. AR
Sx: galactose in urine, infantile cataracts, failure to track object or develop social smile
AR, accumulation of galactiol and galactose-1-P
Sx: failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation.
Tx: exclude galactose and lactose (galactose and glucose) from diet
Acquired (liver disease) or hereditary. Excess NH4 depletes α-ketoglutarate, inhibit TCA cycle
Sx: tremor, slurring speech, somnolence, vomiting, cerebral edema, blurring vision
Tx: limit protein in diet, benzoate or phenylbutyrate bind amino acid and ↑ excretion
XR, excess carbamoyl phosphate converted to orotic acid (pyrimidine syn)
Sx: orotic acid in blood and urine, ↓ BUN, hyperammonemia
AR. ↓ Phenylalanine hydroxylase, ↑ phenylketones in urine
Sx: mental retardation, growth retardation, seizures, fair skin, eczema, musty BO
Tx: ↓ phenylalanine ↑ tyrosine
Maternal PKU: lack or proper diet during pregnancy. Infant has: microcephaly, mental retardation, growth retardation, congenital heart defects
Homogentistic acid oxidase deficiency, ↑ tyrosine ↓ degradation to fumarate. AR, benign.
Sx: dark connective tissue, brown pigmented sclera, uring turns black on standing, may have arthralgias (homogentistic acid toxic to cartilage
AR tyrosinase defect or defective tyrosine transporters, or lack of migration of neural crest cells.
AR. ↑ homocystieine ↓ cysteine
Sx: homocysteine in urine, mental retardation, psteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis --> marfanoid habitus
AR. Defect of renal tubular AA transporter for cysteine, ornithine, lysine, and arginine in PCT
Sx: staghorn cystine kidney stones, photophobia
Maple syrup urine disease
Blocked degradation of branched AA (Ile, Leu, Val) ↓ α-ketoacid DH
Sx: severe CNS defects, mental retardation, death
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