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    GENETIC DISORDERS

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    TABLE of GENETIC DISORDERSDisease
    Category
    Pathogenesis / Heredity
    Pathology, Cardinal Symptoms
    Cystic Fibrosis

    Autosomal Recessive. CFTR gene defect on Chrom 7 ------> No Cl- transport and failure to hydrate mucous secretions (no NaCl transport) ------> excessively viscous mucoid exocrine secretions
    Meconium ileus (caused by thick, mucoid meconium), respiratory bronchiectasis, Pseudomonas pneumonia, pancreatic insufficiency, hypertonic (high Cl- concentration) sweat.
    Fanconi Anemia

    Autosomal Recessive congenital pancytopenia.
    Normocytic anemia with neutropenia.
    Short stature, microcephaly, hypogenitalism, strabismus, anomalies of the thumbs, radii, and kidneys, mental retardation, and microphthalmia.
    Hartnup's Disease

    Autosomal Recessive. Defect in GI uptake of neutral amino acids ------> malabsorption of tryptophan (niacin precursor) ------> niacin deficiency among other things.
    Pellagra-like syndrome (diarrhea, dementia, dermatitis), light-sensitive skin rash, temporary cerebellar ataxia.
    Kartagener's Syndrome

    Autosomal Recessive. Defect in dynein arms ------> lost motility of cilia
    Recurrent sinopulmonary infections (due to impaired ciliary tract). Situs inversus, due to impaired ciliary motion during embryogenesis: lateral transposition of lungs, abdominal and thoracic viscera are on opposite sides of the body as normal. Possible dextrocardia, male sterility.
    Pyruvate Dehydrogenase Deficiency

    Autosomal Recessive. Pyruvate Dehydrogenase deficiency ------> buildup of lactate and pyruvate ------> lactic acidosis.
    Neurologic defects.
    Treatment: Increase intake of ketogenic nutrients (leucine, lysine) ------> increase formation of Acetyl-CoA from other sources.
    Xeroderma Pigmentosum

    Autosomal Recessive. Defect in DNA repair, inability to repair thymine dimers resulting from UV-light exposure ------> excessive skin damage and skin cancer.
    Dry skin, melanomas, pre-malignant lesions, other cancers. Ophthalmic and neurologic abnormalities.
    Familial Hypercholesterolemia
    Autosomal Dominant Disorders
    A group of inherited diseases associated with hypercholestrolemia.
    Heterozygous: accelerated atherosclerosis. Homozygous: accelerated atherosclerosis, MI by age 35, xanthomas.
    Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
    Autosomal Dominant Disorders
    Autosomal Dominant.
    Telangiectasias of skin and mucous membranes.
    Hereditary Spherocytosis
    Autosomal Dominant Disorders
    Autosomal Dominant. Band-3 deficiency in RBC membrane ------> spherical shape to cells. Other RBC structural enzyme deficiencies can cause it, too.
    Sequestration of spherocytes in spleen ------> hemolytic anemia.
    Huntington's Disease
    Autosomal Dominant Disorders
    Autosomal Dominant, 100% penetrance.
    Genetic defect on Chrom 4 ------> atrophy of caudate nuclei, putamen, frontal cortex.
    Progressive dementia with onset in adulthood, choreiform movements, athetosis.
    Marfan's Syndrome
    Autosomal Dominant Disorders
    Autosomal Dominant. Fibrillin deficiency ------> faulty scaffolding in connective tissue (elastin has no anchor).
    Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse.
    Neurofibromatosis (Von Recklinghausen Disease)
    Autosomal Dominant Disorders
    Autosomal Dominant. NF1 gene defect (no GTPase protein) ------> dysregulation of Ras tumor-suppressor protein.
    Multiple neurofibromas (Café au Lait spots) which may become malignant, Lisch nodules (pigmented hamartomas of the iris).
    Increased risk for tumors: pheochromocytoma, Wilms tumor, Rhabdomyosarcoma, leukemias.
    Tuberous Sclerosis
    Autosomal Dominant Disorders
    Autosomal Dominant.
    Tubers (glial nodules), seizures, mental retardation. Associated with adenoma sebaceum (facial lesion), myocardial rhabdomyomas, renal angiomyolipomas.
    Von Hippel-Lindau Syndrome
    Autosomal Dominant Disorders
    Autosomal Dominant, short arm of chromosome 3. Same genetic region is associated with incidence of renal cell carcinoma.
    (1) Hemangioblastomas of cerebellum, medulla, or retina, (2) adenomas, (3) cysts in visceral organs. High risk for renal cell carcinoma.
    Congenital Fructose Intolerance
    Carbohydrate Metabolism Defect
    Autosomal Recessive. Aldolase B deficiency ------> buildup of Fructose-1-Phosphate in tissues ------> inhibit glycogenolysis and gluconeogenesis.
    Severe hypoglycemia. Treatment: Remove fructose from diet.
    Galactosemia
    Carbohydrate Metabolism Defect
    Autosomal Recessive. Inability to convert galactose to glucose ------> accumulation of galactose in many tissues.
    (1) Classic form: Galactose-1-phosphate Uridyltransferase deficiency.
    (2) Rarer form: Galactokinase deficiency.
    Failure to thrive, infantile cataracts, mental retardation. Progressive hepatic failure, cirrhosis, death.
    Galactokinase-deficiency: infantile cataracts are prominent.
    Treatment: in either case, remove galactose from diet.
    Angelman Syndrome
    Chromosomal
    Deletion of part of short arm of chromosome 15, maternal copy. An example of genomic imprinting.
    Mental retardation, ataxic gait, seizures. Inappropriate laughter.
    Cri du Chat Syndrome
    Chromosomal
    5p-, deletion of the long arm of chromosome 5.
    "Cry of the cat." Severe mental retardation, microcephaly, cat-like cry. Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds.
    Down Syndrome
    (Trisomy 21)
    Chromosomal
    Trisomy 21, with risk increasing with maternal age. Familial form (no age-associated risk) is translocation t(21,x) in a minority of cases.
    Most common cause of mental retardation. Will see epicanthal folds, simian crease, brushfield spots in eyes. Associated syndromes: congenital heart disease, leukemia, premature Alzheimer's disease (same morphological changes).
    Edward's Syndrome
    (Trisomy 18)
    Chromosomal
    Trisomy 18
    Mental retardation, micrognathia, rocker-bottom feet, congenital heart disease, flexion deformities of fingers. Death by 1 year old.
    Patau's Syndrome
    (Trisomy 13)
    Chromosomal
    Trisomy 13
    Mental retardation, microphthalmia, cleft lip and palate, polydactyly, rocker-bottom feet, congenital heart disease. Similar to and more severe than Edward's Syndrome. Death by 1 year old.
    Prader-Willi Syndrome
    Chromosomal
    Deletion of part of short arm of chromosome 15, paternal copy. An example of genomic imprinting.
    Mental retardation, short stature, hypotonia, obesity and huge appetite after infancy. Small hands and feet, hypogonadism.
    Fragile-X Syndrome
    Chromosomal
    Sex chromosome
    Progressively longer tandem repeats on the long arm of the X-chromosome. The longer the number of repeats, the worse the syndrome. Tandem repeats tend to accumulate through generations.
    Second most common cause of mental retardation next to Down Syndrome. Macro-orchidism (enlarged testes) in males.
    Klinefelter's Syndrome (XXY)
    Chromosomal
    Sex chromosome
    Non-disjunction of the sex chromosome during Anaphase I of meiosis ------> Trisomy (47,XXY)
    Hypogonadism, tall stature, gynecomastia. Mild mental retardation. Usually not diagnosed until after puberty. One Barr body seen on buccal smear.
    Turner's Syndrome (XO)
    Chromosomal
    Sex chromosome
    Non-disjunction of the sex chromosome during Anaphase I of meiosis ------> Monosomy (45,X)
    Streak gonads, primary amenorrhea, webbed neck, short stature, coarctation of Aorta, infantile genitalia. No mental retardation. No Barr bodies visible on buccal smear.
    XXX Syndrome
    Chromosomal
    Sex chromosome
    Trisomy (47,XXX) and other multiple X-chromosome abnormalities.
    Usually phenotypically normal. May see menstrual abnormalities or mild mental retardation in some cases.
    Ehlers-Danlos Syndrome
    Connective Tissue disease
    Various defects in collagen synthesis.
    Type-I: Autosomal dominant, mildest form.
    Type-IV: autosomal dominant. Defect in reticular collagen (type-III)
    Type-VI: autosomal-recessive.
    what is toxicities assoc. w/ Ritodrine (a B-agonist to reduce preterm labor

  2. #2
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    to moderator or someone who knows

    Why I cannot read these posts? Thanks.

  3. #3
    PRS's Avatar
    PRS
    PRS is offline Newbie 510 points
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    whats this ??? cant read anything

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    327ytr is offline Newbie 510 points
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    whatever it is it must be good but what it is i m not able to read it

  5. #5
    doctor_viz is offline Newbie
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    Thank god! I am not alone. I thought my computer has gone crazy, as many meaages in this forum appear as weird as the one down here. Hope the adminstrators will come to our rescue. Amen

  6. #6
    ol' man's Avatar
    ol' man is offline Elite Member 49 points
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    This post makes about as much sense to me as biochem did!

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