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genetic disorders

biochem-genetics

APKD always bilateral, present with pain, hematuria, HTN, progressive renal failure. APKD1 gene mutation. Asst'd with polycystic liver disease, BERRY ANEURYSMS, miltral valve prolapse, recessive juvenille form
Neurofibromatosis type I cafe-au-lait-spots, neural tumors, lisch nodules (pigmented iris hamartomas) skeletal disorders like scoliosis, pheo, and tumors. chrom 17 mutation aka con Recklinghausen's disease
Neurofibromatosis type II bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts. NF2 gene on chrom 22. type 2=22. risk of astrocytoma
Tuberous Sclerosis facial lesions (adenoma sebaceum), ash leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas. incomplete penetrace.
Von Hippel-Lindau hemangioblastomas of retina/cerebellum/medulla; half develop bilateral renal cell carcinoma. VHL gene tumor suppresor on chrom 3 (3 words in VHL)
achondroplasia autosomal dominant, results in dwarf: short limbs, head and trunk normal, defect of FGF cell signaling
hereditory sperocytosis spheroid erythrocytes; hemolytic anemia; increased MCHC, cured by splenectomy
FAPolyposis colon covered with adenomatous polyps after puberty. Deletion on chrom 5, 5 letters in polyp
huntington's depression, demetia, choreiform movements, caudate atrophy and low GABA and ACh elvels. b/w 20 and 50. triplet repeat disorder. hunting 4 food. chrom 4.
Cystic Fibrosis auto recessive, CFTR gene on chrom 7. Pseudomonas and S. Aureus infections, males no vas deferens. Tx N acetylcysteine to loosen mucous plugs. most common lethal genetic disease in caucasians
Trinucleotide Repeat Expansion diseases Huntington's, myotonic dystrophy, Friedreich's ataxia, fragile X syndrome. can show anticipation
Edward's Sydrome, Trisomy 18 severe mental retardation, rocker bottom feet, micrognathia and low set ears, congenital heart disease, clenched hands. death by age 1
Patau's Syndrome, Trisomy 13 severe retardation, microphthalmia, microcephaly, cleft lip/palate, abnormal forebrain structures, polydactyly, congenital heart disease, death by one year
Down's Syndrome 95% due to meiotic nondisjunction of homologous chromosomes. low levels of alpha fetoprotein, high B-hCG, high nuchal translucency. septum primum, ASD due to endocardial cushion defect, duodenal atresia, prominent epicanthal folds, simian crease
Cri-du-Chat Congenital deletion of short arm of chrom 5. 46, XX or XY 5p- . microcephaly, severe retardation, high pitched cry, epicanthal folds, cardiac abnormalities
Bruton's agammaglobulinemia x linked recessive, tyrosine kinase defect, low levels of all immunoglobulins. Recurrent bacterial infections post six months of age when maternal IgG's decline. BOYS (xlinked) and BACTERIAL infection
Thymic Aplasia (DiGeorge) 3rd and 4th pharyngeal pouch deficit, Thymus and parathyroid don't develop. tetany from hypocalcemia, viral and fungal infections from low T cells. Congenital defects of heart and great vessels. 22q11 deletion
SCID, B and T cell defect in stem cell differentiation, viral bacterial fungal and protozoal infections. many causes. (ex. no MHCII, bad IL-2 receptor)
IL-12 receptor deficiency on T cells disseminated mycobacterial infections
hyper IgM syndrome Defect in CD40 ligand on CD4 T helper cells, inability to class switch. severe pyogenic infections. high IgM, low everything else
Wiscott-Aldrich Syndrome X linked, can't mount IgM response to capsular bacteria (esp strep pneumo). WIPE: wiscott, pyogenic Infections, purpura, eczema. 12% get non hodgkin's lymphoma
Job's syndrome low macrophage activation, failure of gamma interferon production by T helper cells. neutrophils don't respond with chemotaxis. recurrent noninflamed staph abcesses, eczema, coarse facies, retained primary teeth, and high IgE
Leukocyte adhesion deficiency defect in LFA-1 adhesion proteins on phagocytes. early presentation with delayed separation of umbilicus
Chediak-Higashi disease auto recessive. defect in microtubular function and lysosomal emptying of phagocytic cells. staph and strep infections, partial albinism, peripheral neuropathy
chronic granulomatous disease Phagocytosis not working, neuts lack NADPH oxidase. diagnose with negative nitroblue tetrazolium dye reduction test
ataxia telangiectasia DNA repair enzyme deficiency asst'd with IgA deficiency. cerebellar probs (ataxia) and spider angiomas (telangiectasia). x-ray repain dysfunction
Created by: rocktheboat4
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