1. Hemophilia
  2. Fragile X
  3. Alphathalassemia
    XR; mutation in Xq13 ---> deletion of helicase gene ATRX which is responsible for many gene expression ---> loss of expression of HbA(hemophilia) or mental retardation
  4. Rett Syndrome
    XD; Female only- lethal in males; mutation in MECP2 protein involved in transcriptional silencing and regulating methylation; hand wringing, seizures, mental retardation, regression of skill and speech.
  5. Hypophosphatemia
    XD; defect in PHEX gene which is an endopeptidase involved in phosphate regualtion; *Vit.D resistant rickets, bone deformation, short stature
  6. Craniofrontonasal Syndrome
    XD; *cellular interference makes it less severe in males; defect in EFNB1 gene for ephrin receptor so fail to establish tissue boundaries; mental retardation seizures.
  7. Sickle Cell Anemia
  8. Phenylketourea
    ARD; *locus heterogeneity; PKE2 is more severe than PKE1
  9. Marfan Syndrome
    ADD; mutation in FBN1 which encodes connetive tissue protein fibrillin-1; tall, long limbs, thin fingers, heart valve deficit, joint problems, flat feet, high TGF-beta levels, manage by preventing dilation of aorta via beta-blockers, ACE inhibitors, lower HR and BP, see cardiologist
  10. Cystic Fibrosis
    ARD; diagnose with high Cl- in sweat; mutation in CFTR channel causes loss of function of Cl- channel; lung via pseudomonas aeruginosa, GI, pancrease, hepatobiliary cirrosis
  11. Myscular Dystrophy
    XR; Manesfesting heterozygote (ie lyonization) can occur; symmetrical muscular weakness, calf hypertrophy, symptom before age 5 means wheel chair dependent before 13 yrs
  12. Leber Optic Neuropathy
    mitochondrial disease; hyperemia of optic disk with blurred margins, cloudy, loss of vision; reduced penetrance at 45%
  13. Huntington Disease
    ADD;Dom (-) activity; CAG nucleotide repeat (poly Glut); onset after 35-45 years; involuntary head movement, degenerating brain, 26-40 normal to full penetrant HD
  14. Neurofibromatosis
    ADD; may not see vertical pedegree cus 50% are new founder cases
  15. Tay Sachs
    ARD; mutation in HEXA gene causing accumulation of gangliosides in lysosome; high prevelence in ashkenazi jews; severe in acute infantile- progressive weakness, loss of motor skills, blindness, seizures, spacticity, death before age 4 or adult onset chronic- slower and bipolar psychosis
  16. Achondroplasia
    ADD; gain of function type; *no vertical pedegree; mutated FGFR3 growth factor receptor gene causes an overactive tyrosine kinase increases differentiation and stops growth
  17. Familar Hypercholestorelemia
    ADD; haploinsufficiency; mutated LDL receptor of binding domain of apolipoprotB-100; aortic valve stenosis, high cholesterol, corneal arcus, tenosynovitis, Xanthelosma palpebrarum, tuberous xanthamus; treat with statins
  18. Color Blindness
  19. Down Syndrome
    Trisomy 21; most common 1/800 births; male sterile/female fertile; 66% due to nondisjunc in MI; mental retardation, heart malformation, high leukemia, GI tract, duodenal stenosis, imperforate anus, hirschsprung (enlarged colon)
  20. Turner Syndrome
    45 X; loss of pseudoautosomal region; short stature, sexyal infantilism, heart defect, kidney defect, puffy feet, extra skin; 60-80% loss of Y during Meiosis or mosaic loss during mitosis
  21. Edwards Syndrome
    Trisomy 17; 1/6000 births, 95% Spontatenously aborted; 50% of born die within 1st week; 95% die within first year
  22. Patau Syndrome
    Trisomy 13; 1/10K births, mental retard, motor deficiency, polydactyly, heart deficit, eye and cleft palate
  23. Klinefelter Syndrome
    47 XXY, one barr body inactivated so no pseudoautosomal region; hypogonad, taller, longer arm, sterility due to atrophy of seminiferous tubules, low testosterone, gynecomastia, low IQ, low muscle mass
  24. Trisomy X
    some sterility menstrual irregularies, mild mental retard, due to nondisjunction
  25. XYY Syndrome
    increased incidence in prison pop. 1/30 compared to 1/1000 normally; Can only occur with nondysjunction in MII; Taller, lower IQ, ADD and learning disability
  26. XX male and XY female
    cross over of X and Y chromosome occurs during meiosis but can occur outside of the pseudoautosomal region so SRY gene is swapped onto X chromo; sex determined at a 6 weeks; each has all plumbing of the other, no one has sperm or egg
Card Set
Genetics Diseases