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 genetic diseases....  



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Author9 Posts
  #1

hi !
can anybody tell me the list of common autosomal (dominant& recessive) & X- linked ( dominant& recessive) diseases.
thanks in advance
good luck.




  #2

Few examples
AUTOSOMAL RECESSIVE
CF, Fanconi's anemia, Hartnup dis, Kartagner synd, Pyruvate dehydrogenase def, Xeroderma pigmentosa, Cong fructose Intolerance, Galactosemia, Cori's dis, Mc Ardle dis, Pompe dis, Fabry's dis, Gaucher's dis, Neiman Pick dis, Hurler dis, Tay Sachs, Albinism, Alkaptonuria, Homocystinuria, Maple syrup urine dis, PKU, Von Gierke's dis, Ataxia telangectasia, SCID, Bartter synd, Fanconi synd I, II, Glycolytic enz def, PKD,

AUTOSOMAL DOMINANT
Familial hypercholesterolemia, Osler Weber Rendu synd, Hered spherocytosis, Huntington dis, Marfan synd, NF (Von Recklinghausen), Tuberous Sclerosis, VWD, PKD

X LINKED DISEASES
Fragile X, Turner synd, XXX synd, CGD, Bruton's agammaglobulinemia
X LINKED RECESSIVE
Hemophilia A & B, Hunter synd, Lesch Nyhan, G6PD def

CHROMOSOMAL DISORDERS
Criduchat (5), Patau synd (13), Angelman/Prader Willi (15), Edward synd (18), Down synd (21), Turner synd (45), XXX synd (47)

CONNECTIVE TISSUE DISORDERS
Ehlers Danlos, Osteogenesis Imperfecta

PHAGOCYTIC DISORDERS
Chediak Higashi synd, CGD, Job's synd

B-CELL DEFECTS
Selective IgA def, Bruton's

T-CELL DEFECTS
Chronic mucous candidiasis, Di George synd

COMBINED DISORDERS
Ataxia Telangectasia, SCID, Wiscott Aldrich synd

IMMUNE DEFICENCIES
Ataxia Telangectasia, Chediak Higashi, CGD, Chronic mucous candidiasis, Di George synd, Job's synd, Selective IgA def, SCID, Wiscott ALdrich, Bruton's

GENOMIC IMPRINTING
Angelman, Prader Willi


  #3

Edaward Sd chr 18 :oops:


  #4

yeah thats what i wrote too for edward synd, but somehow this site always show that cool icon whenever u write number eight


  #5

thanks for replying , can give me a tip to memorize it easily.
good luck.


  #6

hi !
i want to ask PKD is autosomal dominant or recessive ?
thanks & good luck.


  #7

Adult polycystic kidney dis is autosomal dominant
Polycystic kidney disease in children in autosomal recessive


  #8

thanks dxtxpx.
good luck for your exams.


  #9

thankyou I just started so I am gonna take some time. I dont even have all the books yet but I am getting them soon





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