Could anyone give me a list of genetic diseases.\?

Question

We have to do a report in class. I have been searching the internet, but I can only find common ones, and I want to write about an original and interesting disease.

Answer 1

Sickle Cell Disease
Treacher Collins Syndrome
Rett Syndrome
Dercum's Disease
Marfan Syndrome
Hemophilia
Thrombocytopenia Absent Radius (TAR) Syndrome
Urea Cycle Disorder
Retinoblastoma
Rubinstein-Taybi Syndrome
Hurler Syndrome
Nail Patella Syndrome
Wilson's Disease
Turner's Syndrome
Cystic Fibrosis
Hypophosphatasia
Trisomy
Proteus Syndrome
Neurofibromatosis
Gaucher Disease
Adrenoleukodystrophy
Achromatopsia
Osteogenesis Imperfecta
Long QT Syndrome
Waardenburg Syndrome
Niemann-Pick Disease
Klinefelter Syndrome
Williams Syndrome
Alpha-1 Antitrypsin Deficiency
Arrhythmogenic Right Ventricular Dysplasia
Huntington's Disease
Androgen Insensitivity Syndrome
Fanconi Anemia
Krabbes Disease
Leukodystrophy
Blue Rubber Bleb Nevus Syndrome
Porphyria
Aicardi Syndrome
Prader-Willi Syndrome
Achondroplasia
Shwachman Syndrome
von Hippel-Lindau Disease
Langer-Giedion Syndrome
Stickler Syndrome
Ectodermal Dysplasia
Acid Maltase Deficiency
Hemochromatosis
Tay-Sachs
Ataxia Telangiectasia
Sanfilippo Syndrome
Mucopolysaccharidosis (MPS)
Galactosemia
Tuberous Sclerosis
Canavan Disease
Nephrogenic Diabetes Insipidus
Apert Syndrome
Progeria
Fibrodysplasia Ossificans Progressiva
Smith-Magenis Syndrome
Barth Syndrome
Cri Du Chat Syndrome
Moebius Syndrome
Fragile X Syndrome

Answer 2

First of all, not everyone agrees that Lincoln had Marfan syndrome. But a report on Marfan's might be interesting because of its variable expression.

How about G6PD deficiency? (Glucose 6 phosphate dehydrogenase). It's a sex-linked recessive, relatively common abong blacks and persons whose origins are from the eastern Mediterranean basin, and an affected person might never know he has it unless he eats certain foods like fava beans, or takes certain drugs. It would make a good medical detective story.

Answer 3

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

Currently listing over 17,000. Knock yourself out.

Edit - if you want something interesting that not many people have heard of (I'm assuming you're in high school), check out Lesch-Nyhan syndrome. Extremly bizarre behavioral disturbances and a well-established genetic mutation. Basic LNS info: http://en.wikipedia.org/wiki/Lesch-Nyhan

Answer 4

Downes Syndrome
Williams Syndrome
Marfan Syndrome (Pres Lincoln had it)

Answer 5

i like to eat rice with different issues. i will eat macaroni & cheese by potential of itself yet i'm no longer able to mac & cheese for all time by using intense ldl cholesterol. SO - i like the rice suited.