List of Genetic Disorders and Diseases Information

Genetic Disorders

A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects:

They may be caused by an unwelcome mutation, as are most cancers.
There are genetic disorders caused by the accidental duplication of a chromosome, as in Down syndrome, or repeated duplication of part of a chromosome as in Fragile X syndrome.
The defective genes are often inherited from the person's parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unxpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.

Genetic disorders can frequently be explained as due to the change of a single DNA base in a gene, resulting in an enzyme or other protein either not being produced, or having altered functionality. This can be trivial and relatively harmless in its effects, such as color blindness, or lethal such as Tay-Sachs. Other disorders, though harmful to those afflicted with them, appear to offer some advantage to carriers; as in carriers of sickle cell anemia and thalassaemia appearing to have enhanced resistance to malaria.

Several hereditary diseases are sex-linked, meaning that they afflict one sex much more common than the other because the mutation is located on the X (or, rarely, on the Y) chromosome.

List of Genetic Disorders

This list is not comprehensive.

Achondroplasia
Achromatopsia
Acid Maltase Deficiency
Adrenoleukodystrophy
Aicardi Syndrome
Alpha-1 Antitrypsin Deficiency
Androgen Insensitivity Syndrome
Angelman Syndrome
Apert Syndrome
Arrhythmogenic Right Ventricular Dysplasia
Ataxia Telangiectasia
Barth Syndrome
Blue Rubber Bleb Nevus Syndrome
Canavan Disease
Cri Du Chat Syndrome
Cystic Fibrosis
Dercum's Disease
Down Syndrome
Ectodermal Dysplasia
Fanconi Anemia
Fibrodysplasia Ossificans Progressiva
Fragile X Syndrome
Galactosemia
Gaucher Disease
Hemochromatosis
Hemophilia
Huntington's Disease
Hurler Syndrome
Hypophosphatasia
Joubert Syndrome
Klinefelter Syndrome
Krabbes Disease
Langer-Giedion Syndrome
Leukodystrophy
Long QT Syndrome

Marfan Syndrome
Moebius Syndrome
Mucopolysaccharidosis (MPS)
Nail Patella Syndrome
Nephrogenic Diabetes Insipidus
Neurofibromatosis
Niemann-Pick Disease
Osteogenesis Imperfecta
Pelizaeus-Merzbacher Disease
Phenylketonuria
Porphyria
Prader-Willi Syndrome
Progeria
Proteus Syndrome
Retinoblastoma
Rett Syndrome
Rubinstein-Taybi Syndrome
Sanfilippo Syndrome
Shwachman Syndrome
Sickle Cell Disease
Smith-Magenis Syndrome
Stickler Syndrome
Tay-Sachs

Thrombocytopenia Absent Radius (TAR) Syndrome

Treacher Collins Syndrome

Trisomy
Tuberous Sclerosis
Turner's Syndrome
Urea Cycle Disorder
von Hippel-Lindau Disease
Waardenburg Syndrome
Williams Syndrome
Wilson's Disease

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