Genetic Disorders

Genetic disorders are illnesses that are caused by changes or variants in the genes. Sometimes these abnormalities in the genes are recognized by the cells and are repaired but at other times, they can cause  different types  of diseases.  These genes are then passed on from one generation to others, but it does not mean that a person will eventually suffer from the genetic disorders.  Researchers have discovered more than 4000 diseases caused by gene abnormality, although some of them are  quite rare.

Genetic Disorder List

The list contains some of the common genetic disorders, some of which are partly caused by  environmental factors.

  1. Albinism – This condition is caused by the lack of or adequate amounts of melanin in the body. Melanin is the chemical that is responsible for providing color to the skin, hair and the eyes, and it is produced by cells that are found in the bottom layer of the skin.
  2. Color Blindness -This is the inability of seeing colors the way they should be seen, and it occurs when the pigments in the nerves of  the eye, called cones, have problems. The most coming type of this disorder is the failure to distinguish between green and red.
  3. Down Syndrome – This genetic disorder occurs when a person has  47 chromosomes instead of the normal 46.  It occurs when the person has an extra chromosome 21, and this causes problems with the development of the body and the brain.
  4. Hemophilia – As one of the rare genetic disorders, Hemophilia is the lack of the blood clotting factors, causing the people suffering to be prone  to bleeding, especially internal  bleeding.
  5. Tay-Sachs Disease – This is a disease that affect the nervous system caused by the lack of Hexosaminidase A,  which is responsible for breaking down a chemical found in the brain.
  6. Turner Syndrome – This condition is caused by the lack of one of the X chromosomes in women.  The cells may be missing a part or all of the X chromosome.
  7. Muscular Dystrophy – This is a set of disorders that is characterized by  muscle weakness, with the loss of the muscle tissue getting  worse as time goes by.
  8. Sickle Cell Anemia – Also known as Hemoglobin SS,  Sickle cell anemia is a condition in which the red blood cells have an abnormal crescent shape, instead of the usual disc-like shape. These sickle cells deliver les oxygen to the cells and tissues.
  9. Achondroplasia –  As one of the  genetic disorders in osteochondrodysplasias, this disorder affects the growth of the bone, resulting to a type of dwarfism.
  10. Crohn’s Disease – Also called UM inflammatory bowel disease, the condition affects the intestines causing pain, diarrhea, fistula, liver problems among others. It has no cure, therefore patients must learn to manage it throughout their lives.
  11. Fragile X Disease – As one of the genetic disorders affecting the X chromosome by changing a part of it, this condition causes mental retardation in males and a small number of females.
  12. Cancer Genetics – There are different types of cancers that fall under the genetic disorder list, including Ovarian cancer, breast cancer, prostrate cancer and colorectal cancer, which affects the large intestines or the rectum.
  13. Wilson Disease – Also known as Hepatolenticular degeneration , it occurs when the body tissues have too much copper, resulting to damage of the liver and the nervous system.
  14. Phenylketonuria –  Also known as PKU or Neonatal Phenylketonuria, this is one of the rare genetic disorders, and it arises when a baby is born unable to break phenylalanine- one of the amino acids in the body.
  15. Parkinson’s Disease – This condition involves the brain cells. It occurs when the brain nerve cells that produce dopamine are destroyed  and causes tremors and difficulty in walking.
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