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-Life Science Projects

Genetic Disorder List

Below you’ll find a list of common genetic disorders. These include both gene and chromosome disorders. Some of these disorders are inherited from parents, while others are a result a mutation within a single individual. Scroll down to read more.

List of Common Genetic Disorders

1. Angelman Syndrome/Prader-Willi Syndrome – An uncommon inherited disorder characterized by mental retardation, decreased muscle tone, and life-threatening obesity. When this genetic mutation is inherited from the mother, Angelman Syndrome arises which causes neurological problems including jerky movements and spontaneous laughter.
2. Canavan Disease – A degenerative disorder that causes progressive damage to nerve cells in the brain.
3. Cancer – Uncontrolled growth of abnormal cells in the body.
4. Celiac Disease – A disease that triggers an autoimmune response that causes damage to the small intestine when certain types of protein, called gluten, are eaten.
5. Color Blindness – Occurs when you are unable to see colors in a normal way.
6. Cri du chat Syndrome (Cat’s Cry Syndrome) – The syndrome’s name is based on the infant’s cry, which is high pitched and sounds like a cat.
7. Cystic Fibrosis – A recessive genetic disease in which the exocrine glands of afflicted individuals produce abnormally thick mucus that block the intestines and lung passageways. People with the disease have a very hard time breathing and often die from suffocation.
8. DiGeorge Syndrome – While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.
9. Down Syndrome –
A chromosome abnormality, usually due to an extra copy of the 21st chromosome. This syndrome usually, although not always, results in mental retardation and other conditions.
10. Duchenne & Becker Muscular Dystrophy – The muscular dystrophies are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.
11. Fragile X – A genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.
7. Cystic Fibrosis – A recessive genetic disease in which the exocrine glands of afflicted individuals produce abnormally thick mucus that block the intestines and lung passageways. People with the disease have a very hard time breathing and often die from suffocation.
8. DiGeorge Syndrome – While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.
9. Down Syndrome –
A chromosome abnormality, usually due to an extra copy of the 21st chromosome. This syndrome usually, although not always, results in mental retardation and other conditions.
10. Duchenne & Becker Muscular Dystrophy – The muscular dystrophies are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.
11. Fragile X – A genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.
12. Familial hypercholesterolemia – Characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein
13. Haemochromatosis – A disorder that causes the body to absorb too much iron from the diet.
14. Hemophilia – A rare disorder in which your blood doesn’t clot normally because it lacks sufficient blood-clotting proteins.
15. Kleinfelters – A genetic condition that results when a boy is born with an extra copy of the X chromosome.
16. Neurofibromatosis – A genetic disorder that causes tumors to form on nerve tissue
17. Huntington Disease – A hereditary, degenerative brain disorder for which there is no effective treatment or cure. HD slowly diminishes the affected individual’s ability to walk, think, talk and reason.
18. Phenylketonuria (PKU) – A hereditary disorder in which the amino acid phenylalanine isn’t properly metabolized. As a result, the amino acid can build up to dangerous levels in the blood and other tissues, causing mental retardation and other serious health problems.
19. Polycystic Kidney Disease – A genetic disorder characterized by the growth of numerous cysts in the kidneys. The cysts can reduce kidney function and lead to kidney failure.
20. Sickle Cell Anemia – An inherited disorder that affects hemoglobin, a protein that enables red blood cells to carry oxygen to all parts of the body, resulting in a low number of red blood cells and periodic pain.
21. Spinal Muscular Atrophy- A disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe
22. Tay-Sachs Disease – A rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord, found to be more common in people of Ashkenazi Jewish heritage than in those with other backgrounds.
23. Triple-X Syndrome – A rare chromosomal genetic syndrome with one or more extra X chromosomes, leading to XXX (or more rarely XXXX or XXXXX), instead of the usual XX. These people are females and can be unaffected, or may suffer from problems such as infertility and reduced mental acuity.
24. Turner’s Syndrome – A chromosomal condition that exclusively affects girls. It occurs when one of the two X chromosomes normally found in females is missing or incomplete.

Get my Genetic Disorder Project Packet here.

List of Debatable Genetic Disorders

The exact genetic causes of these disorders is still mostly unknown. Some lifestyle factors may play a role.

25. Obesity Obesity is an excess of body fat that frequently results in a significant impairment of health.
26. Alzheimer’s Disease – A progressive brain disorder that gradually destroys a person’s memory and ability to learn, reason, make judgments, and communicate.
27. Autism – A broad range of conditions characterized by challenges with social skills, repetitive behaviors, speech and nonverbal communication.
28. Diabetes, type 1 (Juvenile Diabetes) and Type 2 – A chronic metabolic disorder that adversely affects the body’s ability to manufacture and use insulin, a hormone necessary for the conversion of food into energy.
29. Parkinson’s Disease – A motor system disorder which is the result of the loss of dopamine-producing brain cells. Parkinson’s can cause tremors, rigidity, slowness of movement and postural instability.

Read more on how I teach my DNA unit.

List of Other Genetic Mutations

These mutations do not cause health problems, so are not considered a disorder.

30. Shar Pei Skin – The wrinkled skin of these dogs defines them, but it was originally caused by a mutation.
31. Double Muscled Cattle – Belgian Blue cows have a mutation that gives them double the muscle.
32. Extra-Toed Cats – Some cats have 7 toes due to a mutation.
33. Curly Hair in Dogs – Some dogs have a trait that allows their hair to grow and not shed.
34. Wrinkled Peas – Pea plants have either smooth or wrinkled peas.
35. Red Hair – Red hair is common in Scotland and Ireland where this mutation originated.
36. Lactose Tolerance – Being able to digest the lactose in milk originated as a mutation.

Get my Genetic Disorder Project Packet here.

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