Genetic Diseases

Medically Reviewed on 3/10/2022

What is a genetic disease?

Abnormalities in an individual's genetic makeup cause genetic disease.
Abnormalities in an individual's genetic makeup cause genetic disease.

A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some people inherit genetic disorders from their parents, while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases. Genetic mutations can occur either randomly or due to some environmental exposure.

What are the four types of genetic disorders (inherited)?

There are four different types of genetic disorders (inherited) and include:

  1. Single gene inheritance
  2. Multifactorial inheritance
  3. Chromosome abnormalities
  4. Mitochondrial inheritance

7 single gene inheritance disorders

Single gene inheritance is also called Mendelian or monogenetic inheritance. Changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance. There are thousands of known single-gene disorders. These disorders are known as monogenetic disorders (disorders of a single gene).

Single-gene disorders have different patterns of genetic inheritance, including

  • autosomal dominant inheritance, in which only one copy of a defective gene (from either parent) is necessary to cause the condition;
  • autosomal recessive inheritance, in which two copies of a defective gene (one from each parent) are necessary to cause the condition; and
  • X-linked inheritance, in which the defective gene is present on the female, or X-chromosome. X-linked inheritance may be dominant or recessive.

Some examples of single-gene disorders include

  1. cystic fibrosis,
  2. alpha- and beta-thalassemias,
  3. sickle cell anemia (sickle cell disease),
  4. Marfan syndrome,
  5. fragile X syndrome,
  6. Huntington's disease, and
  7. hemochromatosis.

7 common multifactorial genetic inheritance disorders

Multifactorial inheritance is also called complex or polygenic inheritance. Multifactorial inheritance disorders are caused by a combination of environmental factors and mutations in multiple genes. For example, different genes that influence breast cancer susceptibility have been found on chromosomes 6, 11, 13, 14, 15, 17, and 22. Some common chronic diseases are multifactorial disorders.

Examples of multifactorial inheritance include

  1. heart disease,
  2. high blood pressure,
  3. Alzheimer's disease,
  4. arthritis,
  5. diabetes,
  6. cancer, and
  7. obesity.

Multifactorial inheritance also is associated with heritable traits such as fingerprint patterns, height, eye color, and skin color.


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Chromosomal abnormalities

Chromosomes, distinct structures made up of DNA and protein, are located in the nucleus of each cell. Because chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. Chromosomal abnormalities typically occur due to a problem with cell division.

For example, Down syndrome (sometimes referred to as "Down's syndrome") or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. There are many other chromosomal abnormalities including:

  1. Turner syndrome (45, X0),
  2. Klinefelter syndrome (47, XXY), and
  3. Cri du chat syndrome, or the "cry of the cat" syndrome (46, XX or XY, 5p-).

Diseases may also occur because of chromosomal translocation in which portions of two chromosomes are exchanged.

3 mitochondrial genetic inheritance disorders

This type of genetic disorder is caused by mutations in the non-nuclear DNA of mitochondria. Mitochondria are small round or rod-like organelles that are involved in cellular respiration and found in the cytoplasm of plant and animal cells. Each mitochondrion may contain 5 to 10 circular pieces of DNA. Since egg cells, but not sperm cells, keep their mitochondria during fertilization, mitochondrial DNA is always inherited from the female parent.

Examples of the mitochondrial disease include

  1. Leber's hereditary optic atrophy (LHON), an eye disease;
  2. myoclonic epilepsy with ragged red fibers (MERRF); and
  3. mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a rare form of dementia.

What is the human genome?

The human genome is the entire "treasury of human inheritance." The sequence of the human genome obtained by the Human Genome Project, completed in April 2003, provides the first holistic view of our genetic heritage. The 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes) between them house almost 3 billion base pairs of DNA that contain about 20,500 protein-coding genes. The coding regions make up less than 5% of the genome (the function of all the remaining DNA is not clear) and some chromosomes have a higher density of genes than others.

  • Most genetic diseases are the direct result of a mutation in one gene.
  • However, one of the most difficult problems ahead is to further elucidate how genes contribute to diseases that have a complex pattern of inheritance, such as in the cases of diabetes, asthma, cancer, and mental illness.
  • In all these cases, no one gene has the yes/no power to say whether a person will develop the disease or not.
  • It is likely that more than one mutation is required before the disease is manifest, and a number of genes may each make a subtle contribution to a person's susceptibility to disease;
  • genes may also affect how a person reacts to environmental factors.

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Medically Reviewed on 3/10/2022
United States. CDC. "Facts About Down Syndrome." <>.

United States. National Heart, Lung, and Blood Institute. "Cystic Fibrosis." <>.

United States. National Human Genome Research Institute. "Frequently Asked Questions About Genetic Disorders." <>.