Explanation:
Genetic Diseases (Disorder Definition, Types, and Examples)
Medical Author: Melissa Conrad Stöppler, MD
Medical Editor: William C. Shiel Jr., MD, FACP, FACR
Medically Reviewed on 10/17/2019
Definition
Types
Single Inheritance
Multifactorial Inheritance
Chromosome Abnormalities
Mitocondrial Inheritance
Human Genome
Genetic Diseases (Disorder Definition, Types, and Examples) Center
What is a genetic disease?
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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 the 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 a number of different types of genetic disorders (inherited) and include:
Single gene inheritance
Multifactorial inheritance
Chromosome abnormalities
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
cystic fibrosis,
alpha- and beta-thalassemias,
sickle cell anemia (sickle cell disease),
Marfan syndrome,
fragile X syndrome,
Huntington's disease, and
hemochromatosis.
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