font size


Genetic Diseases Overview

Medical Author:
Medical Editor:

What is a genetic disease?

A genetic disease is any disease that is caused by an abnormality in an individual's genome. The 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 chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure.

What are the different types of inheritance?

There are a number of different types of genetic inheritance, including the following four modes:

Single gene inheritance

Single gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single age).

Some examples of monogenetic disorders include:

Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked.

Medically Reviewed by a Doctor on 1/15/2014

Patient Comments

Viewers share their comments

Genetic Disease - Symptoms Question: What were the symptoms of a genetic disease in you or a relative?
Genetic Disease - Screening Question: Have you been screened for a genetic disease? Please share your story.
Genetic Disease - Personal Experience Question: Is there a genetic disease in your family? Please share your experience.
Source: MedicineNet.com
http://www.medicinenet.com/genetic_disease/article.htm

Women's Health

Find out what women really need.

advertisement
advertisement
Use Pill Finder Find it Now See Interactions

Pill Identifier on RxList

  • quick, easy,
    pill identification

Find a Local Pharmacy

  • including 24 hour, pharmacies

Interaction Checker

  • Check potential drug interactions
Search the Medical Dictionary for Health Definitions & Medical Abbreviations

NIH talks about Ebola on WebMD