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Genetic Disorders

Summary

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

  • Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
  • Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
  • Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

Start Here

  • Genetic and Rare Diseases Information Center From the National Institutes of Health
  • Genetic Disorders From the National Institutes of Health (National Human Genome Research Institute)
  • Genetics From the National Institutes of Health (National Institute of General Medical Sciences) Also in Spanish
  • Genetics: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine) Also in Spanish

Diagnosis and Tests

Treatments and Therapies

Living With

  • Physical Therapy and Occupational Therapy in Progeria (Progeria Research Foundation, Inc.) - PDF

Specifics

  • About Poland Anomaly From the National Institutes of Health (National Human Genome Research Institute)
  • About Progeria From the National Institutes of Health (National Human Genome Research Institute)
  • Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) -- Pediatric (American College of Rheumatology) Also in Spanish
  • Frequently Asked Questions about Genetic Disorders From the National Institutes of Health (National Human Genome Research Institute)
  • Genetic and Chromosomal Conditions Video (March of Dimes Foundation) Also in Spanish
  • Genetics: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine) Also in Spanish
  • Learning about an Undiagosed Condition in an Adult From the National Institutes of Health (National Human Genome Research Institute)
  • Noonan Syndrome: Symptoms and Causes (Mayo Foundation for Medical Education and Research)
  • Triple X Syndrome: Symptoms and Causes (Mayo Foundation for Medical Education and Research) Also in Spanish
  • Williams Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)

Genetics

Statistics and Research

  • All about the Human Genome Project (HGP) From the National Institutes of Health (National Human Genome Research Institute)
  • NIH Researchers Discover a New Inflammatory Disease Called VEXAS From the National Institutes of Health (National Institute of Arthritis and Musculoskeletal and Skin Diseases)

Clinical Trials

  • ClinicalTrials.gov: Genetic Diseases, Inborn From the National Institutes of Health (National Institutes of Health)
  • ClinicalTrials.gov: Progeria From the National Institutes of Health (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

  • Article: Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases.
  • Article: Use of gonadotropin-releasing hormone (GnRH) agonist trigger in fertility preservation for...
  • Article: 2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.
  • Genetic Disorders -- see more articles

Reference Desk

  • Chromosome Abnormalities From the National Institutes of Health (National Human Genome Research Institute)
  • Genetic Testing Registry From the National Institutes of Health (National Center for Biotechnology Information)
  • Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute) Also in Spanish

Find an Expert

  • Centers for Disease Control and Prevention Also in Spanish
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development From the National Institutes of Health Also in Spanish
  • Genetic Alliance
  • Genetic and Rare Diseases Information Center From the National Institutes of Health
  • National Human Genome Research Institute From the National Institutes of Health
  • National Institute of Neurological Disorders and Stroke From the National Institutes of Health Also in Spanish

Children

  • All about Genetics (For Parents) (Nemours Foundation) Also in Spanish
  • Campomelic Dysplasia (For Parents) (Nemours Foundation)
  • Cartilage Hair Hypoplasia (For Parents) (Nemours Foundation)
  • CLOVES Syndrome (For Parents) (Nemours Foundation) Also in Spanish
  • Ellis-Van Creveld Dysplasia (For Parents) (Nemours Foundation)
  • Gene Changes (Mutations) (Nemours Foundation) Also in Spanish
  • Learning about an Undiagosed Condition in a Child From the National Institutes of Health (National Human Genome Research Institute)
  • Multiple Epiphyseal Dysplasia (For Parents) (Nemours Foundation)
  • What Is a Gene? (For Kids) (Nemours Foundation) Also in Spanish
  • What Is a Pediatric Geneticist? (American Academy of Pediatrics) Also in Spanish

Teenagers

  • Basics on Genes and Genetic Disorders (Nemours Foundation) Also in Spanish

Women

  • Genetic Disorders (Pregnancy) (American College of Obstetricians and Gynecologists)

Patient Handouts

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

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