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Genetic Disorders
URL of this page: https://medlineplus.gov/geneticdisorders.html

Genetic Disorders

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Basics

  • Summary
  • Start Here
  • Diagnosis and Tests
  • Treatments and Therapies

Learn More

  • Living With
  • Specifics
  • Genetics

See, Play and Learn

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Research

  • Statistics and Research
  • Clinical Trials
  • Journal Articles

Resources

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  • Find an Expert

For You

  • Children
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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: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine) Also in Spanish

Diagnosis and Tests

  • Genetic Testing: MedlinePlus Health Topic From the National Institutes of Health (National Library of Medicine) Also in Spanish
  • How are genetic conditions diagnosed?: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine) Also in Spanish
  • Newborn Screening: MedlinePlus Health Topic From the National Institutes of Health (National Library of Medicine) Also in Spanish
  • Progeria Research Foundation Diagnostic Testing Program (Progeria Research Foundation, Inc.)

Treatments and Therapies

  • How are genetic conditions treated or managed?: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine) Also in Spanish

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) (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
  • Infantile Neuroaxonal Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)
  • Learning about an Undiagosed Condition in an Adult From the National Institutes of Health (National Human Genome Research Institute)
  • Noonan Syndrome (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 (Genetic and Rare Diseases Information Center) Also in Spanish

Genetics

  • 10q26 deletion syndrome: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)

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: Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost...
  • Article: Diagnostic Yield of Next-Generation Sequencing for Rare Pediatric Genetic Disorders: A...
  • Article: Genetic disease risks of under-represented founder populations in New York City.
  • Genetic Disorders -- see more articles

Reference Desk

  • Chromosome Abnormalities From the National Institutes of Health (National Human Genome Research Institute) Also in Spanish
  • 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 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

Children

  • All about Genetics (For Parents) (Nemours Foundation) Also in Spanish
  • Campomelic Dysplasia (For Parents) (Nemours Foundation) Also in Spanish
  • Cartilage Hair Hypoplasia (For Parents) (Nemours Foundation) Also in Spanish
  • CLOVES Syndrome (For Parents) (Nemours Foundation) Also in Spanish
  • Ellis-Van Creveld Dysplasia (For Parents) (Nemours Foundation) Also in Spanish
  • 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) Also in Spanish
  • What Is a Gene? (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 and Pregnancy (American College of Obstetricians and Gynecologists)

Patient Handouts

  • Genetics (Medical Encyclopedia) Also in Spanish

Topic Image

Genetic Disorders

MEDICAL ENCYCLOPEDIA

  • Alstrom syndrome
  • Beriberi
  • Cystinuria
  • Genetics
  • Hereditary elliptocytosis
  • Hereditary ovalocytosis
  • Karyotyping
  • Lipase test
  • Mosaicism
  • Nevoid basal cell carcinoma syndrome
  • Noonan syndrome
  • Noonan syndrome with multiple lentigines
  • Peutz-Jeghers syndrome
  • Progeria
  • Williams syndrome

Related Health Topics

  • Birth Defects
  • Brain Malformations
  • Celiac Disease
  • Cleft Lip and Palate
  • Cystic Fibrosis
  • Down Syndrome
  • Dwarfism
  • Fragile X Syndrome
  • Genetic Brain Disorders
  • Genetic Counseling
  • Genetic Testing
  • Hemochromatosis
  • Leukodystrophies
  • Osteogenesis Imperfecta
  • Prader-Willi Syndrome
  • Rare Diseases
  • Sickle Cell Disease

National Institutes of Health

The primary NIH organization for research on Genetic Disorders is the Eunice Kennedy Shriver National Institute of Child Health and Human Development

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

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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