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

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Genetics

• 10q26 deletion syndrome: MedlinePlus Genetics National Library of Medicine

Specifics

• About Poland Anomaly National Human Genome Research Institute
• About Progeria National Human Genome Research Institute
• Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) American College of Rheumatology
• Frequently Asked Questions about Genetic Disorders National Human Genome Research Institute
• Genetic and Chromosomal Conditions March of Dimes Foundation
• Infantile Neuroaxonal Dystrophy National Institute of Neurological Disorders and Stroke
• Learning about an Undiagosed Condition in an Adult 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
• Williams Syndrome National Institute of Neurological Disorders and Stroke

Children

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

Statistics and Research

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

Encyclopedia

• Alstrom syndrome Medical Encyclopedia
• Beriberi Medical Encyclopedia
• Cystinuria Medical Encyclopedia
• Hereditary elliptocytosis Medical Encyclopedia
• Hereditary ovalocytosis Medical Encyclopedia
• Karyotyping Medical Encyclopedia
• Lipase test Medical Encyclopedia
• Mosaicism Medical Encyclopedia
• Multiple lentigines syndrome Medical Encyclopedia
• Nevoid basal cell carcinoma syndrome Medical Encyclopedia
• Noonan syndrome Medical Encyclopedia
• Peutz-Jeghers syndrome Medical Encyclopedia
• Progeria Medical Encyclopedia
• Williams syndrome Medical Encyclopedia

Teenagers

• Basics on Genes and Genetic Disorders Nemours Foundation

Find an Expert

• Centers for Disease Control and Prevention Centers for Disease Control and Prevention
• Eunice Kennedy Shriver National Institute of Child Health and Human Development Eunice Kennedy Shriver National Institute of Child Health and Human Development
• Genetic Alliance Genetic Alliance
• National Human Genome Research Institute National Human Genome Research Institute
• National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke

Reference Desk

• Chromosome Abnormalities National Human Genome Research Institute
• Genetic Testing Registry National Center for Biotechnology Information
• Talking Glossary of Genetic Terms National Human Genome Research Institute

Clinical Trials

• ClinicalTrials.gov: Genetic Diseases, Inborn National Institutes of Health
• ClinicalTrials.gov: Progeria National Institutes of Health

Start Here

• Genetic and Rare Diseases Information Center Genetic and Rare Diseases Information Center
• Genetic Disorders National Human Genome Research Institute
• Genetics National Institute of General Medical Sciences
• Genetics: MedlinePlus Genetics National Library of Medicine

Women

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

Diagnosis and Tests

• Genetic Testing: MedlinePlus Health Topic National Library of Medicine
• How are genetic conditions diagnosed?: MedlinePlus Genetics National Library of Medicine
• Newborn Screening: MedlinePlus Health Topic National Library of Medicine
• Progeria Research Foundation Diagnostic Testing Program Progeria Research Foundation, Inc.

Patient Handouts

• Genetics Medical Encyclopedia

Treatments and Therapies

• How are genetic conditions treated or managed?: MedlinePlus Genetics National Library of Medicine

Living With

• Physical Therapy and Occupational Therapy in Progeria Progeria Research Foundation, Inc.

Journal Articles

• Genetic Disorders