Genetic Disorders

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Basics

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

Learn More

• Living With
• Specifics
• Genetics

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Research

• Statistics and Research
• Clinical Trials
• Journal Articles

Resources

• Reference Desk
• Find an Expert

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• Children
• Teenagers
• Women
• Patient Handouts

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
• Genetic Disorders (National Human Genome Research Institute)
• Genetics: MedlinePlus Genetics (National Library of Medicine) Also in Spanish

Diagnosis and Tests

• Genetic Testing: MedlinePlus Health Topic (National Library of Medicine) Also in Spanish
• How are genetic conditions diagnosed?: MedlinePlus Genetics (National Library of Medicine) Also in Spanish
• Newborn Screening: MedlinePlus Health Topic (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 (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 (National Human Genome Research Institute)
• About Progeria (National Human Genome Research Institute)
• Cryopyrin-Associated Autoinflammatory Syndromes (CAPS) (American College of Rheumatology) Also in Spanish
• Frequently Asked Questions about Genetic Disorders (National Human Genome Research Institute)
• Genetic and Chromosomal Conditions (March of Dimes Foundation) Also in Spanish
• Genetics: MedlinePlus Genetics (National Library of Medicine) Also in Spanish
• 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) Also in Spanish
• Williams Syndrome (National Institute of Neurological Disorders and Stroke)

Genetics

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

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)

Clinical Trials

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

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

• Article: Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian...
• Article: Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric...
• Article: Gene and cell therapy of human genetic diseases: Recent advances and...
• Genetic Disorders -- see more articles

Reference Desk

• Chromosome Abnormalities (National Human Genome Research Institute) Also in Spanish
• Genetic Testing Registry (National Center for Biotechnology Information)
• Talking Glossary of Genetic Terms (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 Also in Spanish
• Genetic and Rare Diseases Information Center
• National Human Genome Research Institute
• National Institute of Neurological Disorders and Stroke Also in Spanish

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 (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