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For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… only and is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change … can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) is a miswiring of the eye … Syndrome. In 70 percent of DS cases, this is the only disorder the individual has. However, other conditions and … … Duane syndrome is a rare, congenital eye movement disorder. … Duane Syndrome, DS, Eye Disorder, Congenital …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between … an idiopathic (of unknown cause), chronic inflammatory disorder of the bowel, involves any region of the … Disease … Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Achondroplasia is a disorder of bone growth. It is the most common form of … inherited? … About Achondroplasia … Achondroplasia is a disorder of bone growth and the most common form of … Disorders, FGFR3 Gene, Gene Mutation … Achondroplasia is a disorder of bone growth and the most common form of …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… Hemophilia is a bleeding disorder that slows down the blood clotting process. … People … inherited? … About Hemophilia … Hemophilia is a bleeding disorder that slows down the blood clotting process. … Hemophilia, Bleeding Disorder, Blood Clotting, Hemophilia A, Hemophilia B, Factor …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… history (how many relatives have been diagnosed with the disorder already and whether genetic testing has been … or not they have shown any signs or symptoms of the disorder is helpful in estimating the chances that they also have the disorder. We recommend talking to your metabolic specialist …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the … system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results … Tay-Sachs Disease … Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… … Sickle cell disease is the most common inherited blood disorder in the United States. Approximately 100,000 … baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have the …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… clinical profiles of people with RUNX1 familial platelet disorder. … A few years ago, Emily* discovered that she had … of a gene called RUNX1 that was associated with a platelet disorder. The pieces started to come together for Emily. … to our uncle, he said we had more relatives with the disorder.” While Emily was curious about her own status, …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood … as phenylalanine. … Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood … … About Phenylketonuria … Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood …