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Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of … Factor V Leiden is the name of a specific mutation (genetic … abnormal blood clots in blood vessels. People who have the factor V Leiden mutation are at somewhat higher than average … and lodges in the lungs (pulmonary embolism, or PE). Factor V Leiden is the most common inherited form of …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … Velocardiofacial syndrome (VCFS) is a genetic condition that is sometimes … problems (35 percent). Two genes - COMT and TBX1 - are associated with VCFS. However, not all of the genes that …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Klinefelter syndrome is a condition that occurs in men as a result of an … Klinefelter syndrome is a condition that occurs in men as a result of an … characteristics of their gender. Most often, Klinefelter syndrome is the result of one extra X (written as XXY). …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… new discovery involves a protein called a transcription factor - a molecular switch that turns a gene or a cascade of … the researchers demonstrated that a transcription factor known as TCF1 (for T cell factor-1) is essential for the creation and persistence of …
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 muscles, causing some … Other names for this condition include: Duane's Retraction Syndrome (or DR syndrome), Eye Retraction Syndrome, Retraction Syndrome, …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… Study shows mutations in inflammation-related genes are associated with PFAPA syndrome … implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), … group looked into whether the gene variants known to be associated with those diseases were also present in people …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Syndrome … A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in … information of diverse people with Williams-Beuren Syndrome to the atlas , healthcare providers will better … with full lips. The most significant medical problems associated with the syndrome are a narrowing of the large …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Down syndrome is a chromosomal condition related to chromosome 21. … People who have Down syndrome have learning difficulties, mental disability, a … muscle tone (hypotonia) in infancy. Individuals with Down syndrome also have an increased risk for having heart … disease, and hearing loss. Some people who have Down syndrome have low activity of the thyroid gland …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by a … Fragile X syndrome is the most common form of inherited intellectual … racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 … from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 …