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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 blood clotting. … 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 …
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 … the doctor because of infertility. Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, …
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 … Researchers at the National Human Genome Research … implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), …
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 … problems (35 percent). Two genes - COMT and TBX1 - are associated with VCFS. However, not all of the genes that …
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 is often subdivided into three types, each with associated symptoms. Type 1: The affected eye, or eyes, has … based on clinical findings. Mutations in the CHN1 gene are associated with familial isolated Duane syndrome. Direct …
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 …
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, … or abnormalities that tend to occur together and are associated with a specific disease. … Educational Resources …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Down syndrome is a chromosomal condition related to chromosome 21. … 800 to 1 in 1000 live born infants. … 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 …
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 … are usually unaffected and are at risk for fragile X-associated tremor/ataxia syndrome (FXTAS). The fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by …