Search Results

21 - 30 of 474
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 …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in … in all races. Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in … Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Each of the subtypes is based on the severity of the disorder and the age at which symptoms begin. There are three … of an individual with an autosomal recessive inherited disorder such as SMA are carriers of one copy of the altered … of the gene they do not have signs or symptoms of the disorder. Finkel type SMA is inherited in an autosomal …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 … … About Marfan Syndrome … Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 … to 20,000 individuals.​​ … Marfan Syndrome, Inherited Disorder, Connective Tissue, FBN1 Gene, Myopia, Bone …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often … trauma. … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break easily, often … mutation or an inherited genetic change, an adult with the disorder can pass the condition down to future generations. …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have … treatment. Scientists discovered that people with the disorder have an overactive version of a protein called … have been diagnosed with disabling pansclerotic morphea, a disorder first described in the medical literature around 100 …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and … have speech problems, learning disabilities, seizures and hyperactivity. Less than one percent of those affected with … defects in the NF1 gene. For NF2, doctors will pay close attention to hearing loss. Hearing tests as well as imaging …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… patients, high levels of ammonia. Without treatment, the disorder can lead to coma and death in some cases. This … conditions. A gene called MMACHC is changed in this disorder. Affected patients have increased methylmalonic acid … the altered gene but do not show signs and symptoms of the disorder. Both boys and girls are equally affected. This …
News Release
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… threatening or they can worsen the progression of their disorder,” said Peter McGuire, M.B.B.Ch. , NHGRI … Around 1 in 5,000 people worldwide have a mitochondrial disorder. Examples of mitochondrial disorders are Leigh’s … threatening or they can worsen the progression of their disorder. We wanted to understand how immune cells differ in …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… Autosomal Dominant Disorder … Autosomal dominance is a pattern of inheritance … the mutated gene (from one parent) is enough to cause the disorder. A child of a person affected by an autosomal … of a dominant allele. By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from …