qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
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genetic changes | What are the genetic changes related to Pfeiffer syndrome ? | Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 o... |
inheritance | Is Pfeiffer syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Pfeiffer syndrome ? | These resources address the diagnosis or management of Pfeiffer syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Pfeiffer syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Webbing of fingers or toes These resources from Medli... |
information | What is (are) beta-ketothiolase deficiency ? | Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. The signs and symptoms of beta-ketothi... |
frequency | How many people are affected by beta-ketothiolase deficiency ? | Beta-ketothiolase deficiency appears to be very rare. It is estimated to affect fewer than 1 in 1 million newborns. |
genetic changes | What are the genetic changes related to beta-ketothiolase deficiency ? | Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, the ACAT1 enzyme helps proce... |
inheritance | Is beta-ketothiolase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for beta-ketothiolase deficiency ? | These resources address the diagnosis or management of beta-ketothiolase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of acetyl-CoA acetyltransferase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D... |
information | What is (are) familial thoracic aortic aneurysm and dissection ? | Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because... |
frequency | How many people are affected by familial thoracic aortic aneurysm and dissection ? | Familial TAAD is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that are not inherited, such as damage to the walls of the aorta from aging, tobacco use, injury, or disease. While aortic aneurysm... |
genetic changes | What are the genetic changes related to familial thoracic aortic aneurysm and dissection ? | Mutations in any of several genes are associated with familial TAAD. Mutations in the ACTA2 gene have been identified in 14 to 20 percent of people with this disorder, and TGFBR2 gene mutations have been found in 2.5 percent of affected individuals. Mutations in several other genes account for smaller percentages of ca... |
inheritance | Is familial thoracic aortic aneurysm and dissection inherited ? | Familial TAAD is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell can be sufficient to cause the condition. In most cases, an affected person has one affected parent. However, some people who inherit an altered gene never develop the aortic abnormalities associated with t... |
treatment | What are the treatments for familial thoracic aortic aneurysm and dissection ? | These resources address the diagnosis or management of familial TAAD: - Gene Review: Gene Review: Thoracic Aortic Aneurysms and Aortic Dissections - Genetic Testing Registry: Aortic aneurysm, familial thoracic 2 - Genetic Testing Registry: Aortic aneurysm, familial thoracic 4 - Genetic Testing Registry: Aortic aneu... |
information | What is (are) familial lipoprotein lipase deficiency ? | Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. ... |
frequency | How many people are affected by familial lipoprotein lipase deficiency ? | This condition affects about 1 per million people worldwide. It is much more common in certain areas of the province of Quebec, Canada. |
genetic changes | What are the genetic changes related to familial lipoprotein lipase deficiency ? | Mutations in the LPL gene cause familial lipoprotein lipase deficiency. The LPL gene provides instructions for producing an enzyme called lipoprotein lipase, which is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and fatty (adipose) tissue. This enzyme helps break dow... |
inheritance | Is familial lipoprotein lipase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Researchers spe... |
treatment | What are the treatments for familial lipoprotein lipase deficiency ? | These resources address the diagnosis or management of familial lipoprotein lipase deficiency: - Gene Review: Gene Review: Familial Lipoprotein Lipase Deficiency - Genetic Testing Registry: Hyperlipoproteinemia, type I - MedlinePlus Encyclopedia: Chylomicronemia Syndrome - MedlinePlus Encyclopedia: Familial Lipopro... |
information | What is (are) neuropathy, ataxia, and retinitis pigmentosa ? | Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and pro... |
frequency | How many people are affected by neuropathy, ataxia, and retinitis pigmentosa ? | The prevalence of NARP is unknown. This disorder is probably less common than a similar but more severe condition, Leigh syndrome, which affects about 1 in 40,000 people. |
genetic changes | What are the genetic changes related to neuropathy, ataxia, and retinitis pigmentosa ? | NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small am... |
inheritance | Is neuropathy, ataxia, and retinitis pigmentosa inherited ? | This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutatio... |
treatment | What are the treatments for neuropathy, ataxia, and retinitis pigmentosa ? | These resources address the diagnosis or management of NARP: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Neuropathy ataxia retinitis pigmentosa syndrome - MedlinePlus Encyclopedia: Retinitis... |
information | What is (are) familial encephalopathy with neuroserpin inclusion bodies ? | Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating.... |
frequency | How many people are affected by familial encephalopathy with neuroserpin inclusion bodies ? | This condition appears to be rare; only a few affected individuals have been reported worldwide. |
genetic changes | What are the genetic changes related to familial encephalopathy with neuroserpin inclusion bodies ? | FENIB results from mutations in the SERPINI1 gene. This gene provides instructions for making a protein called neuroserpin, which is found in nerve cells (neurons). Neuroserpin plays a role in the development and function of the nervous system. This protein helps control the growth of neurons and their connections with... |
inheritance | Is familial encephalopathy with neuroserpin inclusion bodies inherited ? | FENIB is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent with the condition. |
treatment | What are the treatments for familial encephalopathy with neuroserpin inclusion bodies ? | These resources address the diagnosis or management of FENIB: - Genetic Testing Registry: Familial encephalopathy with neuroserpin inclusion bodies - MedlinePlus Encyclopedia: Dementia - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of vari... |
information | What is (are) dentinogenesis imperfecta ? | Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and p... |
frequency | How many people are affected by dentinogenesis imperfecta ? | Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people. |
genetic changes | What are the genetic changes related to dentinogenesis imperfecta ? | Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes ... |
inheritance | Is dentinogenesis imperfecta inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. |
treatment | What are the treatments for dentinogenesis imperfecta ? | These resources address the diagnosis or management of dentinogenesis imperfecta: - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type II - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type III - MedlinePlus Encyclopedia: Tooth - abnormal colors These resources from MedlinePlus o... |
information | What is (are) vitiligo ? | Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting ... |
frequency | How many people are affected by vitiligo ? | Vitiligo is a common disorder, affecting between 0.5 percent and 1 percent of the population worldwide. While the condition may be more noticeable in dark-skinned people, it occurs with similar frequency in all ethnic groups. |
genetic changes | What are the genetic changes related to vitiligo ? | Variations in over 30 genes, occurring in different combinations, have been associated with an increased risk of developing vitiligo. Two of these genes are NLRP1 and PTPN22. The NLRP1 gene provides instructions for making a protein that is involved in the immune system, helping to regulate the process of inflammation.... |
inheritance | Is vitiligo inherited ? | Vitiligo sometimes runs in families, but the inheritance pattern is complex since multiple causative factors are involved. About one-fifth of people with this condition have at least one close relative who is also affected. |
treatment | What are the treatments for vitiligo ? | These resources address the diagnosis or management of vitiligo: - Genetic Testing Registry: Vitiligo - Vitiligo Support International: Vitiligo Treatments and Research These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... |
information | What is (are) dihydropyrimidine dehydrogenase deficiency ? | Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others. In people with severe dihydropyrimidine dehydrogenase deficiency, the disorder becomes apparent in infancy. These affected individuals h... |
frequency | How many people are affected by dihydropyrimidine dehydrogenase deficiency ? | Severe dihydropyrimidine dehydrogenase deficiency, with its early-onset neurological symptoms, is a rare disorder. Its prevalence is unknown. However, between 2 and 8 percent of the general population may be vulnerable to toxic reactions to fluoropyrimidine drugs caused by otherwise asymptomatic dihydropyrimidine dehyd... |
genetic changes | What are the genetic changes related to dihydropyrimidine dehydrogenase deficiency ? | Dihydropyrimidine dehydrogenase deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase, which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are pyrimidines, which are one type of nucleotide... |
inheritance | Is dihydropyrimidine dehydrogenase deficiency inherited ? | Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Depending on the severity of these mutations, people with two mutated copies of the DPYD gene in each cell may exhibit the signs and symptoms of this disorder, or t... |
treatment | What are the treatments for dihydropyrimidine dehydrogenase deficiency ? | These resources address the diagnosis or management of dihydropyrimidine dehydrogenase deficiency: - Genetic Testing Registry: Dihydropyrimidine dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... |
information | What is (are) Frasier syndrome ? | Frasier syndrome is a condition that affects the kidneys and genitalia. Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in ... |
frequency | How many people are affected by Frasier syndrome ? | Frasier syndrome is thought to be a rare condition; approximately 50 cases have been described in the scientific literature. |
genetic changes | What are the genetic changes related to Frasier syndrome ? | Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the devel... |
inheritance | Is Frasier syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Frasier syndrome ? | These resources address the diagnosis or management of Frasier syndrome: - Genetic Testing Registry: Frasier syndrome - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management o... |
information | What is (are) hyperlysinemia ? | Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysi... |
frequency | How many people are affected by hyperlysinemia ? | The incidence of hyperlysinemia is unknown. |
genetic changes | What are the genetic changes related to hyperlysinemia ? | Mutations in the AASS gene cause hyperlysinemia. The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. This enzyme performs two functions in the breakdown of lysine. First, the enzyme breaks down lysine to a molecule called saccharopine. It then breaks down saccharopine to a... |
inheritance | Is hyperlysinemia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for hyperlysinemia ? | These resources address the diagnosis or management of hyperlysinemia: - Genetic Testing Registry: Hyperlysinemia - Genetic Testing Registry: Saccharopinuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Sur... |
information | What is (are) Zellweger spectrum disorder ? | Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are n... |
frequency | How many people are affected by Zellweger spectrum disorder ? | Zellweger spectrum disorder is estimated to occur in 1 in 50,000 individuals. |
genetic changes | What are the genetic changes related to Zellweger spectrum disorder ? | Mutations in at least 12 genes have been found to cause Zellweger spectrum disorder. These genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain e... |
inheritance | Is Zellweger spectrum disorder inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Zellweger spectrum disorder ? | These resources address the diagnosis or management of Zellweger spectrum disorder: - Gene Review: Gene Review: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum - Genetic Testing Registry: Infantile Refsum's disease - Genetic Testing Registry: Neonatal adrenoleucodystrophy - Genetic Testing Registry: Pe... |
information | What is (are) Swyer syndrome ? | Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes,... |
frequency | How many people are affected by Swyer syndrome ? | Swyer syndrome occurs in approximately 1 in 80,000 people. |
genetic changes | What are the genetic changes related to Swyer syndrome ? | Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome. The SRY gene, located on the Y chromosome, provides instructions for making the sex-determining region Y protein. This protein is a transcription factor, which means it attaches (binds) to specific regions of ... |
inheritance | Is Swyer syndrome inherited ? | Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases result either from nongenetic causes or from new (de novo) mutations in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. SRY-... |
treatment | What are the treatments for Swyer syndrome ? | These resources address the diagnosis or management of Swyer syndrome: - Gene Review: Gene Review: 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis - Genetic Testing Registry: Pure gonadal dysgenesis 46,XY - MedlinePlus Encyclopedia: Intersex - University College London Hospitals: Disorders o... |
information | What is (are) spastic paraplegia type 11 ? | Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and... |
frequency | How many people are affected by spastic paraplegia type 11 ? | Over 100 cases of spastic paraplegia type 11 have been reported. Although this condition is thought to be rare, its exact prevalence is unknown. |
genetic changes | What are the genetic changes related to spastic paraplegia type 11 ? | Mutations in the SPG11 gene cause spastic paraplegia type 11. The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that spatacsin may be involved in the maintenance of axons, wh... |
inheritance | Is spastic paraplegia type 11 inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for spastic paraplegia type 11 ? | These resources address the diagnosis or management of spastic paraplegia type 11: - Gene Review: Gene Review: Spastic Paraplegia 11 - Genetic Testing Registry: Spastic paraplegia 11, autosomal recessive - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer informat... |
information | What is (are) paroxysmal extreme pain disorder ? | Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last secon... |
frequency | How many people are affected by paroxysmal extreme pain disorder ? | Paroxysmal extreme pain disorder is a rare condition; approximately 80 affected individuals have been described in the scientific literature. |
genetic changes | What are the genetic changes related to paroxysmal extreme pain disorder ? | Mutations in the SCN9A gene cause paroxysmal extreme pain disorder. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and t... |
inheritance | Is paroxysmal extreme pain disorder inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for paroxysmal extreme pain disorder ? | These resources address the diagnosis or management of paroxysmal extreme pain disorder: - Genetic Testing Registry: Paroxysmal extreme pain disorder These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... |
information | What is (are) multicentric osteolysis, nodulosis, and arthropathy ? | Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called ... |
frequency | How many people are affected by multicentric osteolysis, nodulosis, and arthropathy ? | MONA is rare; its prevalence is unknown. This condition has been reported in multiple populations worldwide. |
genetic changes | What are the genetic changes related to multicentric osteolysis, nodulosis, and arthropathy ? | MONA results from mutations in the MMP2 gene. This gene provides instructions for making an enzyme called matrix metallopeptidase 2, whose primary function is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures ... |
inheritance | Is multicentric osteolysis, nodulosis, and arthropathy inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for multicentric osteolysis, nodulosis, and arthropathy ? | These resources address the diagnosis or management of MONA: - Genetic Testing Registry: Multicentric osteolysis, nodulosis and arthropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilita... |
information | What is (are) histidinemia ? | Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated hist... |
frequency | How many people are affected by histidinemia ? | Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people. |
genetic changes | What are the genetic changes related to histidinemia ? | Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver and the skin. HAL gene mutations lead to the production of a histidase enzym... |
inheritance | Is histidinemia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for histidinemia ? | These resources address the diagnosis or management of histidinemia: - Genetic Testing Registry: Histidinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling -... |
information | What is (are) myotonia congenita ? | Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the ... |
frequency | How many people are affected by myotonia congenita ? | Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. This condition is more common in northern Scandinavia, where it occurs in approximately 1 in 10,000 people. |
genetic changes | What are the genetic changes related to myotonia congenita ? | Mutations in the CLCN1 gene cause myotonia congenita. The CLCN1 gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are ... |
inheritance | Is myotonia congenita inherited ? | The two forms of myotonia congenita have different patterns of inheritance. Thomsen disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Becker disease is in... |
treatment | What are the treatments for myotonia congenita ? | These resources address the diagnosis or management of myotonia congenita: - Gene Review: Gene Review: Myotonia Congenita - Genetic Testing Registry: Congenital myotonia, autosomal dominant form - Genetic Testing Registry: Congenital myotonia, autosomal recessive form - Genetic Testing Registry: Myotonia congenita ... |
information | What is (are) glutaric acidemia type II ? | Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis). Glutaric acidemia type II usually ap... |
frequency | How many people are affected by glutaric acidemia type II ? | Glutaric acidemia type II is a very rare disorder; its precise incidence is unknown. It has been reported in several different ethnic groups. |
genetic changes | What are the genetic changes related to glutaric acidemia type II ? | Mutations in any of three genes, ETFA, ETFB, and ETFDH, can result in glutaric acidemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. The ETFDH gene provides instructions for making anoth... |
inheritance | Is glutaric acidemia type II inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for glutaric acidemia type II ? | These resources address the diagnosis or management of glutaric acidemia type II: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surge... |
information | What is (are) atelosteogenesis type 2 ? | Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an i... |
frequency | How many people are affected by atelosteogenesis type 2 ? | Atelosteogenesis type 2 is an extremely rare genetic disorder; its incidence is unknown. |
genetic changes | What are the genetic changes related to atelosteogenesis type 2 ? | Atelosteogenesis type 2 is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton du... |
inheritance | Is atelosteogenesis type 2 inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for atelosteogenesis type 2 ? | These resources address the diagnosis or management of atelosteogenesis type 2: - Gene Review: Gene Review: Atelosteogenesis Type 2 - Genetic Testing Registry: Atelosteogenesis type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te... |
information | What is (are) mevalonate kinase deficiency ? | Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 t... |
frequency | How many people are affected by mevalonate kinase deficiency ? | More than 200 people with mevalonate kinase deficiency have been reported worldwide; the majority of these individuals have HIDS. |
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