problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) Tourette syndrome ? | Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. Tourette syndrome involves both mot... | Tourette syndrome |
How many people are affected by Tourette syndrome ? | Although the exact incidence of Tourette syndrome is uncertain, it is estimated to affect 1 to 10 in 1,000 children. This disorder occurs in populations and ethnic groups worldwide, and it is more common in males than in females. | Tourette syndrome |
What are the genetic changes related to Tourette syndrome ? | A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. Most of these factors are unknown, and researchers are studying risk factors before and after birth that may contribute to this complex disorder. Scientists believe that tics may result from changes in brain chemicals (neuro... | Tourette syndrome |
Is Tourette syndrome inherited ? | The inheritance pattern of Tourette syndrome is unclear. Although the features of this condition can cluster in families, many genetic and environmental factors are likely to be involved. Among family members of an affected person, it is difficult to predict who else may be at risk of developing the condition. Tourett... | Tourette syndrome |
What are the treatments for Tourette syndrome ? | These resources address the diagnosis or management of Tourette syndrome: - Gene Review: Gene Review: Tourette Disorder Overview - Genetic Testing Registry: Tourette Syndrome - MedlinePlus Encyclopedia: Gilles de la Tourette syndrome These resources from MedlinePlus offer information about the diagnosis and manage... | Tourette syndrome |
What is (are) Buschke-Ollendorff syndrome ? | Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis. Connective t... | Buschke-Ollendorff syndrome |
How many people are affected by Buschke-Ollendorff syndrome ? | Buschke-Ollendorff syndrome has an estimated incidence of 1 in 20,000 people worldwide. | Buschke-Ollendorff syndrome |
What are the genetic changes related to Buschke-Ollendorff syndrome ? | Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-) pathways. These signaling pathways regulate various... | Buschke-Ollendorff syndrome |
Is Buschke-Ollendorff 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. In many cases, an affected person has a parent and other family members with the condition. While most people with Buschke-Ollendorff syndrome have both connective tis... | Buschke-Ollendorff syndrome |
What are the treatments for Buschke-Ollendorff syndrome ? | These resources address the diagnosis or management of Buschke-Ollendorff syndrome: - Genetic Testing Registry: Dermatofibrosis lenticularis disseminata These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery a... | Buschke-Ollendorff syndrome |
What is (are) paramyotonia congenita ? | Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears... | paramyotonia congenita |
How many people are affected by paramyotonia congenita ? | Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people. | paramyotonia congenita |
What are the genetic changes related to paramyotonia congenita ? | Mutations in the SCN4A gene cause paramyotonia congenita. This 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 contractions are triggered by the... | paramyotonia congenita |
Is paramyotonia congenita 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 many cases, an affected person has one parent with the condition. | paramyotonia congenita |
What are the treatments for paramyotonia congenita ? | These resources address the diagnosis or management of paramyotonia congenita: - Genetic Testing Registry: Paramyotonia congenita of von Eulenburg - Periodic Paralysis International: How is Periodic Paralysis Diagnosed? These resources from MedlinePlus offer information about the diagnosis and management of various... | paramyotonia congenita |
What is (are) cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding t... | cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
How many people are affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | CADASIL is likely a rare condition; however, its prevalence is unknown. | cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
What are the genetic changes related to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | Mutations in the NOTCH3 gene cause CADASIL. The NOTCH3 gene provides instructions for producing the Notch3 receptor protein, which is important for the normal function and survival of vascular smooth muscle cells. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the... | cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
Is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A few rare cases may result from new mutations in the NOTCH3 gene. These case... | cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
What are the treatments for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | These resources address the diagnosis or management of CADASIL: - Butler Hospital: Treatment and Management of CADASIL - Gene Review: Gene Review: CADASIL - Genetic Testing Registry: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - MedlinePlus Encyclopedia: Multi-Infarct ... | cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
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... | dihydropyrimidine dehydrogenase deficiency |
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... | dihydropyrimidine dehydrogenase deficiency |
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... | dihydropyrimidine dehydrogenase deficiency |
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... | dihydropyrimidine dehydrogenase deficiency |
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... | dihydropyrimidine dehydrogenase deficiency |
What is (are) acromicric dysplasia ? | Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features. Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches f... | acromicric dysplasia |
How many people are affected by acromicric dysplasia ? | Acromicric dysplasia is a rare disorder; its prevalence is unknown. | acromicric dysplasia |
What are the genetic changes related to acromicric dysplasia ? | Acromicric dysplasia is caused by mutations in the FBN1 gene, which provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In this m... | acromicric dysplasia |
Is acromicric dysplasia inherited ? | Acromicric dysplasia is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutati... | acromicric dysplasia |
What are the treatments for acromicric dysplasia ? | These resources address the diagnosis or management of acromicric dysplasia: - Genetic Testing Registry: Acromicric dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti... | acromicric dysplasia |
What is (are) cranioectodermal dysplasia ? | Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individu... | cranioectodermal dysplasia |
How many people are affected by cranioectodermal dysplasia ? | Cranioectodermal dysplasia is a rare condition with an unknown prevalence. Approximately 40 cases of this condition have been described in the medical literature. | cranioectodermal dysplasia |
What are the genetic changes related to cranioectodermal dysplasia ? | Cranioectodermal dysplasia is caused by mutations in one of at least four genes: the WDR35, IFT122, WDR19, or IFT43 gene. The protein produced from each of these genes is one piece (subunit) of a protein complex called IFT complex A (IFT-A). This complex is found in finger-like structures called cilia that stick out fr... | cranioectodermal dysplasia |
Is cranioectodermal dysplasia 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. | cranioectodermal dysplasia |
What are the treatments for cranioectodermal dysplasia ? | These resources address the diagnosis or management of cranioectodermal dysplasia: - Gene Review: Gene Review: Cranioectodermal Dysplasia - Genetic Testing Registry: Cranioectodermal dysplasia 1 - Genetic Testing Registry: Cranioectodermal dysplasia 2 - Genetic Testing Registry: Cranioectodermal dysplasia 3 - Gene... | cranioectodermal dysplasia |
What is (are) short-chain acyl-CoA dehydrogenase deficiency ? | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting). Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycem... | short-chain acyl-CoA dehydrogenase deficiency |
How many people are affected by short-chain acyl-CoA dehydrogenase deficiency ? | This disorder is thought to affect approximately 1 in 35,000 to 50,000 newborns. | short-chain acyl-CoA dehydrogenase deficiency |
What are the genetic changes related to short-chain acyl-CoA dehydrogenase deficiency ? | Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids. Fatty acids are a major source of energy for the heart and muscles. During perio... | short-chain acyl-CoA dehydrogenase deficiency |
Is short-chain acyl-CoA dehydrogenase 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. | short-chain acyl-CoA dehydrogenase deficiency |
What are the treatments for short-chain acyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of SCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Short-Chain Acyl-CoA Dehydrogenase Deficiency - Genetic Testing Registry: Deficiency of butyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Newborn Screening Tests These resources from Medline... | short-chain acyl-CoA dehydrogenase deficiency |
What is (are) Klinefelter syndrome ? | Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals. Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual developm... | Klinefelter syndrome |
How many people are affected by Klinefelter syndrome ? | Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Additionall... | Klinefelter syndrome |
What are the genetic changes related to Klinefelter syndrome ? | Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People typically have two sex chromosomes in each cell: females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, Klinefelter syndrome results from the presence of one extra copy of... | Klinefelter syndrome |
Is Klinefelter syndrome inherited ? | Klinefelter syndrome and its variants are not inherited; these chromosomal changes usually occur as random events during the formation of reproductive cells (eggs and sperm) in a parent. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, a... | Klinefelter syndrome |
What are the treatments for Klinefelter syndrome ? | These resources address the diagnosis or management of Klinefelter syndrome: - Genetic Testing Registry: Klinefelter's syndrome, XXY - MedlinePlus Encyclopedia: Klinefelter Syndrome - MedlinePlus Encyclopedia: Testicular Failure These resources from MedlinePlus offer information about the diagnosis and management ... | Klinefelter syndrome |
What is (are) fumarase deficiency ? | Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failur... | fumarase deficiency |
How many people are affected by fumarase deficiency ? | Fumarase deficiency is a very rare disorder. Approximately 100 affected individuals have been reported worldwide. Several were born in an isolated religious community in the southwestern United States. | fumarase deficiency |
What are the genetic changes related to fumarase deficiency ? | The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called... | fumarase deficiency |
Is fumarase 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. | fumarase deficiency |
What are the treatments for fumarase deficiency ? | These resources address the diagnosis or management of fumarase deficiency: - Gene Review: Gene Review: Fumarate Hydratase Deficiency - Genetic Testing Registry: Fumarase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test... | fumarase deficiency |
What is (are) phosphoglycerate dehydrogenase deficiency ? | Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been de... | phosphoglycerate dehydrogenase deficiency |
How many people are affected by phosphoglycerate dehydrogenase deficiency ? | This condition is likely a rare disorder, but its prevalence is unknown. At least 15 cases have been described in the scientific literature. | phosphoglycerate dehydrogenase deficiency |
What are the genetic changes related to phosphoglycerate dehydrogenase deficiency ? | Mutations in the PHGDH gene cause phosphoglycerate dehydrogenase deficiency. The PHGDH gene provides instructions for making the parts (subunits) that make up the phosphoglycerate dehydrogenase enzyme. Four PHGDH subunits combine to form the enzyme. This enzyme is involved in the production of the protein building bloc... | phosphoglycerate dehydrogenase deficiency |
Is phosphoglycerate dehydrogenase 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. | phosphoglycerate dehydrogenase deficiency |
What are the treatments for phosphoglycerate dehydrogenase deficiency ? | These resources address the diagnosis or management of phosphoglycerate dehydrogenase deficiency: - Genetic Testing Registry: Phosphoglycerate dehydrogenase deficiency - Seattle Children's Hospital: Epilepsy Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management... | phosphoglycerate dehydrogenase deficiency |
What is (are) sitosterolemia ? | Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 ... | sitosterolemia |
How many people are affected by sitosterolemia ? | Only 80 to 100 individuals with sitosterolemia have been described in the medical literature. However, researchers believe that this condition is likely underdiagnosed because mild cases often do not come to medical attention. Studies suggest that the prevalence may be at least 1 in 50,000 people. | sitosterolemia |
What are the genetic changes related to sitosterolemia ? | Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. These genes provide instructions for making the two halves of a protein called sterolin. This protein is involved in eliminating plant sterols, which cannot be used by human cells. Sterolin is a transporter protein, which is a type of protein that moves... | sitosterolemia |
Is sitosterolemia 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. | sitosterolemia |
What are the treatments for sitosterolemia ? | These resources address the diagnosis or management of sitosterolemia: - Gene Review: Gene Review: Sitosterolemia - Genetic Testing Registry: Sitosterolemia - Massachusetts General Hospital: Lipid Metabolism These resources from MedlinePlus offer information about the diagnosis and management of various health con... | sitosterolemia |
What is (are) Menkes syndrome ? | Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features,... | Menkes syndrome |
How many people are affected by Menkes syndrome ? | The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 newborns. | Menkes syndrome |
What are the genetic changes related to Menkes syndrome ? | Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Mutations in the ATP7A gene result in poor distribu... | Menkes syndrome |
Is Menkes syndrome inherited ? | Menkes syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have ... | Menkes syndrome |
What are the treatments for Menkes syndrome ? | These resources address the diagnosis or management of Menkes syndrome: - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Genetic Testing Registry: Menkes kinky-hair syndrome - MedlinePlus Encyclopedia: Copper in diet - MedlinePlus Encyclopedia: Menkes syndrome These resources from MedlinePlu... | Menkes syndrome |
What is (are) progressive osseous heteroplasia ? | Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually move... | progressive osseous heteroplasia |
How many people are affected by progressive osseous heteroplasia ? | Progressive osseous heteroplasia is a rare condition. Its exact incidence is unknown. | progressive osseous heteroplasia |
What are the genetic changes related to progressive osseous heteroplasia ? | Progressive osseous heteroplasia is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that u... | progressive osseous heteroplasia |
Is progressive osseous heteroplasia 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. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or "turned on," in all cells. ... | progressive osseous heteroplasia |
What are the treatments for progressive osseous heteroplasia ? | These resources address the diagnosis or management of progressive osseous heteroplasia: - Genetic Testing Registry: Progressive osseous heteroplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... | progressive osseous heteroplasia |
What is (are) task-specific focal dystonia ? | Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolle... | task-specific focal dystonia |
How many people are affected by task-specific focal dystonia ? | Task-specific focal dystonia affects an estimated 7 to 69 per million people in the general population. Musician's dystonia that is severe enough to impact performance occurs in about 1 percent of musicians. | task-specific focal dystonia |
What are the genetic changes related to task-specific focal dystonia ? | The causes of task-specific focal dystonia are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the onset of symptoms in people who are at ri... | task-specific focal dystonia |
Is task-specific focal dystonia inherited ? | Most cases of task-specific focal dystonia are sporadic, which means they occur in people with no history of the condition in their family. However, at least 10 percent of affected individuals have a family history of focal dystonia. (For example, writer's cramp and musician's dystonia have been reported to occur in th... | task-specific focal dystonia |
What are the treatments for task-specific focal dystonia ? | These resources address the diagnosis or management of task-specific focal dystonia: - Dystonia Medical Research Foundation: How Is Dystonia Diagnosed? - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Focal dystonia - Merck Manual Home Hea... | task-specific focal dystonia |
What is (are) spinocerebellar ataxia type 6 ? | Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double ... | spinocerebellar ataxia type 6 |
How many people are affected by spinocerebellar ataxia type 6 ? | The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 individuals. | spinocerebellar ataxia type 6 |
What are the genetic changes related to spinocerebellar ataxia type 6 ? | Mutations in the CACNA1A gene cause SCA6. The CACNA1A gene provides instructions for making a protein that forms a part of some calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cell... | spinocerebellar ataxia type 6 |
Is spinocerebellar ataxia type 6 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. As the altered CACNA1A gene is passed down from one generation to the next, the length of the CA... | spinocerebellar ataxia type 6 |
What are the treatments for spinocerebellar ataxia type 6 ? | These resources address the diagnosis or management of SCA6: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 6 - Genetic Testing Registry: Spinocerebellar ataxia 6 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... | spinocerebellar ataxia type 6 |
What is (are) Cole disease ? | Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present ... | Cole disease |
How many people are affected by Cole disease ? | Cole disease is a rare disease; its prevalence is unknown. Only a few affected families have been described in the medical literature. | Cole disease |
What are the genetic changes related to Cole disease ? | Cole disease is caused by mutations in the ENPP1 gene. This gene provides instructions for making a protein that helps to prevent minerals, including calcium, from being deposited in body tissues where they do not belong. It also plays a role in controlling cell signaling in response to the hormone insulin, through int... | Cole disease |
Is Cole disease 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 of this disorder, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in peop... | Cole disease |
What are the treatments for Cole disease ? | These resources address the diagnosis or management of Cole disease: - Genetic Testing Registry: Cole disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling -... | Cole disease |
What is (are) pulmonary arterial hypertension ? | Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary... | pulmonary arterial hypertension |
How many people are affected by pulmonary arterial hypertension ? | In the United States, about 1,000 new cases of pulmonary arterial hypertension are diagnosed each year. This disorder is twice as common in females as in males. | pulmonary arterial hypertension |
What are the genetic changes related to pulmonary arterial hypertension ? | Mutations in the BMPR2 gene are the most common genetic cause of pulmonary arterial hypertension. This gene plays a role in regulating the number of cells in certain tissues. Researchers suggest that a mutation in this gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arte... | pulmonary arterial hypertension |
Is pulmonary arterial hypertension inherited ? | Pulmonary arterial hypertension is usually sporadic, which means it occurs in individuals with no known family history of the disorder. These non-familial cases are described as idiopathic pulmonary arterial hypertension. About 20 percent of these cases are caused by mutations in one of the genes known to be associated... | pulmonary arterial hypertension |
What are the treatments for pulmonary arterial hypertension ? | These resources address the diagnosis or management of pulmonary arterial hypertension: - Gene Review: Gene Review: Heritable Pulmonary Arterial Hypertension - Genetic Testing Registry: Primary pulmonary hypertension - Genetic Testing Registry: Primary pulmonary hypertension 2 - Genetic Testing Registry: Primary pu... | pulmonary arterial hypertension |
What is (are) platyspondylic lethal skeletal dysplasia, Torrance type ? | Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an e... | platyspondylic lethal skeletal dysplasia, Torrance type |
How many people are affected by platyspondylic lethal skeletal dysplasia, Torrance type ? | This condition is very rare; only a few affected individuals have been reported worldwide. | platyspondylic lethal skeletal dysplasia, Torrance type |
What are the genetic changes related to platyspondylic lethal skeletal dysplasia, Torrance type ? | Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in... | platyspondylic lethal skeletal dysplasia, Torrance type |
Is platyspondylic lethal skeletal dysplasia, Torrance type 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. | platyspondylic lethal skeletal dysplasia, Torrance type |
What are the treatments for platyspondylic lethal skeletal dysplasia, Torrance type ? | These resources address the diagnosis or management of platyspondylic lethal skeletal dysplasia, Torrance type: - Genetic Testing Registry: Platyspondylic lethal skeletal dysplasia Torrance type - MedlinePlus Encyclopedia: Lordosis These resources from MedlinePlus offer information about the diagnosis and managemen... | platyspondylic lethal skeletal dysplasia, Torrance type |
What is (are) PDGFRB-associated chronic eosinophilic leukemia ? | PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. Howe... | PDGFRB-associated chronic eosinophilic leukemia |
How many people are affected by PDGFRB-associated chronic eosinophilic leukemia ? | The exact prevalence of PDGFRB-associated chronic eosinophilic leukemia is unknown. For unknown reasons, males are up to nine times more likely than females to develop PDGFRB-associated chronic eosinophilic leukemia. | PDGFRB-associated chronic eosinophilic leukemia |
What are the genetic changes related to PDGFRB-associated chronic eosinophilic leukemia ? | PDGFRB-associated chronic eosinophilic leukemia is caused by genetic rearrangements that join part of the PDGFRB gene with part of another gene. At least 20 genes have been found that fuse with the PDGFRB gene to cause PDGFRB-associated chronic eosinophilic leukemia. The most common genetic abnormality in this conditio... | PDGFRB-associated chronic eosinophilic leukemia |
Is PDGFRB-associated chronic eosinophilic leukemia inherited ? | PDGFRB-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Chromosomal rearrangements that lead to a PDGFRB fusion gene are somatic mutations, which are mutations acquired during a person's lifetime and present only in certain cells. The som... | PDGFRB-associated chronic eosinophilic leukemia |
What are the treatments for PDGFRB-associated chronic eosinophilic leukemia ? | These resources address the diagnosis or management of PDGFRB-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia--Eosinophilic: Treatment - Genetic Testing Registry: Myeloproliferative disorder, chronic, with eosinophilia - MedlinePlus Encyclopedia: Eosinophil Count--Absolute - Seattle Cancer Care All... | PDGFRB-associated chronic eosinophilic leukemia |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.