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What is (are) Fabry disease ? | Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, parti... | Fabry disease |
How many people are affected by Fabry disease ? | Fabry disease affects an estimated 1 in 40,000 to 60,000 males. This disorder also occurs in females, although the prevalence is unknown. Milder, late-onset forms of the disorder are probably more common than the classic, severe form. | Fabry disease |
What are the genetic changes related to Fabry disease ? | Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosy... | Fabry disease |
Is Fabry disease inherited ? | This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the GLA gene in each cell is sufficient to cause... | Fabry disease |
What are the treatments for Fabry disease ? | These resources address the diagnosis or management of Fabry disease: - Baby's First Test - Gene Review: Gene Review: Fabry Disease - Genetic Testing Registry: Fabry disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... | Fabry disease |
What is (are) MEGDEL syndrome ? | MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L). MEGDEL syndrome is characterized by abnormally high levels of an acid, called 3-methylglutaconic acid, i... | MEGDEL syndrome |
How many people are affected by MEGDEL syndrome ? | MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 affected individuals have been mentioned in the medical literature. | MEGDEL syndrome |
What are the genetic changes related to MEGDEL syndrome ? | MEGDEL syndrome is caused by mutations in the SERAC1 gene. The function of the protein produced from this gene is not completely understood, although research suggests that it is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid known as phosphatidylglycerol. Another phosp... | MEGDEL syndrome |
Is MEGDEL syndrome 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. | MEGDEL syndrome |
What are the treatments for MEGDEL syndrome ? | These resources address the diagnosis or management of MEGDEL syndrome: - Baby's First Test: 3-Methylglutaconic Aciduria - Gene Review: Gene Review: MEGDEL Syndrome - Genetic Testing Registry: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome These resources from MedlinePlus offer ... | MEGDEL syndrome |
What is (are) DMD-associated dilated cardiomyopathy ? | DMD-associated dilated cardiomyopathy is a form of heart disease that is caused by mutations in the DMD gene. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia),... | DMD-associated dilated cardiomyopathy |
How many people are affected by DMD-associated dilated cardiomyopathy ? | DMD-associated dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown. | DMD-associated dilated cardiomyopathy |
What are the genetic changes related to DMD-associated dilated cardiomyopathy ? | DMD-associated dilated cardiomyopathy results from mutations in the DMD gene. This gene provides instructions for making a protein called dystrophin, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for DMD-associated dilated cardiomyopath... | DMD-associated dilated cardiomyopathy |
Is DMD-associated dilated cardiomyopathy inherited ? | DMD-associated dilated cardiomyopathy has an X-linked pattern of inheritance. The DMD gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell usually leads to relatively mild heart disease that ap... | DMD-associated dilated cardiomyopathy |
What are the treatments for DMD-associated dilated cardiomyopathy ? | These resources address the diagnosis or management of DMD-associated dilated cardiomyopathy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Dilated cardiomyopathy 3B - Genetic Testing Registry: Duchenne muscular dystrophy - Na... | DMD-associated dilated cardiomyopathy |
What is (are) pyruvate dehydrogenase deficiency ? | Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentia... | pyruvate dehydrogenase deficiency |
How many people are affected by pyruvate dehydrogenase deficiency ? | Pyruvate dehydrogenase deficiency is believed to be a rare condition; however, its prevalence is unknown. | pyruvate dehydrogenase deficiency |
What are the genetic changes related to pyruvate dehydrogenase deficiency ? | The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. The pyruvate... | pyruvate dehydrogenase deficiency |
Is pyruvate dehydrogenase deficiency inherited ? | Pyruvate dehydrogenase deficiency can have different inheritance patterns. When the condition is caused by mutations in the PDHA1 gene, it is inherited in an X-linked recessive pattern. The PDHA1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one... | pyruvate dehydrogenase deficiency |
What are the treatments for pyruvate dehydrogenase deficiency ? | These resources address the diagnosis or management of pyruvate dehydrogenase deficiency: - Genetic Testing Registry: Pyruvate dehydrogenase E1-beta deficiency - Genetic Testing Registry: Pyruvate dehydrogenase E2 deficiency - Genetic Testing Registry: Pyruvate dehydrogenase E3-binding protein deficiency - Genetic ... | pyruvate dehydrogenase deficiency |
What is (are) Fryns syndrome ? | Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose. Most people with Fryns syndrome hav... | Fryns syndrome |
How many people are affected by Fryns syndrome ? | The worldwide incidence of Fryns syndrome is unknown. More than 50 affected individuals have been reported in the medical literature. Studies suggest that Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital diaphragmatic hernia. | Fryns syndrome |
What are the genetic changes related to Fryns syndrome ? | The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been associated with congenital diaphragmatic hernia and some of the other feature... | Fryns syndrome |
Is Fryns syndrome inherited ? | Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not ... | Fryns syndrome |
What are the treatments for Fryns syndrome ? | These resources address the diagnosis or management of Fryns syndrome: - Children's Hospital of Philadelphia: Treatment of Congenital Diaphragmatic Hernia - Gene Review: Gene Review: Fryns Syndrome - Genetic Testing Registry: Fryns syndrome - Seattle Children's Hospital: Treatment of Congenital Diaphragmatic Hernia... | Fryns syndrome |
What is (are) Cockayne syndrome ? | Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected indi... | Cockayne syndrome |
How many people are affected by Cockayne syndrome ? | Cockayne syndrome occurs in about 2 per million newborns in the United States and Europe. | Cockayne syndrome |
What are the genetic changes related to Cockayne syndrome ? | Cockayne syndrome can result from mutations in either the ERCC6 gene (also known as the CSB gene) or the ERCC8 gene (also known as the CSA gene). These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemica... | Cockayne syndrome |
Is Cockayne syndrome 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. | Cockayne syndrome |
What are the treatments for Cockayne syndrome ? | These resources address the diagnosis or management of Cockayne syndrome: - Gene Review: Gene Review: Cockayne Syndrome - Genetic Testing Registry: Cockayne syndrome - Genetic Testing Registry: Cockayne syndrome type A - Genetic Testing Registry: Cockayne syndrome type C - Genetic Testing Registry: Cockayne syndro... | Cockayne syndrome |
What is (are) early-onset primary dystonia ? | Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), ... | early-onset primary dystonia |
How many people are affected by early-onset primary dystonia ? | Early-onset primary dystonia is among the most common forms of childhood dystonia. This disorder occurs most frequently in people of Ashkenazi (central and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in this population. The condition is less common among people with other backgrounds; it is ... | early-onset primary dystonia |
What are the genetic changes related to early-onset primary dystonia ? | A particular mutation in the TOR1A gene (also known as DYT1) is responsible for most cases of early-onset primary dystonia. The TOR1A gene provides instructions for making a protein called torsinA. Although little is known about its function, this protein may help process and transport other proteins within cells. It a... | early-onset primary dystonia |
Is early-onset primary dystonia inherited ? | Mutations in the TOR1A gene are inherited in an autosomal dominant pattern, which means one of the two copies of the gene is altered in each cell. Many people who have a mutation in this gene are not affected by the disorder and may never know they have the mutation. Only 30 to 40 percent of people who inherit a TOR1A ... | early-onset primary dystonia |
What are the treatments for early-onset primary dystonia ? | These resources address the diagnosis or management of early-onset primary dystonia: - Gene Review: Gene Review: DYT1 Early-Onset Primary Dystonia - Genetic Testing Registry: Dystonia 1 - MedlinePlus Encyclopedia: Movement - uncontrolled or slow These resources from MedlinePlus offer information about the diagnosi... | early-onset primary dystonia |
What is (are) Andersen-Tawil syndrome ? | Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long Q... | Andersen-Tawil syndrome |
How many people are affected by Andersen-Tawil syndrome ? | Andersen-Tawil syndrome is a rare genetic disorder; its incidence is unknown. About 100 people with this condition have been reported worldwide. | Andersen-Tawil syndrome |
What are the genetic changes related to Andersen-Tawil syndrome ? | Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome. The KCNJ2 gene provides instructions for making a protein that forms a channel across cell membranes. This channel transports positively charged atoms (ions) of potassium into muscle cells. The movement of potassium ions through these channels is critical for ... | Andersen-Tawil syndrome |
Is Andersen-Tawil 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 some cases, a person with Andersen-Tawil syndrome inherits the mutation from one affected parent. Other cases result from new mutations in the KCNJ2 gene. These cas... | Andersen-Tawil syndrome |
What are the treatments for Andersen-Tawil syndrome ? | These resources address the diagnosis or management of Andersen-Tawil syndrome: - Gene Review: Gene Review: Andersen-Tawil Syndrome - Genetic Testing Registry: Andersen Tawil syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te... | Andersen-Tawil syndrome |
What is (are) Gitelman syndrome ? | Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany)... | Gitelman syndrome |
How many people are affected by Gitelman syndrome ? | Gitelman syndrome affects an estimated 1 in 40,000 people worldwide. | Gitelman syndrome |
What are the genetic changes related to Gitelman syndrome ? | Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream. Mutations in either gene imp... | Gitelman syndrome |
Is Gitelman syndrome 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. | Gitelman syndrome |
What are the treatments for Gitelman syndrome ? | These resources address the diagnosis or management of Gitelman syndrome: - Genetic Testing Registry: Familial hypokalemia-hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitati... | Gitelman syndrome |
What is (are) 16p11.2 deletion syndrome ? | 16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features... | 16p11.2 deletion syndrome |
How many people are affected by 16p11.2 deletion syndrome ? | Most people tested for the 16p11.2 deletion have come to medical attention as a result of developmental delay or autistic behaviors. Other individuals with the 16p11.2 deletion have no associated health or behavioral problems, and so the deletion may never be detected. For this reason, the prevalence of this deletion i... | 16p11.2 deletion syndrome |
What are the genetic changes related to 16p11.2 deletion syndrome ? | People with 16p11.2 deletion syndrome are missing a sequence of about 600,000 DNA building blocks (base pairs), also written as 600 kilobases (kb), at position p11.2 on chromosome 16. This deletion affects one of the two copies of chromosome 16 in each cell. The 600 kb region contains more than 25 genes, and in many ca... | 16p11.2 deletion syndrome |
Is 16p11.2 deletion syndrome inherited ? | 16p11.2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy of chromosome 16 in each cell is sufficient to cause the condition. However, most cases of 16p11.2 deletion syndrome are not inherited. The deletion occurs most often as a random event during the for... | 16p11.2 deletion syndrome |
What are the treatments for 16p11.2 deletion syndrome ? | These resources address the diagnosis or management of 16p11.2 deletion syndrome: - Gene Review: Gene Review: 16p11.2 Recurrent Microdeletion - Genetic Testing Registry: 16p11.2 deletion syndrome - Genetic Testing Registry: Autism, susceptibility to, 14a These resources from MedlinePlus offer information about the... | 16p11.2 deletion syndrome |
What is (are) Sjgren syndrome ? | Sjgren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but can occur at any age. Sjgren syndrome is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the b... | Sjgren syndrome |
How many people are affected by Sjgren syndrome ? | Sjgren syndrome is a relatively common disorder; it occurs in 0.1 to 4 percent of the population. It is difficult to determine the exact prevalence because the characteristic features of this disorder, dry eyes and dry mouth, can also be caused by many other conditions. Women develop Sjgren syndrome about 10 times more... | Sjgren syndrome |
What are the genetic changes related to Sjgren syndrome ? | Sjgren syndrome is thought to result from a combination of genetic and environmental factors; however, no associations between specific genetic changes and the development of Sjgren syndrome have been confirmed. Researchers believe that variations in many genes affect the risk of developing Sjgren syndrome, but that de... | Sjgren syndrome |
Is Sjgren syndrome inherited ? | A predisposition to develop autoimmune disorders can be passed through generations in families. Relatives of people with Sjgren syndrome are at an increased risk of developing autoimmune diseases, although they are not necessarily more likely to develop Sjgren syndrome in particular. The inheritance pattern of this pre... | Sjgren syndrome |
What are the treatments for Sjgren syndrome ? | These resources address the diagnosis or management of Sjgren syndrome: - Genetic Testing Registry: Sjgren's syndrome - MedlinePlus Encyclopedia: Schirmer's Test - National Institute of Dental and Craniofacial Research: Sjgren's Syndrome Clinic - Sjgren's Syndrome Foundation: Treatments These resources from Medli... | Sjgren syndrome |
What is (are) Werner syndrome ? | Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance ... | Werner syndrome |
How many people are affected by Werner syndrome ? | Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in 40,000 people. | Werner syndrome |
What are the genetic changes related to Werner syndrome ? | Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of copying (replicating) DNA in preparation for cell division. Mutations ... | Werner syndrome |
Is Werner syndrome inherited ? | Werner syndrome is inherited in an autosomal recessive pattern, which means both copies of the WRN gene in each cell have mutations. The parents of an individual with Werner syndrome each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | Werner syndrome |
What are the treatments for Werner syndrome ? | These resources address the diagnosis or management of Werner syndrome: - Gene Review: Gene Review: Werner Syndrome - Genetic Testing Registry: Werner syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - S... | Werner syndrome |
What is (are) multiple system atrophy ? | Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. Researchers have described two major types of mult... | multiple system atrophy |
How many people are affected by multiple system atrophy ? | Multiple system atrophy has a prevalence of about 2 to 5 per 100,000 people. | multiple system atrophy |
What are the genetic changes related to multiple system atrophy ? | Multiple system atrophy is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in several genes have been studied as possible risk factors for multiple system atrophy. The only confirmed... | multiple system atrophy |
Is multiple system atrophy inherited ? | Most cases of multiple system atrophy are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. | multiple system atrophy |
What are the treatments for multiple system atrophy ? | These resources address the diagnosis or management of multiple system atrophy: - Genetic Testing Registry: Shy-Drager syndrome - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... | multiple system atrophy |
What is (are) Paget disease of bone ? | Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured). The classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to an... | Paget disease of bone |
How many people are affected by Paget disease of bone ? | Classic Paget disease of bone occurs in approximately 1 percent of people older than 40 in the United States. Scientists estimate that about 1 million people in this country have the disease. It is most common in people of western European heritage. Early-onset Paget disease of bone is much rarer. This form of the dis... | Paget disease of bone |
What are the genetic changes related to Paget disease of bone ? | A combination of genetic and environmental factors likely play a role in causing Paget disease of bone. Researchers have identified changes in several genes that increase the risk of the disorder. Other factors, including infections with certain viruses, may be involved in triggering the disease in people who are at ri... | Paget disease of bone |
Is Paget disease of bone inherited ? | In 15 to 40 percent of all cases of classic Paget disease of bone, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that having one copy of an altered gene in each cell is sufficient to cause the disorder. In the remaining cases, the inheritance pattern of classic Pag... | Paget disease of bone |
What are the treatments for Paget disease of bone ? | These resources address the diagnosis or management of Paget disease of bone: - Genetic Testing Registry: Osteitis deformans - Genetic Testing Registry: Paget disease of bone 4 - Genetic Testing Registry: Paget disease of bone, familial - MedlinePlus Encyclopedia: Paget's Disease of the Bone These resources from ... | Paget disease of bone |
What is (are) dystrophic epidermolysis bullosa ? | Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The sign... | dystrophic epidermolysis bullosa |
How many people are affected by dystrophic epidermolysis bullosa ? | Considered together, the incidence of all types of dystrophic epidermolysis bullosa is estimated to be 6.5 per million newborns in the United States. The severe autosomal recessive forms of this disorder affect fewer than 1 per million newborns. | dystrophic epidermolysis bullosa |
What are the genetic changes related to dystrophic epidermolysis bullosa ? | Mutations in the COL7A1 gene cause all three major forms of dystrophic epidermolysis bullosa. This gene provides instructions for making a protein that is used to assemble type VII collagen. Collagens are molecules that give structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout ... | dystrophic epidermolysis bullosa |
Is dystrophic epidermolysis bullosa inherited ? | The most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that both copies of the COL7A1 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the muta... | dystrophic epidermolysis bullosa |
What are the treatments for dystrophic epidermolysis bullosa ? | These resources address the diagnosis or management of dystrophic epidermolysis bullosa: - Gene Review: Gene Review: Dystrophic Epidermolysis Bullosa - Genetic Testing Registry: Dystrophic epidermolysis bullosa - Genetic Testing Registry: Generalized dominant dystrophic epidermolysis bullosa - Genetic Testing Regis... | dystrophic epidermolysis bullosa |
What is (are) Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. People with Mainzer-Saldino syndrome have chronic kidney disease that begins in childhood and gets worse over time. The rate at which the kidney disease worsens is variable, but the condition eventually le... | Mainzer-Saldino syndrome |
How many people are affected by Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is a rare disorder; its prevalence is unknown. At least 20 cases have been reported. | Mainzer-Saldino syndrome |
What are the genetic changes related to Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is usually caused by mutations in the IFT140 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that ... | Mainzer-Saldino syndrome |
Is Mainzer-Saldino syndrome 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. | Mainzer-Saldino syndrome |
What are the treatments for Mainzer-Saldino syndrome ? | These resources address the diagnosis or management of Mainzer-Saldino syndrome: - MedlinePlus Encyclopedia: Electroretinography - National Institutes of Diabetes and Digestive and Kidney Diseases: Treatment Methods for Kidney Failure in Children These resources from MedlinePlus offer information about the diagnosi... | Mainzer-Saldino syndrome |
What is (are) fibronectin glomerulopathy ? | Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease). Individuals with fibronectin glomerulopathy usually have blood and excess protein in their urine (hematuria and pr... | fibronectin glomerulopathy |
How many people are affected by fibronectin glomerulopathy ? | Fibronectin glomerulopathy is likely a rare condition, although its prevalence is unknown. At least 45 cases have been described in the scientific literature. | fibronectin glomerulopathy |
What are the genetic changes related to fibronectin glomerulopathy ? | Fibronectin glomerulopathy can be caused by mutations in the FN1 gene. The FN1 gene provides instructions for making the fibronectin-1 protein. Fibronectin-1 is involved in the continual formation of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between... | fibronectin glomerulopathy |
Is fibronectin glomerulopathy inherited ? | When fibronectin glomerulopathy is caused by mutations in the FN1 gene, it 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 some of these cases, an affected person inherits the mutation from one affected parent. Other cases resu... | fibronectin glomerulopathy |
What are the treatments for fibronectin glomerulopathy ? | These resources address the diagnosis or management of fibronectin glomerulopathy: - Genetic Testing Registry: Glomerulopathy with fibronectin deposits 2 - MedlinePlus Encyclopedia: Protein Urine Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... | fibronectin glomerulopathy |
What is (are) familial porencephaly ? | Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. T... | familial porencephaly |
How many people are affected by familial porencephaly ? | Familial porencephaly is a rare condition, although the exact prevalence is unknown. At least eight affected families have been described in the scientific literature. | familial porencephaly |
What are the genetic changes related to familial porencephaly ? | Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are... | familial porencephaly |
Is familial porencephaly 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. | familial porencephaly |
What are the treatments for familial porencephaly ? | These resources address the diagnosis or management of familial porencephaly: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Familial porencephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... | familial porencephaly |
What is (are) Stve-Wiedemann syndrome ? | Stve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvatur... | Stve-Wiedemann syndrome |
How many people are affected by Stve-Wiedemann syndrome ? | Stve-Wiedemann syndrome is a rare condition that has been found worldwide. Its prevalence is unknown. | Stve-Wiedemann syndrome |
What are the genetic changes related to Stve-Wiedemann syndrome ? | Stve-Wiedemann syndrome is usually caused by mutations in the LIFR gene. This gene provides instructions for making a protein called leukemia inhibitory factor receptor (LIFR). Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their ... | Stve-Wiedemann syndrome |
Is Stve-Wiedemann syndrome 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. | Stve-Wiedemann syndrome |
What are the treatments for Stve-Wiedemann syndrome ? | These resources address the diagnosis or management of Stve-Wiedemann syndrome: - Genetic Testing Registry: Stuve-Wiedemann syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation -... | Stve-Wiedemann syndrome |
What is (are) biotinidase deficiency ? | Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. Profound biotinidase deficien... | biotinidase deficiency |
How many people are affected by biotinidase deficiency ? | Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns | biotinidase deficiency |
What are the genetic changes related to biotinidase deficiency ? | Mutations in the BTD gene cause biotinidase deficiency. The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (u... | biotinidase deficiency |
Is biotinidase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the BTD gene in each cell have mutations. The parents of an individual with biotinidase deficiency each carry one copy of the mutated gene, but they typically do not have any health problems associated with the condition. | biotinidase deficiency |
What are the treatments for biotinidase deficiency ? | These resources address the diagnosis or management of biotinidase deficiency: - Baby's First Test - Gene Review: Gene Review: Biotinidase Deficiency - Genetic Testing Registry: Biotinidase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources from MedlinePlus offer information about ... | biotinidase deficiency |
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