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Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined tog... | What are the genetic changes related to spondylocarpotarsal synostosis syndrome ? | Mutations in the FLNB gene cause spondylocarpotarsal synostosis syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds)... |
Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined tog... | Is spondylocarpotarsal synostosis syndrome inherited ? | Spondylocarpotarsal synostosis syndrome caused by FLNB gene mutations 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 sho... |
Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined tog... | What are the treatments for spondylocarpotarsal synostosis syndrome ? | These resources address the diagnosis or management of spondylocarpotarsal synostosis syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Spondylocarpotarsal synostosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various heal... |
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colore... | What is (are) Peutz-Jeghers syndrome ? | Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-color... |
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colore... | How many people are affected by Peutz-Jeghers syndrome ? | The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 individuals. |
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colore... | What are the genetic changes related to Peutz-Jeghers syndrome ? | Mutations in the STK11 gene (also known as LKB1) cause most cases of Peutz-Jeghers syndrome. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in this gene alters the structure or function of the STK11 prote... |
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colore... | Is Peutz-Jeghers syndrome inherited ? | Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of all cases, an affected person inherits a mutation in the STK11 gene from one affected pa... |
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colore... | What are the treatments for Peutz-Jeghers syndrome ? | These resources address the diagnosis or management of Peutz-Jeghers syndrome: - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Peutz-Jeghers syndrome - MedlinePlus Encyclopedia: Peutz-Jeghers Syndrome These resources from MedlinePlus offer information about the diagnosis and manageme... |
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change ov... | What is (are) metatropic dysplasia ? | Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change ov... |
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change ov... | How many people are affected by metatropic dysplasia ? | Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature. |
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change ov... | What are the genetic changes related to metatropic dysplasia ? | Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. The channel is found in many types of cells, but little is kn... |
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change ov... | Is metatropic dysplasia inherited ? | Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. In a few reporte... |
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change ov... | What are the treatments for metatropic dysplasia ? | These resources address the diagnosis or management of metatropic dysplasia: - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Metatrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test... |
Or, try one of these pages: If you need help, see our site map or contact us. | What is (are) glycine encephalopathy ? | Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that... |
Or, try one of these pages: If you need help, see our site map or contact us. | How many people are affected by glycine encephalopathy ? | The worldwide incidence of glycine encephalopathy is unknown. Its frequency has been studied in only a few regions: this condition affects about 1 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British Columbia, Canada. |
Or, try one of these pages: If you need help, see our site map or contact us. | What are the genetic changes related to glycine encephalopathy ? | Mutations in the AMT and GLDC genes cause glycine encephalopathy. About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown. The AMT ... |
Or, try one of these pages: If you need help, see our site map or contact us. | Is glycine encephalopathy 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. |
Or, try one of these pages: If you need help, see our site map or contact us. | What are the treatments for glycine encephalopathy ? | These resources address the diagnosis or management of glycine encephalopathy: - Baby's First Test - Gene Review: Gene Review: Glycine Encephalopathy - Genetic Testing Registry: Non-ketotic hyperglycinemia These resources from MedlinePlus offer information about the diagnosis and management of various health condi... |
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more th... | What is (are) 1p36 deletion syndrome ? | 1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more th... |
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more th... | How many people are affected by 1p36 deletion syndrome ? | 1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some affected individuals are likely never diagnosed. |
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more th... | What are the genetic changes related to 1p36 deletion syndrome ? | 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. |
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more th... | Is 1p36 deletion syndrome inherited ? | Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 20 percent of people w... |
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more th... | What are the treatments for 1p36 deletion syndrome ? | These resources address the diagnosis or management of 1p36 deletion syndrome: - Gene Review: Gene Review: 1p36 Deletion Syndrome - Genetic Testing Registry: Chromosome 1p36 deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... |
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (dec... | What is (are) osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (dec... |
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (dec... | How many people are affected by osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people. |
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (dec... | What are the genetic changes related to osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is caused by mutations in the LRP5 gene. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role... |
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (dec... | Is osteoporosis-pseudoglioma syndrome inherited ? | Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 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 co... |
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (dec... | What are the treatments for osteoporosis-pseudoglioma syndrome ? | These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Oste... |
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear... | What is (are) auriculo-condylar syndrome ? | Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ea... |
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear... | How many people are affected by auriculo-condylar syndrome ? | Auriculo-condylar syndrome appears to be a rare disorder. More than two dozen affected individuals have been described in the medical literature. |
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear... | What are the genetic changes related to auriculo-condylar syndrome ? | Auriculo-condylar syndrome can be caused by mutations in either the GNAI3 or PLCB4 gene. These genes provide instructions for making proteins that are involved in chemical signaling within cells. They help transmit information from outside the cell to inside the cell, which instructs the cell to grow, divide, or take o... |
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear... | Is auriculo-condylar syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with ... |
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible). Most people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear... | What are the treatments for auriculo-condylar syndrome ? | These resources address the diagnosis or management of auriculo-condylar syndrome: - Genetic Testing Registry: Auriculocondylar syndrome 1 - Genetic Testing Registry: Auriculocondylar syndrome 2 - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears These... |
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to ... | What is (are) MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to ... |
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to ... | How many people are affected by MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is thought to be a rare condition. Approximately 30 cases have been described in the scientific literature, including seven families with Navajo neurohepatopathy. Within the Navajo Nation of the southwestern United States, Navajo neurohepatopathy is esti... |
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to ... | What are the genetic changes related to MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? | As the condition name suggests, mutations in the MPV17 gene cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The protein produced from the MPV17 gene is located in the inner membrane of cell structures called mitochondria. Mitochondria are involved in a wide variety of cellular activities, inclu... |
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to ... | Is MPV17-related hepatocerebral mitochondrial DNA depletion 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. |
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to ... | What are the treatments for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? | These resources address the diagnosis or management of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome: - Gene Review: Gene Review: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome - Genetic Testing Registry: Navajo neurohepatopathy - The United Mitochondrial Disease Foundation: Tr... |
Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, g... | What is (are) congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, g... |
Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, g... | How many people are affected by congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is probably very rare; only a few affected families have been reported in the medical literature. |
Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, g... | What are the genetic changes related to congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. In the c... |
Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, g... | Is congenital stromal corneal dystrophy 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. |
Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, g... | What are the treatments for congenital stromal corneal dystrophy ? | These resources address the diagnosis or management of congenital stromal corneal dystrophy: - Gene Review: Gene Review: Congenital Stromal Corneal Dystrophy - Genetic Testing Registry: Congenital Stromal Corneal Dystrophy - MedlinePlus Encyclopedia: Cloudy Cornea These resources from MedlinePlus offer information... |
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emp... | What is (are) primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emp... |
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emp... | How many people are affected by primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is more common in men than in women. This condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 women each year. |
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emp... | What are the genetic changes related to primary spontaneous pneumothorax ? | Mutations in the FLCN gene can cause primary spontaneous pneumothorax, although these mutations appear to be a very rare cause of this condition. The FLCN gene provides instructions for making a protein called folliculin. In the lungs, folliculin is found in the connective tissue cells that allow the lungs to contract ... |
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emp... | Is primary spontaneous pneumothorax inherited ? | When this condition is caused by mutations in the FLCN 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 most cases, a person inherits the FLCN gene mutation from an affected parent. People who have an FLCN gene mutation... |
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emp... | What are the treatments for primary spontaneous pneumothorax ? | These resources address the diagnosis or management of primary spontaneous pneumothorax: - Genetic Testing Registry: Pneumothorax, primary spontaneous - MedlinePlus Encyclopedia: Chest Tube Insertion - MedlinePlus Encyclopedia: Collapsed Lung - Merck Manual for Patients and Caregivers These resources from Medline... |
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and... | What is (are) Tietz syndrome ? | Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and... |
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and... | How many people are affected by Tietz syndrome ? | Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families have been described in the medical literature. |
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and... | What are the genetic changes related to Tietz syndrome ? | Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development, survival, and function of certain types of cells. Molecules of the MITF protein attach (bind) to each other or with other proteins that have a similar structure, creating a ... |
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and... | Is Tietz 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 most cases, an affected person has one parent with the condition. |
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and... | What are the treatments for Tietz syndrome ? | These resources address the diagnosis or management of Tietz syndrome: - Genetic Testing Registry: Tietz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling... |
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ulc... | What is (are) acatalasemia ? | Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ul... |
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ulc... | How many people are affected by acatalasemia ? | More than 100 cases of acatalasemia have been reported in the medical literature. Researchers estimate that the condition occurs in about 1 in 12,500 people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown. |
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ulc... | What are the genetic changes related to acatalasemia ? | Mutations in the CAT gene can cause acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into oxygen and water. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it is involved in several chemical signaling pathwa... |
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ulc... | Is acatalasemia inherited ? | Acatalasemia has an autosomal recessive pattern of inheritance, which means both copies of the CAT gene in each cell have mutations. When both copies of the gene are altered, the activity of catalase is reduced to less than 10 percent of normal. When only one of the two copies of the CAT gene has a mutation, the activ... |
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ulc... | What are the treatments for acatalasemia ? | These resources address the diagnosis or management of acatalasemia: - Genetic Testing Registry: Acatalasemia - Genetic Testing Registry: Acatalasemia, japanese type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... |
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by ... | What is (are) rhizomelic chondrodysplasia punctata ? | Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by... |
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by ... | How many people are affected by rhizomelic chondrodysplasia punctata ? | Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people worldwide. RCDP1 is more common than RCDP2 or RCDP3. |
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by ... | What are the genetic changes related to rhizomelic chondrodysplasia punctata ? | Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3. The genes associated with rhizomelic chondrodysplasia punctata are involved in the forma... |
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by ... | Is rhizomelic chondrodysplasia punctata 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. |
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by ... | What are the treatments for rhizomelic chondrodysplasia punctata ? | These resources address the diagnosis or management of rhizomelic chondrodysplasia punctata: - Gene Review: Gene Review: Rhizomelic Chondrodysplasia Punctata Type 1 - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 1 - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 2 - Genet... |
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appe... | What is (are) Stickler syndrome ? | Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This app... |
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appe... | How many people are affected by Stickler syndrome ? | Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition. |
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appe... | What are the genetic changes related to Stickler syndrome ? | Mutations in several genes cause the different types of Stickler syndrome. Between 80 and 90 percent of all cases are classified as type I and are caused by mutations in the COL2A1 gene. Another 10 to 20 percent of cases are classified as type II and result from mutations in the COL11A1 gene. Marshall syndrome, which m... |
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appe... | Is Stickler syndrome inherited ? | Stickler syndrome types I, II, and III are 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, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations. These cases occur ... |
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appe... | What are the treatments for Stickler syndrome ? | These resources address the diagnosis or management of Stickler syndrome: - Gene Review: Gene Review: Stickler Syndrome - Genetic Testing Registry: Marshall syndrome - Genetic Testing Registry: Stickler syndrome - MedlinePlus Encyclopedia: Pierre Robin Syndrome - Merck Manual Consumer Version: Detachment of the Re... |
Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involuntar... | What is (are) Unverricht-Lundborg disease ? | Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involunta... |
Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involuntar... | How many people are affected by Unverricht-Lundborg disease ? | Progressive myoclonus epilepsy is a rare condition. Unverricht-Lundborg disease is believed to be the most common cause of this type of epilepsy, but its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most frequently in Finland, where approximately 4 in 100,000 people are affected. |
Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involuntar... | What are the genetic changes related to Unverricht-Lundborg disease ? | Mutations in the CSTB gene cause Unverricht-Lundborg disease. The CSTB gene provides instructions for making a protein called cystatin B. This protein reduces the activity of enzymes called cathepsins. Cathepsins help break down certain proteins in the lysosomes (compartments in the cell that digest and recycle materia... |
Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involuntar... | Is Unverricht-Lundborg disease 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. |
Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involuntar... | What are the treatments for Unverricht-Lundborg disease ? | These resources address the diagnosis or management of Unverricht-Lundborg disease: - Gene Review: Gene Review: Unverricht-Lundborg Disease - Genetic Testing Registry: Unverricht-Lundborg syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ... |
Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (someti... | What is (are) hemophilia ? | Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous b... |
Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (someti... | How many people are affected by hemophilia ? | The two major forms of hemophilia occur much more commonly in males than in females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide. |
Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (someti... | What are the genetic changes related to hemophilia ? | Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. Coagulation factors are proteins that work together i... |
Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (someti... | Is hemophilia inherited ? | Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are 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... |
Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (someti... | What are the treatments for hemophilia ? | These resources address the diagnosis or management of hemophilia: - Gene Review: Gene Review: Hemophilia A - Gene Review: Gene Review: Hemophilia B - Genetic Testing Registry: HEMOPHILIA B(M) - Genetic Testing Registry: Hemophilia - Genetic Testing Registry: Hereditary factor IX deficiency disease - Genetic Test... |
Ankylosing spondylitis is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Â Early symptoms of ankylosing spondylitis typically begin between the ages of 15 and 30. Most commonly, affected individuals first experience chronic back pain and stiffness. This ... | What is (are) ankylosing spondylitis ? | Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spi... |
Ankylosing spondylitis is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Â Early symptoms of ankylosing spondylitis typically begin between the ages of 15 and 30. Most commonly, affected individuals first experience chronic back pain and stiffness. This ... | How many people are affected by ankylosing spondylitis ? | Ankylosing spondylitis is part of a group of related diseases known as spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 to 13 per 1,000 people. |
Ankylosing spondylitis is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Â Early symptoms of ankylosing spondylitis typically begin between the ages of 15 and 30. Most commonly, affected individuals first experience chronic back pain and stiffness. This ... | What are the genetic changes related to ankylosing spondylitis ? | Ankylosing spondylitis is likely caused by a combination of genetic and environmental factors, most of which have not been identified. However, researchers have found variations in several genes that influence the risk of developing this disorder. The HLA-B gene provides instructions for making a protein that plays an... |
Ankylosing spondylitis is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Â Early symptoms of ankylosing spondylitis typically begin between the ages of 15 and 30. Most commonly, affected individuals first experience chronic back pain and stiffness. This ... | Is ankylosing spondylitis inherited ? | Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with ankylosing spondylitis does not me... |
Ankylosing spondylitis is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Â Early symptoms of ankylosing spondylitis typically begin between the ages of 15 and 30. Most commonly, affected individuals first experience chronic back pain and stiffness. This ... | What are the treatments for ankylosing spondylitis ? | These resources address the diagnosis or management of ankylosing spondylitis: - Genetic Testing Registry: Ankylosing spondylitis - MedlinePlus Encyclopedia: Ankylosing Spondylitis - MedlinePlus Encyclopedia: HLA-B27 Antigen These resources from MedlinePlus offer information about the diagnosis and management of v... |
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites fo... | What is (are) neuroblastoma ? | Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites fo... |
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites fo... | How many people are affected by neuroblastoma ? | Neuroblastoma is the most common cancer in infants younger than 1 year. It occurs in 1 in 100,000 children and is diagnosed in about 650 children each year in the United States. |
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites fo... | What are the genetic changes related to neuroblastoma ? | Neuroblastoma and other cancers occur when a buildup of genetic mutations in critical genesthose that control cell growth and division (proliferation) or maturation (differentiation)allow cells to grow and divide uncontrollably to form a tumor. In most cases, these genetic changes are acquired during a person's lifetim... |
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites fo... | Is neuroblastoma inherited ? | Most people with neuroblastoma have sporadic neuroblastoma, meaning the condition arose from somatic mutations in the body's cells and was not inherited. About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an autosomal dominant inheritance pattern, which means one c... |
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites fo... | What are the treatments for neuroblastoma ? | These resources address the diagnosis or management of neuroblastoma: - American Cancer Society: Diagnosis of Neuroblastoma - Gene Review: Gene Review: ALK-Related Neuroblastic Tumor Susceptibility - Genetic Testing Registry: Neuroblastoma - Genetic Testing Registry: Neuroblastoma 2 - Genetic Testing Registry: Neu... |
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is ca... | What is (are) autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is c... |
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is ca... | How many people are affected by autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of inherited peripheral neuropathy. This group of conditions affects an estimated 1 in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with neuromyotonia is unknown. |
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is ca... | What are the genetic changes related to autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1 gene. This gene provides instructions for making a protein that is involved in the function of the nervous system; however its specific role is not well understood. Laboratory studies show that the HINT1 protein has the ability... |
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is ca... | Is autosomal recessive axonal neuropathy with neuromyotonia 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. |
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is ca... | What are the treatments for autosomal recessive axonal neuropathy with neuromyotonia ? | These resources address the diagnosis or management of autosomal recessive axonal neuropathy with neuromyotonia: - Genetic Testing Registry: Gamstorp-Wohlfart syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Thera... |
Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). In addition, hair on these regions of skin can also lose pigment and appear white. The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. The size and number of patches varies from person to person. The ... | 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 ... |
Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). In addition, hair on these regions of skin can also lose pigment and appear white. The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. The size and number of patches varies from person to person. The ... | 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. |
Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). In addition, hair on these regions of skin can also lose pigment and appear white. The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. The size and number of patches varies from person to person. The ... | 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.... |
Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). In addition, hair on these regions of skin can also lose pigment and appear white. The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. The size and number of patches varies from person to person. The ... | 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. |
Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). In addition, hair on these regions of skin can also lose pigment and appear white. The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. The size and number of patches varies from person to person. The ... | 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... |
Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). In many affected individuals, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have fatigue, muscle pain (myalgia), or cramps after exercis... | What is (are) adenosine monophosphate deaminase deficiency ? | Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typ... |
Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). In many affected individuals, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have fatigue, muscle pain (myalgia), or cramps after exercis... | How many people are affected by adenosine monophosphate deaminase deficiency ? | AMP deaminase deficiency is one of the most common inherited muscle disorders in white populations, affecting 1 in 50 to 100 people. The prevalence is lower in African Americans, affecting an estimated 1 in 40,000 people, and the condition is even less common in the Japanese population. |
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