sarnsrun/medquad huggingface dataset:
Topic: Timothy syndrome
Question: What is (are) Timothy syndrome ?
Answer: Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system.  Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause irregular heartbeats (arrhythmia), which can lead to sudden death. Many people with Timothy syndrome are also born with structural heart defects that affect the heart's ability to pump blood effectively. As a result of these serious heart problems, many people with Timothy syndrome live only into childhood. The most common cause of death is a form of arrhythmia called ventricular tachyarrhythmia, in which the lower chambers of the heart (the ventricles) beat abnormally fast and lead to cardiac arrest.  Timothy syndrome is also characterized by webbing or fusion of the skin between some fingers or toes (cutaneous syndactyly). About half of affected people have distinctive facial features such as a flattened nasal bridge, low-set ears, a small upper jaw, and a thin upper lip. Children with this condition have small, misplaced teeth and frequent cavities (dental caries). Additional signs and symptoms of Timothy syndrome can include baldness at birth, frequent infections, episodes of low blood sugar (hypoglycemia), and an abnormally low body temperature (hypothermia).  Researchers have found that many children with Timothy syndrome have the characteristic features of autism or similar conditions known as autistic spectrum disorders. Affected children tend to have impaired communication and socialization skills, as well as delayed development of speech and language. Other nervous system abnormalities, including intellectual disability and seizures, can also occur in children with Timothy syndrome.  Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes.
Source: GHR
Topic: Timothy syndrome
Question: How many people are affected by Timothy syndrome ?
Answer: Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears to be more common than the atypical type, which has been identified in only two individuals.
Source: GHR
Topic: Timothy syndrome
Question: What are the genetic changes related to Timothy syndrome ?
Answer: Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein that acts as a channel across cell membranes. This channel, known as CaV1.2, is one of several channels that transport positively charged calcium atoms (calcium ions) into cells. Calcium ions are involved in many different cellular functions, including cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes. CaV1.2 calcium channels are particularly important for the normal function of heart and brain cells. In cardiac muscle, these channels play a critical role in maintaining the heart's normal rhythm. Their role in the brain and in other tissues is less clear.  Mutations in the CACNA1C gene change the structure of CaV1.2 channels. The altered channels stay open much longer than usual, which allows calcium ions to continue flowing into cells abnormally. The resulting overload of calcium ions within cardiac muscle cells changes the way the heart beats and can cause arrhythmia. Researchers are working to determine how an increase in calcium ion transport in other tissues, including cells in the brain, underlies the other features of Timothy syndrome.
Source: GHR
Topic: Timothy syndrome
Question: Is Timothy syndrome inherited ?
Answer: This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered CACNA1C gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene, and occur in people with no history of the disorder in their family. Less commonly, people with Timothy syndrome inherit the altered gene from an unaffected parent who is mosaic for a CACNA1C mutation. Mosaicism means that the parent has the mutation in some cells (including egg or sperm cells), but not in others.
Source: GHR
Topic: Timothy syndrome
Question: What are the treatments for Timothy syndrome ?
Answer: These resources address the diagnosis or management of Timothy syndrome:  - Gene Review: Gene Review: Timothy Syndrome  - Genetic Testing Registry: Timothy syndrome  - MedlinePlus Encyclopedia: Arrhythmias  - MedlinePlus Encyclopedia: Congenital Heart Disease  - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: African iron overload
Question: What is (are) African iron overload ?
Answer: African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron levels in the body are primarily regulated through control of how much iron is absorbed from the diet.  African iron overload results from a diet high in iron. It is particularly associated with consumption of a traditional African beer that contains dissolved iron from the metal drums in which it is brewed. Some evidence suggests that a genetic predisposition to absorbing too much iron may also be involved.  In African iron overload, excess iron typically accumulates in liver cells (hepatocytes) and certain immune cells called reticuloendothelial cells. Reticuloendothelial cells include macrophages in the bone marrow and spleen and Kuppfer cells, which are specialized macrophages found in the liver. Kuppfer cells and other macrophages help protect the body against foreign invaders such as viruses and bacteria.  When too much iron is absorbed, the resulting iron overload can eventually damage tissues and organs. Iron overload in the liver may lead to chronic liver disease (cirrhosis) in people with African iron overload. Cirrhosis increases the risk for developing a type of liver cancer called hepatocellular carcinoma. Iron overload in immune cells may affect their ability to fight infections. African iron overload is associated with an increased risk of developing infections such as tuberculosis.  People with African iron overload may have a slightly low number of red blood cells (mild anemia), possibly because the iron that accumulates in the liver, bone marrow, and spleen is less available for production of red blood cells. Affected individuals also have high levels of a protein called ferritin in their blood, which can be detected with a blood test. Ferritin stores and releases iron in cells, and cells produce more ferritin in response to excess amounts of iron.
Source: GHR
Topic: African iron overload
Question: How many people are affected by African iron overload ?
Answer: African iron overload is common in rural areas of central and southern Africa; up to 10 percent of the population in these regions may be affected. Men seem to be affected more often than women, possibly due to some combination of differences in dietary iron consumption and gender differences in the processing of iron.  The prevalence of increased iron stores in people of African descent in other parts of the world is unknown; however, these individuals may be at higher risk of developing mildly increased iron stores than are people of European background.
Source: GHR
Topic: African iron overload
Question: What are the genetic changes related to African iron overload ?
Answer: African iron overload was first noted in rural central and southern African populations among people who drink a traditional beer brewed in uncoated steel drums that allow iron (a component of steel) to leach into the beer. However, not all individuals who drink the beer develop African iron overload, and not all individuals of African descent with iron overload drink the beer. Therefore, researchers are seeking genetic differences that affect the risk of developing this condition.  Some studies have indicated that a variation in the SLC40A1 gene increases the risk of developing increased iron stores in people of African descent. This variation is found in 5 to 20 percent of people of African descent but is not generally found in other populations.  The SLC40A1 gene provides instructions for making a protein called ferroportin. This protein is involved in the process of iron absorption in the body. Iron from the diet is absorbed through the walls of the small intestine. Ferroportin then transports iron from the small intestine into the bloodstream, and the iron is carried by the blood to the tissues and organs of the body. Ferroportin also transports iron out of reticuloendothelial cells in the liver, spleen, and bone marrow. The amount of iron absorbed by the body depends on the amount of iron stored and released from intestinal cells and macrophages.  The SLC40A1 gene variation that some studies have associated with increased iron stores in people of African descent may affect the way ferroportin helps to regulate iron absorption in the body. However, researchers suggest that this variation is not associated with most cases of African iron overload.
Source: GHR
Topic: African iron overload
Question: Is African iron overload inherited ?
Answer: African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this condition, but not the condition itself. Not all people with this condition have the variation in the gene, and not all people with the variation will develop the disorder.
Source: GHR
Topic: African iron overload
Question: What are the treatments for African iron overload ?
Answer: These resources address the diagnosis or management of African iron overload:  - Genetic Testing Registry: African nutritional hemochromatosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: hypochondrogenesis
Question: What is (are) hypochondrogenesis ?
Answer: Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.  Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly. The face appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in some cases, an opening in the roof of the mouth called a cleft palate. Individuals with hypochondrogenesis have an enlarged abdomen and may have a condition called hydrops fetalis in which excess fluid builds up in the body before birth.  As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with hypochondrogenesis usually die at birth or shortly thereafter from respiratory failure. Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development.
Source: GHR
Topic: hypochondrogenesis
Question: How many people are affected by hypochondrogenesis ?
Answer: Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 newborns.
Source: GHR
Topic: hypochondrogenesis
Question: What are the genetic changes related to hypochondrogenesis ?
Answer: Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.
Source: GHR
Topic: hypochondrogenesis
Question: Is hypochondrogenesis inherited ?
Answer: Hypochondrogenesis is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is caused by new mutations in the COL2A1 gene and occurs in people with no history of the disorder in their family. This condition is not passed on to the next generation because affected individuals do not live long enough to have children.
Source: GHR
Topic: hypochondrogenesis
Question: What are the treatments for hypochondrogenesis ?
Answer: These resources address the diagnosis or management of hypochondrogenesis:  - Genetic Testing Registry: Hypochondrogenesis  - MedlinePlus Encyclopedia: Achondrogenesis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: Tourette syndrome
Question: What is (are) Tourette syndrome ?
Answer: Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood.  Tourette syndrome involves both motor tics, which are uncontrolled body movements, and vocal or phonic tics, which are outbursts of sound. Some motor tics are simple and involve only one muscle group. Simple motor tics, such as rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first signs of Tourette syndrome. Motor tics also can be complex (involving multiple muscle groups), such as jumping, kicking, hopping, or spinning.  Vocal tics, which generally appear later than motor tics, also can be simple or complex. Simple vocal tics include grunting, sniffing, and throat-clearing. More complex vocalizations include repeating the words of others (echolalia) or repeating one's own words (palilalia). The involuntary use of inappropriate or obscene language (coprolalia) is possible, but uncommon, among people with Tourette syndrome.  In addition to frequent tics, people with Tourette syndrome are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep.
Source: GHR
Topic: Tourette syndrome
Question: How many people are affected by Tourette syndrome ?
Answer: Although the exact incidence of Tourette syndrome is uncertain, it is estimated to affect 1 to 10 in 1,000 children. This disorder occurs in populations and ethnic groups worldwide, and it is more common in males than in females.
Source: GHR
Topic: Tourette syndrome
Question: What are the genetic changes related to Tourette syndrome ?
Answer: A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. Most of these factors are unknown, and researchers are studying risk factors before and after birth that may contribute to this complex disorder. Scientists believe that tics may result from changes in brain chemicals (neurotransmitters) that are responsible for producing and controlling voluntary movements.  Mutations involving the SLITRK1 gene have been identified in a small number of people with Tourette syndrome. This gene provides instructions for making a protein that is active in the brain. The SLITRK1 protein probably plays a role in the development of nerve cells, including the growth of specialized extensions (axons and dendrites) that allow each nerve cell to communicate with nearby cells. It is unclear how mutations in the SLITRK1 gene can lead to this disorder.  Most people with Tourette syndrome do not have a mutation in the SLITRK1 gene. Because mutations have been reported in so few people with this condition, the association of the SLITRK1 gene with this disorder has not been confirmed. Researchers suspect that changes in other genes, which have not been identified, are also associated with Tourette syndrome.
Source: GHR
Topic: Tourette syndrome
Question: Is Tourette syndrome inherited ?
Answer: The inheritance pattern of Tourette syndrome is unclear. Although the features of this condition can cluster in families, many genetic and environmental factors are likely to be involved. Among family members of an affected person, it is difficult to predict who else may be at risk of developing the condition.  Tourette syndrome was previously thought to have an autosomal dominant pattern of inheritance, which suggests that one mutated copy of a gene in each cell would be sufficient to cause the condition. Several decades of research have shown that this is not the case. Almost all cases of Tourette syndrome probably result from a variety of genetic and environmental factors, not changes in a single gene.
Source: GHR
Topic: Tourette syndrome
Question: What are the treatments for Tourette syndrome ?
Answer: These resources address the diagnosis or management of Tourette syndrome:  - Gene Review: Gene Review: Tourette Disorder Overview  - Genetic Testing Registry: Tourette Syndrome  - MedlinePlus Encyclopedia: Gilles de la Tourette syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: Buschke-Ollendorff syndrome
Question: What is (are) Buschke-Ollendorff syndrome ?
Answer: Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis.  Connective tissue nevi are small, noncancerous lumps on the skin. They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. The most common form of these nevi are elastomas, which are made up of a type of stretchy connective tissue called elastic fibers. Less commonly, affected individuals have nevi called collagenomas, which are made up of another type of connective tissue called collagen.  Osteopoikilosis, which is from the Greek words for "spotted bones," is a skeletal abnormality characterized by small, round areas of increased bone density that appear as brighter spots on x-rays. Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. The areas of increased bone density appear during childhood. They do not cause pain or other health problems.
Source: GHR
Topic: Buschke-Ollendorff syndrome
Question: How many people are affected by Buschke-Ollendorff syndrome ?
Answer: Buschke-Ollendorff syndrome has an estimated incidence of 1 in 20,000 people worldwide.
Source: GHR
Topic: Buschke-Ollendorff syndrome
Question: What are the genetic changes related to Buschke-Ollendorff syndrome ?
Answer: Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-) pathways. These signaling pathways regulate various cellular processes and are involved in the growth of cells, including new bone cells.  Mutations in the LEMD3 gene reduce the amount of functional LEMD3 protein that is produced. A shortage of this protein prevents it from controlling BMP and TGF- signaling effectively, leading to increased signaling through both of these pathways. Studies suggest that the enhanced signaling increases the formation of bone tissue, resulting in areas of overly dense bone. It is unclear how it is related to the development of connective tissue nevi in people with Buschke-Ollendorff syndrome.
Source: GHR
Topic: Buschke-Ollendorff syndrome
Question: Is Buschke-Ollendorff syndrome inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent and other family members with the condition. While most people with Buschke-Ollendorff syndrome have both connective tissue nevi and osteopoikilosis, some affected families include individuals who have the skin abnormalities alone or the bone abnormalities alone. When osteopoikilosis occurs without connective tissue nevi, the condition is often called isolated osteopoikilosis.
Source: GHR
Topic: Buschke-Ollendorff syndrome
Question: What are the treatments for Buschke-Ollendorff syndrome ?
Answer: These resources address the diagnosis or management of Buschke-Ollendorff syndrome:  - Genetic Testing Registry: Dermatofibrosis lenticularis disseminata   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: paramyotonia congenita
Question: What is (are) paramyotonia congenita ?
Answer: Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements.  Most peopleeven those without muscle diseasefeel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling.
Source: GHR
Topic: paramyotonia congenita
Question: How many people are affected by paramyotonia congenita ?
Answer: Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people.
Source: GHR