fenil210/Med-Lamma huggingface dataset:
What are the genetic changes related to spinocerebellar ataxia type 3 ?
Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin is attached (bound) to unneeded proteins, which tags them to be broken down (degraded) within cells. Ataxin-3 removes the ubiquitin from these unwanted proteins just before they are degraded so that the ubiquitin can be used again. Researchers believe that ataxin-3 also may be involved in regulating the first stage of protein production (transcription).  The ATXN3 gene mutations that cause SCA3 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 12 to 43 times within the gene. Most people have fewer than 31 CAG repeats. In people with SCA3, the CAG segment is repeated more than 50 times. People who have 44 to 52 CAG repeats are described as having an "intermediate repeat." These individuals may or may not develop SCA3. People with 75 or fewer repeats tend to first experience signs and symptoms of SCA3 in mid-adulthood, while people with around 80 repeats usually have signs and symptoms by their teens.  An increase in the length of the CAG segment leads to the production of an abnormally long version of the ataxin-3 enzyme that folds into the wrong 3-dimensional shape. This nonfunctional ataxin-3 enzyme cannot remove ubiquitin from proteins that are no longer needed. As a result, these unwanted proteins, along with ubiquitin and ataxin-3, cluster together to form clumps (aggregates) within the nucleus of the cells. It is unclear how these aggregates affect cell function, because they are found in healthy cells as well as those that die.  Nerve cells (neurons) and other types of brain cells are most affected by mutations in the ATXN3 gene. SCA3 is associated with cell death in the part of the brain that is connected to the spinal cord (the brainstem), the part of the brain involved in coordinating movements (the cerebellum), and other areas of the brain. This condition is also associated with the death of neurons in the spinal cord. Over time, the loss of cells in the brain and spinal cord cause the signs and symptoms characteristic of SCA3. + GHR + spinocerebellar ataxia type 3
Is spinocerebellar ataxia type 3 inherited ?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.  As the altered ATXN3 gene is passed down from one generation to the next, the length of the CAG trinucleotide repeat often increases. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATXN3 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal inheritance).  In rare cases, individuals have been reported with expanded CAG repeats on both copies of the ATXN3 gene in each cell. These people have more severe signs and symptoms than people with only one mutation, and features of the condition appear in childhood. + GHR + spinocerebellar ataxia type 3
What are the treatments for spinocerebellar ataxia type 3 ?
These resources address the diagnosis or management of SCA3:  - Gene Review: Gene Review: Spinocerebellar Ataxia Type 3  - Genetic Testing Registry: Azorean disease   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + spinocerebellar ataxia type 3
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 (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).  Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.  Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures. + GHR + osteoporosis-pseudoglioma syndrome
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. + GHR + osteoporosis-pseudoglioma syndrome
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 in development of the retina.  LRP5 gene mutations that cause osteoporosis-pseudoglioma syndrome prevent cells from making any LRP5 protein or lead to a protein that cannot function. Loss of this protein's function disrupts the chemical signaling pathways that are needed for the formation of bone and for normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. + GHR + osteoporosis-pseudoglioma syndrome
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 condition. However, some carriers may have decreased bone mineral density. + GHR + osteoporosis-pseudoglioma syndrome
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: Osteoporosis   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 + GHR + osteoporosis-pseudoglioma syndrome
What is (are) congenital hyperinsulinism ?
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.  The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating. + GHR + congenital hyperinsulinism
How many people are affected by congenital hyperinsulinism ?
Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This condition is more common in certain populations, affecting up to 1 in 2,500 newborns. + GHR + congenital hyperinsulinism
What are the genetic changes related to congenital hyperinsulinism ?
Congenital hyperinsulinism is caused by mutations in genes that regulate the release (secretion) of insulin, which is produced by beta cells in the pancreas. Insulin clears excess sugar (in the form of glucose) from the bloodstream by passing glucose into cells to be used as energy.  Gene mutations that cause congenital hyperinsulinism lead to over-secretion of insulin from beta cells. Normally, insulin is secreted in response to the amount of glucose in the bloodstream: when glucose levels rise, so does insulin secretion. However, in people with congenital hyperinsulinism, insulin is secreted from beta cells regardless of the amount of glucose present in the blood. This excessive secretion of insulin results in glucose being rapidly removed from the bloodstream and passed into tissues such as muscle, liver, and fat. A lack of glucose in the blood results in frequent states of hypoglycemia in people with congenital hyperinsulinism. Insufficient blood glucose also deprives the brain of its primary source of fuel.  Mutations in at least nine genes have been found to cause congenital hyperinsulinism. Mutations in the ABCC8 gene are the most common known cause of the disorder. They account for this condition in approximately 40 percent of affected individuals. Less frequently, mutations in the KCNJ11 gene have been found in people with congenital hyperinsulinism. Mutations in each of the other genes associated with this condition account for only a small percentage of cases.  In approximately half of people with congenital hyperinsulinism, the cause is unknown. + GHR + congenital hyperinsulinism
Is congenital hyperinsulinism inherited ?
Congenital hyperinsulinism can have different inheritance patterns, usually depending on the form of the condition. At least two forms of the condition have been identified. The most common form is the diffuse form, which occurs when all of the beta cells in the pancreas secrete too much insulin. The focal form of congenital hyperinsulinism occurs when only some of the beta cells over-secrete insulin.  Most often, the diffuse form of congenital hyperinsulinism 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.  Less frequently, the diffuse form is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  The inheritance of the focal form of congenital hyperinsulinism is more complex. For most genes, both copies are turned on (active) in all cells, but for a small subset of genes, one of the two copies is turned off (inactive). Most people with the focal form of this condition inherit one copy of the mutated, inactive gene from their unaffected father. During embryonic development, a mutation occurs in the other, active copy of the gene. This second mutation is found within only some cells in the pancreas. As a result, some pancreatic beta cells have abnormal insulin secretion, while other beta cells function normally. + GHR + congenital hyperinsulinism
What are the treatments for congenital hyperinsulinism ?
These resources address the diagnosis or management of congenital hyperinsulinism:  - Gene Review: Gene Review: Familial Hyperinsulinism  - Genetic Testing Registry: Exercise-induced hyperinsulinemic hypoglycemia  - Genetic Testing Registry: Familial hyperinsulinism  - Genetic Testing Registry: Hyperinsulinemic hypoglycemia familial 3  - Genetic Testing Registry: Hyperinsulinemic hypoglycemia familial 5  - Genetic Testing Registry: Hyperinsulinemic hypoglycemia, familial, 4  - Genetic Testing Registry: Hyperinsulinism-hyperammonemia syndrome  - Genetic Testing Registry: Islet cell hyperplasia  - Genetic Testing Registry: Persistent hyperinsulinemic hypoglycemia of infancy  - MedlinePlus Encyclopedia: Neonatal Hypoglycemia  - The Children's Hospital of Philadelphia: Congenital Hyperinsulinism Center   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 + GHR + congenital hyperinsulinism
What is (are) Miller syndrome ?
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.  Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). These abnormalities frequently cause feeding problems in infants with Miller syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems.  People with Miller syndrome often have eyes that slant downward, eyelids that turn out so the inner surface is exposed (ectropion), and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small, cup-shaped ears, and some have hearing loss caused by defects in the middle ear (conductive hearing loss). Another feature of this condition is the presence of extra nipples. Miller syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment.  Individuals with Miller syndrome have various bone abnormalities in their arms and legs. The most common problem is absent fifth (pinky) fingers and toes. Affected individuals may also have webbed or fused fingers or toes (syndactyly) and abnormally formed bones in the forearms and lower legs. People with Miller syndrome sometimes have defects in other bones, such as the ribs or spine.  Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, or gastrointestinal tract. + GHR + Miller syndrome
How many people are affected by Miller syndrome ?
Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported in the medical literature. + GHR + Miller syndrome
What are the genetic changes related to Miller syndrome ?
Mutations in the DHODH gene cause Miller syndrome. This gene provides instructions for making an enzyme called dihydroorotate dehydrogenase. This enzyme is involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. Specifically, dihydroorotate dehydrogenase converts a molecule called dihydroorotate to a molecule called orotic acid. In subsequent steps, other enzymes modify orotic acid to produce pyrimidines.  Miller syndrome disrupts the development of structures called the first and second pharyngeal arches. The pharyngeal arches are five paired structures that form on each side of the head and neck during embryonic development. These structures develop into the bones, skin, nerves, and muscles of the head and neck. In particular, the first and second pharyngeal arches develop into the jaw, the nerves and muscles for chewing and facial expressions, the bones in the middle ear, and the outer ear. It remains unclear exactly how DHODH gene mutations lead to abnormal development of the pharyngeal arches in people with Miller syndrome.  Development of the arms and legs is also affected by Miller syndrome. Each limb starts out as a small mound of tissue called a limb bud, which grows outward. Many different proteins are involved in the normal shaping (patterning) of each limb. Once the overall pattern of a limb is formed, detailed shaping can take place. For example, to create individual fingers and toes, certain cells self-destruct (undergo apoptosis) to remove the webbing between each digit. The role dihydroorotate dehydrogenase plays in limb development is not known. It is also unknown how mutations in the DHODH gene cause bone abnormalities in the arms and legs of people with Miller syndrome. + GHR + Miller syndrome
Is Miller 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. + GHR + Miller syndrome
What are the treatments for Miller syndrome ?
These resources address the diagnosis or management of Miller syndrome:  - Genetic Testing Registry: Miller 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 + GHR + Miller syndrome
What is (are) congenital fibrosis of the extraocular muscles ?
Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may be misaligned such that they look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, many people with congenital fibrosis of the extraocular muscles have droopy eyelids (ptosis), which further limits their vision.  Researchers have identified at least four forms of congenital fibrosis of the extraocular muscles, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome. The specific problems with eye movement vary among the types. Tukel syndrome is characterized by missing fingers (oligodactyly) and other hand abnormalities in addition to problems with eye movement. + GHR + congenital fibrosis of the extraocular muscles
How many people are affected by congenital fibrosis of the extraocular muscles ?
CFEOM1 is the most common form of congenital fibrosis of the extraocular muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been reported worldwide, whereas CFEOM2 has been seen in only a few families of Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very rare; it has been diagnosed in only one large Turkish family. + GHR + congenital fibrosis of the extraocular muscles
What are the genetic changes related to congenital fibrosis of the extraocular muscles ?
CFEOM1 and rare cases of CFEOM3 result from mutations in the KIF21A gene. This gene provides instructions for making a protein called a kinesin, which is essential for the transport of materials within cells. Researchers believe that this protein plays an important role in the normal development and function of nerves in the head and face. In particular, this protein plays a critical role in the development of a particular branch of cranial nerve III, which emerges from the brain and controls muscles that raise the eyes and eyelids. Mutations in the KIF21A gene likely alter the protein's ability to transport materials within nerve cells, preventing the normal development of these cranial nerves and the extraocular muscles they control. Abnormal function of the extraocular muscles leads to restricted eye movement and related problems with vision.  Mutations in the PHOX2A gene cause CFEOM2. This gene provides instructions for making a protein that is found in the developing nervous system. Studies suggest that the PHOX2A protein plays a critical role in the development of cranial nerves III and IV, which are necessary for normal eye movement. Mutations likely eliminate the function of the PHOX2A protein, which prevents the normal development of these cranial nerves and the extraocular muscles they control.  In most cases of CFEOM3, the genetic cause of the condition is unknown. Studies suggest that a gene associated with CFEOM3 may be located near one end of chromosome 16. The gene associated with Tukel syndrome has not been identified either, although researchers think that it may be located near one end of chromosome 21. + GHR + congenital fibrosis of the extraocular muscles
Is congenital fibrosis of the extraocular muscles inherited ?
The different types of congenital fibrosis of the extraocular muscles have different patterns of inheritance. CFEOM1 and CFEOM3 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 the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  CFEOM2 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. Tukel syndrome also appears to have an autosomal recessive pattern of inheritance, although the genetic change responsible for this disorder is unknown. + GHR + congenital fibrosis of the extraocular muscles
What are the treatments for congenital fibrosis of the extraocular muscles ?
These resources address the diagnosis or management of congenital fibrosis of the extraocular muscles:  - Gene Review: Gene Review: Congenital Fibrosis of the Extraocular Muscles  - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 1  - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 2  - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement  - Genetic Testing Registry: Tukel syndrome  - MedlinePlus Encyclopedia: Extraocular Muscle Function Testing  - MedlinePlus Encyclopedia: Strabismus   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 + GHR + congenital fibrosis of the extraocular muscles