fenil210/Med-Lamma huggingface dataset:
What are the genetic changes related to Koolen-de Vries syndrome ?
Koolen-de Vries syndrome is caused by genetic changes that eliminate the function of one copy of the KANSL1 gene in each cell. Most affected individuals are missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17. This type of genetic abnormality is called a microdeletion. A small number of individuals with Koolen-de Vries syndrome do not have a chromosome 17 microdeletion but instead have a mutation within the KANSL1 gene that causes one copy of the gene to be nonfunctional.  The microdeletion that causes Koolen-de Vries syndrome occurs on the long (q) arm of chromosome 17 at a location designated q21.31. While the exact size of the deletion varies among affected individuals, most are missing a sequence of about 500,000 DNA building blocks (base pairs) containing several genes. However, because individuals with KANSL1 gene mutations have the same signs and symptoms as those with the microdeletion, researchers have concluded that the loss of this gene accounts for the features of this disorder.  The KANSL1 gene provides instructions for making a protein that helps regulate gene activity (expression) by modifying chromatin. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The protein produced from the KANSL1 gene is found in most organs and tissues of the body before birth and throughout life. By its involvement in controlling the activity of other genes, this protein plays an important role in the development and function of many parts of the body. Loss of one copy of this gene impairs normal development and function, but the relationship of KANSL1 gene loss to the specific signs and symptoms of Koolen-de Vries syndrome is unclear. + GHR + Koolen-de Vries syndrome
Is Koolen-de Vries syndrome inherited ?
Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting one copy of the KANSL1 gene in each cell is sufficient to cause the disorder. In most cases, the disorder is not inherited. The genetic change occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. While it is possible for them to pass the condition on to their children, no individuals with Koolen-de Vries syndrome have been known to reproduce.  Most people with Koolen-de Vries syndrome caused by a deletion have had at least one parent with a common variant of the 17q21.31 region of chromosome 17 called the H2 lineage. This variant is found in 20 percent of people of European and Middle Eastern descent, although it is rare in other populations. In the H2 lineage, a 900 kb segment of DNA, which includes the region deleted in most cases of Koolen-de Vries syndrome, has undergone an inversion. An inversion involves two breaks in a chromosome; the resulting piece of DNA is reversed and reinserted into the chromosome.  People with the H2 lineage have no health problems related to the inversion. However, genetic material can be lost or duplicated when the inversion is passed to the next generation. Other, unknown factors are thought to play a role in this process. So while the inversion is very common, only an extremely small percentage of parents with the inversion have a child affected by Koolen-de Vries syndrome. + GHR + Koolen-de Vries syndrome
What are the treatments for Koolen-de Vries syndrome ?
These resources address the diagnosis or management of Koolen-de Vries syndrome:  - Gene Review: Gene Review: KANSL1-Related Intellectual Disability Syndrome  - Genetic Testing Registry: Koolen-de Vries 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 + Koolen-de Vries syndrome
What is (are) sudden infant death with dysgenesis of the testes syndrome ?
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.  Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female or that do not look clearly male or clearly female (ambiguous genitalia). In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal.  SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body. Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, abnormal reflexes, seizures, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx).  The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest). + GHR + sudden infant death with dysgenesis of the testes syndrome
How many people are affected by sudden infant death with dysgenesis of the testes syndrome ?
SIDDT has been diagnosed in more than 20 infants from a single Old Order Amish community in Pennsylvania. The condition has not been reported outside this community. + GHR + sudden infant death with dysgenesis of the testes syndrome
What are the genetic changes related to sudden infant death with dysgenesis of the testes syndrome ?
A single mutation in the TSPYL1 gene has caused all identified cases of SIDDT. This gene provides instructions for making a protein called TSPY-like 1, whose function is unknown. Based on its role in SIDDT, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain.  The TSPYL1 gene mutation that causes SIDDT eliminates the function of TSPY-like 1. The loss of this protein's function appears to cause the major features of the disorder by disrupting the normal development of the male reproductive system and the brain, particularly the brainstem.  Research findings suggest that mutations in the TSPYL1 gene are not associated with sudden infant death syndrome (SIDS) in the general population. SIDS is a major cause of death in children younger than 1 year. + GHR + sudden infant death with dysgenesis of the testes syndrome
Is sudden infant death with dysgenesis of the testes 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 + sudden infant death with dysgenesis of the testes syndrome
What are the treatments for sudden infant death with dysgenesis of the testes syndrome ?
These resources address the diagnosis or management of SIDDT:  - Clinic for Special Children (Strasburg, Pennsylvania)  - Genetic Testing Registry: Sudden infant death with dysgenesis of the testes 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 + sudden infant death with dysgenesis of the testes syndrome
What is (are) mitochondrial membrane protein-associated neurodegeneration ?
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time.  MPAN commonly begins with difficulty walking. As the condition progresses, affected individuals usually develop other movement problems, including muscle stiffness (spasticity) and involuntary muscle cramping (dystonia). Many people with MPAN have a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, involuntary trembling (tremors), and an inability to hold the body upright and balanced (postural instability).  Other neurological problems that occur in individuals with MPAN include degeneration of the nerve cells that carry visual information from the eyes to the brain (optic atrophy), which can impair vision; problems with speech (dysarthria); difficulty swallowing (dysphagia); and, in later stages of the condition, an inability to control the bowels or the flow of urine (incontinence). Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, mood swings, hyperactivity, and depression.  MPAN is characterized by an abnormal buildup of iron in certain regions of the brain. Because of these deposits, MPAN is considered part of a group of conditions known as neurodegeneration with brain iron accumulation (NBIA). + GHR + mitochondrial membrane protein-associated neurodegeneration
How many people are affected by mitochondrial membrane protein-associated neurodegeneration ?
MPAN is a rare condition that is estimated to affect less than 1 in 1 million people. + GHR + mitochondrial membrane protein-associated neurodegeneration
What are the genetic changes related to mitochondrial membrane protein-associated neurodegeneration ?
Mutations in the C19orf12 gene cause MPAN. The protein produced from this gene is found in the membrane of cellular structures called mitochondria, which are the energy-producing centers of the cell. Although its function is unknown, researchers suggest that the C19orf12 protein plays a role in the maintenance of fat (lipid) molecules, a process known as lipid homeostasis.  The gene mutations that cause this condition lead to an altered C19orf12 protein that likely has little or no function. It is unclear how these genetic changes lead to the neurological problems associated with MPAN. Researchers are working to determine whether there is a link between problems with lipid homeostasis and brain iron accumulation and how these abnormalities might contribute to the features of this disorder. + GHR + mitochondrial membrane protein-associated neurodegeneration
Is mitochondrial membrane protein-associated neurodegeneration 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 + mitochondrial membrane protein-associated neurodegeneration
What are the treatments for mitochondrial membrane protein-associated neurodegeneration ?
These resources address the diagnosis or management of mitochondrial membrane protein-associated neurodegeneration:  - Gene Review: Gene Review: Mitochondrial Membrane Protein-Associated Neurodegeneration  - Gene Review: Gene Review: Neurodegeneration with Brain Iron Accumulation Disorders Overview  - Genetic Testing Registry: Neurodegeneration with brain iron accumulation 4  - Spastic Paraplegia Foundation: Treatments and Therapies   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 + mitochondrial membrane protein-associated neurodegeneration
What is (are) adolescent idiopathic scoliosis ?
Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "S" or "C" shape; the bones of the spine are also slightly twisted or rotated.  Adolescent idiopathic scoliosis appears during the adolescent growth spurt, a time when children are growing rapidly. In many cases the abnormal spinal curve is stable, although in some children the curve is progressive (meaning it becomes more severe over time). For unknown reasons, severe and progressive curves occur more frequently in girls than in boys. However, mild spinal curvature is equally common in girls and boys.  Mild scoliosis generally does not cause pain, problems with movement, or difficulty breathing. It may only be diagnosed if it is noticed during a regular physical examination or a scoliosis screening at school. The most common signs of the condition include a tilt or unevenness (asymmetry) in the shoulders, hips, or waist, or having one leg that appears longer than the other. A small percentage of affected children develop more severe, pronounced spinal curvature.  Scoliosis can occur as a feature of other conditions, including a variety of genetic syndromes. However, adolescent idiopathic scoliosis typically occurs by itself, without signs and symptoms affecting other parts of the body. + GHR + adolescent idiopathic scoliosis
How many people are affected by adolescent idiopathic scoliosis ?
Adolescent idiopathic scoliosis is the most common spinal abnormality in children. It affects an estimated 2 to 3 percent of children in the U.S. + GHR + adolescent idiopathic scoliosis
What are the genetic changes related to adolescent idiopathic scoliosis ?
The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not been identified.  Researchers suspect that many genes are involved in adolescent idiopathic scoliosis. Some of these genes likely contribute to causing the disorder, while others play a role in determining the severity of spinal curvature and whether the curve is stable or progressive. Although many genes have been studied, few clear and consistent genetic associations with adolescent idiopathic scoliosis have been identified. + GHR + adolescent idiopathic scoliosis
Is adolescent idiopathic scoliosis inherited ?
Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. However, having a close relative (such as a parent or sibling) with adolescent idiopathic scoliosis increases a child's risk of developing the condition. + GHR + adolescent idiopathic scoliosis
What are the treatments for adolescent idiopathic scoliosis ?
These resources address the diagnosis or management of adolescent idiopathic scoliosis:  - Genetic Testing Registry: Scoliosis, idiopathic 1  - Genetic Testing Registry: Scoliosis, idiopathic 2  - Genetic Testing Registry: Scoliosis, idiopathic 3  - National Scoliosis Foundation: FAQs  - Scoliosis Research Society: Find A Specialist  - Scoliosis Research Society: For Adolescents   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 + adolescent idiopathic scoliosis
What is (are) neuroferritinopathy ?
Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent on one side of the body than on the other. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria).  Intelligence is unaffected in most people with neuroferritinopathy, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. + GHR + neuroferritinopathy
How many people are affected by neuroferritinopathy ?
The prevalence of neuroferritinopathy is unknown. Fewer than 100 individuals with this disorder have been reported. + GHR + neuroferritinopathy
What are the genetic changes related to neuroferritinopathy ?
Mutations in the FTL gene cause neuroferritinopathy. The FTL gene provides instructions for making the ferritin light chain, which is one part (subunit) of a protein called ferritin. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms. This storage capacity allows ferritin to regulate the amount of iron in the cells and tissues.  Mutations in the FTL gene that cause neuroferritinopathy are believed to reduce ferritin's ability to store iron, resulting in the release of excess iron in nerve cells (neurons) of the brain. The cells may respond by producing more ferritin in an attempt to handle the free iron. Excess iron and ferritin accumulate in the brain, particularly in the basal ganglia, resulting in the movement problems and other neurological changes seen in neuroferritinopathy. + GHR + neuroferritinopathy
Is neuroferritinopathy 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 inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. + GHR + neuroferritinopathy
What are the treatments for neuroferritinopathy ?
These resources address the diagnosis or management of neuroferritinopathy:  - Gene Review: Gene Review: Neuroferritinopathy  - Genetic Testing Registry: Neuroferritinopathy   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 + neuroferritinopathy
What is (are) hereditary hemochromatosis ?
Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hereditary hemochromatosis is also called an iron overload disorder.  Early symptoms of hereditary hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. The appearance and progression of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections.  Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. Type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause.  Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins early in life, and symptoms may appear in childhood. By age 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or symptoms related to a shortage of sex hormones. If the disorder is untreated, heart disease becomes evident by age 30.  The onset of type 3 hemochromatosis is usually intermediate between types 1 and 2. Symptoms of type 3 hemochromatosis generally begin before age 30. + GHR + hereditary hemochromatosis
How many people are affected by hereditary hemochromatosis ?
Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects people of Northern European descent. The other types of hemochromatosis are considered rare and have been studied in only a small number of families worldwide. + GHR + hereditary hemochromatosis
What are the genetic changes related to hereditary hemochromatosis ?
Mutations in the HAMP, HFE, HFE2, SLC40A1, and TFR2 genes cause hereditary hemochromatosis. Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HFE2 or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC40A1 gene cause type 4 hemochromatosis.  The proteins produced from these genes play important roles in regulating the absorption, transport, and storage of iron. Mutations in any of these genes impair the control of iron absorption during digestion and alter the distribution of iron to other parts of the body. As a result, iron accumulates in tissues and organs, which can disrupt their normal functions. + GHR + hereditary hemochromatosis
Is hereditary hemochromatosis inherited ?
Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition.  Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern. With this type of inheritance, 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. + GHR + hereditary hemochromatosis
What are the treatments for hereditary hemochromatosis ?
These resources address the diagnosis or management of hereditary hemochromatosis:  - Gene Review: Gene Review: HFE-Associated Hereditary Hemochromatosis  - Gene Review: Gene Review: Juvenile Hereditary Hemochromatosis  - Gene Review: Gene Review: TFR2-Related Hereditary Hemochromatosis  - GeneFacts: Hereditary Hemochromatosis: Diagnosis  - GeneFacts: Hereditary Hemochromatosis: Management  - Genetic Testing Registry: Hemochromatosis type 1  - Genetic Testing Registry: Hemochromatosis type 2A  - Genetic Testing Registry: Hemochromatosis type 3  - Genetic Testing Registry: Hemochromatosis type 4  - MedlinePlus Encyclopedia: 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 + GHR + hereditary hemochromatosis