sarnsrun/medquadmini huggingface dataset:
Question:
What is (are) ALG6-congenital disorder of glycosylation ?

Answer:
ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition.  Individuals with ALG6-CDG typically develop signs and symptoms of the condition during infancy. They may have difficulty gaining weight and growing at the expected rate (failure to thrive). Affected infants often have weak muscle tone (hypotonia) and developmental delay.  People with ALG6-CDG may have seizures, problems with coordination and balance (ataxia), or stroke-like episodes that involve an extreme lack of energy (lethargy) and temporary paralysis. They may also develop blood clotting disorders. Some individuals with ALG6-CDG have eye abnormalities including eyes that do not look in the same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, most females with ALG6-CDG do not go through puberty.
Question:
How many people are affected by ALG6-congenital disorder of glycosylation ?

Answer:
The prevalence of ALG6-CDG is unknown, but it is thought to be the second most common type of congenital disorder of glycosylation. More than 30 cases of ALG6-CDG have been described in the scientific literature.
Question:
What are the genetic changes related to ALG6-congenital disorder of glycosylation ?

Answer:
ALG6-CDG is caused by mutations in the ALG6 gene. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. Glycosylation is the process by which sugar molecules (monosaccharides) and complex chains of sugar molecules (oligosaccharides) are added to proteins and fats. Glycosylation modifies proteins and fats so they can perform a wider variety of functions. The enzyme produced from the ALG6 gene transfers a simple sugar called glucose to the growing oligosaccharide. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or fat.  ALG6 gene mutations lead to the production of an abnormal enzyme with reduced or no activity. Without a properly functioning enzyme, glycosylation cannot proceed normally, and oligosaccharides are incomplete. As a result, glycosylation is reduced or absent. The wide variety of signs and symptoms in ALG6-CDG are likely due to impaired glycosylation of proteins and fats that are needed for normal function in many organs and tissues, including the brain, eyes, liver, and hormone-producing (endocrine) system.
Question:
Is ALG6-congenital disorder of glycosylation inherited ?

Answer:
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.
Question:
What are the treatments for ALG6-congenital disorder of glycosylation ?

Answer:
These resources address the diagnosis or management of ALG6-CDG:  - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview   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
Question:
What is (are) Gilbert syndrome ?

Answer:
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Gilbert syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice, which is yellowing of the skin and whites of the eyes.  Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.
Question:
How many people are affected by Gilbert syndrome ?

Answer:
Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans.
Question:
What are the genetic changes related to Gilbert syndrome ?

Answer:
Changes in the UGT1A1 gene cause Gilbert syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body.  The bilirubin-UGT enzyme performs a chemical reaction called glucuronidation. During this reaction, the enzyme transfers a compound called glucuronic acid to unconjugated bilirubin, converting it to conjugated bilirubin. Glucuronidation makes bilirubin dissolvable in water so that it can be removed from the body.  Gilbert syndrome occurs worldwide, but some mutations occur more often in particular populations. In many populations, the most common genetic change that causes Gilbert syndrome (known as UGT1A1*28) occurs in an area near the UGT1A1 gene called the promoter region, which controls the production of the bilirubin-UGT enzyme. This genetic change impairs enzyme production. However, this change is uncommon in Asian populations, and affected Asians often have a mutation that changes a single protein building block (amino acid) in the bilirubin-UGT enzyme. This type of mutation, known as a missense mutation, results in reduced enzyme function.  People with Gilbert syndrome have approximately 30 percent of normal bilirubin-UGT enzyme function. As a result, unconjugated bilirubin is not glucuronidated quickly enough. This toxic substance then builds up in the body, causing mild hyperbilirubinemia.  Not everyone with the genetic changes that cause Gilbert syndrome develops hyperbilirubinemia, indicating that additional factors, such as conditions that further hinder the glucuronidation process, may be necessary for development of the condition. For example, red blood cells may break down too easily, releasing excess amounts of bilirubin that the impaired enzyme cannot keep up with. Alternatively, movement of bilirubin into the liver, where it would be glucuronidated, may be impaired. These other factors may be due to changes in other genes.
Question:
Is Gilbert syndrome inherited ?

Answer:
Gilbert syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1*28 change in the promoter region of the UGT1A1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have the mutation. 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.  When the condition is caused by a missense mutation in the UGT1A1 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. A more severe condition known as Crigler-Najjar syndrome occurs when both copies of the UGT1A1 gene have mutations.
Question:
What are the treatments for Gilbert syndrome ?

Answer:
These resources address the diagnosis or management of Gilbert syndrome:  - Genetic Testing Registry: Gilbert's 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
Question:
What is (are) frontotemporal dementia with parkinsonism-17 ?

Answer:
Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a progressive brain disorder that affects behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's forties or fifties. Most affected people survive 5 to 10 years after the appearance of symptoms, although a few have survived for two decades or more.  Changes in personality and behavior are often early signs of FTDP-17. These changes include a loss of inhibition, inappropriate emotional responses, restlessness, neglect of personal hygiene, and a general loss of interest in activities and events. The disease also leads to deterioration of cognitive functions (dementia), including problems with judgment, planning, and concentration. Some people with FTDP-17 develop psychiatric symptoms, including obsessive-compulsive behaviors, delusions, and hallucinations. It may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living.  Many people with FTDP-17 develop problems with speech and language. They may have trouble finding words, confuse one word with another (semantic paraphasias), and repeat words spoken by others (echolalia). Difficulties with speech and language worsen over time, and most affected individuals eventually lose the ability to communicate.  FTDP-17 is also characterized by progressive problems with movement. Many affected individuals develop features of parkinsonism, including tremors, rigidity, and unusually slow movement (bradykinesia). As the disease progresses, most affected individuals become unable to walk. Some people with FTDP-17 also have restricted up-and-down eye movement (vertical gaze palsy) and rapid abnormal movements of both eyes (saccades).
Question:
How many people are affected by frontotemporal dementia with parkinsonism-17 ?

Answer:
The worldwide prevalence of FTDP-17 is unknown. In the Netherlands, where the disease prevalence has been studied, it is estimated to affect 1 in 1 million people. However, the disorder is likely underdiagnosed, so it may actually be more common than this.  FTDP-17 probably accounts for a small percentage of all cases of frontotemporal dementia.
Question:
What are the genetic changes related to frontotemporal dementia with parkinsonism-17 ?

Answer:
FTDP-17 is caused by mutations in the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name.  The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in assembling and stabilizing microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.  Mutations in the MAPT gene disrupt the normal structure and function of tau. The defective protein assembles into abnormal clumps within neurons and other brain cells. However, it is unclear what effect these clumps have on cell function and survival. FTDP-17 is characterized by the gradual death of cells in areas of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. A loss of cells in these brain regions leads to personality changes, speech difficulties, and the other features of FTDP-17.  FTDP-17 is one of several related diseases known as tauopathies, which are characterized by an abnormal buildup of tau in the brain.
Question:
Is frontotemporal dementia with parkinsonism-17 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.
Question:
What are the treatments for frontotemporal dementia with parkinsonism-17 ?

Answer:
These resources address the diagnosis or management of FTDP-17:  - Gene Review: Gene Review: MAPT-Related Disorders  - Genetic Testing Registry: Frontotemporal dementia   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
Question:
What is (are) mitochondrial trifunctional protein deficiency ?

Answer:
Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).  Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy).  Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
Question:
How many people are affected by mitochondrial trifunctional protein deficiency ?

Answer:
Mitochondrial trifunctional protein deficiency is a rare disorder; its incidence is unknown.
Question:
What are the genetic changes related to mitochondrial trifunctional protein deficiency ?

Answer:
Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.  Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all three functions of this enzyme complex. Without enough of this enzyme complex, long-chain fatty acids from food and body fat cannot be metabolized and processed. As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may also build up and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of mitochondrial trifunctional protein deficiency.
Question:
Is mitochondrial trifunctional protein deficiency inherited ?

Answer:
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.
Question:
What are the treatments for mitochondrial trifunctional protein deficiency ?

Answer:
These resources address the diagnosis or management of mitochondrial trifunctional protein deficiency:  - Baby's First Test  - Genetic Testing Registry: Mitochondrial trifunctional protein deficiency  - MedlinePlus Encyclopedia: Hypoglycemia  - MedlinePlus Encyclopedia: Peripheral Neuropathy   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
Question:
What is (are) Leydig cell hypoplasia ?

Answer:
Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.  In Leydig cell hypoplasia, affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Because of these abnormalities, the external genitalia may not look clearly male or clearly female (ambiguous genitalia).  In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. They have small testes that are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. People with this form of the disorder do not develop secondary sex characteristics, such as increased body hair, at puberty. Some researchers refer to this form of Leydig cell hypoplasia as type 1 and designate less severe cases as type 2.
Question:
How many people are affected by Leydig cell hypoplasia ?

Answer:
Leydig cell hypoplasia is a rare disorder; its prevalence is unknown.
Question:
What are the genetic changes related to Leydig cell hypoplasia ?

Answer:
Mutations in the LHCGR gene cause Leydig cell hypoplasia. The LHCGR gene provides instructions for making a protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function.  The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovary (ovulation). Chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue.  The LHCGR gene mutations that cause Leydig cell hypoplasia disrupt luteinizing hormone/chorionic gonadotropin receptor function, impeding the body's ability to react to these hormones. In males, the mutations result in poorly developed or absent Leydig cells and impaired production of testosterone. A lack of testosterone interferes with the development of male reproductive organs before birth and the changes that appear at puberty. Mutations that prevent the production of any functional receptor protein cause the more severe features of Leydig cell hypoplasia, and mutations that allow some receptor protein function cause milder signs and symptoms.
Question:
Is Leydig cell hypoplasia inherited ?

Answer:
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.  Only people who have mutations in both copies of the LHCGR gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of Leydig cell hypoplasia. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the LHCGR gene, they do not have Leydig cell hypoplasia because they do not have Leydig cells. They have normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than usual (after age 16) and have irregular menstrual periods. LHCGR gene mutations in females also prevent ovulation, leading to inability to have children (infertility).
Question:
What are the treatments for Leydig cell hypoplasia ?

Answer:
These resources address the diagnosis or management of Leydig cell hypoplasia:  - Genetic Testing Registry: Leydig cell agenesis  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Hypospadias  - MedlinePlus Encyclopedia: Intersex   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
Question:
What is (are) Mineral and Bone Disorder in Chronic Kidney Disease ?

Answer:
Mineral and bone disorder in CKD occurs when damaged kidneys and abnormal hormone levels cause calcium and phosphorus levels in a persons blood to be out of balance. Mineral and bone disorder commonly occurs in people with CKD and affects most people with kidney failure receiving dialysis.
                
In the past, health care providers used the term renal osteodystrophy to describe mineral and hormone disturbances caused by kidney disease. Today, renal osteodystrophy only describes bone problems that result from mineral and bone disorder in CKD. Health care providers might use the phrase chronic kidney disease mineral and bone disorder, or CKD-MBD, to describe the condition that affects the bones, heart, and blood vessels.
Question:
What is (are) Mineral and Bone Disorder in Chronic Kidney Disease ?

Answer:
Chronic kidney disease is kidney damage that occurs slowly over many years, often due to diabetes or high blood pressure. Once damaged, the kidneys cant filter blood as they should. This damage can cause wastes to build up in the body and other problems that can harm a persons health, including mineral and bone disorder.
Question:
What causes Mineral and Bone Disorder in Chronic Kidney Disease ?

Answer:
Chronic kidney disease causes mineral and bone disorder because the kidneys do not properly balance the mineral levels in the body. The kidneys
                
- stop activating calcitriol. The low levels of calcitriol in the body create an imbalance of calcium in the blood.  - do not remove the phosphorus in the blood properly, so phosphorus levels rise in the blood. The extra phosphorus pulls calcium out of the bones, causing them to weaken.
                
Another factor contributes to the cause of mineral and bone disorder. When the kidneys are damaged, the parathyroid gland releases parathyroid hormone into the blood to pull calcium from the bones and raise blood calcium levels. This response restores the balance of phosphorus and calcium; however, it also starves the bones of much-needed calcium.