sarnsrun/medquad huggingface dataset:
Topic: D-bifunctional protein deficiency
Question: What are the genetic changes related to D-bifunctional protein deficiency ?
Answer: D-bifunctional protein deficiency is caused by mutations in the HSD17B4 gene. The protein produced from this gene (D-bifunctional protein) is an enzyme, which means that it helps specific biochemical reactions to take place. The D-bifunctional protein is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The D-bifunctional protein is involved in the breakdown of certain molecules called fatty acids. The protein has two separate regions (domains) with enzyme activity, called the hydratase and dehydrogenase domains. These domains help carry out the second and third steps, respectively, of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the fatty acid molecules by two carbon atoms at a time until the fatty acids are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell.  HSD17B4 gene mutations that cause D-bifunctional protein deficiency can affect one or both of the protein's functions; however, this distinction does not seem to affect the severity or features of the disorder. Impairment of one or both of the protein's enzymatic activities prevents the D-bifunctional protein from breaking down fatty acids efficiently. As a result, these fatty acids accumulate in the body. It is unclear how fatty acid accumulation leads to the specific neurological and non-neurological features of D-bifunctional protein deficiency. However, the accumulation may result in abnormal development of the brain and the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Abnormal brain development and leukodystrophy likely underlie the neurological abnormalities that occur in D-bifunctional protein deficiency.
Source: GHR
Topic: D-bifunctional protein deficiency
Question: Is D-bifunctional 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.
Source: GHR
Topic: D-bifunctional protein deficiency
Question: What are the treatments for D-bifunctional protein deficiency ?
Answer: These resources address the diagnosis or management of D-bifunctional protein deficiency:  - Gene Review: Gene Review: Leukodystrophy Overview  - Genetic Testing Registry: Bifunctional peroxisomal enzyme deficiency   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: collagen VI-related myopathy
Question: What is (are) collagen VI-related myopathy ?
Answer: Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe.  People with Bethlem myopathy usually have loose joints (joint laxity) and weak muscle tone (hypotonia) in infancy, but they develop contractures during childhood, typically in their fingers, wrists, elbows, and ankles. Muscle weakness can begin at any age but often appears in childhood to early adulthood. The muscle weakness is slowly progressive, with about two-thirds of affected individuals over age 50 needing walking assistance. Older individuals may develop weakness in respiratory muscles, which can cause breathing problems. Some people with this mild form of collagen VI-related myopathy have skin abnormalities, including small bumps called follicular hyperkeratosis on the arms and legs; soft, velvety skin on the palms of the hands and soles of the feet; and abnormal wound healing that creates shallow scars.  The intermediate form of collagen VI-related myopathy is characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected people, the respiratory muscles are weakened, requiring people to use a machine to help them breathe (mechanical ventilation), particularly during sleep.  People with Ullrich congenital muscular dystrophy have severe muscle weakness beginning soon after birth. Some affected individuals are never able to walk and others can walk only with support. Those who can walk often lose the ability, usually in adolescence. Individuals with Ullrich congenital muscular dystrophy develop contractures in their neck, hips, and knees, which further impair movement. There may be joint laxity in the fingers, wrists, toes, ankles, and other joints. Some affected individuals need continuous mechanical ventilation to help them breathe. As in Bethlem myopathy, some people with Ullrich congenital muscular dystrophy have follicular hyperkeratosis; soft, velvety skin on the palms and soles; and abnormal wound healing.  Individuals with collagen VI-related myopathy often have signs and symptoms of multiple forms of this condition, so it can be difficult to assign a specific diagnosis. The overlap in disease features, in addition to their common cause, is why these once separate conditions are now considered part of the same disease spectrum.
Source: GHR
Topic: collagen VI-related myopathy
Question: How many people are affected by collagen VI-related myopathy ?
Answer: Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature.
Source: GHR
Topic: collagen VI-related myopathy
Question: What are the genetic changes related to collagen VI-related myopathy ?
Answer: Mutations in the COL6A1, COL6A2, and COL6A3 genes can cause the various forms of collagen VI-related myopathy. These genes each provide instructions for making one component of a protein called type VI collagen. Type VI collagen makes up part of the extracellular matrix that surrounds muscle cells and connective tissue. This matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular matrix is necessary for cell stability and growth. Research suggests that type VI collagen helps secure and organize the extracellular matrix by linking the matrix to the cells it surrounds.  Mutations in the COL6A1, COL6A2, and COL6A3 genes result in a decrease or lack of type VI collagen or the production of abnormal type VI collagen. While it is difficult to predict which type of mutation will lead to which form of collagen VI-related myopathy, in general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life.  Changes in type VI collagen structure or production lead to an unstable extracellular matrix that is no longer attached to cells. As a result, the stability of the surrounding muscle cells and connective tissue progressively declines, which leads to the muscle weakness, contractures, and other signs and symptoms of collagen VI-related myopathy.
Source: GHR
Topic: collagen VI-related myopathy
Question: Is collagen VI-related myopathy inherited ?
Answer: Collagen VI-related myopathy can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Bethlem myopathy is typically inherited in an autosomal dominant manner, as are some cases of the intermediate form and a few rare instances of Ullrich congenital muscular dystrophy. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.  Collagen VI-related myopathy can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive manner, as are some cases of the intermediate form and a few rare instances of Bethlem myopathy. 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.
Source: GHR
Topic: collagen VI-related myopathy
Question: What are the treatments for collagen VI-related myopathy ?
Answer: These resources address the diagnosis or management of collagen VI-related myopathy:  - Gene Review: Gene Review: Collagen Type VI-Related Disorders  - Genetic Testing Registry: Bethlem myopathy  - Genetic Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy  - Genetic Testing Registry: Collagen VI-related myopathy  - Genetic Testing Registry: Ullrich congenital muscular dystrophy  - Muscular Dystrophy UK: Could Cyclosporine A be used to treat Bethlem myopathy and Ullrich congenital muscular dystrophy?   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: combined malonic and methylmalonic aciduria
Question: What is (are) combined malonic and methylmalonic aciduria ?
Answer: Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.  The signs and symptoms of CMAMMA can begin in childhood. In some children, the buildup of acids causes the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs. Other signs and symptoms may include involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected children have an unusually small head size (microcephaly).  Other people with CMAMMA do not develop signs and symptoms until adulthood. These individuals usually have neurological problems, such as seizures, loss of memory, a decline in thinking ability, or psychiatric diseases.
Source: GHR
Topic: combined malonic and methylmalonic aciduria
Question: How many people are affected by combined malonic and methylmalonic aciduria ?
Answer: CMAMMA appears to be a rare disease. Approximately a dozen cases have been reported in the scientific literature.
Source: GHR
Topic: combined malonic and methylmalonic aciduria
Question: What are the genetic changes related to combined malonic and methylmalonic aciduria ?
Answer: Mutations in the ACSF3 gene cause CMAMMA. This gene provides instructions for making an enzyme that plays a role in the formation (synthesis) of fatty acids. Fatty acids are building blocks used to make fats (lipids). The ACSF3 enzyme performs a chemical reaction that converts malonic acid to malonyl-CoA, which is the first step of fatty acid synthesis in cellular structures called mitochondria. Based on this activity, the enzyme is classified as a malonyl-CoA synthetase. The ACSF3 enzyme also converts methylmalonic acid to methylmalonyl-CoA, making it a methylmalonyl-CoA synthetase as well.  The effects of ACSF3 gene mutations are unknown. Researchers suspect that the mutations lead to altered enzymes that have little or no function. Because the enzyme cannot convert malonic and methylmalonic acids, they build up in the body. Damage to organs and tissues caused by accumulation of these acids may be responsible for the signs and symptoms of CMAMMA, although the mechanisms are unclear.
Source: GHR
Topic: combined malonic and methylmalonic aciduria
Question: Is combined malonic and methylmalonic aciduria 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.
Source: GHR
Topic: combined malonic and methylmalonic aciduria
Question: What are the treatments for combined malonic and methylmalonic aciduria ?
Answer: These resources address the diagnosis or management of CMAMMA:  - Genetic Testing Registry: Combined malonic and methylmalonic aciduria  - Organic Acidemia Association: What are Organic Acidemias?   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: retroperitoneal fibrosis
Question: What is (are) retroperitoneal fibrosis ?
Answer: Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. Retroperitoneal fibrosis can occur at any age but appears most frequently between the ages of 40 and 60.  The inflamed tissue characteristic of retroperitoneal fibrosis typically causes gradually increasing pain in the lower abdomen, back, or side. Other symptoms arise from blockage of blood flow to and from various parts of the lower body, due to the development of scar tissue around blood vessels. The fibrosis usually develops first around the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Additional blood vessels including the inferior vena cava, which returns blood from the lower part of the body to the heart, may also be involved. Obstruction of blood flow to and from the legs can result in pain, changes in color, and swelling in these limbs. Impairment of blood flow in the intestines may lead to death (necrosis) of intestinal tissue, severe pain, and excessive bleeding (hemorrhage). In men, reduced blood flow back toward the heart (venous flow) may cause swelling of the scrotum.  Because the kidneys are located in the retroperitoneal space, retroperitoneal fibrosis may result in blockage of the ureters, which are tubes that carry urine from each kidney to the bladder. Such blockages can lead to decreased or absent urine flow and kidney failure. When the kidneys fail, toxic substances build up in the blood and tissues, leading to nausea, vomiting, weight loss, itching, a low number of red blood cells (anemia), and changes in brain function.
Source: GHR
Topic: retroperitoneal fibrosis
Question: How many people are affected by retroperitoneal fibrosis ?
Answer: Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. The disorder occurs approximately twice as often in men as it does in women, but the reason for this difference is unclear.
Source: GHR
Topic: retroperitoneal fibrosis
Question: What are the genetic changes related to retroperitoneal fibrosis ?
Answer: No genes associated with retroperitoneal fibrosis have been identified.  Retroperitoneal fibrosis occasionally occurs with autoimmune disorders, which result when the immune system malfunctions and attacks the body's own organs and tissues. Researchers suggest that the immune system may be involved in the development of retroperitoneal fibrosis. They propose that the immune system may be reacting abnormally to blood vessels damaged by fatty buildup (atherosclerosis) or to certain drugs, infections, or trauma. In many cases, the reason for the abnormal immune system reaction is unknown. Such cases are described as idiopathic.
Source: GHR
Topic: retroperitoneal fibrosis
Question: Is retroperitoneal fibrosis inherited ?
Answer: Most cases of retroperitoneal fibrosis are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In rare cases, the condition has been reported to occur in a few members of the same family, but the inheritance pattern is unknown.
Source: GHR
Topic: retroperitoneal fibrosis
Question: What are the treatments for retroperitoneal fibrosis ?
Answer: These resources address the diagnosis or management of retroperitoneal fibrosis:  - Johns Hopkins Medicine   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: holocarboxylase synthetase deficiency
Question: What is (are) holocarboxylase synthetase deficiency ?
Answer: Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.  The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management with biotin supplements may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.
Source: GHR
Topic: holocarboxylase synthetase deficiency
Question: How many people are affected by holocarboxylase synthetase deficiency ?
Answer: The exact incidence of this condition is unknown, but it is estimated to affect 1 in 87,000 people.
Source: GHR
Topic: holocarboxylase synthetase deficiency
Question: What are the genetic changes related to holocarboxylase synthetase deficiency ?
Answer: Mutations in the HLCS gene cause holocarboxylase synthetase deficiency.  The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attaches biotin to certain enzymes that are essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the enzyme's ability to attach biotin to these enzymes, preventing them from processing nutrients properly and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase synthetase deficiency.
Source: GHR
Topic: holocarboxylase synthetase deficiency
Question: Is holocarboxylase synthetase 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.
Source: GHR
Topic: holocarboxylase synthetase deficiency
Question: What are the treatments for holocarboxylase synthetase deficiency ?
Answer: These resources address the diagnosis or management of holocarboxylase synthetase deficiency:  - Baby's First Test  - Genetic Testing Registry: Holocarboxylase synthetase deficiency  - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin   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: X-linked agammaglobulinemia
Question: What is (are) X-linked agammaglobulinemia ?
Answer: X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. Individuals with XLA are more susceptible to infections because their body makes very few antibodies.  Children with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. In children with XLA, infections generally take longer to get better and then they come back again, even with antibiotic medications. The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. People with XLA can develop severe, life-threatening bacterial infections; however, affected individuals are not particularly vulnerable to infections caused by viruses. With treatment to replace antibodies, infections can usually be prevented, improving the quality of life for people with XLA.
Source: GHR
Topic: X-linked agammaglobulinemia
Question: How many people are affected by X-linked agammaglobulinemia ?
Answer: XLA occurs in approximately 1 in 200,000 newborns.
Source: GHR
Topic: X-linked agammaglobulinemia
Question: What are the genetic changes related to X-linked agammaglobulinemia ?
Answer: Mutations in the BTK gene cause XLA. This gene provides instructions for making the BTK protein, which is important for the development of B cells and normal functioning of the immune system. Most mutations in the BTK gene prevent the production of any BTK protein. The absence of functional BTK protein blocks B cell development and leads to a lack of antibodies. Without antibodies, the immune system cannot properly respond to foreign invaders and prevent infection.
Source: GHR