randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : genetic changes 
 What are the genetic changes related to tarsal-carpal coalition syndrome ? 
 Tarsal-carpal coalition syndrome is caused by mutations in the NOG gene, which provides instructions for making a protein called noggin. This protein plays an important role in proper bone and joint development by blocking (inhibiting) signals that stimulate bone formation. The noggin protein attaches (binds) to proteins called bone morphogenetic proteins (BMPs), which keeps the BMPs from triggering signals for the development of bone.  NOG gene mutations that cause tarsal-carpal coalition syndrome reduce the amount of functional noggin protein. With decreased noggin function, BMPs abnormally stimulate bone formation in joint areas, where there should be no bone, causing the bone fusions seen in people with tarsal-carpal coalition syndrome.  Mutations in the NOG gene are involved in several disorders with overlapping signs and symptoms. Because of a shared genetic cause and overlapping features, researchers have suggested that these conditions, including tarsal-carpal coalition syndrome, represent a spectrum of related conditions referred to as NOG-related-symphalangism spectrum disorder (NOG-SSD).
This is a medical question of type : inheritance 
 Is tarsal-carpal coalition syndrome 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.
This is a medical question of type : treatment 
 What are the treatments for tarsal-carpal coalition syndrome ? 
 These resources address the diagnosis or management of tarsal-carpal coalition syndrome:  - Foot Health Facts: Tarsal Coalition  - Genetic Testing Registry: Tarsal carpal coalition 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
This is a medical question of type : information 
 What is (are) persistent Mllerian duct syndrome ? 
 Persistent Mllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Mllerian duct during development of the fetus. The Mllerian duct usually breaks down during early development in males, but it is retained in those with persistent Mllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.  The first noted signs and symptoms in males with persistent Mllerian duct syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are typically discovered when surgery is performed to treat these conditions.  The testes and female reproductive organs can be located in unusual positions in persistent Mllerian duct syndrome. Occasionally, both testes are undescended (bilateral cryptorchidism) and the uterus is in the pelvis. More often, one testis has descended into the scrotum normally, and one has not. Sometimes, the descended testis pulls the fallopian tube and uterus into the track through which it has descended. This creates a condition called hernia uteri inguinalis, a form of inguinal hernia. In other cases, the undescended testis from the other side of the body is also pulled into the same track, forming an inguinal hernia. This condition, called transverse testicular ectopia, is common in people with persistent Mllerian duct syndrome.  Other effects of persistent Mllerian duct syndrome may include the inability to father children (infertility) or blood in the semen (hematospermia). Also, the undescended testes may break down (degenerate) or develop cancer if left untreated.
This is a medical question of type : frequency 
 How many people are affected by persistent Mllerian duct syndrome ? 
 Persistent Mllerian duct syndrome is a rare disorder; however, the prevalence of the condition is unknown.
This is a medical question of type : genetic changes 
 What are the genetic changes related to persistent Mllerian duct syndrome ? 
 Most people with persistent Mllerian duct syndrome have mutations in the AMH gene or the AMHR2 gene. The AMH gene provides instructions for making a protein called anti-Mllerian hormone (AMH). The AMHR2 gene provides instructions for making a protein called AMH receptor type 2.  The AMH protein and AMH receptor type 2 protein are involved in male sex differentiation. All fetuses develop the Mllerian duct, the precursor to female reproductive organs. During development of a male fetus, these two proteins work together to induce breakdown (regression) of the Mllerian duct. Mutations in the AMH and AMHR2 genes lead to nonfunctional proteins that cannot signal for regression of the Mllerian duct. As a result of these mutations, the Mllerian duct persists and goes on to form a uterus and fallopian tubes.  Approximately 45 percent of cases of persistent Mllerian duct syndrome are caused by mutations in the AMH gene and are called persistent Mllerian duct syndrome type 1. Approximately 40 percent of cases are caused by mutations in the AMHR2 gene and are called persistent Mllerian duct syndrome type 2. In the remaining 15 percent of cases, no mutations in the AMH and AMHR2 genes have been identified, and the genes involved in causing the condition are unknown.
This is a medical question of type : inheritance 
 Is persistent Mllerian duct 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. However, persistent Mllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition.
This is a medical question of type : treatment 
 What are the treatments for persistent Mllerian duct syndrome ? 
 These resources address the diagnosis or management of persistent Mllerian duct syndrome:  - Genetic Testing Registry: Persistent Mullerian duct syndrome  - MedlinePlus Encyclopedia: Undescended testicle repair   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
This is a medical question of type : information 
 What is (are) deoxyguanosine kinase deficiency ? 
 Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain.  Newborns with the hepatocerebral form of deoxyguanosine kinase deficiency may have a buildup of lactic acid in the body (lactic acidosis) within the first few days after birth. They may also have weakness, behavior changes such as poor feeding and decreased activity, and vomiting. Affected newborns sometimes have low blood sugar (hypoglycemia) as a result of liver dysfunction. During the first few weeks of life they begin showing other signs of liver disease which may result in liver failure. They also develop progressive neurological problems including very weak muscle tone (severe hypotonia), abnormal eye movements (nystagmus) and the loss of skills they had previously acquired (developmental regression). Children with this form of the disorder usually do not survive past the age of 2 years.  Some individuals with deoxyguanosine kinase deficiency have a milder form of the disorder without severe neurological problems. Liver disease is the primary symptom of this form of the disorder, generally becoming evident during infancy or childhood. Occasionally it first appears after an illness such as a viral infection. Affected individuals may also develop kidney problems. Mild hypotonia is the only neurological effect associated with this form of the disorder.
This is a medical question of type : frequency 
 How many people are affected by deoxyguanosine kinase deficiency ? 
 The prevalence of deoxyguanosine kinase deficiency is unknown. Approximately 100 affected individuals have been identified.
This is a medical question of type : genetic changes 
 What are the genetic changes related to deoxyguanosine kinase deficiency ? 
 The DGUOK gene provides instructions for making the enzyme deoxyguanosine kinase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. Deoxyguanosine kinase is involved in producing and maintaining the building blocks of mitochondrial DNA.  Mutations in the DGUOK gene reduce or eliminate the activity of the deoxyguanosine kinase enzyme. Reduced enzyme activity leads to problems with the production and maintenance of mitochondrial DNA. A reduction in the amount of mitochondrial DNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the neurological and liver dysfunction associated with deoxyguanosine kinase deficiency.
This is a medical question of type : inheritance 
 Is deoxyguanosine kinase deficiency inherited ? 
 Deoxyguanosine kinase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In most cases, the parents of an individual with this condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This is a medical question of type : treatment 
 What are the treatments for deoxyguanosine kinase deficiency ? 
 These resources address the diagnosis or management of deoxyguanosine kinase deficiency:  - Gene Review: Gene Review: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form  - Genetic Testing Registry: Mitochondrial DNA-depletion syndrome 3, hepatocerebral  - MedlinePlus Encyclopedia: Hypotonia   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
This is a medical question of type : information 
 What is (are) 17 alpha-hydroxylase/17,20-lyase deficiency ? 
 17 alpha()-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.  Hormone imbalances lead to the characteristic signs and symptoms of 17-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17-hydroxylase/17,20-lyase deficiency, which is typically less so.  Males and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility).  In affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Males with partial 17-hydroxylase/17,20-lyase deficiency usually have abnormal male genitalia, such as 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). Males with either complete or partial 17-hydroxylase/17,20-lyase deficiency are also infertile.
This is a medical question of type : frequency 
 How many people are affected by 17 alpha-hydroxylase/17,20-lyase deficiency ? 
 17-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million people worldwide.
This is a medical question of type : genetic changes 
 What are the genetic changes related to 17 alpha-hydroxylase/17,20-lyase deficiency ? 
 17-hydroxylase/17,20-lyase deficiency is caused by mutations in the CYP17A1 gene. The protein produced from this gene is involved in the formation of steroid hormones. This group of hormones includes sex hormones such as testosterone and estrogen, which are needed for normal sexual development and reproduction; mineralocorticoids, which help regulate the body's salt and water balance; and glucocorticoids, which are involved in maintaining blood sugar levels and regulating the body's response to stress.  Steroid hormones are produced through a series of chemical reactions. The CYP17A1 enzyme performs two important reactions in this process. The enzyme has 17 alpha()-hydroxylase activity, which is important for production of glucocorticoids and sex hormones. CYP17A1 also has 17,20-lyase activity, which is integral to the production of sex hormones.  17-hydroxylase/17,20-lyase deficiency results from a shortage (deficiency) of both enzyme activities. The amount of remaining enzyme activity determines whether a person will have the complete or partial form of the disorder. Individuals with the complete form have CYP17A1 gene mutations that result in the production of an enzyme with very little or no 17-hydroxylase and 17,20-lyase activity. People with the partial form of this condition have CYP17A1 gene mutations that allow some enzyme activity, although at reduced levels.  With little or no 17-hydroxylase activity, production of glucocorticoids is impaired, and instead, mineralocorticoids are produced. An excess of these salt-regulating hormones leads to hypertension and hypokalemia.  Loss of 17,20-lyase activity impairs sex hormone production. Shortage of these hormones disrupts development of the reproductive system and impairs the onset of puberty in males and females with 17-hydroxylase/17,20-lyase deficiency.
This is a medical question of type : inheritance 
 Is 17 alpha-hydroxylase/17,20-lyase deficiency 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.
This is a medical question of type : treatment 
 What are the treatments for 17 alpha-hydroxylase/17,20-lyase deficiency ? 
 These resources address the diagnosis or management of 17 alpha-hydroxylase/17,20-lyase deficiency:  - Genetic Testing Registry: Deficiency of steroid 17-alpha-monooxygenase   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
This is a medical question of type : information 
 What is (are) aceruloplasminemia ? 
 Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.  People with aceruloplasminemia develop a variety of movement problems. They may experience involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive movements and contortions. Other involuntary movements may also occur, such as rhythmic shaking (tremors), jerking movements (chorea), eyelid twitching (blepharospasm), and grimacing. Affected individuals may also have difficulty with coordination (ataxia). Some develop psychiatric problems and a decline of intellectual function (dementia) in their forties or fifties.  In addition to neurological problems, affected individuals may have diabetes mellitus caused by iron damage to cells in the pancreas that make insulin, a hormone that helps control blood sugar levels. Iron accumulation in the pancreas reduces the cells' ability to make insulin, which impairs blood sugar regulation and leads to the signs and symptoms of diabetes.  Iron accumulation in the tissues and organs results in a corresponding shortage (deficiency) of iron in the blood, leading to a shortage of red blood cells (anemia). Anemia and diabetes usually occur by the time an affected person is in his or her twenties.  Affected individuals also have changes in the light-sensitive tissue at the back of the eye (retina) caused by excess iron. The changes result in small opaque spots and areas of tissue degeneration (atrophy) around the edges of the retina. These abnormalities usually do not affect vision but can be observed during an eye examination.  The specific features of aceruloplasminemia and their severity may vary, even within the same family.
This is a medical question of type : frequency 
 How many people are affected by aceruloplasminemia ? 
 Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 2 million adults in this population are affected.
This is a medical question of type : genetic changes 
 What are the genetic changes related to aceruloplasminemia ? 
 Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells to help carry oxygen.  CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or they prevent the protein from being released (secreted) by the cells in which it is made. When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction, and the other health problems seen in aceruloplasminemia.
This is a medical question of type : inheritance 
 Is aceruloplasminemia 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.
This is a medical question of type : treatment 
 What are the treatments for aceruloplasminemia ? 
 These resources address the diagnosis or management of aceruloplasminemia:  - Gene Review: Gene Review: Aceruloplasminemia  - Genetic Testing Registry: Deficiency of ferroxidase   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
This is a medical question of type : information 
 What is (are) complement factor I deficiency ? 
 Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening.  Some people with complement factor I deficiency have a kidney disorder called glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can also be associated with autoimmune disorders such as rheumatoid arthritis or systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs.
This is a medical question of type : frequency 
 How many people are affected by complement factor I deficiency ? 
 Complement factor I deficiency is a rare disorder; its exact prevalence is unknown. At least 38 cases have been reported in the medical literature.
This is a medical question of type : genetic changes 
 What are the genetic changes related to complement factor I deficiency ? 
 Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not attack the body's healthy cells. Complement factor I and several related proteins protect healthy cells by preventing activation of the complement system when it is not needed.  Mutations in the CFI gene that cause complement factor I deficiency result in abnormal, nonfunctional, or absent complement factor I. The lack (deficiency) of functional complement factor I protein allows uncontrolled activation of the complement system. The unregulated activity of the complement system decreases blood levels of another complement protein called C3, reducing the immune system's ability to fight infections. In addition, the immune system may malfunction and attack its own tissues, resulting in autoimmune disorders.
This is a medical question of type : inheritance 
 Is complement factor I deficiency 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.