umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to sensorineural deafness and male infertility ?

Answer: Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of a particular gene on chromosome 15, the STRC gene, is responsible for hearing loss in affected individuals. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for the sperm abnormalities and infertility in affected males. Researchers are working to determine how the loss of additional genes in the deleted region affects people with sensorineural deafness and male infertility.
Question: Is Leber congenital amaurosis inherited ?

Answer: Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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.  When Leber congenital amaurosis is caused by mutations in the CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations and occur in people with no history of the disorder in their family.
Question: What is (are) Anal Cancer ?

Answer: The anus is where stool leaves your body when you go to the bathroom. It is made up of your outer layers of skin and the end of your large intestine. Anal cancer is a disease in which cancer cells form in the tissues of the anus.    Anal cancer is rare. It is more common in smokers and people over 50. You are also at higher risk if you have HPV, have anal sex, or have many sexual partners.    Symptoms include bleeding, pain, or lumps in the anal area. Anal itching and discharge can also be signs of anal cancer.    Doctors use tests that examine the anus to diagnose anal cancer. They include a physical exam, endoscopy, ultrasound, and biopsy.    Treatments include radiation therapy, chemotherapy, and surgery.    NIH: National Cancer Institute
Question: Do you have information about Methamphetamine

Answer: Summary : Methamphetamine - meth for short - is a very addictive stimulant drug. It is a powder that can be made into a pill or a shiny rock (called a crystal). The powder can be eaten or snorted up the nose. It can also be mixed with liquid and injected into your body with a needle. Crystal meth is smoked in a small glass pipe.    Meth at first causes a rush of good feelings, but then users feel edgy, overly excited, angry, or afraid. Meth use can quickly lead to addiction. It causes medical problems including       - Making your body temperature so high that you pass out    - Severe itching    - "Meth mouth" - broken teeth and dry mouth    - Thinking and emotional problems       NIH: National Institute on Drug Abuse
Question: What is (are) Erectile Dysfunction ?

Answer: Erectile dysfunction (ED) is a common type of male sexual dysfunction. It is when a man has trouble getting or keeping an erection. ED becomes more common as you get older. But it's not a natural part of aging.    Some people have trouble speaking with their doctors about sex. But if you have ED, you should tell your doctor. ED can be a sign of health problems. It may mean your blood vessels are clogged. It may mean you have nerve damage from diabetes. If you don't see your doctor, these problems will go untreated.     Your doctor can offer several new treatments for ED. For many men, the answer is as simple as taking a pill. Getting more exercise, losing weight, or stopping smoking may also help.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: Do you have information about Pancreas Transplantation

Answer: Summary : The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. A pancreas transplant is surgery to place a healthy pancreas from a donor into a person with a diseased pancreas. It is mostly done for people with severe type 1 diabetes. It can allow them to give up insulin shots. An experimental procedure called islet cell transplantation transplants only the parts of the pancreas that make insulin.    People who have transplants must take drugs to keep their body from rejecting the new pancreas for the rest of their lives. They must also have regular follow-up care. Because of the risks, it is not a common treatment for type 1 diabetes.
Question: What is (are) Oral Cancer ?

Answer: Oral cancer can form in any part of the mouth or throat. Most oral cancers begin in the tongue and in the floor of the mouth. Anyone can get oral cancer, but the risk is higher if you are male, over age 40, use tobacco or alcohol or have a history of head or neck cancer. Frequent sun exposure is also a risk for lip cancer.     Symptoms of oral cancer include        -  White or red patches in your mouth    -  A mouth sore that won't heal    -  Bleeding in your mouth    - Loose teeth    -  Problems or pain with swallowing    -  A lump in your neck    -  An earache       Oral cancer treatments may include surgery, radiation therapy or chemotherapy. Some patients have a combination of treatments.     NIH: National Cancer Institute
Question: What is (are) Tracheal Disorders ?

Answer: Your trachea, or windpipe, is one part of your airway system. Airways are pipes that carry oxygen-rich air to your lungs. They also carry carbon dioxide, a waste gas, out of your lungs.     When you inhale, air travels from your nose, through your larynx, and down your windpipe. The windpipe splits into two bronchi that enter your lungs.    Problems with the trachea include narrowing, inflammation, and some inherited conditions. You may need a procedure called a tracheostomy to help you breathe if you have swallowing problems, or have conditions that affect coughing or block your airways. You might also need a tracheostomy if you are in critical care and need to be on a breathing machine.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Cellulitis ?

Answer: Cellulitis is an infection of the skin and deep underlying tissues. Group A strep (streptococcal) bacteria are the most common cause. The bacteria enter your body when you get an injury such as a bruise, burn, surgical cut, or wound.    Symptoms include       - Fever and chills    - Swollen glands or lymph nodes    - A rash with painful, red, tender skin. The skin may blister and scab over.       Your health care provider may take a sample or culture from your skin or do a blood test to identify the bacteria causing infection. Treatment is with antibiotics. They may be oral in mild cases, or intravenous (through the vein) for more severe cases.    NIH: National Institute of Allergy and Infectious Diseases
Question: What causes Pachyonychia congenita ?

Answer: What causes pachyonychia congenita? Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes alter the structure of keratin proteins which interferes with their ability to provide strength and resilience to various parts of the body. This leads to the many signs and symptoms associated with pachyonychia congenita. PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17.
Question: What is (are) Ocular cicatricial pemphigoid ?

Answer: Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.
Question: What is (are) Carnitine-acylcarnitine translocase deficiency ?

Answer: Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children.
Question: What is (are) 48,XXYY syndrome ?

Answer: 48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as anxiety, aggressiveness, problems communicating, hyperactivity, depression, as well as general learning disabilities and intellectual impairment.  Other medical probelms can include congenital heart defects, bone abnormalities, tremor, obesity, type 2 diabetes and/or respiratory problems. Patients have an essentially normal life expectancy but require regular medical follow-up.
Question: Is Ornithine transcarbamylase deficiency inherited ?

Answer: How is ornithine transcarbamylase (OTC) deficiency inherited? Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), mutations in both copies of the gene will cause the disorder. Some females with only one altered copy of the OTC gene also show signs and symptoms of OTC deficiency.
Question: What is (are) Olivopontocerebellar atrophy ?

Answer: Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. OPCA may also occur in people with prion disorders and inherited metabolic diseases. The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known. There is no cure for OPCA, and management aims to treat symptoms and prevent complications.
Question: What is (are) Farber's disease ?

Answer: Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner.
Question: What is (are) Maffucci syndrome ?

Answer: Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.
Question: What is (are) Medium-chain acyl-coenzyme A dehydrogenase deficiency ?

Answer: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with MCADD do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. MCADD is caused by mutations in the ACADM gene and is inherited in an autosomal recessive manner. Treatment includes avoidance of fasting and of medium chain triglycerides in the diet.
Question: What is (are) Gerstmann-Straussler-Scheinker disease ?

Answer: Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease, which is a group of conditions that affect the nervous system. Signs and symptoms generally develop between ages 35 and 50 years and may include progressive ataxia, cognitive dysfunction, slurred speech and spasticity. On average, people affected by GSS survive approximately 60 months (range 2 to 10 years) following diagnosis. It is caused by changes (mutations) in the PRNP gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For information on other prion diseases, please visit GARD's Creutzfeldt-Jakob disease and fatal familial insomnia pages.
Question: What is (are) Axial spondylometaphyseal dysplasia ?

Answer: Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.
Question: What is (are) Lynch syndrome ?

Answer: Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene.
Question: What is (are) Anaplastic astrocytoma ?

Answer: Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary depending on the location and size of the tumor and may include headaches, drowsiness, vomiting, and changes in personality or mental status. Some affected people have seizures, vision problems, weakness of the limbs, and/or coordination problems. Anaplastic astroctyomas usually occur sporadically but can be associated with a few rare, genetic disorders. Treatment may include surgery, radiation, and/or chemotherapy.
Question: What is (are) Juvenile dermatomyositis ?

Answer: Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected.  About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes.
Question: What is (are) Dysgraphia ?

Answer: Dysgraphia is a neurological disorder characterized by writing disabilities. Specifically, the disorder causes a person's writing to be distorted or incorrect. In children, the disorder generally emerges when they are first introduced to writing. They make inappropriately sized and spaced letters, or write wrong or misspelled words, despite thorough instruction. Children with the disorder may have other learning disabilities; however, they usually have no social or other academic problems. Cases of dysgraphia in adults generally occur after some trauma. In addition to poor handwriting, dysgraphia is characterized by wrong or odd spelling, and production of words that are not correct (i.e., using "boy" for "child"). The cause of the disorder is unknown, but in adults, it is usually associated with damage to the parietal lobe of the brain.
Question: What are the genetic changes related to metatropic dysplasia ?

Answer: Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. The channel is found in many types of cells, but little is known about its function. Studies suggest that it plays a role in the normal development of cartilage and bone. This role would help explain why TRPV4 gene mutations cause the skeletal abnormalities characteristic of metatropic dysplasia. Mutations in the TRPV4 gene appear to overactivate the channel, increasing the flow of calcium ions into cells. However, it remains unclear how changes in the activity of the calcium channel lead to the specific features of the condition.
Question: What are the genetic changes related to Coffin-Lowry syndrome ?

Answer: Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. This gene provides instructions for making a protein that is involved in signaling within cells. Researchers believe that this protein helps control the activity of other genes and plays an important role in the brain. The protein is involved in cell signaling pathways that are required for learning, the formation of long-term memories, and the survival of nerve cells. Gene mutations result in the production of little or no RPS6KA3 protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin-Lowry syndrome.  Some people with the features of Coffin-Lowry syndrome do not have identified mutations in the RPS6KA3 gene. In these cases, the cause of the condition is unknown.
Question: Is lactose intolerance inherited ?

Answer: The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern, which means both copies of the LCT 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.  The ability to digest lactose into adulthood depends on which variations in the regulatory element within the MCM6 gene individuals have inherited from their parents. The variations that promote continued lactase production are considered autosomal dominant, which means one copy of the altered regulatory element in each cell is sufficient to sustain lactase production. People who have not inherited these variations from either parent will have some degree of lactose intolerance.
Question: What are the genetic changes related to phosphoglycerate kinase deficiency ?

Answer: Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.  Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.
Question: What are the treatments for distal hereditary motor neuropathy, type V ?

Answer: These resources address the diagnosis or management of distal hereditary motor neuropathy, type V:  - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy  - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy  - Genetic Testing Registry: Distal hereditary motor neuronopathy type 5  - Genetic Testing Registry: Distal hereditary motor neuronopathy type 5B  - MedlinePlus Encyclopedia: High-Arched Foot   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