umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to familial glucocorticoid deficiency ?

Answer: Mutations in the MC2R, MRAP, and NNT genes account for the majority of cases of familial glucocorticoid deficiency; mutations in other genes, some known and some unidentified, can also cause this condition.  The MC2R gene provides instructions for making a protein called adrenocorticotropic hormone (ACTH) receptor, which is found primarily in the adrenal glands. The protein produced from the MRAP gene transports the ACTH receptor from the interior of the cell to the cell membrane. When the ACTH receptor is embedded within the cell membrane, it is turned on (activated) by the MRAP protein. Activated ACTH receptor can then attach (bind) to ACTH, and this binding triggers the adrenal glands to produce glucocorticoids. MC2R gene mutations lead to the production of a receptor that cannot be transported to the cell membrane or, if it does get to the cell membrane, cannot bind to ACTH. MRAP gene mutations impair the transport of the ACTH receptor to the cell membrane. Without the binding of the ACTH receptor to its hormone, there is no signal to trigger the adrenal glands to produce glucocorticoids.  The NNT gene provides instructions for making an enzyme called nicotinamide nucleotide transhydrogenase. This enzyme is found embedded in the inner membrane of structures called mitochondria, which are the energy-producing centers of cells. This enzyme helps produce a substance called NADPH, which is involved in removing potentially toxic molecules called reactive oxygen species that can damage DNA, proteins, and cell membranes. NNT gene mutations impair the enzyme's ability to produce NADPH, leading to an increase in reactive oxygen species in adrenal gland tissues. Over time, these toxic molecules can impair the function of adrenal gland cells and lead to their death (apoptosis), diminishing the production of glucocorticoids.
Question: What is (are) COL4A1-related brain small-vessel disease ?

Answer: COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke), although either type can occur. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. People with COL4A1-related brain small vessel disease also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras.  Some people with COL4A1-related brain small-vessel disease have an eye abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing of the colored part of the eye (iris) and a pupil that is not in the center of the eye. Other eye problems experienced by people with COL4A1-related brain small-vessel disease include clouding of the lens of the eye (cataract) and the presence of arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eye (arterial retinal tortuosity). Axenfeld-Rieger anomaly and cataract can cause impaired vision. Arterial retinal tortuosity can cause episodes of bleeding within the eye following any minor trauma to the eye, leading to temporary vision loss.  The severity of the condition varies greatly among affected individuals. Some individuals with COL4A1-related brain small-vessel disease do not have any signs or symptoms of the condition.
Question: What are the genetic changes related to rheumatoid arthritis ?

Answer: Rheumatoid arthritis probably results from a combination of genetic and environmental factors, many of which are unknown.  Rheumatoid arthritis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with rheumatoid arthritis, the immune system triggers abnormal inflammation in the membrane that lines the joints (the synovium). When the synovium is inflamed, it causes pain, swelling, and stiffness of the joint. In severe cases, the inflammation also affects the bone, cartilage, and other tissues within the joint, causing more serious damage. Abnormal immune reactions also underlie the features of rheumatoid arthritis affecting other parts of the body.  Variations in dozens of genes have been studied as risk factors for rheumatoid arthritis. Most of these genes are known or suspected to be involved in immune system function. The most significant genetic risk factors for rheumatoid arthritis are variations in human leukocyte antigen (HLA) genes, especially the HLA-DRB1 gene. The proteins produced from HLA genes help the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Changes in other genes appear to have a smaller impact on a person's overall risk of developing the condition.  Other, nongenetic factors are also believed to play a role in rheumatoid arthritis. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), occupational exposure to certain kinds of dust or fibers, and viral or bacterial infections. Long-term smoking is a well-established risk factor for developing rheumatoid arthritis; it is also associated with more severe signs and symptoms in people who have the disease.
Question: What is (are) infantile neuroaxonal dystrophy ?

Answer: Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly.  Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement. They generally have muscles that are at first weak and "floppy" (hypotonic), and then gradually become very stiff (spastic). Eventually, affected children lose the ability to move independently. Lack of muscle strength causes difficulty with feeding. Muscle weakness can also result in breathing problems that can lead to frequent infections, such as pneumonia. Seizures occur in some affected children.  Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and vision loss due to deterioration (atrophy) of the nerve that carries information from the eye to the brain (the optic nerve) often occur in infantile neuroaxonal dystrophy. Hearing loss may also develop. Children with this disorder experience progressive deterioration of cognitive functions (dementia), and they eventually lose awareness of their surroundings.  Infantile neuroaxonal dystrophy is characterized by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells (neurons) and transmit impulses to muscles and other neurons. In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia. The relationship of these features to the symptoms of infantile neuroaxonal dystrophy is unknown.
Question: How to prevent Diabetes ?

Answer: Your weight affects your health in many ways. Being overweight can keep your body from making and using insulin properly. It can also cause high blood pressure. If you are overweight or obese, choose sensible ways to reach and maintain a reasonable body weight. - Make healthy food choices. What you eat has a big impact on your weight and overall health. By developing healthy eating habits you can help control your body weight, blood pressure, and cholesterol. Reducing portion size, increasing the amount of fiber you consume (by eating more fruits and vegetables) and limiting fatty and salty foods are key to a healthy diet. Make healthy food choices. What you eat has a big impact on your weight and overall health. By developing healthy eating habits you can help control your body weight, blood pressure, and cholesterol. Reducing portion size, increasing the amount of fiber you consume (by eating more fruits and vegetables) and limiting fatty and salty foods are key to a healthy diet. -  Get at least 30 minutes of exercise at least five days a week. Regular exercise reduces diabetes risk in several ways: it helps you lose weight, controls your cholesterol and blood pressure, and improves your body's use of insulin. Many people make walking part of their daily routine because it's easy, fun and convenient. But you can choose any activity that gets you moving. It's fine to break up your 30 minutes of exercise into smaller increments, such as three 10-minute periods. Check with your doctor before beginning any exercise program.   Get at least 30 minutes of exercise at least five days a week. Regular exercise reduces diabetes risk in several ways: it helps you lose weight, controls your cholesterol and blood pressure, and improves your body's use of insulin. Many people make walking part of their daily routine because it's easy, fun and convenient. But you can choose any activity that gets you moving. It's fine to break up your 30 minutes of exercise into smaller increments, such as three 10-minute periods. Check with your doctor before beginning any exercise program.
Question: What is (are) Knee Replacement ?

Answer: There are many different types and designs of artificial knees. Most consist of three components: -  the femoral component, which is the part that attaches to the thigh bone  - the tibial component, the part that attaches to the shin bone   - the patellar component, the knee cap. the femoral component, which is the part that attaches to the thigh bone the tibial component, the part that attaches to the shin bone the patellar component, the knee cap. Total and Partial Knee Replacement Knee replacement may be either total or partial/unicompartmental. In total knee replacement, as the name suggests, the entire knee joint is replaced. You will likely need a total knee replacement if you have damage to several parts of your knee. In partial/unicompartmental knee replacement, the surgeon replaces just the damaged part of the knee. You may be able to have a partial knee replacement if only one section of your knee is damaged. However, when one part is replaced, there is a chance that another part will develop arthritis, requiring further surgery. Cemented and Uncemented Joint Components Joint components may also be attached to your own bone in different ways. Most are cemented with a special joint glue into your existing bone; others rely on a process called biologic fixation to hold them in place. This means that the parts are made with a porous surface, and over time your own bone grows into the joint surface to secure them. In some cases, surgeons use a combination of cemented and uncemented parts. This is referred to as a hybrid implant. Minimally Invasive Surgery While some knee replacement surgery requires an 8- to 12-inch incision in the front of the knee, surgeons at many medical centers are now performing what is called minimally invasive surgery using incisions of 3 to 5 inches or even smaller. Because the incision is smaller, there may be less pain and a shorter recovery time. If you think you might be interested in minimally invasive surgery, speak with your surgeon.
Question: What are the symptoms of Orofaciodigital syndrome 5 ?

Answer: What are the signs and symptoms of Orofaciodigital syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Median cleft lip 90% Postaxial hand polydactyly 90% Abnormality of the oral cavity 7.5% Brachydactyly syndrome 7.5% Epicanthus 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Preaxial hand polydactyly 7.5% Aganglionic megacolon 5% Agenesis of corpus callosum 5% Bifid uvula 5% Cleft palate 5% Scoliosis 5% Autosomal recessive inheritance - Frontal bossing - Hypertelorism - Intellectual disability - Lobulated tongue - Postaxial foot polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Nephrotic syndrome ocular anomalies ?

Answer: What are the signs and symptoms of Nephrotic syndrome ocular anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome ocular anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Cataract 90% EEG abnormality 90% Hematuria 90% Hemiplegia/hemiparesis 90% Hypertension 90% Muscular hypotonia 90% Nephrotic syndrome 90% Nystagmus 90% Proteinuria 90% Hypoplasia of penis 50% Areflexia - Autosomal recessive inheritance - Blindness - Diffuse mesangial sclerosis - Edema - Hypoplasia of the ciliary body - Hypoplasia of the iris - Hypoproteinemia - Neonatal onset - Posterior lenticonus - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Niemann-Pick disease type A ?

Answer: What are the signs and symptoms of Niemann-Pick disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Niemann-Pick disease type A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cherry red spot of the macula 50% Athetosis - Autosomal recessive inheritance - Bone-marrow foam cells - Constipation - Diffuse reticular or finely nodular infiltrations - Failure to thrive - Feeding difficulties in infancy - Foam cells with lamellar inclusion bodies - Hepatomegaly - Hyporeflexia - Infantile onset - Intellectual disability - Lymphadenopathy - Microcytic anemia - Muscle weakness - Muscular hypotonia - Osteoporosis - Protuberant abdomen - Recurrent respiratory infections - Rigidity - Sea-blue histiocytosis - Short stature - Spasticity - Splenomegaly - Vomiting - Xanthomatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Budd-Chiari syndrome ?

Answer: What are the signs and symptoms of Budd-Chiari syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Budd-Chiari syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ascites 90% Portal hypertension 90% Splenomegaly 90% Abdominal pain 50% Abnormality of temperature regulation 50% Cirrhosis 50% Elevated hepatic transaminases 50% Esophageal varix 50% Hepatomegaly 50% Acute hepatic failure 7.5% Biliary tract abnormality 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Peritonitis 7.5% Weight loss 7.5% Budd-Chiari syndrome - Hepatocellular carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ?

Answer: What are the signs and symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Midline defect of the nose 90% Muscular hypotonia 90% Narrow forehead 90% Prominent metopic ridge 90% Trigonocephaly 90% Wide mouth 90% Autosomal recessive inheritance - Bifid nasal tip - Bifid nose - Brachycephaly - Broad metatarsal - Broad phalanx - Bulbous nose - Severe global developmental delay - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the genetic changes related to granulomatosis with polyangiitis ?

Answer: The genetic basis of GPA is not well understood. Having a particular version of the HLA-DPB1 gene is the strongest genetic risk factor for developing this condition, although several other genes, some of which have not been identified, may be involved. It is likely that a combination of genetic and environmental factors lead to GPA.  GPA is an autoimmune disorder. Such disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Approximately 90 percent of people with GPA have an abnormal immune protein called an anti-neutrophil cytoplasmic antibody (ANCA) in their blood. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but ANCAs attack normal human proteins. Most people with GPA have an ANCA that attacks the human protein proteinase 3 (PR3). A few affected individuals have an ANCA that attacks a protein called myeloperoxidase (MPO). When these antibodies attach to the protein they recognize, they trigger inflammation, which contributes to the signs and symptoms of GPA.  The HLA-DPB1 gene belongs to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A particular variant of the HLA-DPB1 gene called HLA-DPB1*0401 has been found more frequently in people with GPA, especially those with ANCAs, than in people without the condition.  Because the HLA-DPB1 gene is involved in the immune system, changes in it might be related to the autoimmune response and inflammation in the respiratory tract and kidneys characteristic of GPA. However, it is unclear what specific role the HLA-DPB1*0401 gene variant plays in development of this condition.