umarjan11/Medical-qna huggingface dataset:
Question: What is (are) REN-related kidney disease ?

Answer: REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney failure. Individuals with REN-related kidney disease typically require dialysis (to remove wastes from the blood) or a kidney transplant between ages 40 and 70.  People with REN-related kidney disease sometimes have low blood pressure. They may also have mildly increased levels of potassium in their blood (hyperkalemia). In childhood, people with REN-related kidney disease develop a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue. In this disorder, anemia is usually mild and begins to improve during adolescence.  Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine so it can be excreted from the body. In REN-related kidney disease, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. Individuals with REN-related kidney disease may begin to experience the signs and symptoms of gout during their twenties.
Question: What is (are) Potocki-Shaffer syndrome ?

Answer: Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have. Unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life.  The signs and symptoms of Potocki-Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected individuals often have intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills. Many people with this condition have distinctive facial features, which can include a wide, short skull (brachycephaly); a prominent forehead; a narrow bridge of the nose; a shortened distance between the nose and upper lip (a short philtrum); and a downturned mouth. Less commonly, Potocki-Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary tract.
Question: What are the treatments for homocystinuria ?

Answer: These resources address the diagnosis or management of homocystinuria:  - Baby's First Test  - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism  - Gene Review: Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency  - Genetic Testing Registry: Homocysteinemia due to MTHFR deficiency  - Genetic Testing Registry: Homocystinuria due to CBS deficiency  - Genetic Testing Registry: Homocystinuria, cblD type, variant 1  - Genetic Testing Registry: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type  - Genetic Testing Registry: METHYLCOBALAMIN DEFICIENCY, cblG TYPE  - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD  - Genetic Testing Registry: Methylmalonic aciduria, cblD type, variant 2  - MedlinePlus Encyclopedia: Homocystinuria  - New England Consortium of Metabolic Programs   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What are the genetic changes related to X-linked chondrodysplasia punctata 2 ?

Answer: X-linked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. This gene provides instructions for making an enzyme called 3-hydroxysteroid-8,7-isomerase, which is responsible for one of the final steps in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). Although too much cholesterol is a risk factor for heart disease, this molecule is necessary for normal embryonic development and has important functions both before and after birth. It is a structural component of cell membranes and plays a role in the production of certain hormones and digestive acids.  Mutations in the EBP gene reduce the activity of 3-hydroxysteroid-8,7-isomerase, preventing cells from producing enough cholesterol. A shortage of this enzyme also allows potentially toxic byproducts of cholesterol production to build up in the body. The combination of low cholesterol levels and an accumulation of other substances likely disrupts the growth and development of many body systems. It is not known, however, how this disturbance in cholesterol production leads to the specific features of X-linked chondrodysplasia punctata 2.
Question: What are the genetic changes related to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ?

Answer: Mutations in the HMGCL gene cause HMG-CoA lyase deficiency. The HMGCL gene provides instructions for making an enzyme known as 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). This enzyme plays a critical role in breaking down dietary proteins and fats for energy. Specifically, it is responsible for processing leucine, an amino acid that is part of many proteins. HMG-CoA lyase also produces ketones during the breakdown of fats. Ketones are compounds that certain organs and tissues, particularly the brain, use for energy when the simple sugar glucose is not available. For example, ketones are important sources of energy during periods of fasting.  If a mutation in the HMGCL gene reduces or eliminates the activity of HMG-CoA lyase, the body is unable to process leucine or make ketones properly. When leucine is not processed normally, a buildup of chemical byproducts called organic acids can result in metabolic acidosis. A shortage of ketones often leads to hypoglycemia. Metabolic acidosis and hypoglycemia can damage cells, particularly in the brain, resulting in serious illness in children with HMG-CoA lyase deficiency.
Question: What is (are) myoclonic epilepsy myopathy sensory ataxia ?

Answer: Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE).  The first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).
Question: What to do for Chronic Diarrhea in Children ?

Answer: - Diarrhea is loose, watery stools. Chronic, or long lasting, diarrhea typically lasts for more than 4 weeks.  - Many diseases and disorders can cause chronic diarrhea in children. Common causes include infections, functional gastrointestinal (GI) disorders, food allergies and intolerances, and inflammatory bowel disease (IBD).  - Symptoms that accompany chronic diarrhea in children depend on the cause of the diarrhea. Symptoms can include cramping, abdominal pain, nausea or vomiting, fever, chills, or bloody stools.  - Children with chronic diarrhea who have malabsorption can experience bloating and swelling of the abdomen, changes in appetite, or weight loss or poor weight gain.  - Children with any of the following symptoms should see a health care provider right away: signs of malabsorption, severe abdominal or rectal pain, a fever of 102 degrees or higher, or stools containing blood or pus.  - To determine the cause of chronic diarrhea, the health care provider will take a complete medical and family history and conduct a physical exam, and may perform tests.  - The treatment for chronic diarrhea will depend on the cause.  - A childs parent or caretaker should talk with a health care provider about changing the childs diet to treat chronic diarrhea.
Question: What is (are) Adhesions ?

Answer: Adhesions are bands of scar-like tissue. Normally, internal tissues and organs have slippery surfaces so they can shift easily as the body moves. Adhesions cause tissues and organs to stick together. They might connect the loops of the intestines to each other, to nearby organs, or to the wall of the abdomen. They can pull sections of the intestines out of place. This may block food from passing through the intestine.    Adhesions can occur anywhere in the body. But they often form after surgery on the abdomen. Almost everyone who has surgery on the abdomen gets adhesions. Some adhesions don't cause any problems. But when they partly or completely block the intestines, they cause symptoms such as       - Severe abdominal pain or cramping    - Vomiting    - Bloating    - An inability to pass gas    - Constipation       Adhesions can sometimes cause infertility in women by preventing fertilized eggs from reaching the uterus.    No tests are available to detect adhesions. Doctors usually find them during surgery to diagnose other problems.    Some adhesions go away by themselves. If they partly block your intestines, a diet low in fiber can allow food to move easily through the affected area. If you have a complete intestinal obstruction, it is life threatening. You should get immediate medical attention and may need surgery.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Pelvic Support Problems ?

Answer: The pelvic floor is a group of muscles and other tissues that form a sling or hammock across the pelvis. In women, it holds the uterus, bladder, bowel, and other pelvic organs in place so that they can work properly. The pelvic floor can become weak or be injured. The main causes are pregnancy and childbirth. Other causes include being overweight, radiation treatment, surgery, and getting older.    Common symptoms include       - Feeling heaviness, fullness, pulling, or aching in the vagina. It gets worse by the end of the day or during a bowel movement.    - Seeing or feeling a "bulge" or "something coming out" of the vagina    - Having a hard time starting to urinate or emptying the bladder completely    - Having frequent urinary tract infections    - Leaking urine when you cough, laugh, or exercise    - Feeling an urgent or frequent need to urinate    - Feeling pain while urinating    - Leaking stool or having a hard time controlling gas    - Being constipated    - Having a hard time making it to the bathroom in time       Your health care provider diagnoses the problem with a physical exam, a pelvic exam, or special tests. Treatments include special pelvic muscle exercises called Kegel exercises. A mechanical support device called a pessary helps some women. Surgery and medicines are other treatments.    NIH: National Institute of Child Health and Human Development
Question: What are the symptoms of Maturity-onset diabetes of the young, type 6 ?

Answer: What are the signs and symptoms of Maturity-onset diabetes of the young, type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 6. 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) Autosomal dominant inheritance - Maturity-onset diabetes of the young - 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 is (are) Protein C deficiency ?

Answer: Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can cause a life-threatening pulmonary embolism. Most people with mild protein C deficiency never develop abnormal blood clots, but certain factors can increase the risk to develop a blood clot. In severe protein C deficiency, affected infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. This is characterized by blood clots that block normal blood flow and can lead to death of body tissues (necrosis). Abnormal bleeding can occur in various parts of the body causing purple patches on the skin. Protein C deficiency may be inherited or acquired. The inherited form is caused by mutations in the PROC gene and is inherited in an autosomal dominant manner. Most people with protein C deficiency do not have any symptoms and require no specific treatment. However, in situations of clot risk such as pregnancy, surgery or trauma, prevention treatment may be indicated. Patients with the severe form of the disease are treated depending on the symptoms. A protein C concentrate is effective in many cases. Liver transplant may cure the babies with this disease.
Question: What are the treatments for Protein C deficiency ?

Answer: How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfarin, which help to prevent another blood clot from developing in the future. Preventative treatment with these blood-thinning drugs may also be considered in those with a family history of blood clotting, as well as in higher risk situations such as pregnancy. A protein C concentrate (Ceprotin) was approved by the Food and Drug Administration in 2007 for the treatment of protein C deficiency. High doses of intravenous protein C concentrates can help thin the blood and protect from blood clots. It can also be used a preventative treatment against blood clots during surgery, pregnancy delivery, prolonged immobility, or overwhelming infection in the blood stream (sepsis). Currently, no guidelines exist as to which patients should receive protein C concentrate. It is typically given only at times of increased risk for clotting, or when the blood thinner heparin by itself cannot be safely given because it would lead to an increased risk for bleeding. However, in those with severe protein C who have had severe bleeding complications on long-term blood thinning therapy, protein C concentrate has been used on a regular basis.
Question: Is EEC syndrome inherited ?

Answer: How is EEC syndrome inherited? EEC syndrome is inherited in an autosomal dominant manner.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. EEC can appear to be caused by a de novo mutation in some instances when an unaffected parent of an affected child has germline mosaicism. Germline mosaicism affects the genetic make-up of the egg and sperm cell only. It is estimated that unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child. EEC syndrome additionally shows reduced penetrance and variable expressivity. Reduced penetrance means that not all individuals with a mutation in the disease-causing gene will have signs and symptoms of the condition; however, in this condition, it has been reported that up to 93-98% of individuals with a mutation will have the condition. Variable expressivity means that there is a range of signs and symptoms that can occur in different people with the condition (i.e. the expression of the condition varies).
Question: What are the symptoms of Loose anagen hair syndrome ?

Answer: What are the signs and symptoms of Loose anagen hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loose anagen hair 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) Abnormal hair whorl 90% Abnormality of hair texture 90% Iris coloboma 50% Childhood onset - Fair hair - Juvenile onset - Sparse hair - 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 Neutrophil-specific granule deficiency ?

Answer: What are the signs and symptoms of Neutrophil-specific granule deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutrophil-specific granule deficiency. 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) Absent neutrophil specific granules - Autosomal recessive inheritance - Hyposegmentation of neutrophil nuclei - Recurrent infections - 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 Orofaciodigital syndrome 11 ?

Answer: What are the signs and symptoms of Orofaciodigital syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 11. 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 the odontoid process - Cleft palate - Intellectual disability - Kyphoscoliosis - Sporadic - 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.