umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Branchial arch syndrome X-linked ?

Answer: What are the signs and symptoms of Branchial arch syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Branchial arch syndrome X-linked. 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 palate 90% Abnormality of the pinna 90% Branchial anomaly 90% Conductive hearing impairment 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Prominent nasal bridge 90% Sensorineural hearing impairment 90% Short stature 90% Triangular face 90% Webbed neck 90% Aplasia/Hypoplasia of the eyebrow 50% Cryptorchidism 50% Epicanthus 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary artery 7.5% Abnormality of the pulmonary valve 7.5% Asymmetric growth 7.5% Facial asymmetry 7.5% Pectus excavatum 7.5% Ptosis 7.5% Hearing impairment - High palate - Low-set ears - Protruding ear - Pulmonic stenosis - Specific learning disability - X-linked inheritance - 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 Kufs disease ?

Answer: Mutations in the CLN6 or PPT1 gene cause Kufs disease type A, and mutations in the DNAJC5 or CTSF gene cause Kufs disease type B. Most of the proteins or enzymes produced from these genes are involved in breaking down proteins or clearing unneeded materials from cells.  The CLN6 gene provides instructions for making a protein that likely regulates the transport of certain proteins and fats within the cell. Based on this function, the CLN6 protein appears to help in the process of ridding cells of materials they no longer need.  The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is found in structures called lysosomes, which are compartments within cells that break down and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats from proteins, which probably helps break down the proteins.  The protein produced from the DNAJC5 gene is called cysteine string protein alpha (CSP). This protein is found in the brain and plays a role in the transmission of nerve impulses by ensuring that nerve cells receive signals.  The enzyme produced from the CTSF gene is called cathepsin F. Cathepsin F acts as a protease, which modifies proteins by cutting them apart. Cathepsin F is found in many types of cells and is active in lysosomes. By cutting proteins apart, cathepsin F can break proteins down, turn on (activate) proteins, and regulate self-destruction of the cell (apoptosis).  Mutations in the CLN6, PPT1, DNAJC5, or CTSF gene usually reduce the activity of the gene or impair the function of the protein or enzyme produced from the gene. In many cases, these mutations cause incomplete breakdown of certain proteins and other materials. These materials accumulate in the lysosome, forming fatty substances called lipopigments. In other cases, it is unclear what causes the buildup of lipopigments. In Kufs disease, these accumulations occur in nerve cells (neurons) in the brain, resulting in cell dysfunction and eventually cell death. The progressive death of neurons leads to the signs and symptoms of Kufs disease.  Some people with either type of Kufs disease do not have an identified mutation in any of these four genes. In these individuals, the cause of the condition is unknown.
Question: What is (are) progressive familial heart block ?

Answer: Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). From there, a group of cells called the atrioventricular node carries the electrical signals to another cluster of cells called the bundle of His. This bundle separates into multiple thin spindles called bundle branches, which carry electrical signals into the heart's lower chambers (the ventricles). Electrical impulses move from the sinoatrial node down to the bundle branches, stimulating a normal heartbeat in which the ventricles contract slightly later than the atria.  Heart block occurs when the electrical signaling is obstructed anywhere from the atria to the ventricles. In people with progressive familial heart block, the condition worsens over time: early in the disorder, the electrical signals are partially blocked, but the block eventually becomes complete, preventing any signals from passing through the heart. Partial heart block causes a slow or irregular heartbeat (bradycardia or arrhythmia, respectively), and can lead to the buildup of scar tissue (fibrosis) in the cells that carry electrical impulses. Fibrosis contributes to the development of complete heart block, resulting in uncoordinated electrical signaling between the atria and the ventricles and inefficient pumping of blood in the heart. Complete heart block can cause a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, fainting (syncope), or sudden cardiac arrest and death.  Progressive familial heart block can be divided into type I and type II, with type I being further divided into types IA and IB. These types differ in where in the heart signaling is interrupted and the genetic cause. In types IA and IB, the heart block originates in the bundle branch, and in type II, the heart block originates in the atrioventricular node. The different types of progressive familial heart block have similar signs and symptoms.  Most cases of heart block are not genetic and are not considered progressive familial heart block. The most common cause of heart block is fibrosis of the heart, which occurs as a normal process of aging. Other causes of heart block can include the use of certain medications or an infection of the heart tissue.
Question: What are the complications of Gastritis ?

Answer: The complications of chronic gastritis may include
                
- peptic ulcers. Peptic ulcers are sores involving the lining of the stomach or duodenum, the first part of the small intestine. NSAID use and H. pylori gastritis increase the chance of developing peptic ulcers.  - atrophic gastritis. Atrophic gastritis happens when chronic inflammation of the stomach lining causes the loss of the stomach lining and glands. Chronic gastritis can progress to atrophic gastritis.  - anemia. Erosive gastritis can cause chronic bleeding in the stomach, and the blood loss can lead to anemia. Anemia is a condition in which red blood cells are fewer or smaller than normal, which prevents the body's cells from getting enough oxygen. Red blood cells contain hemoglobin, an iron-rich protein that gives blood its red color and enables the red blood cells to transport oxygen from the lungs to the tissues of the body. Research suggests that H. pylori gastritis and autoimmune atrophic gastritis can interfere with the body's ability to absorb iron from food, which may also cause anemia. Read more about anemia at www.nhlbi.nih.gov.  - vitamin B12 deficiency and pernicious anemia. People with autoimmune atrophic gastritis do not produce enough intrinsic factor. Intrinsic factor is a protein made in the stomach and helps the intestines absorb vitamin B12. The body needs vitamin B12 to make red blood cells and nerve cells. Poor absorption of vitamin B12 may lead to a type of anemia called pernicious anemia. Read more about pernicious anemia at www.nhlbi.nih.gov.  - growths in the stomach lining. Chronic gastritis increases the chance of developing benign, or noncancerous, and malignant, or cancerous, growths in the stomach lining. Chronic H. pylori gastritis increases the chance of developing a type of cancer called gastric mucosa-associated lymphoid tissue (MALT) lymphoma. Read more about MALT lymphoma and gastric cancer at www.cancer.gov.
                
In most cases, acute gastritis does not lead to complications. In rare cases, acute stress gastritis can cause severe bleeding that can be life threatening.
Question: What are the symptoms of Congenital intrauterine infection-like syndrome ?

Answer: What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like 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) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - 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: Who is at risk for Parasites - Cysticercosis? ?

Answer: Cysticercosis is an infection caused by the larvae of the tapeworm, Taenia solium. A person with an adult tapeworm, which lives in the person’s gut, sheds eggs in the stool.  The infection with the adult tapeworm is called taeniasis.  A pig then eats the eggs in the stool.  The eggs develop into larvae inside the pig and form cysts (called cysticerci) in the pig's muscles or other tissues. The infection with the cysts is called cysticercosis. Humans who eat undercooked or raw infected pork swallow the cysts in the meat. The larvae then come out of their cysts in the human gut and develop into adult tapeworms, completing the cycle.
    
People get cysticercosis when they swallow eggs that are excreted in the stool of people with the adult tapeworm. This may happen when people
    
     - Drink water or eat food contaminated with tapeworm eggs
     - Put contaminated fingers in their mouth
    
    
Cysticercosis is not spread by eating undercooked meat. However, people get infected with tapeworms (taeniasis) by eating undercooked infected pork. People who have tapeworm infections can infect themselves with the eggs and develop cysticercosis (this is called autoinfection). They can also infect other people if they have poor hygiene and contaminate food or water that other people swallow. People who live with someone who has a tapeworm infection in their intestines have a much higher risk of getting cysticercosis than other people.
    
Human cysticercosis is found worldwide, especially in areas where pig cysticercosis is common. Both taeniasis and cysticercosis are most often found in rural areas of developing countries with poor sanitation, where pigs roam freely and eat human feces. Taeniasis and cysticercosis are rare among persons who live in countries where pigs are not raised and in countries where pigs do not have contact with human feces. Although uncommon, cysticercosis can occur in people who have never traveled outside of the United States if they are exposed to tapeworm eggs.
    
More on: Taeniasis
Question: What causes Intestinal Pseudo-obstruction ?

Answer: Problems with nerves, muscles, or interstitial cells of Cajal cause intestinal pseudo-obstruction. Interstitial cells of Cajal are called pacemaker cells because they set the pace of intestinal contractions. These cells convey messages from nerves to muscles.
                
Problems with nerves, muscles, or interstitial cells of Cajal prevent normal contractions of the intestines and cause problems with the movement of food, fluid, and air through the intestines.
                
Primary or idiopathic intestinal pseudo-obstruction is intestinal pseudo-obstruction that occurs by itself. In some people with primary intestinal pseudo-obstruction, mutations, or changes, in genestraits passed from parent to childcause the condition. However, health care providers do not typically order genetic testing for an intestinal pseudo-obstruction, as they dont commonly recognize gene mutations as a cause.
                
Some people have duplications or deletions of genetic material in the FLNA gene. Researchers believe that these genetic changes may impair the function of a protein, causing problems with the nerve cells in the intestines.1 As a result, the nerves cannot work with the intestinal muscles to produce normal contractions that move food, fluid, and air through the digestive tract. Also, these genetic changes may account for some of the other signs and symptoms that can occur with intestinal pseudo-obstruction, such as bladder symptoms and muscle weakness.
                
A condition called mitochondrial neurogastrointestinal encephalopathy may also cause primary intestinal pseudo-obstruction. In people with this condition, mitochondriastructures in cells that produce energydo not function normally. Mitochondrial neurogastrointestinal encephalopathy can also cause other symptoms, such as problems with nerves in the limbs and changes in the brain.
                
Secondary intestinal pseudo-obstruction develops as a complication of another medical condition. Causes of secondary intestinal pseudo-obstruction include
                
- abdominal or pelvic surgery  - diseases that affect muscles and nerves, such as lupus erythematosus, scleroderma, and Parkinsons disease  - infections  - medications, such as opiates and antidepressants, that affect muscles and nerves  - radiation to the abdomen  - certain cancers, including lung cancer
Question: What are the symptoms of Dermatoosteolysis Kirghizian type ?

Answer: What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian type. 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 diaphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the fingernails 90% Abnormality of the metaphyses 90% Abnormality of the toenails 90% Abnormality of the wrist 90% Aplasia/Hypoplasia of the skin 90% Arthralgia 90% Brachydactyly syndrome 90% Inflammatory abnormality of the eye 90% Nyctalopia 90% Osteoarthritis 90% Osteolysis 90% Reduced number of teeth 90% Scoliosis 90% Skin ulcer 90% Tarsal synostosis 90% Upper limb phocomelia 90% Ankle swelling - Autosomal recessive inheritance - Blindness - Broad foot - Fever - Flexion contracture - Infantile onset - Joint contracture of the hand - Keratitis - Nail dysplasia - Nail dystrophy - Oligodontia - Split hand - 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 Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ?

Answer: What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. 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 ureter 90% Hypoplasia of penis 90% Oligohydramnios 90% Respiratory insufficiency 90% Sandal gap 90% Abnormality of coagulation 50% Aplasia/Hypoplasia of the lungs 50% Ascites 50% Depressed nasal ridge 50% Displacement of the external urethral meatus 50% Microcephaly 50% Muscular hypotonia 50% Narrow mouth 50% Polyhydramnios 50% Renal hypoplasia/aplasia 50% Splenomegaly 50% Thin vermilion border 50% Abnormal external genitalia - Abnormality of earlobe - Deep plantar creases - Flat occiput - Hemolytic anemia - Hepatosplenomegaly - 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 Microcephaly cervical spine fusion anomalies ?

Answer: What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion 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 the ribs 90% Cognitive impairment 90% Convex nasal ridge 90% Hyperlordosis 90% Hypoplasia of the zygomatic bone 90% Kyphosis 90% Low-set, posteriorly rotated ears 90% Malar prominence 90% Microcephaly 90% Pectus excavatum 90% Proptosis 90% Short stature 90% Sloping forehead 90% Vertebral segmentation defect 90% Abnormality of dental morphology 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Displacement of the external urethral meatus 50% Hyperreflexia 50% Neurological speech impairment 50% Ptosis 50% Short neck 50% Autosomal recessive inheritance - Intellectual disability - Spinal cord compression - Spinal instability - Vertebral fusion - 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.