bowang0911/MedQuAD huggingface dataset:
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.
What are the signs and symptoms of Protein C deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Protein C 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) Subcutaneous hemorrhage 50% Thin skin 50% Thrombophlebitis 50% Abnormality of skin pigmentation 7.5% Abnormality of the cerebral vasculature 7.5% Gangrene 7.5% Pulmonary embolism 7.5% Skin ulcer 7.5% Venous insufficiency 7.5% Abnormality of the eye - Abnormality of the nervous system - Autosomal dominant inheritance - Cerebral venous thrombosis - Deep venous thrombosis - Hypercoagulability - Reduced protein C activity - Superficial thrombophlebitis - Warfarin-induced skin necrosis - 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.
What causes protein C deficiency? Protein C deficiency can be inherited or acquired later in life. Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein C cannot control blood clotting, abnormal blood clots may form. Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), and vitamin K deficiency. Treatment with warfarin or certain types of chemotherapy can also cause acquired protein C deficiency.
How is protein C deficiency diagnosed? A diagnosis of protein C deficiency might be suspected in someone with a deep venous thrombosis (DVT) or a pulmonary embolism, especially if it occurs in a relatively young person (less than 50 years old) or has formed in an unusual location, such as the veins leading to the liver or kidney or the blood vessels of the brain. Laboratory tests are usually be done to look at the function or quantity of protein C in the blood. Functional tests are usually ordered, along with other tests for abnormal blood clotting, to screen for normal activity of protein C. Based on those results, concentrations of protein C may be measured to look for decreased production due to an acquired or inherited condition and to classify the type of deficiency. If the shortage of protein C is due to an inherited genetic change, the quantity of protein C available and the degree of activity can be used to help determine whether a person is heterozygous or homozygous for the mutation. Genetic testing is not necessary to make a diagnosis.
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.
What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 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) Abnormality of the kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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.
Multiple myeloma is a form of cancer that occurs due to abnormal and uncontrolled growth of plasma cells in the bone marrow. Some people with multiple myeloma, especially those with early stages of the condition, have no concerning signs or symptoms. When present, the most common symptom is anemia, which can be associated with fatigue and shortness of breath. Other features of the condition may include multiple infections; abnormal bleeding; bone pain; weak and/or easily broken bones; and numbness and/or weakness of the arms and legs. The exact underlying cause of multiple myeloma is currently unknown. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS). Treatment varies based on many factors, but may include one or more of the following interventions: chemotherapy, corticosteroid medications, targeted therapy, stem cell transplant, biological therapy, radiation therapy, surgery and/or watchful waiting.
What are the signs and symptoms of Multiple myeloma? In some cases, multiple myeloma is not associated with any signs and symptoms. When present, the most common symptom is anemia (low red blood cell count), which can be associated with fatigue, shortness of breath, and dizziness. Other features of the condition may include: Bone pain Nausea Constipation Loss of appetite Frequent infections Weight loss Excessive thirst Weakness and/or numbness in the arms and legs Confusion Abnormal bleeding Weak bones that may break easily Difficulty breathing The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple myeloma. 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 metabolism/homeostasis - Autosomal recessive inheritance - Multiple myeloma - Somatic mutation - 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.
What causes multiple myeloma? Although the exact underlying cause of multiple myeloma is poorly understood, the specific symptoms of the condition result from abnormal and excessive growth of plasma cells in the bone marrow. Plasma cells help the body fight infection by producing proteins called antibodies. In people with multiple myeloma, excess plasma cells form tumors in the bone, causing bones to become weak and easily broken. The abnormal growth of plasma cells also makes it more difficult for the bone marrow to make healthy blood cells and platelets. The plasma cells produced in multiple myeloma produce abnormal antibodies that the immune system is unable to use. These abnormal antibodies build up in the body and cause a variety of problems. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS).
How is multiple myeloma diagnosed? A diagnosis of multiple myeloma may be suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include: Specialized blood tests including immunoglobulin studies, complete blood count with differential, and blood chemistry studies Urine tests such as immunoglobulin studies and a twenty-four-hour urine test Bone marrow aspiration and biopsy Imaging studies such as an X-ray of the bones (skeletal bone survey), MRI, CT scan, and/or PET scan The American Cancer Society offers more information regarding the diagnosis of multiple myeloma, including a summary of the many tests that may be recommended. Please click on the link to access this resource. Some affected people may have no suspicious signs or symptoms of multiple myeloma, especially in the early stages of the condition. In these cases, multiple myeloma is sometimes diagnosed by chance when a blood test or urine test is ordered to investigate another condition.
How might multiple myeloma be treated? The treatment of multiple myeloma varies based on many factors including the age and general health of the affected person; the associated signs and symptoms; and the severity of the condition. In general, one or more of the following interventions may be used to treat multiple myeloma: Chemotherapy Corticosteroid medications Targeted therapy Stem cell transplant Biological therapy Radiation therapy Surgery Watchful waiting The National Cancer Institute offers information regarding the management of multiple myeloma, including more specific information regarding the treatments outlined above. Please click on the link to access this resource.
Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage. Some affected people may not have any signs or symptoms of the condition. Others experience chronic joint pain or sudden, recurrent episodes of pain, stiffness and/or swelling of the joints. Although chondrocalcinosis 2 can affect people of all ages, it is most commonly diagnosed in early adulthood (age 20-40 years). It is caused by changes (mutations) in the ANKH gene and is inherited in an autosomal dominant manner. There is no cure for the condition and treatment is symptomatic.
What are the signs and symptoms of Chondrocalcinosis 2? The signs and symptoms of chondrocalcinosis 2 vary from person to person. Some affected people may not have any symptoms of the condition aside from the appearance of calcium deposits on joint x-rays. Others experience chronic pain in affected joints and/or the back if calcium deposits develop around the bones of the spine. Chondrocalcinosis 2 can also be associated with sudden, recurrent episodes of joint pain, stiffness and/or swelling that can last anywhere from several hours to several weeks. These episodes can lead to limited range of motion in the affected joint or even ankylosis (fixation of joint in place). Although almost any joint in the body can be affected, symptoms are often confined to a single knee, wrist, hip or shoulder. The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrocalcinosis 2. 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 intervertebral disk 90% Arthralgia 90% Calcification of cartilage 90% Joint swelling 90% Osteoarthritis 50% Abnormal tendon morphology 7.5% Chondrocalcinosis 7.5% Joint dislocation 7.5% Limitation of joint mobility 7.5% Seizures 7.5% Adult onset - Arthropathy - Autosomal dominant inheritance - Polyarticular chondrocalcinosis - 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.
What causes chondrocalcinosis 2? Chondrocalcinosis 2 is caused by changes (mutations) in the ANKH gene. This gene encodes a protein that helps transport pyrophosphate (a substance that regulates bone formation). Mutations in ANKH can cause high levels of pyrophosphate and calcium pyrophosphate dihydrate crystals to accumulate in the cartilage of joints. The buildup of these crystals weakens cartilage and causes it to break down more easily. This leads to the many signs and symptoms associated with chondrocalcinosis 2.
Is chondrocalcinosis 2 inherited? Chondrocalcinosis 2 is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with chondrocalcinosis 2 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
How is chondrocalcinosis 2 diagnosed? A diagnosis of chondrocalcinosis 2 is often suspected based on characteristic signs and symptoms. Specialized testing, such as synovial fluid analysis, can then be ordered to confirm the diagnosis. In synovial fluid analysis, a small sample of the fluid that surrounds affected joints is removed and examined to determine if calcium pyrophosphate dihydrate crystals are present. In most cases, x-rays can be used to identify calcium deposits in the cartilage of joints.
How might chondrocalcinosis 2 be treated? There is currently no cure for chondrocalcinosis 2. Unfortunately, the accumulation of calcium pyrophosphate dihydrate crystals can not be prevented and once present, these crystals can not be removed from affected joints. Therapies are available to manage the signs and symptoms of the condition. During episodes of joint pain, stiffness, and/or swelling, the following treatments may be recommended to relieve symptoms: joint aspiration (draining of fluid from the affected joint), corticosteroids injections, and/or nonsteroidal anti-inflammatory drugs (NSAIDS) such as aspirin or ibuprofen. Small doses of a medication called colchicine or NSAIDS are sometimes prescribed to people with frequent and severe attacks in an attempt to prevent future episodes; however, this therapy is not effective in all cases.
What are the signs and symptoms of Accessory deep peroneal nerve? The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory deep peroneal nerve. 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 nervous system - Autosomal dominant 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.
Congenital myasthenic syndrome (CMS) is a group of genetic disorders that result in muscle weakness and fatigue. Symptoms can range from mild weakness to progressive disabling weakness. There are three main subtypes of CMS, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). Identification of the specific subtype is important in patient care for determining the most effective treatment. Mutations in many genes have been found to cause CMS, and most forms of CMS are inherited in an autosomal recessive pattern. One form of CMS, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner.
How is congenital myasthenic syndrome inherited? Almost all types of CMS are inherited in an autosomal recessive manner. In order to have the autosomal recessive form of CMS, both parents of an affected individual must be carriers of the disease causing mutation. If a person has CMS, but their partner is not a carrier of a CMS mutation, then their children will be carriers but will not have CMS. If one person has CMS and one person is a carrier of CMS, each child has a 50% chance of either being a carrier of CMS or having the disorder. Only one form of CMS (slow-channel syndrome congenital myasthenic syndrome) has been shown to be inherited in an autosomal dominant manner. This means that if one parent has slow-channel syndrome congenital myasthenic syndrome then all of their children have a 50% chance of inheriting the disorder as well. It is important to discuss this information with your health care provider, such as a genetic counselor, to accurately determine a person's risk for passing on this disorder.
Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID).  Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting.  The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge - are often present as well.  FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PID progresses to FHCS in some women.  Fitz-Hugh-Curtis syndrome is treated with antibiotics.