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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Abruzzo Erickson syndrome ? ### Doctor:
What are the signs and symptoms of Abruzzo Erickson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Abruzzo Erickson 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) Cleft palate 90% Displacement of the external urethral meatus 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Chorioretinal coloboma 50% Iris coloboma 50% Radioulnar synostosis 50% Sensorineural hearing impairment 50% Short stature 50% Ulnar deviation of finger 50% Abnormal localization of kidney 7.5% Abnormality of dental morphology 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Chin dimple 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Microcornea 7.5% Short toe 7.5% Toe syndactyly 7.5% Coloboma - Hearing impairment - Hypospadias - Protruding ear - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Cerebral sarcoma ? ### Doctor:
What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. 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 - Fibrosarcoma - 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. | [
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How many people are affected by mucolipidosis type IV ? ### Doctor:
Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry. | [
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What to do for IgA Nephropathy ? ### Doctor:
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing IgA nephropathy. Health care providers may recommend that people with kidney disease, such as IgA nephropathy, make dietary changes such as
- limiting dietary sodium, often from salt, to help reduce edema and lower blood pressure - decreasing liquid intake to help reduce edema and lower blood pressure - eating a diet low in saturated fat and cholesterol to help control high levels of lipids, or fats, in the blood
Health care providers may also recommend that people with kidney disease eat moderate or reduced amounts of protein, although the benefit of reducing protein in a persons diet is still being researched. Proteins break down into waste products the kidneys must filter from the blood. | [
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Is fucosidosis inherited ? ### Doctor:
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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Who is at risk for Heart Palpitations? ? ### Doctor:
Some people may be more likely than others to have palpitations. People at increased risk include those who:
Have anxiety or panic attacks, or people who are highly stressed
Take certain medicines or stimulants
Have certain medical conditions that aren't related to heart problems, such as an overactive thyroid
Have certain heart problems, such as arrhythmias (irregular heartbeats), a previous heart attack, heart failure, heart valve disease, or heart muscle disease
Women who are pregnant, menstruating, or perimenopausal also may be at higher risk for palpitations because of hormonal changes. Some palpitations that occur during pregnancy may be due to anemia. For more information about these risk factors, go to "What Causes Palpitations?" | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Kidney Stones in Children ? ### Doctor:
The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quarts of urine an adult produces each day. Children produce less urine each day; the amount produced depends on their age. The urine travels from the kidneys down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Lung Cancer ? ### Doctor:
Key Points
- Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - Lung cancer is the leading cause of cancer death in both men and women. Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. The lungs are a pair of cone-shaped breathing organs in the chest. The lungs bring oxygen into the body as you breathe in. They release carbon dioxide, a waste product of the body's cells, as you breathe out. Each lung has sections called lobes. The left lung has two lobes. The right lung is slightly larger, and has three lobes. A thin membrane called the pleura surrounds the lungs. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes also involved in lung cancer. | [
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What are the symptoms of Northern epilepsy ? ### Doctor:
What are the signs and symptoms of Northern epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Northern epilepsy. 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) Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Delayed speech and language development - Developmental regression - EEG abnormality - Increased neuronal autofluorescent lipopigment - Myoclonus - Progressive visual loss - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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what research (or clinical trials) is being done for Urethral Cancer ? ### Doctor:
New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. | [
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What is (are) Heat Illness ? ### Doctor:
Your body normally cools itself by sweating. During hot weather, especially with high humidity, sweating just isn't enough. Your body temperature can rise to dangerous levels and you can develop a heat illness. Most heat illnesses occur from staying out in the heat too long. Exercising too much for your age and physical condition are also factors. Older adults, young children and those who are sick or overweight are most at risk. Drinking fluids to prevent dehydration, replenishing salt and minerals, and limiting time in the heat can help. Heat-related illnesses include - Heatstroke - a life-threatening illness in which body temperature may rise above 106 F in minutes; symptoms include dry skin, rapid, strong pulse and dizziness - Heat exhaustion - an illness that can precede heatstroke; symptoms include heavy sweating, rapid breathing and a fast, weak pulse - Heat cramps - muscle pains or spasms that happen during heavy exercise - Heat rash - skin irritation from excessive sweating Centers for Disease Control and Prevention | [
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What is (are) Brain Diseases ? ### Doctor:
The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating. Inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. And we do not know what causes some brain diseases, such as Alzheimer's disease. The symptoms of brain diseases vary widely depending on the specific problem. In some cases, damage is permanent. In other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms. | [
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What are the symptoms of Intestinal Pseudo-obstruction ? ### Doctor:
Intestinal pseudo-obstruction symptoms may include
- abdominal swelling or bloating, also called distension - abdominal pain - nausea - vomiting - constipation - diarrhea
Over time, the condition can cause malnutrition, bacterial overgrowth in the intestines, and weight loss. Malnutrition is a condition that develops when the body does not get the right amount of the vitamins, minerals, and other nutrients it needs to maintain healthy tissues and organ function. Some people develop problems with their esophagus, stomach, or bladder. | [
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What is (are) Polycythemia Vera ? ### Doctor:
Key Points
- Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow. - Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. - Special blood tests are used to diagnose polycythemia vera. Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow. In polycythemia vera, the blood becomes thickened with too many red blood cells. The number of white blood cells and platelets may also increase. These extra blood cells may collect in the spleen and cause it to swell. The increased number of red blood cells, white blood cells, or platelets in the blood can cause bleeding problems and make clots form in blood vessels. This can increase the risk of stroke or heart attack. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Perrault syndrome ? ### Doctor:
These resources address the diagnosis or management of Perrault syndrome: - Gene Review: Gene Review: Perrault Syndrome - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance - Genetic Testing Registry: Perrault syndrome 2 - Genetic Testing Registry: Perrault syndrome 4 - Genetic Testing Registry: Perrault syndrome 5 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 | [
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What is the outlook for Moebius Syndrome ? ### Doctor:
There is no cure for Moebius syndrome. In spite of the impairments that characterize the disorder, proper care and treatment give many individuals a normal life expectancy. | [
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What is (are) Hereditary spherocytosis ? ### Doctor:
Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Some people with a severe form may have short stature, delayed sexual development, and skeletal abnormalities. The condition is caused by mutations in any of several genes, such as the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant manner, but may be inherited in an autosomal recessive manner. There are different types of hereditary spherocytosis, which are distinguished by severity and genetic cause. Depending on severity, treatment may involve splenectomy, red cell transfusions, folic acid supplementation, and/or cholecystectomy. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Amelogenesis imperfecta ? ### Doctor:
What causes amelogenesis imperfecta? Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Mutations in any of these genes alter the structure of these proteins or prevent the genes from making any protein at all. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to Loeys-Dietz syndrome ? ### Doctor:
The four types of Loeys-Dietz syndrome are distinguished by their genetic cause: mutations in the TGFBR1 gene cause type I, mutations in the TGFBR2 gene cause type II, mutations in the SMAD3 gene cause type III, and mutations in the TGFB2 gene cause type IV. These four genes play a role in cell signaling that promotes growth and development of the body's tissues. This signaling pathway also helps with bone and blood vessel development and plays a part in the formation of the extracellular matrix, an intricate lattice of proteins and other molecules that forms in the spaces between cells. Mutations in the TGFBR1, TGFBR2, TGFB2, and SMAD3 genes result in the production of proteins with little or no function. Even though these proteins have severely reduced function, cell signaling occurs at an even greater intensity than normal. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by vitelliform macular dystrophy ? ### Doctor:
Vitelliform macular dystrophy is a rare disorder; its incidence is unknown. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Glass-Chapman-Hockley syndrome ? ### Doctor:
What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing together or fusing of the coronal suture. The coronal suture is found between the parts of the skull called the frontal bone and the two parietal bones. Forehead tends to be recessed and flattened. Eye socket is elevated and tilted with protruding eyes. Nose slants to one side. Very small fingers (brachydactyl). The Human Phenotype Ontology provides the following list of signs and symptoms for Glass-Chapman-Hockley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Noonan syndrome ? ### Doctor:
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. | [
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Is Alzheimer disease inherited ? ### Doctor:
The early-onset form of Alzheimer disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. The inheritance pattern of late-onset Alzheimer disease is uncertain. People who inherit one copy of the APOE e4 allele have an increased chance of developing the disease; those who inherit two copies of the allele are at even greater risk. It is important to note that people with the APOE e4 allele inherit an increased risk of developing Alzheimer disease, not the disease itself. Not all people with Alzheimer disease have the e4 allele, and not all people who have the e4 allele will develop the disease. | [
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What are the treatments for Reticulohistiocytoma ? ### Doctor:
How might reticulohistiocytoma be treated? Reticulohistiocytoma (RH) typically resolve spontaneously over a period of months to years; however, surgical excision usually results in a cure. | [
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Is achondroplasia inherited ? ### Doctor:
Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. In the remaining cases, people with achondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage. These individuals are usually stillborn or die shortly after birth from respiratory failure. | [
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What causes Heart Failure ? ### Doctor:
Heart failure is caused by other diseases and conditions that damage the heart muscle. It is most commonly caused by coronary artery disease, including heart attack. Diabetes and high blood pressure also contribute to heart failure risk. People who have had a heart attack are at high risk of developing heart failure. | [
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What is (are) Periventricular heterotopia ? ### Doctor:
Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. Less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Others are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Duane syndrome type 1 ? ### Doctor:
Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Who is at risk for Oral Cavity and Oropharyngeal Cancer? ? ### Doctor:
Key Points
- Avoiding risk factors and increasing protective factors may help prevent cancer. - The following are risk factors for oral cavity cancer and oropharyngeal cancer: - Tobacco use - Alcohol use - Tobacco and alcohol use - Betel quid or gutka chewing - Personal history of head and neck cancer - The following is a risk factor for oropharyngeal cancer: - HPV infection - The following is a protective factor for oral cavity cancer and oropharyngeal cancer: - Quitting smoking - It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer. - Cancer prevention clinical trials are used to study ways to prevent cancer. | [
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What are the symptoms of Microcephaly brain defect spasticity hypernatremia ? ### Doctor:
What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. 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 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Hypertonia 90% Microcephaly 90% Holoprosencephaly 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What to do for What I need to know about Kidney Failure and How Its Treated ? ### Doctor:
Eating healthy foods can help you keep up your energy and strength. All dialysis and transplant centers have a dietitian. The dietitian helps people with kidney failure learn about healthy food choices. You should talk with your centers dietitian to make a meal plan. The best diet for you will depend on which kidney failure treatment you choose after talking with your doctor. - Hemodialysis - Limit how much liquid and water you drink. Fluid can build up in your body between hemodialysis sessions. Also, many foods contain water. The extra fluid in your body can cause swelling and high blood pressure. Extra fluid in your body makes your heart work harder. - - Limit sodium, or salt. Watch out for sodium in frozen foods and prepared meals. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Subcortical band heterotopia ? ### Doctor:
Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to frontonasal dysplasia ? ### Doctor:
Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3. These genes provide instructions for making proteins that are necessary for normal development, particularly of the head and face, before birth. The proteins produced from the ALX3, ALX4, and ALX1 genes are transcription factors, which means they attach (bind) to DNA and control the activity of certain genes. Specifically, the proteins control the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and that they are positioned correctly during development. The ALX3 and ALX4 proteins are primarily involved in the development of the nose and surrounding tissues, while the ALX1 protein is involved in development of the eyes, nose, and mouth. | [
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What are the genetic changes related to Turner syndrome ? ### Doctor:
Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. The missing genetic material affects development before and after birth. About half of individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent. | [
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What to do for Multiple Endocrine Neoplasia Type 1 ? ### Doctor:
- Multiple endocrine neoplasia type 1 (MEN1) is an inherited disorder that causes hormone-secreting tumors in the duodenum and the endocrine glands-most often the parathyroid, pancreas, and pituitary. - Overactive parathyroid glands can lead to tiredness, weakness, muscle or bone pain, constipation, indigestion, kidney stones, or thinning of bones. - Pancreatic and duodenal endocrine tumors called gastrinomas can cause dangerous stomach or intestinal ulcers. - Pituitary tumors called prolactinomas can cause excessive production of breast milk or interfere with fertility in women or with sex drive and fertility in men. - Although many tumors associated with MEN1 are benign, about half of people with MEN1 will eventually develop a cancerous tumor. - MEN1 carriers can be detected through gene testing or other laboratory tests. | [
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What are the symptoms of Von Willebrand Disease ? ### Doctor:
The signs and symptoms of von Willebrand disease (VWD) depend on which type of the disorder you have. They also depend on how serious the disorder is. Many people have such mild symptoms that they don't know they have VWD. If you have type 1 or type 2 VWD, you may have the following mild-to-moderate bleeding symptoms:
Frequent, large bruises from minor bumps or injuries
Frequent or hard-to-stop nosebleeds
Prolonged bleeding from the gums after a dental procedure
Heavy or prolonged menstrual bleeding in women
Blood in your stools from bleeding in your intestines or stomach
Blood in your urine from bleeding in your kidneys or bladder
Heavy bleeding after a cut or other accident
Heavy bleeding after surgery
People who have type 3 VWD may have all of the symptoms listed above and severe bleeding episodes for no reason. | [
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Is Isobutyryl-CoA dehydrogenase deficiency inherited ? ### Doctor:
How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) inherited? IBD deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What are the treatments for PDGFRB-associated chronic eosinophilic leukemia ? ### Doctor:
These resources address the diagnosis or management of PDGFRB-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia--Eosinophilic: Treatment - Genetic Testing Registry: Myeloproliferative disorder, chronic, with eosinophilia - MedlinePlus Encyclopedia: Eosinophil Count--Absolute - Seattle Cancer Care Alliance: Hypereosinophilia 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 | [
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What are the treatments for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? ### Doctor:
These resources address the diagnosis or management of LBSL: - Gene Review: Gene Review: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Genetic Testing Registry: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 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 | [
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Is autosomal dominant hyper-IgE syndrome inherited ? ### Doctor:
AD-HIES has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In about half of all cases caused by STAT3 gene mutations, an affected person inherits the genetic change from an affected parent. Other cases result from new mutations in this gene. These cases occur in people with no history of the disorder in their family. | [
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How many people are affected by hystrix-like ichthyosis with deafness ? ### Doctor:
HID is a rare disorder. Its prevalence is unknown. | [
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What are the treatments for congenital dyserythropoietic anemia ? ### Doctor:
These resources address the diagnosis or management of CDA: - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type II - Genetic Testing Registry: Congenital dyserythropoietic anemia, type III - MedlinePlus Encyclopedia: Ham Test - MedlinePlus Encyclopedia: Hepatomegaly - MedlinePlus Encyclopedia: Jaundice - MedlinePlus Encyclopedia: Splenomegaly 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 | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Rotor syndrome ? ### Doctor:
These resources address the diagnosis or management of Rotor syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Gene Review: Gene Review: Rotor Syndrome - Genetic Testing Registry: Rotor syndrome 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 | [
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What causes Sickle Cell Disease ? ### Doctor:
Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease (SCD). The problem in hemoglobin S is caused by a small defect in the gene that directs the production of the beta globin part of hemoglobin. This small defect in the beta globin gene causes a problem in the beta globin part of hemoglobin, changing the way that hemoglobin works. (See Overview.) How Is Sickle Cell Disease Inherited? When the hemoglobin S gene is inherited from only one parent and a normal hemoglobin gene is inherited from the other, a person will have sickle cell trait. People with sickle cell trait are generally healthy. Only rarely do people with sickle cell trait have complications similar to those seen in people with SCD. But people with sickle cell trait are carriers of a defective hemoglobin S gene. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Birdshot chorioretinopathy ? ### Doctor:
What treatments are available for birdshot chorioretinopathy? Unfortunately, there is currently no cure for birdshot chorioretinopathy. Because this condition is rare, there are no established guidelines for treatment. Treatment is determined based on the severity of each affected individual's symptoms. Because birdshot chorioretinopathy is suspected to be an autoimmune disease, therapies aim to regulate the body's immune response. Therapies may include corticosteroids such as prednisone (by injection or medication taken by mouth) or medications that suppress the immune system such as cyclosporine. | [
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How many people are affected by retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? ### Doctor:
RAMSVPS is a rare disorder. Only a small number of affected individuals and families, all from Saudi Arabia, have been described in the medical literature. | [
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What is (are) blepharophimosis, ptosis, and epicanthus inversus syndrome ? ### Doctor:
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited. Other structures in the eyes and face may be mildly affected by BPES. Affected individuals are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Urinary Incontinence in Children ? ### Doctor:
Most UI fades away naturally as a child grows and develops and does not require treatment. When treatment is needed, options include bladder training and related strategies, moisture alarms, and medications. Growth and Development
As children mature
- bladder capacity increases - natural body alarms become activated - an overactive bladder settles down - production of ADH becomes normal - response to the bodys signal that it is time to void improves
Bladder Training and Related Strategies
Bladder training consists of exercises to strengthen the bladder muscles to better control urination. Gradually lengthening the time between trips to the bathroom can also help by stretching the bladder so it can hold more urine. | [
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How many people are affected by Wiskott-Aldrich syndrome ? ### Doctor:
The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 cases per million males worldwide; this condition is rarer in females. | [
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What is (are) Merkel cell carcinoma ? ### Doctor:
Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomavirus has been detected in about 80% of the tumors tested. It is thought that this virus can cause somatic mutations leading to MCC when the immune system is weakened. Other risk factors for developing MCC include ultraviolet radiation and being over 50 years of age. Treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread. | [
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What is (are) Unverricht-Lundborg disease ? ### Doctor:
Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Over time, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Other features include seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. | [
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What are the treatments for Stevens-Johnson syndrome ? ### Doctor:
How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat. [2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected. [2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticosteroids to control inflammation Intravenous immunoglobulins (IVIG) to stop the disease process Treatment for the eye may include artificial tears, antibiotics, or corticosteroids. [2144] | [
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What is (are) Sarcoidosis ? ### Doctor:
Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body. No one is sure what causes sarcoidosis. It affects men and women of all ages and races. It occurs mostly in people ages 20 to 50, African Americans, especially women, and people of Northern European origin. Many people have no symptoms. If you have symptoms, they may include - Cough - Shortness of breath - Weight loss - Night sweats - Fatigue Tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. If you do, prednisone, a type of steroid, is the main treatment. NIH: National Heart, Lung, and Blood Institute | [
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How to prevent Stroke ? ### Doctor:
Taking action to control your risk factors can help prevent or delay a stroke. If youve already had a stroke, these actions can help prevent another one. Be physically active. Physical activity can improve your fitness level and health. Talk with your doctor about what types and amounts of activity are safe for you. Dont smoke, or if you smoke or use tobacco, quit. Smoking can damage and tighten blood vessels and raise your risk of stroke. Talk with your doctor about programs and products that can help you quit. Also, secondhand smoke can damage the bloodvessels. Maintain a healthy weight. If youre overweight or obese, work with your doctor to create a reasonable weight loss plan. Controlling your weight helps you control risk factors for stroke. Make heart-healthy eating choices. Heart-healthy eating can help lower your risk or prevent a stroke. | [
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What is (are) Salivary gland cancer, adult ? ### Doctor:
Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major salivary glands: the parotid glands, the sublingual glands, and the submandibular glands. The National Cancer Institute provides a picture of the anatomy of the salivary glands. Some risk factors for salivary gland cancer are older age, exposure to radiation of the head and/or neck area, and family history. Signs and symptoms of the disease may include: a lump near the ear, cheek, jaw, lip, or inside of the mouth; trouble swallowing; fluid draining from the ear; numbness or weakness in the face; and on-going pain in the face. | [
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Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ? ### Doctor:
How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. | [
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What is (are) Anal Disorders ? ### Doctor:
The anus is the opening of the rectum through which stool passes out of your body. Problems with the anus are common. They include hemorrhoids, abscesses, fissures (cracks), and cancer. You may be embarrassed to talk about your anal troubles. But it is important to let your doctor know, especially if you have pain or bleeding. The more details you can give about your problem, the better your doctor will be able to help you. Treatments vary depending on the particular problem. NIH: National Institute of Diabetes and Digestive and Kidney Diseases | [
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What is (are) glutaric acidemia type I ? ### Doctor:
Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur. The severity of glutaric acidemia type I varies widely; some individuals are only mildly affected, while others have severe problems. In most cases, signs and symptoms first occur in infancy or early childhood, but in a small number of affected individuals, the disorder first becomes apparent in adolescence or adulthood. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Kleefstra syndrome ? ### Doctor:
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Affected individuals may have a high birth weight and childhood obesity. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) ethylmalonic encephalopathy ? ### Doctor:
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy. The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Dextrocardia with unusual facies and microphthalmia ? ### Doctor:
What are the signs and symptoms of Dextrocardia with unusual facies and microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dextrocardia with unusual facies and microphthalmia. 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 facial shape - Anophthalmia - Autosomal recessive inheritance - Choreoathetosis - Cleft palate - Dextrocardia - Intellectual disability - Macrotia - Microphthalmia - Prominent nose - Sloping forehead - Supernumerary ribs - Vertebral segmentation defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Primary orthostatic tremor ? ### Doctor:
Primary orthostatic tremor is a movement disorder characterized by rhythmic muscle contractions that occur in the legs and trunk immediately after standing. It may be perceived more as an unsteadiness than an actual tremor. The tremor may disappear or improve when a person is sitting or walking. Over time, the tremors may become more severe, affecting quality of life and causing increasing disability. In some cases, primary orthostatic tremor may occur with other movement disorders. Individuals with primary orthostatic tremor may be treated with clonazepam and primidone. The cause of this condition is unknown. | [
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What is (are) Chronic Pain ? ### Doctor:
Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain, such as arthritis or cancer. But in some cases there is no clear cause. Problems that cause chronic pain include - Headache - Low back strain - Cancer - Arthritis - Pain from nerve damage Chronic pain usually cannot be cured. But treatments can help. They include medicines, acupuncture, electrical stimulation and surgery. Other treatments include psychotherapy, relaxation and meditation therapy, biofeedback, and behavior modification. NIH: National Institute of Neurological Disorders and Stroke | [
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What is (are) Prurigo nodularis ? ### Doctor:
Prurigo nodularis is a skin condition characterized by hard crusty lumps that itch intensely. The exact cause of the condition is unknown. However, it can occur in isolation or as a result of repeated trauma to chronic pruritus (itching). Treatment for the condition can be challenging. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Ulcerative Colitis ? ### Doctor:
The exact cause of ulcerative colitis is unknown. Researchers believe the following factors may play a role in causing ulcerative colitis:
- overactive intestinal immune system - genes - environment
Overactive intestinal immune system. Scientists believe one cause of ulcerative colitis may be an abnormal immune reaction in the intestine. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. Researchers believe bacteria or viruses can mistakenly trigger the immune system to attack the inner lining of the large intestine. This immune system response causes the inflammation, leading to symptoms. Genes. Ulcerative colitis sometimes runs in families. | [
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Is familial pityriasis rubra pilaris inherited ? ### Doctor:
Familial pityriasis rubra pilaris usually has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals usually inherit the condition from one affected parent. However, the condition is said to have incomplete penetrance because not everyone who inherits the altered gene from a parent develops the condition's characteristic skin abnormalities. The other types of pityriasis rubra pilaris are sporadic, which means they occur in people with no history of the disorder in their family. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Progeria ? ### Doctor:
How might progeria be treated? Management for progeria generally focuses on the signs and symptoms of the condition and may include the following: Exercise, diet modification, and medication when the lipid profile becomes abnormal Frequent small meals to maximize caloric intake Oral hydration Use of shoe pads for foot discomfort due to lack of body fat Use of sunscreen on all exposed areas of skin Nitroglycerin for angina Routine anticongestive therapy if congestive heart failure is present Statins for their putative effect on farnesylation inhibition Anticoagulation therapy if vascular blockage, transient ischemic attacks, stroke, angina, or heart attack occur Routine physical and occupational therapy to help maintain range of motion in large and small joints Although there is currently no cure for progeria, research involving treatments is ongoing and scientists have been making much progress. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is Tourette syndrome inherited ? ### Doctor:
The inheritance pattern of Tourette syndrome is unclear. Although the features of this condition can cluster in families, many genetic and environmental factors are likely to be involved. Among family members of an affected person, it is difficult to predict who else may be at risk of developing the condition. Tourette syndrome was previously thought to have an autosomal dominant pattern of inheritance, which suggests that one mutated copy of a gene in each cell would be sufficient to cause the condition. Several decades of research have shown that this is not the case. Almost all cases of Tourette syndrome probably result from a variety of genetic and environmental factors, not changes in a single gene. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is keratitis-ichthyosis-deafness syndrome inherited ? ### Doctor:
KID syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. A few families have had a condition resembling KID syndrome with an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Affected individuals in these families have liver disease, which is not a feature of the autosomal dominant form. | [
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What are the symptoms of Pheochromocytoma, childhood ? ### Doctor:
What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. 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 - Cafe-au-lait spot - Cerebral hemorrhage - Congenital cataract - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hemangioma - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Neoplasm - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Renal artery stenosis - Tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What are the treatments for Ovarian Low Malignant Potential Tumors ? ### Doctor:
Key Points
- There are different types of treatment for patients with ovarian low malignant potential tumor. - Two types of standard treatment are used: - Surgery - Chemotherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - Follow-up tests may be needed. There are different types of treatment for patients with ovarian low malignant potential tumor. Different types of treatment are available for patients with ovarian low malignant potential tumor. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. | [
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What are the symptoms of Chronic Myelomonocytic Leukemia ? ### Doctor:
Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by CMML or by other conditions. Check with your doctor if you have any of the following: - Fever for no known reason. - Infection. - Feeling very tired. - Weight loss for no known reason. - Easy bruising or bleeding. - Pain or a feeling of fullness below the ribs. | [
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How to diagnose Chondrocalcinosis 2 ? ### Doctor:
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. | [
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What are the treatments for cyclic vomiting syndrome ? ### Doctor:
These resources address the diagnosis or management of cyclic vomiting syndrome: - Children's Hospital of Wisconsin - Genetic Testing Registry: Cyclical vomiting syndrome 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 | [
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Is Hypophosphatasia inherited ? ### Doctor:
How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene (ALPL) in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. The milder forms, especially adult HPP and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner - depending on the effect the ALPL mutation has on enzyme activity. | [
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What is (are) Fungal Infections ? ### Doctor:
If you have ever had athlete's foot or a yeast infection, you can blame a fungus. A fungus is a primitive organism. Mushrooms, mold and mildew are examples. Fungi live in air, in soil, on plants and in water. Some live in the human body. Only about half of all types of fungi are harmful. Some fungi reproduce through tiny spores in the air. You can inhale the spores or they can land on you. As a result, fungal infections often start in the lungs or on the skin. You are more likely to get a fungal infection if you have a weakened immune system or take antibiotics. Fungi can be difficult to kill. For skin and nail infections, you can apply medicine directly to the infected area. Oral antifungal medicines are also available for serious infections. NIH: National Institute of Allergy and Infectious Diseases | [
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What are the treatments for VIPoma ? ### Doctor:
How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency ablation, or hepatic artery embolization. | [
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What are the symptoms of Treacher Collins syndrome ? ### Doctor:
What are the signs and symptoms of Treacher Collins syndrome? The signs and symptoms of Treacher Collins syndrome vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some people have additional eye abnormalities that can lead to vision loss. | [
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What are the treatments for Dry Mouth ? ### Doctor:
Treatment for Dry Mouth Dry mouth treatment will depend on what is causing the problem. If you think you have dry mouth, see your dentist or physician. He or she can help to determine what is causing your dry mouth. If your dry mouth is caused by medicine, your physician might change your medicine or adjust the dosage. If your salivary glands are not working right but can still produce some saliva, your dentist or physician might give you a medicine that helps the glands work better. Your dentist or physician might also suggest that you use artificial saliva to keep your mouth wet. Do's and Don'ts Do's - Do drink water or sugarless drinks often. That will make chewing and swallowing easier when eating. - Do chew sugarless gum or suck on sugarless hard candy to stimulate saliva flow. | [
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What are the symptoms of Rectal Cancer ? ### Doctor:
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Diabetic Neuropathy ? ### Doctor:
Diabetic neuropathy is a peripheral nerve disorder caused by diabetes or poor blood sugar control. The most common types of diabetic neuropathy result in problems with sensation in the feet. It can develop slowly after many years of diabetes or may occur early in the disease. The symptoms are numbness, pain, or tingling in the feet or lower legs. The pain can be intense and require treatment to relieve the discomfort. The loss of sensation in the feet may also increase the possibility that foot injuries will go unnoticed and develop into ulcers or lesions that become infected. In some cases, diabetic neuropathy can be associated with difficulty walking and some weakness in the foot muscles. There are other types of diabetic-related neuropathies that affect specific parts of the body. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose Osteogenesis imperfecta type VI ? ### Doctor:
Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. | [
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What are the genetic changes related to recombinant 8 syndrome ? ### Doctor:
Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8. | [
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What is (are) Bloom syndrome ? ### Doctor:
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood. Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Lipoic acid synthetase deficiency ? ### Doctor:
Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person. | [
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What are the symptoms of Patent Ductus Arteriosus ? ### Doctor:
A heart murmur may be the only sign that a baby has patent ductus arteriosus (PDA). A heart murmur is an extra or unusual sound heard during the heartbeat. Heart murmurs also have other causes besides PDA, and most murmurs are harmless. Some infants may develop signs or symptoms of volume overload on the heart and excess blood flow in the lungs. Signs and symptoms may include:
Fast breathing, working hard to breathe, or shortness of breath. Premature infants may need increased oxygen or help breathing from a ventilator. Poor feeding and poor weight gain. Tiring easily. Sweating with exertion, such as while feeding. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Mastocytic enterocolitis ? ### Doctor:
What are the signs and symptoms of mastocytic enterocolitis? According to the medical literature, signs and symptoms of mastocytic enterocolitis primarily include chronic, intractable diarrhea and abdominal pain. Other symptoms that have occasionally been reported include constipation, nausea, and/or vomiting. Although other signs and symptoms appear to have been reported by individuals on various online forums and support Web sites, we were unable to locate additional information about symptoms of the condition in the available medical literature. At this time, literature about mastocytic enterocolitis is scarce. | [
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What are the symptoms of Glutamate formiminotransferase deficiency ? ### Doctor:
What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase 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) Aminoaciduria - Autosomal recessive inheritance - Growth delay - Hypersegmentation of neutrophil nuclei - Intellectual disability - Megaloblastic anemia - Positive ferric chloride test - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Heart Valve Disease ? ### Doctor:
Heart valve disease occurs if one or more of your heart valves don't work well. The heart has four valves: the tricuspid, pulmonary, mitral,and aortic valves. These valves have tissue flaps that open and close with each heartbeat. The flaps make sure blood flows in the right direction through your heart's four chambers and to the rest of your body. Healthy Heart Cross-Section
Birth defects, age-related changes, infections, or other conditions can cause one or more of your heart valves to not open fully or to let blood leak back into the heart chambers. This can make your heart work harder and affect its ability to pump blood. Overview
How the Heart Valves Work
At the start of each heartbeat, blood returning from the body and lungs fills the atria (the heart's two upper chambers). | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Glutaric acidemia type II ? ### Doctor:
What are the signs and symptoms of Glutaric acidemia type II? Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body. The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to argininosuccinic aciduria ? ### Doctor:
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. | [
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What is (are) Farber's disease ? ### Doctor:
Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner. | [
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What are the genetic changes related to Lowe syndrome ? ### Doctor:
Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. By controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances to and from the cell membrane. This enzyme is also involved in the regulation of the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move. Some mutations in the OCRL gene prevent the production of any OCRL enzyme. Other mutations reduce or eliminate the activity of the enzyme or prevent it from interacting with other proteins within the cell. | [
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What are the treatments for Klumpke paralysis ? ### Doctor:
How might Klumpke paralysis be treated? The affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery. Most infants recover from neuropraxia within 4 months. Parents or guardians of infants that show no evidence of spontaneous recovery at 4 months, may be counseled regarding additional treatment options. These treatment options may include: Surgery on the nerves (e.g., nerve grafts and neuroma excision) Tendon transfers to help the muscles that are affected by nerve damage work better | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Troyer Syndrome ? ### Doctor:
The NINDS supports research on genetic disorders such as the hereditary spastic paraplegias. A gene for Troyer syndrome has been identified and others may be identified in the future. Understanding how these genes cause Troyer syndrome and the hereditary spastic paraplegias in general will lead to ways to prevent, treat, and cure these disorders. | [
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What are the treatments for metatropic dysplasia ? ### Doctor:
These resources address the diagnosis or management of metatropic dysplasia: - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Metatrophic dysplasia 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 | [
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What causes Lucey-Driscoll syndrome ? ### Doctor:
What causes Lucey-Driscoll syndrome? Lucey-Driscoll syndrome is caused by high levels of a bilirubin "conjugating enzyme inhibitor which is a substance that limits the ability of bilirubin to bind to an enzyme. When bilirubin does not bind efficiently, it builds up in the bloodstream. This inhibitor is thought to occur in the blood (serum) of pregnant women, and it likely blocks the enzyme activity necessary for the development of the fetal liver. Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene(UGT1A1). | [
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What are the treatments for Cohen syndrome ? ### Doctor:
How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correction of the problems, usually with glasses, often leads to general improvement of cognitive skills. If neutropenia (a condition in which an abnormally low number of white blood cells called neutrophils are present, which may result in an increased risk for infections) is discovered when the blood is examined, treatment should be given. Follow-up should include annual eye exams and repeat testing of white blood cell count. Early intervention and physical, occupational, and speech therapy can address developmental delay, hypotonia, joint hyperextensibility, and motor clumsiness. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? ### Doctor:
What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1. 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) Blepharophimosis 90% Depressed nasal bridge 90% Epicanthus 90% Ptosis 90% Decreased fertility 50% Lacrimation abnormality 50% Myopia 50% Nystagmus 7.5% Strabismus 7.5% Synophrys 7.5% Abnormality of the breast - Abnormality of the hair - Amenorrhea - Autosomal dominant inheritance - Cupped ear - Epicanthus inversus - Female infertility - High palate - Hypermetropia - Increased circulating gonadotropin level - Microcornea - Microphthalmia - Premature ovarian failure - Telecanthus - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) familial pityriasis rubra pilaris ? ### Doctor:
Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. | [
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Subsets and Splits