question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
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Is Kienbock's disease inherited ? | Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition. | [
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How many people are affected by Silver syndrome ? | Although Silver syndrome appears to be a rare condition, its exact prevalence is unknown. | [
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What are the treatments for Noonan syndrome 3 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi... | [
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What is (are) Mycobacterial Infections ? | Mycobacteria are a type of germ. There are many different kinds. The most common one causes tuberculosis. Another one causes leprosy. Still others cause infections that are called atypical mycobacterial infections. They aren't "typical" because they don't cause tuberculosis. But they can still harm people, especially p... | [
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How many people are affected by aniridia ? | Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide. | [
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What is (are) Albright's hereditary osteodystrophy ? | Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). The ... | [
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What are the treatments for Multi-Infarct Dementia ? | There is no treatment available to reverse brain damage that has been caused by a stroke. Treatment focuses on preventing future strokes by controlling or avoiding the diseases and medical conditions that put people at high risk for stroke: high blood pressure, diabetes, high cholesterol, and cardiovascular disease. Th... | [
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What causes Crohn's Disease ? | The exact cause of Crohn's disease is unknown. Researchers believe the following factors may play a role in causing Crohn's disease:
- autoimmune reaction - genes - environment
Autoimmune reaction. Scientists believe one cause of Crohn's disease may be an autoimmune reactionwhen a pe... | [
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Who is at risk for Hypersensitivity Pneumonitis? ? | People who repeatedly breathe in foreign substances are at risk for hypersensitivity pneumonitis (HP). These substances, which also are known as antigens, include molds, dusts, and chemicals. However, most people who breathe in these substances don't develop HP.
People at increased risk include:
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What are the symptoms of Graves' disease ? | What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' disease. 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... | [
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Do you have information about Teen Mental Health | Summary : Being a teenager is hard. You're under stress to be liked, do well in school, get along with your family, and make big decisions. You can't avoid most of these pressures, and worrying about them is normal. But feeling very sad, hopeless or worthless could be warning signs of a mental health problem. Mental... | [
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What are the symptoms of Congenital generalized lipodystrophy type 4 ? | What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 4. If the information is available, the table below includes how often the symptom is seen in people with this cond... | [
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How to prevent Alzheimer's Disease ? | A number of studies suggest that eating certain foods may help keep the brain healthyand that others can be harmful. Researchers are looking at whether a healthy dietone that includes lots of fruits, vegetables, and whole grains and is low in fat and added sugarcan help prevent Alzheimers. For more information about he... | [
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What are the symptoms of Vesicoureteral Reflux ? | In many cases, a child with VUR has no symptoms. When symptoms are present, the most common is a urinary tract infection (UTI). VUR can lead to infection because urine that remains in the childs urinary tract provides a place for bacteria to grow. Studies estimate that 30 percent of children and up to 70 percent of inf... | [
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How to prevent Inguinal Hernia ? | People cannot prevent the weakness in the abdominal wall that causes indirect inguinal hernias. However, people may be able to prevent direct inguinal hernias by maintaining a healthy weight and not smoking.
People can keep inguinal hernias from getting worse or keep inguinal hernias from recurring aft... | [
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What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ? | What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. If the information is availabl... | [
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Is septo-optic dysplasia inherited ? | Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family. Less commonly, septo-optic dysplasia has been found to run in families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means tha... | [
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What are the symptoms of Gray platelet syndrome ? | What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate i... | [
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Is X-linked hypophosphatemia inherited ? | How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the... | [
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What is (are) spondyloenchondrodysplasia with immune dysregulation ? | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited condition that primarily affects bone growth and immune system function. The signs and symptoms of SPENCDI can become apparent anytime from infancy to adolescence. Bone abnormalities in individuals with SPENCDI include flattened spinal bone... | [
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Is autosomal dominant partial epilepsy with auditory features inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered LGI1 gene in each cell is sufficient to raise the risk of developing epilepsy. About two-thirds of people who inherit a mutation in this gene will develop seizures. In most cases, an affected person has one affected parent... | [
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What are the symptoms of Colorectal Cancer ? | Most cancers in their early, most treatable stages don't cause any symptoms. That is why it is important to have regular tests to check for cancer even when you might not notice anything wrong. Common Signs and Symptoms When colorectal cancer first develops, there may be no symptoms at all. But as the cancer grows, it ... | [
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What are the genetic changes related to succinate-CoA ligase deficiency ? | Succinate-CoA ligase deficiency results from mutations in the SUCLA2 or SUCLG1 gene. SUCLG1 gene mutations can cause fatal infantile lactic acidosis, while mutations in either gene can cause the somewhat less severe form of the condition. The SUCLA2 and SUCLG1 genes each provide instructions for making one part (subun... | [
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What are the symptoms of Familial osteochondritis dissecans ? | What are the signs and symptoms of Familial osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the car... | [
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What is (are) Dysautonomia ? | Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or gener... | [
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What are the symptoms of Juvenile Huntington disease ? | What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. Several of... | [
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What are the treatments for Kufs disease ? | These resources address the diagnosis or management of Kufs disease: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Adult neuronal ceroid lipofuscinosis - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 4B autosomal dominant These resources from MedlinePlus offer in... | [
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What is (are) What I need to know about Hepatitis C ? | Chronic hepatitis C is a long-lasting infection with the hepatitis C virus. Chronic hepatitis C occurs when the body cant get rid of the hepatitis C virus. Most hepatitis C infections become chronic.
Without treatment, chronic hepatitis C can cause liver cancer or severe liver damage that leads to live... | [
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What to do for What I need to know about Hepatitis B ? | If you have chronic hepatitis B, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements. | [
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How many people are affected by familial hypertrophic cardiomyopathy ? | Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States. | [
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What are the treatments for Relapsing polychondritis ? | How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and... | [
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How many people are affected by Netherton syndrome ? | Netherton syndrome is estimated to affect 1 in 200,000 newborns. | [
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What are the treatments for Biliary Atresia ? | Biliary atresia is treated with surgery, called the Kasai procedure, or a liver transplant.
Kasai Procedure
The Kasai procedure, named after the surgeon who invented the operation, is usually the first treatment for biliary atresia. During a Kasai procedure, the pediatric surgeon remov... | [
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What is the outlook for Lennox-Gastaut Syndrome ? | The prognosis for individuals with Lennox-Gastaut syndrome varies. There is no cure for the disorder. Complete recovery, including freedom from seizures and normal development, is very unusual. | [
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What is (are) Childhood Nephrotic Syndrome ? | The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adu... | [
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Do you have information about Laser Eye Surgery | Summary : For many people, laser eye surgery can correct their vision so they no longer need glasses or contact lenses. Laser eye surgery reshapes the cornea, the clear front part of the eye. This changes its focusing power. There are different types of laser eye surgery. LASIK - laser-assisted in situ keratomileusi... | [
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What are the treatments for type 1 diabetes ? | These resources address the diagnosis or management of type 1 diabetes: - Food and Drug Administration: Blood Glucose Measuring Devices - Food and Drug Administration: Insulin - Genetic Testing Registry: Diabetes mellitus type 1 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 10 - Genetic Testing... | [
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Is spondylocarpotarsal synostosis syndrome inherited ? | Spondylocarpotarsal synostosis syndrome caused by FLNB gene mutations 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 sho... | [
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Is cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy inherited ? | As its name suggests, this condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance 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... | [
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What is (are) Hypocomplementemic urticarial vasculitis syndrome ? | Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. Patients with ... | [
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What are the treatments for Prostate Cancer ? | Through research, doctors are trying to find new, more effective ways to treat prostate cancer. Cryosurgery -- destroying cancer by freezing it -- is under study as an alternative to surgery and radiation therapy. To avoid damaging healthy tissue, the doctor places an instrument known as a cryoprobe in direct contact w... | [
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What causes Warthin tumor ? | What causes Warthin tumor? The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor. | [
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What are the treatments for Loin pain hematuria syndrome ? | How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intrave... | [
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What is (are) Hypertrichosis lanuginosa congenita ? | Hypertrichosis lanuginosa congenita is a congenital (present from birth) skin disease characterized by excessive lanugo (very fine, soft, unpigmented) hair covering the entire body, with the exception of the palms, soles, and mucous membranes. The hair can grow to be 3 to 5 cm in length. This condition appears to follo... | [
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What is (are) Osteogenesis imperfecta type I ? | Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild ... | [
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What is (are) Thrombocytopenia ? | Thrombocytopenia (THROM-bo-si-to-PE-ne-ah) is a condition in which your blood has a lower than normal number of blood cell fragments called platelets (PLATE-lets).
Platelets are made in your bone marrow along with other kinds of blood cells. They travel through your blood vessels and stick together (cl... | [
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What is the outlook for Monomelic Amyotrophy ? | The symptoms of MMA usually progress slowly for one to two years before reaching a plateau, and then remain stable for many years. Disability is generally slight. Rarely, the weakness progresses to the opposite limb. There is also a slowly progressive variant of MMA known as O'Sullivan-McLeod syndrome, which only affec... | [
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Do you have information about Antibiotics | Summary : Antibiotics are powerful medicines that fight bacterial infections. Used properly, antibiotics can save lives. They either kill bacteria or keep them from reproducing. Your body's natural defenses can usually take it from there. Antibiotics do not fight infections caused by viruses, such as - Colds ... | [
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What are the symptoms of TAR syndrome ? | What are the signs and symptoms of TAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for TAR 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 ... | [
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What is (are) isolated Pierre Robin sequence ? | Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (a cleft palate). This condition is described as a "sequence" because one of its features,... | [
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What is (are) What I need to know about Crohn's Disease ? | Intestinal blockage can occur in people with Crohns disease when scar tissue blocks the intestinal passage. A narrow intestinal passage is called a stricture. When the passage blocks completely, food and stool stop moving, causing abdominal cramps and vomiting. If you have these symptoms, you should see a health care p... | [
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What are the symptoms of Lipidosis with triglycerid storage disease ? | What are the signs and symptoms of Lipidosis with triglycerid storage disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipidosis with triglycerid storage disease. If the information is available, the table below includes how often the symptom is seen in people with this condit... | [
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Do you have information about Carbohydrates | Summary : Carbohydrates are one of the main types of nutrients. They are the most important source of energy for your body. Your digestive system changes carbohydrates into glucose (blood sugar). Your body uses this sugar for energy for your cells, tissues and organs. It stores any extra sugar in your liver and muscles... | [
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How many people are affected by Townes-Brocks Syndrome ? | The prevalence of this condition is unknown, although one study estimated that it may affect 1 in 250,000 people. It is difficult to determine how frequently Townes-Brocks syndrome occurs because the varied signs and symptoms of this disorder overlap with those of other genetic syndromes. | [
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What to do for Kidney Stones in Adults ? | #NAME? | [
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How to diagnose Congenital adrenal hyperplasia ? | Is genetic testing avaliable for congenital adrenal hyperplasia? Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic Test... | [
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How many people are affected by PMM2-congenital disorder of glycosylation ? | More than 800 individuals with PMM2-CDG have been identified worldwide. | [
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What causes What I need to know about Diverticular Disease ? | Doctors are not sure what causes diverticular disease. Many think a diet low in fiber is the main cause. Fiber is a part of food that your body cannot digest. It is found in many fruits and vegetables. Fiber stays in the colon and absorbs water, which makes bowel movements easier to pass. Diets low in fiber may cause c... | [
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What are the genetic changes related to mucopolysaccharidosis type I ? | Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce... | [
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What are the genetic changes related to Y chromosome infertility ? | As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Because only mal... | [
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What is (are) Ear Disorders ? | Your ear has three main parts: outer, middle and inner. You use all of them in hearing. Sound waves come in through your outer ear. They reach your middle ear, where they make your eardrum vibrate. The vibrations are transmitted through three tiny bones, called ossicles, in your middle ear. The vibrations travel to you... | [
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What are the symptoms of Congenital adrenal hyperplasia ? | What are the signs and symptoms of Congenital adrenal hyperplasia? The signs and symptoms of congenital adrenal hyperplasia (CAH) vary based on many factors including the type of CAH, the age of diagnosis and the sex of the affected person. For example, girls with the severe form of CAH may be born with ambiguous genit... | [
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What is (are) adermatoglyphia ? | Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have th... | [
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What causes Proctitis ? | Proctitis has many causes, including acute, or sudden and short-term, and chronic, or long-lasting, conditions. Among the causes are the following:
- Sexually transmitted diseases (STDs). STDs that can be passed when a person is receiving anal sex are a common cause of proctitis. Common STD infections ... | [
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What are the genetic changes related to Perrault syndrome ? | Perrault syndrome has several genetic causes. C10orf2, CLPP, HARS2, LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including C10orf2, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the... | [
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What are the symptoms of Childhood Soft Tissue Sarcoma ? | The most common sign of childhood soft tissue sarcoma is a painless lump or swelling in soft tissues of the body. A sarcoma may appear as a painless lump under the skin, often on an arm, a leg, or the trunk. There may be no other signs or symptoms at first. As the sarcoma gets bigger and presses on nearby organs, nerve... | [
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What is (are) Sleep Apnea ? | Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathin... | [
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What is (are) Merkel cell carcinoma ? | 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 polyomav... | [
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What are the treatments for tumor necrosis factor receptor-associated periodic syndrome ? | These resources address the diagnosis or management of TRAPS: - Genetic Testing Registry: TNF receptor-associated periodic fever syndrome (TRAPS) - University College London: National Amyloidosis Center (UK) These resources from MedlinePlus offer information about the diagnosis and management of various health cond... | [
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What is (are) Medicare and Continuing Care ? | The general number for Medicare is 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048. You can also visit http://www.medicare.gov. The "Medicare & You" handbook is mailed out to all Medicare enrollees in the fall. It includes detailed information about all aspects of Medicare. On the following pages ... | [
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What are the genetic changes related to autoimmune polyglandular syndrome, type 1 ? | Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. The AIRE gene provides instructions for making a protein called the autoimmune regulator. As its name suggests, this protein plays a critical role in regulating certain aspects of immune system function. Specifically, it helps the body disting... | [
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What are the treatments for Mainzer-Saldino syndrome ? | These resources address the diagnosis or management of Mainzer-Saldino syndrome: - MedlinePlus Encyclopedia: Electroretinography - National Institutes of Diabetes and Digestive and Kidney Diseases: Treatment Methods for Kidney Failure in Children These resources from MedlinePlus offer information about the diagnosi... | [
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What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ? | What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation a... | [
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What are the symptoms of Carnitine-acylcarnitine translocase deficiency ? | What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This diso... | [
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What are the symptoms of Idiopathic acute eosinophilic pneumonia ? | What are the signs and symptoms of Idiopathic acute eosinophilic pneumonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic acute eosinophilic pneumonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | [
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How to diagnose Proteinuria ? | Tests that measure the amount of creatinine in the blood will show whether a persons kidneys are removing wastes efficiently. Having too much creatinine in the blood is a sign that a person has kidney damage. The doctor can use the creatinine measurement to estimate how efficiently the kidneys are filtering the blood. ... | [
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What is (are) Hyperparathyroidism-jaw tumor syndrome ? | Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15... | [
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What causes Klinefelter syndrome ? | What causes Klinefelter syndrome? Klinefelter syndrome usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or mo... | [
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What is (are) GM3 synthase deficiency ? | GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin withi... | [
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How many people are affected by globozoospermia ? | Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility. | [
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What causes Arrhythmia ? | An arrhythmia can occur if the electrical signals that control the heartbeat are delayed or blocked. This can happen if the special nerve cells that produce electrical signals don't work properly. It also can happen if the electrical signals don't travel normally through the heart.
An arrhythmia also c... | [
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What are the treatments for Baraitser-Winter syndrome ? | These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 These resources from MedlinePlus offer information about the diagnosis and management of various health ... | [
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What is (are) eosinophil peroxidase deficiency ? | Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or... | [
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What is (are) trichohepatoenteric syndrome ? | Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. Within the first few week... | [
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What are the symptoms of Autosomal dominant deafness-onychodystrophy syndrome ? | What are the signs and symptoms of Autosomal dominant deafness-onychodystrophy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant deafness-onychodystrophy syndrome. If the information is available, the table below includes how often the symptom is seen in peo... | [
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Is juvenile hyaline fibromatosis inherited ? | 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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How to diagnose Achondrogenesis ? | Is genetic testing is available for achondrogenesis? Genetic testing can help distinguish between the different types of achondrogenesis. GeneTests lists the names of laboratories that are performing genetic testing for achondrogenesis type 1B and type 2. Please note: Most of the laboratories listed through GeneTests d... | [
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What is (are) Central core disease ? | Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the nec... | [
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What are the symptoms of Baraitser Brett Piesowicz syndrome ? | What are the signs and symptoms of Baraitser Brett Piesowicz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser Brett Piesowicz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | [
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How many people are affected by cerebrotendinous xanthomatosis ? | The incidence of cerebrotendinous xanthomatosis is estimated to be 3 to 5 per 100,000 people worldwide. This condition is more common in the Moroccan Jewish population with an incidence of 1 in 108 individuals. | [
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What causes Hypothalamic dysfunction ? | What causes hypothalamic dysfunction? Hypothalamic dysfunction may be caused by any of the following : Birth defects of the brain or hypothalamus (e.g. holoprosencephaly, septo-optic dysplasia) Genetic disorders (e.g. Prader-Willi syndrome, growth hormone deficiency) Eating disorders (e.g. anorexia, bulimia) Tumors (e.... | [
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What is (are) Amyloidosis and Kidney Disease ? | Primary amyloidosis and dialysis-related amyloidosis are the types of amyloidosis that can affect the kidneys.
Primary Amyloidosis of the Kidneys
The kidneys are the organs most commonly affected by primary amyloidosis. Amyloid deposits damage the kidneys and make it harder for them to... | [
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What is (are) cerebral cavernous malformation ? | Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels ar... | [
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What is (are) Monkeypox Virus Infections ? | Monkeypox is a rare viral disease. It occurs mostly in central and western Africa. Wild rodents and squirrels carry it, but it is called monkeypox because scientists saw it first in lab monkeys. In 2003, it was reported in prairie dogs and humans in the U.S. Centers for Disease Control and Prevention | [
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what research (or clinical trials) is being done for Gaucher Disease ? | The mission of the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health), is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research to find ways to treat ... | [
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What are the treatments for Autosomal recessive polycystic kidney disease ? | Is there a cure or treatment for autosomal recessive polycystic kidney disease? Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition b... | [
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Is ulcerative colitis inherited ? | The inheritance pattern of ulcerative colitis is unknown because many genetic and environmental factors are likely to be involved. Even though the inheritance pattern of this condition is unclear, having a family member with ulcerative colitis increases the risk of developing the condition. | [
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What are the symptoms of Multiple endocrine neoplasia type 1 ? | What are the signs and symptoms of Multiple endocrine neoplasia type 1? Multiple endocrine neoplasia, type 1 (MEN1) is characterized primarily by several different types of endocrine tumors. People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other ... | [
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Do you have information about Stem Cells | Summary : Stem cells are cells with the potential to develop into many different types of cells in the body. They serve as a repair system for the body. There are two main types of stem cells: embryonic stem cells and adult stem cells. Stem cells are different from other cells in the body in three ways: - The... | [
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What are the treatments for Heart Palpitations ? | Treatment for palpitations depends on their cause. Most palpitations are harmless and often go away on their own. In these cases, no treatment is needed.
Avoiding Triggers
Your palpitations may be harmless but bothersome. If so, your doctor may suggest avoiding things that trigger them... | [
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