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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.
Summary : If you have stained, broken or uneven teeth, cosmetic dentistry can help. Cosmetic dentistry is different from orthodontic treatment, which can straighten your teeth with braces or other devices. Cosmetic dental procedures include - Bleaching to make teeth whiter - Repairing chips or rough spots with fillings that match your teeth - Filling cavities with tooth-colored materials - Reshaping teeth that don't match the others - Closing gaps between teeth - Covering broken teeth with porcelain crowns
Mutations in the SMARCAL1 gene are inherited in an autosomal recessive pattern, which means that an increased risk of Schimke immuno-osseous dysplasia results from mutations in both copies of the SMARCAL1 gene in each cell. 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.
If a woman loses a pregnancy after she's past her 20th week, it's called a stillbirth. Stillbirths are due to natural causes. They can happen before delivery or during delivery. Causes include: - Problems with the placenta, the organ that transports oxygen and nutrients to the fetus - Genetic problems with the fetus - Fetal infections - Other physical problems in the fetus In at least half of all cases, it is not possible to tell why the baby died. If stillbirth happens before delivery, your health care provider may induce labor or perform a Cesarean section to deliver the fetus. In some cases, you can wait until you go into labor yourself. This usually happens within two weeks of stillbirth. Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a stillbirth go on to have healthy babies. NIH: National Institute of Child Health and Human Development
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.
Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue. In the early stages of cryptogenic cirrhosis, people often have no symptoms because the liver has enough normal tissue to function. Signs and symptoms become apparent as more of the liver is replaced by scar tissue. Affected individuals can experience fatigue, weakness, loss of appetite, weight loss, nausea, swelling (edema), enlarged blood vessels, and yellowing of the skin and whites of the eyes (jaundice). People with cryptogenic cirrhosis may develop high blood pressure in the vein that supplies blood to the liver (portal hypertension). Cryptogenic cirrhosis can lead to type 2 diabetes, although the mechanism is unclear. Some people with cryptogenic cirrhosis develop cancer of the liver (hepatocellular cancer).
Prekallikrein deficiency is caused by mutations in the KLKB1 gene, which provides instructions for making a protein called prekallikrein. This protein, when converted to an active form called plasma kallikrein in the blood, is involved in the early stages of blood clotting. Plasma kallikrein plays a role in a process called the intrinsic coagulation pathway (also called the contact activation pathway). This pathway turns on (activates) proteins that are needed later in the clotting process. Blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. The KLKB1 gene mutations that cause prekallikrein deficiency reduce or eliminate functional plasma kallikrein, which likely impairs the intrinsic coagulation pathway. Researchers suggest that this lack (deficiency) of functional plasma kallikrein protein does not generally cause any symptoms because another process called the extrinsic coagulation pathway (also known as the tissue factor pathway) can compensate for the impaired intrinsic coagulation pathway.
These resources address the diagnosis or management of VACTERL association: - MedlinePlus Encyclopedia: Tracheoesophageal Fistula and Esophageal Atresia Repair 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
Sometimes, cancer cells break away from the malignant tumor in the prostate and enter the bloodstream or the lymphatic system and travel to other organs in the body. When cancer spreads from its original location in the prostate to another part of the body such as the bone, it is called metastatic prostate cancer, not bone cancer. Doctors sometimes call this "distant" disease.
Is cri du chat syndrome inherited? Most cases of cri du chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most affected individuals do not have a history of the disorder in their family. About 10 percent of people with cri du chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri du chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5. This results in the intellectual disability and other health problems characteristic of the disorder.
Microgastria limb reduction defect is a rare disorder with less than 60 previously reported cases. Children born with this condition have a small stomach (microgastria) and limb abnormalities. Symptoms may include vomiting, aspiration pneumonia and growth problems. Abnormalities involving the heart, lungs, kidney and gastrointestinal system are also symptoms of this condition. This condition is caused by an error that occurs during the development of the embryo. Treatment may involve reconstructive surgery (Hunt-Lawrence pouch) to help improve the child's feeding abilities.
Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. Type 2B is relatively uncommon, accounting for about 5 percent of all cases of type 2. The prevalence of multiple endocrine neoplasia type 4 is unknown, although the condition appears to be rare.
What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role in signaling. They are important for many cell types, including neurons, liver cells and kidney cells. Cilia also play a role in the senses such as sight, hearing, and smell. Mutations in the genes responsible for Joubert syndrome and related disorders cause problems with the structure and function of cilia, likely disrupting important signaling pathways during development. However, it is still unclear how specific developmental abnormalities result from these problems.
Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. Different diseases can block the bile ducts and cause a problem with the flow of bile: - Gallstones, which can increase pressure in the gallbladder and cause a gallbladder attack. The pain usually lasts from one to several hours. - Cancer - Infections - Birth defects, such as biliary atresia. It is the most common reason for liver transplants in children in the United States. - Inflammation, which can cause scarring. Over time, this can lead to liver failure. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
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 adults and the amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. Kidneys work at the microscopic level. The kidney is not one large filter. Each kidney is made up of about a million filtering units called nephrons. Each nephron filters a small amount of blood. The nephron includes a filter, called the glomerulus, and a tubule. The nephrons work through a two-step process. The glomerulus lets fluid and waste products pass through it; however, it prevents blood cells and large molecules, mostly proteins, from passing. The filtered fluid then passes through the tubule, which sends needed minerals back to the bloodstream and removes wastes.
MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity. MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The condition is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person.
How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene (mutation) in each cell is called a carrier. She can pass on the mutation, but usually does not experience signs and symptoms of the condition. Carrier women have a 50% chance of passing the mutation to their children, males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will nearly always have normal vision. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known.
When you're dehydrated, your body doesn't have enough fluid to work properly. An average person on an average day needs about 3 quarts of water. But if you're out in the hot sun, you'll need a lot more than that. Most healthy bodies are very good at regulating water. Elderly people, young children and some special cases - like people taking certain medications - need to be a little more careful. Signs of dehydration in adults include - Being thirsty - Urinating less often than usual - Dark-colored urine - Dry skin - Feeling tired - Dizziness and fainting Signs of dehydration in babies and young children include a dry mouth and tongue, crying without tears, no wet diapers for 3 hours or more, a high fever and being unusually sleepy or drowsy. If you think you're dehydrated, drink small amounts of water over a period of time. Taking too much all at once can overload your stomach and make you throw up. For people exercising in the heat and losing a lot of minerals in sweat, sports drinks can be helpful. Avoid any drinks that have caffeine.
PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability.
Many of the Institutes at the NIH, including the NINDS, are sponsoring research to understand what causes AS and how it can be effectively treated. One study is using functional magnetic resonance imaging (fMRI) to show how abnormalities in particular areas of the brain cause changes in brain function that result in the symptoms of AS and other ASDs.Other studies include aclinical trial testing the effectiveness of an anti-depressant in individuals with AS and HFA who exhibit high levels of obsessive/ritualistic behavior and a long-range study to collect and analyze DNA samples from a large group of children with AS and HFA and their families to identify genes and genetic interactions that are linked to AS and HFA.
Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified.
These resources address the diagnosis or management of lactate dehydrogenase deficiency: - Genetic Testing Registry: Glycogen storage disease XI - Genetic Testing Registry: Lactate dehydrogenase B deficiency - MedlinePlus Encyclopedia: LDH Isoenzymes - MedlinePlus Encyclopedia: Lactate Dehydrogenase Test 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
Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more common in certain populations. For example, the condition occurs in approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of Quebec, Canada.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe brain malformations or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people.
Pericarditis occurs in people of all ages. However, men aged 20 to 50 are more likely to develop it than others. People who are treated for acute pericarditis may get it again. This may happen in 15 to 30 percent of people who have the condition. A small number of these people go on to develop chronic pericarditis.
Shock happens when not enough blood and oxygen can get to your organs and tissues. It causes very low blood pressure and may be life threatening. It often happens along with a serious injury. There are several kinds of shock. Hypovolemic shock happens when you lose a lot of blood or fluids. Causes include internal or external bleeding, dehydration, burns, and severe vomiting and/or diarrhea. Septic shock is caused by infections in the bloodstream. A severe allergic reaction can cause anaphylactic shock. An insect bite or sting might cause it. Cardiogenic shock happens when the heart cannot pump blood effectively. This may happen after a heart attack. Neurogenic shock is caused by damage to the nervous system. Symptoms of shock include - Confusion or lack of alertness - Loss of consciousness - Sudden and ongoing rapid heartbeat - Sweating - Pale skin - A weak pulse - Rapid breathing - Decreased or no urine output - Cool hands and feet Shock is a life-threatening medical emergency and it is important to get help right away. Treatment of shock depends on the cause. NIH: National Heart, Lung, and Blood Institute
How might catamenial pneumothorax be diagnosed? The diagnosis should be suspected in women of reproductive age who have several episodes of spontaneous lung collapse (pneumothoraces) and have endometriosis. Medical thoracoscopy or video-assisted thoracoscopy may confirm the diagnosis.
Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, it is very rare for females to have hemophilia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carrier females have about half the usual amount of coagulation factor VIII or coagulation factor IX, which is generally enough for normal blood clotting. However, about 10 percent of carrier females have less than half the normal amount of one of these coagulation factors; these individuals are at risk for abnormal bleeding, particularly after an injury, surgery, or tooth extraction.
What causes salt-wasting, simple virilizing, and nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? Salt-wasting, simple virilizing, and late-onset 21-hydroxylase deficiency are all caused by mutations in the human 21-hydroxylase gene (CYP21A2).
Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. The other forms of oral-facial-digital syndrome are very rare; most have been identified in only one or a few families.
Summary : The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. Cervical cancer screening is usually part of a woman's health checkup. There are two types of tests: the Pap test and the HPV test. For both, the doctor or nurse collects cells from the surface of the cervix. With the Pap test, the lab checks the sample for cancer cells or abnormal cells that could become cancer later. With the HPV test, the lab checks for HPV infection. HPV is a virus that spreads through sexual contact. It can sometimes lead to cancer. If your screening tests are abnormal, your doctor may do more tests, such as a biopsy. Cervical cancer screening has risks. The results can sometimes be wrong, and you may have unnecessary follow-up tests. There are also benefits. Screening has been shown to decrease the number of deaths from cervical cancer. You and your doctor should discuss your risk for cervical cancer, the pros and cons of the screening tests, at what age to start being screened, and how often to be screened.
Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may "white out" or "black out." Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. Fainting usually happens when your blood pressure drops suddenly, causing a decrease in blood flow to your brain. It is more common in older people. Some causes of fainting include - Heat or dehydration - Emotional distress - Standing up too quickly - Certain medicines - Drop in blood sugar - Heart problems When someone faints, make sure that the airway is clear and check for breathing. The person should stay lying down for 10-15 minutes. Most people recover completely. Fainting is usually nothing to worry about, but it can sometimes be a sign of a serious problem. If you faint, it's important to see your health care provider and find out why it happened.
Wagner syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 300 affected individuals have been described worldwide; about half of these individuals are from the Netherlands.
Doctors use blood tests to diagnose gestational diabetes. All diabetes blood tests involve drawing blood at a doctor's office or a commercial facility. Blood samples are sent to a lab for analysis. Screening Glucose Challenge Test For this test, you will drink a sugary beverage and have your blood glucose level checked an hour later. This test can be done at any time of the day. If the results are above normal, you may need to have an oral glucose tolerance test. Oral Glucose Tolerance Test You will need to fast for at least 8 hours before the test. Fasting means having nothing to eat or drink except water. Your doctor will give you other instructions to follow before the test. Your fasting blood glucose level will be checked before the test begins. Then you will drink a sugary beverage. Your blood glucose levels will be checked 1 hour, 2 hours, and possibly 3 hours later. Your doctor will use your test results to find out whether you have gestational diabetes.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to Rett syndrome in laboratories at the NIH, and also support additional Rett syndrome research through grants to major medical institutions across the country. The discovery of the Rett syndrome gene in 1999 provides a basis for further genetic studies. Understanding the cause of this disorder is necessary for developing new therapies to manage specific symptoms, as well as for providing better methods of diagnosis.
How is dominant dystrophic epidermolysis bullosa inherited? Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. About 70 percent of individuals with DDEB have inherited a COL7A1 mutation from an affected parent. The remaining 30 percent have the condition as a result of a new (de novo) mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family. Regardless of whether an individual with an autosomal dominant condition has inherited the mutation or has a new mutation, each child of the affected individual has a 50% (1 in 2) chance of also having the condition, and a 50% chance of not having the condition.
Caffey disease has been estimated to occur in approximately 3 per 1,000 infants worldwide. A few hundred cases have been described in the medical literature. Researchers believe this condition is probably underdiagnosed because it usually goes away by itself in early childhood.
Exposure-based treatment has been used for many years to treat specific phobias. The person gradually encounters the object or situation that is feared, perhaps at first only through pictures or tapes, then later face-to-face. Sometimes the therapist will accompany the person to a feared situation to provide support and guidance. Exposure exercises are undertaken once the patient decides he is ready for it and with his cooperation. To be effective, therapy must be directed at the persons specific anxieties and must be tailored to his or her needs. A typical side effect is temporary discomfort involved with thinking about confronting feared situations.
Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma). The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.
Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type 1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). These two genes are involved in the release (secretion) of bile, a fluid produced by the liver that helps digest fats. The ATP8B1 gene provides instructions for making a protein that helps to control the distribution of certain fats, called lipids, in the membranes of liver cells. This function likely plays a role in maintaining an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. Although the mechanism is unclear, mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells. The imbalance of bile acids leads to the signs and symptoms of BRIC1. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. Mutations in the ABCB11 gene result in a reduction of BSEP function. This reduction leads to a decrease of bile salt secretion, which causes the features of BRIC2. The factors that trigger episodes of BRIC are unknown. Some people with BRIC do not have a mutation in the ATP8B1 or ABCB11 gene. In these individuals, the cause of the condition is unknown.
What are the signs and symptoms of gangliocytomas? Signs and symptoms caused by the presence of a gangliocytoma can vary depending on the tumor's location. Seizures are the most common symptom. Other symptoms may include increased brain pressure, endocrine disorders, and focal symptoms. Gangliocytomas can also be asymptomatic (cause no symptoms) and may be diagnosed incidentally on imaging studies.
These resources address the diagnosis or management of bradyopsia: - Children's Hospital of Pittsburgh: Electroretinogram - Genetic Testing Registry: Prolonged electroretinal response suppression - MedlinePlus Encyclopedia: Electroretinography - Prevent Blindness: Living Well with Low Vision 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
These resources address the diagnosis or management of mucolipidosis II alpha/beta: - Gene Review: Gene Review: Mucolipidosis II - Genetic Testing Registry: I cell disease - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Kyphosis 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
Bladder cancer is typically not inherited. Most often, tumors result from genetic mutations that occur in bladder cells during a person's lifetime. These noninherited genetic changes are called somatic mutations.
How is severe combined immunodeficiency (SCID) diagnosed? A diagnosis of severe combined immunodeficiency (SCID) may be suspected if a baby shows any of the following persistent symptoms within the first year of life: Eight or more ear infections Two or more cases of pneumonia Infections that do not resolve with antibiotic treatment for two or more months Failure to gain weight or grow normally Infections that require intravenous antibiotic treatment Deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver Persistent thrush in the mouth or throat A family history of immune deficiency or infant deaths due to infections Diagnosis can be confirmed by blood tests. Blood tests show significantly lower-than-normal levels of T cells and antibodies. For further details on diagnosis see the following Web pages: The Primary Immunodeficiency Resource Center provides further details regarding diagnosis of SCID. Click on the embedded link to view the page. An article from Medscape Reference provides detailed information on the diagnosis of SCID. Click on eMedicine Journal to view the page. You may need to register to view the article, but registration is free.
Mutations in the FOXP3 gene cause some cases of IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein is essential for the production and normal function of certain immune cells called regulatory T cells. Regulatory T cells play an important role in controlling the immune system and preventing autoimmune disorders. Mutations in the FOXP3 gene lead to reduced numbers or a complete absence of regulatory T cells. Without the proper number of regulatory T cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders present in people with IPEX syndrome. About half of individuals diagnosed with IPEX syndrome do not have identified mutations in the FOXP3 gene. In these cases, the cause of the disorder is unknown.
Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate. It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person's lifetime. The inherited forms can be caused by mutations in the PLCD1 gene and generally involve the entire plate of all 20 nails. In some cases, leukonychia totalis has been associated with various other abnormalities or syndromes. Treatment may focus on the underlying cause when it is associated with another condition.
Friedreich's ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include - Difficulty walking - Muscle weakness - Speech problems - Involuntary eye movements - Scoliosis (curving of the spine to one side) - Heart palpitations, from the heart disease which can happen along with Friedreich's ataxia People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy. NIH: National Institute of Neurological Disorders and Stroke
Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined significance at the following links to the MayoClinic.com Website. Multiple myeloma risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors Monoclonal gammopathy of undetermined significance risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors
These resources address the diagnosis or management of multiple lentigines syndrome: - Cincinnati Children's Hospital: Cardiomyopathies - Gene Review: Gene Review: Noonan Syndrome with Multiple Lentigines - Genetic Testing Registry: LEOPARD syndrome 1 - Genetic Testing Registry: LEOPARD syndrome 2 - Genetic Testing Registry: LEOPARD syndrome 3 - Genetic Testing Registry: Noonan syndrome with multiple lentigines - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy 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
The cause of most childhood brain tumors is unknown.
Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function is largely unknown.When eosinophils build up in the gastrointestinal tract, this begins to affect the body by causing polyps, tissue break down, inflammation, and ulcers. Eosinophilic enteropathy can occur in children or adults and is characterized by intolerance to some foods. Eosinophilic enteropathy can affect any part of the gastrointestinal tract, and is often named by the part affected: colon (colitis), esophagus (esophagitis), stomach (gastritis), or both the stomach and small intestine (gastroenteritis).
What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial pneumothorax. 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 recessive inheritance - Decreased fertility - Dysmenorrhea - Endometriosis - Multifactorial inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Knee replacement may be either total or partial/unicompartmental. In total knee replacement, as the name suggests, the entire knee joint is replaced. You will likely need a total knee replacement if you have damage to several parts of your knee. In partial/unicompartmental knee replacement, the surgeon replaces just the damaged part of the knee. You may be able to have a partial knee replacement if only one section of your knee is damaged. However, when one part is replaced, there is a chance that another part will develop arthritis, requiring further surgery.
The doctor may order other exams, including ultrasound, MRI, or CT scans, to learn more about the cause of the symptoms. But to confirm the presence of cancer, doctors must perform a biopsy. During a biopsy, the doctor uses needles to remove small tissue samples from the prostate and then looks at the samples under a microscope. If a biopsy shows that cancer is present, the doctor will report on the grade of the tumor. Doctors describe a tumor as low, medium, or high-grade cancer, based on the way it appears under the microscope.
Signs and symptoms of adult AML include fever, feeling tired, and easy bruising or bleeding. The early signs and symptoms of AML may be like those caused by the flu or other common diseases. Check with your doctor if you have any of the following: - Fever. - Shortness of breath. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - Weakness or feeling tired. - Weight loss or loss of appetite.
These resources address the diagnosis or management of 2q37 deletion syndrome: - Gene Review: Gene Review: 2q37 Microdeletion Syndrome - Genetic Testing Registry: Brachydactyly-Mental Retardation 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
Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical features, the most recent classification system is primarily based on their underlying genetic cause. Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4B). Treatment options are limited to therapies that can help relieve some of the symptoms.
Researchers have not found that eating, diet, and nutrition play a major role in causing or preventing gastritis.
These resources address the diagnosis or management of familial male-limited precocious puberty: - Boston Children's Hospital: Precocious Puberty - Genetic Testing Registry: Gonadotropin-independent familial sexual precocity 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
These resources address the diagnosis or management of Stormorken syndrome: - Genetic Testing Registry: Stormorken 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
What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs 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 OTC deficiency, 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 OTC deficiency causes neurological problems as well as eventual damage to the liver.
In rare cases, certain medicines such as antibiotics or antihistamines may cause a change in your ability to smell. If you are taking these medications and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell.
These resources address the diagnosis or management of Waardenburg syndrome: - Gene Review: Gene Review: Waardenburg Syndrome Type I - Genetic Testing Registry: Klein-Waardenberg's syndrome - Genetic Testing Registry: Waardenburg syndrome type 1 - Genetic Testing Registry: Waardenburg syndrome type 2A - Genetic Testing Registry: Waardenburg syndrome type 2B - Genetic Testing Registry: Waardenburg syndrome type 2C - Genetic Testing Registry: Waardenburg syndrome type 2D - Genetic Testing Registry: Waardenburg syndrome type 4A - MedlinePlus Encyclopedia: Waardenburg 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
The severity of the disease is related to the age of onset, with earlier onset associated with more severe forms of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. The cause of death for those who die early is often aspiration pneumonia.
Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of choline ester drugs. It is likely that the enzyme has other functions in the body, but these functions are not well understood. Studies suggest that the enzyme may be involved in the transmission of nerve signals. Some BCHE gene mutations that cause pseudocholinesterase deficiency result in an abnormal pseudocholinesterase enzyme that does not function properly. Other mutations prevent the production of the pseudocholinesterase enzyme. A lack of functional pseudocholinesterase enzyme impairs the body's ability to break down choline ester drugs efficiently, leading to abnormally prolonged drug effects. Pseudocholinesterase deficiency can also have nongenetic causes. In these cases, the condition is called acquired pseudocholinesterase deficiency; it is not inherited and cannot be passed to the next generation. Activity of the pseudocholinesterase enzyme can be impaired by kidney or liver disease, malnutrition, major burns, cancer, or certain drugs.
What causes hemolytic uremic syndrome? Hemolytic uremic syndrome often occurs after a gastrointestinal infections with E. coli bacteria (Escherichia coli 0157:H7). The condition has also been linked to other gastrointestinal infections, including shigella and salmonella, as well as infections outside of the gastrointestinal system. The condition results when the bacteria lodge in the digestive tract and produce toxins that can enter the bloodstream. The toxins travel through the bloodstream and can destroy blood cells, causing acute kidney injury.
Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem). Individuals with LCH have moderate to severe intellectual disability and delayed development. They have few or no communication skills, extremely poor muscle tone (hypotonia), problems with coordination and balance (ataxia), and difficulty sitting or standing without support. Most affected children experience recurrent seizures (epilepsy) that begin within the first months of life. Some affected individuals have nearsightedness (myopia), involuntary eye movements (nystagmus), or puffiness or swelling caused by a buildup of fluids in the body's tissues (lymphedema).
Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to infections. Mutations in the TGM1 gene are responsible for approximately 90 percent of cases of lamellar ichthyosis. The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. This enzyme is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and helps form a protective barrier between the body and its environment. TGM1 gene mutations lead to severely reduced or absent enzyme production, which prevents the formation of the cornified cell envelope. Mutations in other genes associated with lamellar ichthyosis are each responsible for only a small percentage of cases. In some people with lamellar ichthyosis, the cause of the disorder is unknown. Researchers have identified multiple chromosome regions that contain genes that may be associated with lamellar ichthyosis, although the specific genes have not been identified.
Ataxia with oculomotor apraxia is a rare condition. Type 1 is a common form of ataxia in Portugal and Japan. Type 2 is estimated to occur in 1 in 900,000 individuals worldwide.
Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occur in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism. However, most people with prothrombin thrombophilia never develop abnormal blood clots. Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. It is more common in Caucasian populations. This condition is caused by a particular mutation (written G20210A or 20210G>A) in the F2 gene. People can inherit one or two copies of the gene mutation from their parents.
Also called crab lice or "crabs," pubic lice are parasitic insects found primarily in the pubic or genital area of humans. Pubic lice infestation is found worldwide and occurs in all races, ethnic groups, and levels of society.
Is Asperger syndrome inherited? Autism spectrum disorders including Asperger syndrome sometimes "run in families," but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition will be affected. A consultation with a genetics professional is recommended for those with specific questions about genetic risks to themselves or family members.
The NIDDK Nutrition for Chronic Kidney Disease Series includes three fact sheets: - Nutrition for Early Chronic Kidney Disease in Adults - Nutrition for Advanced Chronic Kidney Disease in Adults - Nutrition for Chronic Kidney Disease in Children
Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Multiple osteochondromas may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas. Affected individuals also have short stature and cone-shaped ends of the long bones (epiphyses). The characteristic appearance of individuals with Langer-Giedion syndrome includes sparse scalp hair, a rounded nose, a long flat area between the nose and the upper lip (philtrum), and a thin upper lip. Some people with this condition have loose skin in childhood, which typically resolves with age. Affected individuals may have some intellectual disability.
How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
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.
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including - Acute lymphocytic leukemia - Acute myeloid leukemia - Chronic lymphocytic leukemia - Chronic myeloid leukemia Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute
What are the signs and symptoms of Acanthosis nigricans muscle cramps acral enlargement? The Human Phenotype Ontology provides the following list of signs and symptoms for Acanthosis nigricans muscle cramps acral enlargement. 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) Acanthosis nigricans - Autosomal recessive inheritance - Insulin resistance - Muscle cramps - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual. Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.
Age-related macular degeneration usually does not have a clear-cut pattern of inheritance, although the condition appears to run in families in some cases. An estimated 15 to 20 percent of people with age-related macular degeneration have at least one first-degree relative (such as a sibling) with the condition.
Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.
These resources address the diagnosis or management of arginase deficiency: - Baby's First Test - Gene Review: Gene Review: Arginase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Arginase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality 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
Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.
How is postural orthostatic tachycardia syndrome treated? Because postural orthostatic tachycardia syndrome (POTS) is thought to have a variety of causes, there is no single treatment that is effective for all people with the condition. In general, management of POTS aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition. In some affected people, simple life style interventions such as adding extra salt to the diet, ensuring adequate fluid intake, participating in a specialized exercise program, and avoiding factors that exacerbate the condition appear to improve symptoms. Certain medications have also been used to treat POTS with some success.
Familial pemphigus vulgaris refers to a cluster of pemphigus vulgaris within a family. Pemphigus vulgaris is a rare autoimmune condition that is characterized by blisters and sores on the skin and mucus membranes. Although the exact cause of familial pemphigus vulgaris is unknown, autoimmune conditions generally occur when the body's immune system mistakenly attacks healthy tissue (in this case, the skin and mucus membranes). Most cases of pemphigus vulgaris occur sporadically in people with no family history of the condition; however, rare reports exist of "familial" cases which affect more than one member of a single family. In these cases, the underlying genetic cause is unknown, although an association between pemphigus vulgaris and certain HLA antigens has been identified. Treatment generally includes medications and other strategies to decrease blister formation, prevent infections and promote healing.
Langerhans cell histiocytosis is usually not inherited and typically occurs in people with no history of the disorder in their family. A few families with multiple cases of Langerhans cell histiocytosis have been identified, but the inheritance pattern is unknown.
How might mitochondrial complex II deficiency be treated? Treatment options for complex II deficiency may be similar to those for other mitochondrial disorders in general.[8677] The United Mitochondrial Disease Foundation (UMDF) provides detailed information on treatment through their Web site at: http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635 We strongly recommend that you discuss this information with a healthcare provider.
Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth). HFM is the second most common facial birth defect after clefts. The cause of HFM in most cases is unknown. It usually occurs in people with no family history of HFM, but it is inherited in some cases. Treatment depends on age and the specific features and symptoms in each person.
How is multiple familial trichoepithelioma diagnosed? Diagnosis of multiple familial trichoepithelioma is made based upon the clinical symptoms in the patient, the patients family history, and the appearance of the trichoepithelioma cells under a microscope (histology). Multiple familial trichoepithelioma must be distinguished from basal cell carcinoma (cancerous tumor) and other rare genetic syndromes such as Cowden syndrome.
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.
Is genetic testing available for congenital bilateral absence of the vas deferens (CBAVD)? GeneTests lists the names of laboratories that are performing genetic testing for CBAVD. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we have provided a list of online resources that can assist you in locating a genetics professional near you.
People who have diseases or conditions that affect the muscles, nerves, bones, or tissues that support breathing are at risk for respiratory failure. People who have lung diseases or conditions also are at risk for respiratory failure. For more information, go to "What Causes Respiratory Failure?"
Treatment of essential thrombocythemia in patients younger than 60 years who have no signs or symptoms and an acceptable platelet count is usually watchful waiting. Treatment of other patients may include the following: - Chemotherapy. - Anagrelide therapy. - Biologic therapy using interferon alfa or pegylated interferon alpha. - Platelet apheresis. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with essential thrombocythemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene.
These resources address the diagnosis or management of Hermansky-Pudlak syndrome: - Gene Review: Gene Review: Hermansky-Pudlak Syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome 1 - MedlinePlus Encyclopedia: Albinism - MedlinePlus Encyclopedia: Colitis 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
How is lipodermatosclerosis diagnosed? Lipodermatosclerosis is usually diagnosed based on the presence of characteristic signs and symptoms. A skin biopsy and/or blood tests are usually not required to confirm a diagnosis but may be performed in rare cases. Ultrasound scans and/or magnetic resonance imaging (MRI) may be used to obtain more information regarding the severity of the condition and to determine the best treatment approach.
Light therapy, also called phototherapy, uses ultraviolet light to treat skin lesions. Laser therapy delivers intense, focused doses of light to specific areas of the skin to clear lesions without harming surrounding tissues.

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