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Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, the ACAT1 enzyme helps process isoleucine, which is a building block of many proteins, and ketones, which are produced during the breakdown of fats. Mutations in the ACAT1 gene reduce or eliminate the activity of the ACAT1 enzyme. A shortage of this enzyme prevents the body from processing proteins and fats properly. As a result, related compounds can build up to toxic levels in the blood. These substances cause the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs, particularly in the nervous system.
X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. This condition affects men much more often than women. Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. Parkinsonism is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling gait that can cause recurrent falls. Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, and later spreads to other parts of the body. The continuous muscle cramping and spasms can be disabling. Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking. The signs and symptoms of X-linked dystonia-parkinsonism vary widely. In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia. More severe cases involve dystonia that rapidly becomes generalized. These individuals become dependent on others for care within a few years after signs and symptoms appear, and they may die prematurely from breathing difficulties, infections (such as aspiration pneumonia), or other complications.
Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people. Most children with Allan-Herndon-Dudley syndrome have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they usually develop joint deformities called contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and become wheelchair-bound by adulthood.
Thoracic outlet syndrome (TOS) causes pain in the shoulder, arm, and neck. It happens when the nerves or blood vessels just below your neck are compressed, or squeezed. The compression can happen between the muscles of your neck and shoulder or between the first rib and collarbone. You may feel burning, tingling, and numbness along your arm, hand, and fingers. If a nerve is compressed, you may also feel weakness in your hand. If a vein is compressed, your hand might be sensitive to cold, or turn pale or bluish. Your arm might swell and tire easily. TOS is more common in women. It usually starts between 20 and 50 years of age. Doctors do nerve and imaging studies to diagnose it. There are many causes of TOS, including - Injury - Anatomical defects - Tumors that press on nerves - Poor posture that causes nerve compression - Pregnancy - Repetitive arm and shoulder movements and activity, such as from playing certain sports Treatment depends on what caused your TOS. Medicines, physical therapy, and relaxation might help. Surgery may also be an option. Most people recover. NIH: National Institute of Neurological Disorders and Stroke
Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with PXE may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss. Mineralization of the blood vessels that carry blood from the heart to the rest of the body (arteries) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that is characterized by cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur.
After an incubation of 9-16 days, infection with Hendra virus can lead to respiratory illness with severe flu-like signs and symptoms. In some cases, illness may progress to encephalitis. Although infection with Hendra virus is rare, the case fatality is high: 4/7 (57%).
What are the signs and symptoms of Aganglionosis, total intestinal? The Human Phenotype Ontology provides the following list of signs and symptoms for Aganglionosis, total intestinal. 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 - Total intestinal aganglionosis - 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.
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 symptoms of the condition. Males with two CATSPER1 gene mutations in each cell have CATSPER1-related nonsyndromic male infertility. Females with two CATSPER1 gene mutations in each cell have no symptoms because the mutations only affect sperm function, and women do not produce sperm.
Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme that cannot function. This enzyme deficiency allows lysine, hydroxylysine and tryptophan and their intermediate breakdown products to build up to abnormal levels, especially at times when the body is under stress. The intermediate breakdown products resulting from incomplete processing of lysine, hydroxylysine, and tryptophan can damage the brain, particularly the basal ganglia, causing the signs and symptoms of glutaric acidemia type I.
What causes intrahepatic cholestasis of pregnancy? Largely, the cause of intrahepatic cholestasis of pregnancy (ICP) is unknown. ICP is present in approximately 1% of pregnancies in the United States. It is thought to be caused by a mixture of genetic, hormonal, and environmental factors. Risk factors include: A personal or family history of cholestasis of pregnancy A history of liver disease A multiple gestation pregnancy (twins, triplets, etc) Approximately 15% of women with ICP have a mutation in either the ABCB11 orABCB4 gene. Mutations within these genes increase the likelihood that a woman will develop ICP. Mutations within the ABCB11 and ABCB4 gene(s) are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations within the gene. A person with a mutation in either theABCB11 or ABCB4 gene has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Its not always obvious that someone drinks too much. For older adults, clues to a possible alcohol problem include memory loss, depression, anxiety, poor appetite, unexplained bruises, falls, sleeping problems, and inattention to cleanliness or appearance. Answering "yes" to at least one of the following questions is also a sign of a possible drinking problem: - Have you ever felt you should cut down on your drinking? - Have people annoyed you by criticizing your drinking? - Have you ever felt bad or guilty about your drinking? - Have you ever had a drink first thing in the morning to steady your nerves or get rid of a hangover? Have you ever felt you should cut down on your drinking? Have people annoyed you by criticizing your drinking? Have you ever felt bad or guilty about your drinking? Have you ever had a drink first thing in the morning to steady your nerves or get rid of a hangover? If you answered yes to any of these questions, talk with your health care provider. Also seek help if you feel you are having drinking-related problems with your health, relationships, or work.
Chickenpox is an infection caused by the varicella-zoster virus. Most cases are in children under age 15, but older children and adults can get it. It spreads very easily from one person to another. The classic symptom of chickenpox is an uncomfortable, itchy rash. The rash turns into fluid-filled blisters and eventually into scabs. It usually shows up on the face, chest, and back and then spreads to the rest of the body. Other symptoms include - Fever - Headache - Tiredness - Loss of appetite Chickenpox is usually mild and lasts 5 to 10 days. Calamine lotions and oatmeal baths can help with itching. Acetaminophen can treat the fever. Do not use aspirin for chickenpox; that combination can cause Reye syndrome. Chickenpox can sometimes cause serious problems. Adults, babies, teenagers, pregnant women, and those with weak immune systems tend to get sicker from it. They may need to take antiviral medicines. Once you catch chickenpox, the virus usually stays in your body. You probably will not get chickenpox again, but the virus can cause shingles in adults. A chickenpox vaccine can help prevent most cases of chickenpox, or make it less severe if you do get it. Centers for Disease Control and Prevention
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it is in the lung only or has spread to other places in the body). - The type of lung cancer. - Whether the cancer has mutations (changes) in certain genes, such as the epidermal growth factor receptor (EGFR) gene or the anaplastic lymphoma kinase (ALK) gene. - Whether there are signs and symptoms such as coughing or trouble breathing. - The patients general health.
Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western countries and are more common in developing countries. One to six percent of previously affected women will have a recurrent hydatidiform mole.
Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. If untreated, compression of the cranial nerves can be disabling. The condition is caused by mutations in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner. Treatment may include surgery to reduce compression of cranial nerves and recontouring of the facial bones.
What are the symptoms of adenocarcinoma of the appendix? The most common clinical symptom is acute appendicitis. Other symptoms include a palpable abdominal mass, ascites (fluid buildup), peritonitis (inflammation of the membrane lining the abdominal cavity) due to a perforated appendix, and non-specific gastrointestinal or genitourinary symptoms such as bloating, vague abdominal pain, and tenderness.
The goal of treating diabetic neuropathy is to prevent further tissue damage and relieve discomfort. The first step is to bring blood sugar levels under control by diet and medication. Another important part of treatment involves taking special care of the feet by wearing proper fitting shoes and routinely checking the feet for cuts and infections. Analgesics, low doses of antidepressants, and some anticonvulsant medications may be prescribed for relief of pain, burning, or tingling. Some individuals find that walking regularly, taking warm baths, or using elastic stockings may help relieve leg pain.
Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III gamma grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems in people with mucolipidosis III gamma also cause pain, which becomes more severe over time. People with mucolipidosis III gamma often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or "coarse" as they get older. A small percentage of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III gamma generally survive into adulthood, but they may have a shortened lifespan.
Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella); a shortened space between the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. Seizures and wasting away (atrophy) of muscles used for movement (skeletal muscles) may also occur in this disorder. About 20 percent of individuals with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), heart abnormalities, or malformations of the anus. Certain combinations of the features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan syndrome. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome.
What are the signs and symptoms of Fetal cystic hygroma? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal cystic hygroma. 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 - Fetal cystic hygroma - Hydrops fetalis - Stillbirth - 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.
Cryptosporidiosis (crypto) is an illness caused by a parasite. The parasite lives in soil, food and water. It may also be on surfaces that have been contaminated with waste. You can become infected if you swallow the parasite. The most common symptom of crypto is watery diarrhea. Other symptoms include - Dehydration - Weight loss - Stomach cramps or pain - Fever - Nausea - Vomiting Most people with crypto get better with no treatment, but crypto can cause serious problems in people with weak immune systems such as in people with HIV/AIDS. To reduce your risk of crypto, wash your hands often, avoid water that may be infected, and wash or peel fresh fruits and vegetables before eating. Centers for Disease Control and Prevention
Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.
The exact prevalence of this disorder is unknown, although it likely affects about 1 per million people worldwide. The condition appears to be more common in Costa Rica and Kuwait than in other populations.
Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected. About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes.
Summary : A bone graft transplants bone tissue. Surgeons use bone grafts to repair and rebuild diseased bones in your hips, knees, spine, and sometimes other bones and joints. Grafts can also repair bone loss caused by some types of fractures or cancers. Once your body accepts the bone graft, it provides a framework for growth of new, living bone. If the transplanted bone comes from another person, it is called an allograft. Most allograft bone comes from donors who have died. Tissue banks screen these donors and disinfect and test the donated bone to make sure it is safe to use. If the transplanted bone comes from another part of your own body, it is called an autograft. Autograft bone often comes from your ribs, hips or a leg.
Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. This progressive bony fusion is called ankylosis. The earliest symptoms of ankylosing spondylitis result from inflammation of the joints between the pelvic bones (the ilia) and the base of the spine (the sacrum). These joints are called sacroiliac joints, and inflammation of these joints is known as sacroiliitis. The inflammation gradually spreads to the joints between the vertebrae, causing a condition called spondylitis. Ankylosing spondylitis can involve other joints as well, including the shoulders, hips, and, less often, the knees. As the disease progresses, it can affect the joints between the spine and ribs, restricting movement of the chest and making it difficult to breathe deeply. People with advanced disease are also more prone to fractures of the vertebrae. Ankylosing spondylitis affects the eyes in up to 40 percent of cases, leading to episodes of eye inflammation called acute iritis. Acute iritis causes eye pain and increased sensitivity to light (photophobia). Rarely, ankylosing spondylitis can also cause serious complications involving the heart, lungs, and nervous system.
Blood vessels damaged from diabetic retinopathy can cause vision loss in two ways. Fragile, abnormal blood vessels can develop and leak blood into the center of the eye, blurring vision. This is proliferative retinopathy and is the fourth and most advanced stage of the disease. Fluid can leak into the center of the macula, the part of the eye where sharp, straight-ahead vision occurs. The fluid makes the macula swell, blurring vision. This condition is called macular edema. It can occur at any stage of diabetic retinopathy, although it is more likely to occur as the disease progresses. About half of the people with proliferative retinopathy also have macular edema.
Endometriosis is a problem affecting a woman's uterus - the place where a baby grows when she's pregnant. Endometriosis is when the kind of tissue that normally lines the uterus grows somewhere else. It can grow on the ovaries, behind the uterus or on the bowels or bladder. Rarely, it grows in other parts of the body. This "misplaced" tissue can cause pain, infertility, and very heavy periods. The pain is usually in the abdomen, lower back or pelvic areas. Some women have no symptoms at all. Having trouble getting pregnant may be the first sign. The cause of endometriosis is not known. Pain medicines and hormones often help. Severe cases may need surgery. There are also treatments to improve fertility in women with endometriosis.
Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 years of exposure of higher levels of silica. Swelling of the lungs and other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica. The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.
A Common Problem With Aging Urinary tract infections (UTIs) are a common bladder problem, especially as people age. UTIs are the second most common type of infection in the body. Each year, UTIs cause more than 8 million visits to health care providers. UTIs can happen anywhere in the urinary system (which includes the kidneys, bladder, and urethra). But UTIs are most common in the bladder. A UTI in the bladder is called cystitis. Infections in the bladder can spread to the kidneys. A UTI in the kidneys is called pyelonephritis. Sometimes, a UTI can also develop in the urethra, but this is less common. A UTI in the urethra is called urethritis. Some UTIs Lead to Severe Problems Most UTIs are not serious. But some UTIs, such as kidney infections, can lead to severe problems. Bacteria from a kidney infection may spread to the bloodstream, causing a life-threatening condition called septicemia. When kidney infections occur frequently or last a long time, they may cause permanent damage to the kidneys, including kidney scars, poor kidney function, and high blood pressure.
Most UTIs are caused by bacteria that live in the bowel. The bacterium Escherichia coli (E. coli) causes the vast majority of UTIs. Microbes called Chlamydia and Mycoplasma can infect the urethra and reproductive system but not the bladder. Chlamydia and Mycoplasma infections may be sexually transmitted and require treatment of sexual partners. The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way valves to prevent urine from backing up toward the kidneys, and urination washes microbes out of the body. In men, the prostate gland produces secretions that slow bacterial growth. In both sexes, immune defenses also prevent infection. But despite these safeguards, infections still occur. Certain bacteria have a strong ability to attach themselves to the lining of the urinary tract.
Summary : So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you.
What causes osteogenesis imperfecta? Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes. OI is most commonly due to a mutation in either the COL1A1 or COL1A2 gene, causing OI types I through IV. These genes play a role in how the body makes collagen, a material that helps to strengthen the bones. The type and severity of OI depends on the effect that the specific mutation has on normal collagen production. OI caused by mutations in these genes is inherited in an autosomal dominant manner. In about 10% of people with OI, the COL1A1 and COL1A2 genes are normal and the condition is due to mutations in other genes; many of these people have an autosomal recessive form of OI. Other genes in which mutations may be responsible for less common types of OI, some of which have been reported in only one individual or family, include: IFITM5 (type V) SERPINF1 (type VI) CRTAP (type VII) LEPRE1, also called P3H1 (type VIII) PPIB (type IX) SERPINH1 (type X) FKBP10 (type XI) SP7 (type XII) BMP1 (type XIII) TMEM38B (type XIV) WNT1 (type XV) SPARC (type XVII)
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 two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, which is composed of wastes and extra fluid. Children produce less urine than adultsthe amount they produce depends on their age. The urine flows from the kidneys to the bladder through the two ureters, one on each side of the bladder. The bladder stores urine. The muscles of the bladder wall remain relaxed while the bladder fills with urine. As the bladder fills to capacity, signals sent to the brain tell a person to find a toilet soon. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. The kidneys, ureters, bladder, and urethra are parts of the urinary tract. More information is provided in the NIDDK health topics, the kidneys and the urinary tract.
These resources address the diagnosis or management of Pfeiffer syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Pfeiffer syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Webbing of fingers or toes 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 Dandy-Walker malformation: - Genetic Testing Registry: Dandy-Walker syndrome - National Hydrocephalus Foundation: Treatment of Hydrocephalus 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 Rett syndrome? Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain. Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders.
Polio is an infectious disease caused by a virus. The virus lives in an infected person's throat and intestines. It is most often spread by contact with the stool of an infected person. You can also get it from droplets if an infected person sneezes or coughs. It can contaminate food and water if people do not wash their hands. Most people have no symptoms. If you have symptoms, they may include fever, fatigue, nausea, headache, flu-like symptoms, stiff neck and back, and pain in the limbs. A few people will become paralyzed. There is no treatment to reverse the paralysis of polio. Some people who've had polio develop post-polio syndrome (PPS) years later. Symptoms include tiredness, new muscle weakness, and muscle and joint pain. There is no way to prevent or cure PPS. The polio vaccine has wiped out polio in the United States and most other countries. Centers for Disease Control and Prevention
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.
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.
Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. Typically, an individual is affected because they inherited a mutated copy of the gene from each parent. Individuals with one mutated copy of the gene (such as an unaffected parent of an affected individual) are referred to as carriers; carriers typically do not have any signs or symptoms of the condition. 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 a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Mutations in two genes, G6PC and SLC37A4, cause GSDI. G6PC gene mutations cause GSDIa, and SLC37A4 gene mutations cause GSDIb. The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body. Mutations in the G6PC and SLC37A4 genes prevent the effective breakdown of glucose 6-phosphate. Glucose 6-phosphate that is not broken down to glucose is converted to glycogen and fat so it can be stored within cells. Too much glycogen and fat stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI.
Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). In almost all affected people, the deletion includes the tip of chromosome 11. Larger deletions tend to cause more severe signs and symptoms than smaller deletions. The features of Jacobsen syndrome are likely related to the loss of multiple genes on chromosome 11. Depending on its size, the deleted region can contain from about 170 to more than 340 genes. Many of these genes have not been well characterized. However, genes in this region appear to be critical for the normal development of many parts of the body, including the brain, facial features, and heart. Only a few genes have been studied as possible contributors to the specific features of Jacobsen syndrome; researchers are working to determine which additional genes may be associated with this condition.
The prevalence of sensorineural deafness and male infertility is unknown.
These resources address the diagnosis or management of idiopathic pulmonary fibrosis: - Gene Review: Gene Review: Pulmonary Fibrosis, Familial - Genetic Testing Registry: Idiopathic fibrosing alveolitis, chronic form 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 Klinefelter syndrome: - Genetic Testing Registry: Klinefelter's syndrome, XXY - MedlinePlus Encyclopedia: Klinefelter Syndrome - MedlinePlus Encyclopedia: Testicular Failure 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
Pol III-related leukodystrophy is caused by mutations in the POLR3A or POLR3B gene. These genes provide instructions for making the two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA polymerase III enzyme attaches (binds) to DNA and synthesizes RNA in accordance with the instructions carried by the DNA, a process called transcription. RNA polymerase III helps synthesize several forms of RNA, including ribosomal RNA (rRNA) and transfer RNA (tRNA). Molecules of rRNA and tRNA assemble protein building blocks (amino acids) into working proteins; this process is essential for the normal functioning and survival of cells. Researchers suggest that mutations in the POLR3A or POLR3B gene may impair the ability of subunits of the RNA polymerase III enzyme to assemble properly or result in an RNA polymerase III with impaired ability to bind to DNA. Reduced function of the RNA polymerase III molecule likely affects development and function of many parts of the body, including the nervous system and the teeth, but the relationship between POLR3A and POLR3B gene mutations and the specific signs and symptoms of Pol III-related leukodystrophy is unknown.
Endometrial stromal sarcoma is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the uterus. Endometrial stromal sarcoma, specifically, develops in the supporting connective tissue (stroma) of the uterus. Signs and symptoms of the condition include abnormal uterine bleeding (i.e. bleeding that is not part of menstrual periods or bleeding after menopause); abdominal pain and/or distension; and frequent urination. The exact underlying cause of endometrial stromal sarcoma is currently unknown. Most cases occur sporadically in people with no family history of the condition. Treatment varies based on the severity of the condition but may include surgery, radiation therapy, chemotherapy, and/or hormone therapy.
How might Wilson disease be treated? There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. If treatment is not effective or if liver failure develops, a liver transplant may be necessary. For more specific information on the treatment and management of Wilson disease, please visit the National Institute of Diabetes and Digestive and Kidney Disease's (NIDDK) website and/or GeneReviews. Click the link to view these resources.
Clinical diagnosis could be difficult due to similarities between AVHF, Crimean-Congo Hemorrhagic fever (CCHF), and Rift Valley fever (RVF), which occur in similar geographic areas. Laboratory diagnosis of AHF can be made in the early stage of the illness by molecular detection by PCR or virus isolation from blood. Later, serologic testing using enzyme-linked immunosorbent serologic assay (ELISA) can be performed.
The inheritance pattern of Graves disease is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Graves disease or another autoimmune disorder likely increases a person's risk of developing the condition.
Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed.
Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.
Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of the face), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.
How might Bell's palsy be treated?
An ear infection called otitis media can cause balance problems. Otitis media is most common in children, but adults can get it, too. You can help prevent otitis media by washing your hands frequently. Also, talk to your doctor about getting a yearly flu shot to stave off flu-related ear infections. If you do get an ear infection, see a doctor immediately before it becomes more serious. Learn more about otitis media and other ear infections. (Centers for Disease Control and Prevention)
Chanarin-Dorfman syndrome is a rare condition; its incidence is unknown.
CHILD syndrome is a rare disorder; it has been reported in about 60 people worldwide. This condition occurs almost exclusively in females.
Most people tested for the 16p11.2 deletion have come to medical attention as a result of developmental delay or autistic behaviors. Other individuals with the 16p11.2 deletion have no associated health or behavioral problems, and so the deletion may never be detected. For this reason, the prevalence of this deletion in the general population is difficult to determine but has been estimated at approximately 3 in 10,000.
RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). It is thought to help stop a pathway called BRAF signaling, which is involved in directing cell growth. The IGFBP7 gene mutation that causes RAMSVPS results in an abnormally short IGFBP7 protein that does not function properly. Without normally functioning IGFBP7 protein to control BRAF signaling, this signaling is increased. It is unknown how this increase is related to the specific blood vessel abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences in normal levels of IGFBP7 protein in various parts of the body or the presence of other proteins with a similar function in different tissues may account for the specific signs and symptoms of this disorder.
Similar to other the TSEs, kuru had a long incubation period; it was years or even decades before an infected person showed symptoms. Because kuru mainly affected the cerebellum, which is responsible for coordination, the usual first symptoms were an unsteady gait, tremors, and slurred speech. (Kuru is the Fore word for shiver.) Unlike most of the other TSEs, dementia was either minimal or absent. Mood changes were often present. Eventually, individuals became unable to stand or eat, and they died in a comatose state from 6 to 12 months after the first appearance of symptoms.
These resources address the diagnosis or management of myofibrillar myopathy: - Gene Review: Gene Review: Myofibrillar Myopathy - Genetic Testing Registry: Alpha-B crystallinopathy - Genetic Testing Registry: Myofibrillar myopathy - Genetic Testing Registry: Myofibrillar myopathy 1 - Genetic Testing Registry: Myofibrillar myopathy, BAG3-related - Genetic Testing Registry: Myofibrillar myopathy, ZASP-related - Genetic Testing Registry: Myofibrillar myopathy, filamin C-related - Genetic Testing Registry: Myotilinopathy 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
Diverticula are small pouches that bulge outward through the colon, or large intestine. If you have these pouches, you have a condition called diverticulosis. It becomes more common as people age. About half of all people over age 60 have it. Doctors believe the main cause is a low-fiber diet. Most people with diverticulosis don't have symptoms. Sometimes it causes mild cramps, bloating or constipation. Diverticulosis is often found through tests ordered for something else. For example, it is often found during a colonoscopy to screen for cancer. A high-fiber diet and mild pain reliever will often relieve symptoms. If the pouches become inflamed or infected, you have a condition called diverticulitis. The most common symptom is abdominal pain, usually on the left side. You may also have fever, nausea, vomiting, chills, cramping, and constipation. In serious cases, diverticulitis can lead to bleeding, tears, or blockages. Your doctor will do a physical exam and imaging tests to diagnose it. Treatment may include antibiotics, pain relievers, and a liquid diet. A serious case may require a hospital stay or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
How is triple A syndrome inherited? Triple A syndrome 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 and are referred to as "carriers" but they typically do not show signs and symptoms of the condition. When 2 carriers for the same autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% chance that the child will not have the condition and not be a carrier for the condition.
22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.
Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of several genes. This condition is inherited in an autosomal dominant manner; although most cases do not have a family history of this condition.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Several NINDS-funded investigators are studying blood vessel damage and cerebral blood flow as it relates to stroke. The NINDS also funds research on vascular cognitive impairment, which is an important contributor to aging-related cognitive decline and is the result of impaired performance of the brain's small blood vessels. Additionally, the NINDS and other institutes of the National Institutes of Health (NIH) conduct research relating to vasculitis syndromes in laboratories at the NIH and also support vasculitis research through grants to major medical institutions across the country. The NINDS supports The Vasculitis Clinical Research Consortium (VCRC), a network of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research and improving the care of individuals with various vasculitis disorders.
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 follow an autosomal dominant pattern of inheritance.
Cheilitis glandularis is a rare inflammatory disorder of the lip. It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and, occasionally, infection. Cheilitis glandularis is more common in adult males, although cases have been described in women and children. In Caucasians, it is associated with a relatively high incidence of squamous cell carcinoma of the lip. Although there may be a genetic susceptibility, no definitive cause has been established. Treatment may include surgical excision by vermilionectomy (sometimes called a lip shave), but treatment varies for each individual.
Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat. HNSCC is classified by its location: it can occur in the mouth (oral cavity), the middle part of the throat near the mouth (oropharynx), the space behind the nose (nasal cavity and paranasal sinuses), the upper part of the throat near the nasal cavity (nasopharynx), the voicebox (larynx), or the lower part of the throat near the larynx (hypopharynx). Depending on the location, the cancer can cause abnormal patches or open sores (ulcers) in the mouth and throat, unusual bleeding or pain in the mouth, sinus congestion that does not clear, sore throat, earache, pain when swallowing or difficulty swallowing, a hoarse voice, difficulty breathing, or enlarged lymph nodes. HNSCC can spread (metastasize) to other parts of the body, such as the lymph nodes or lungs. If it spreads, the cancer has a worse prognosis and can be fatal. About half of affected individuals survive more than five years after diagnosis.
Whipple disease is a rare bacterial infection that primarily affects the small intestine. The infection may spread to any organ in the body; however, it more commonly affects the - joints - central nervous system, which includes the brain, the spinal cord, and nerves located throughout the body - heart - eyes - lungs Left untreated, Whipple disease gets worse and is usually life threatening.
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 forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.
Agricultural workers and others working with animals should use insect repellent on exposed skin and clothing. Insect repellants containing DEET (N, N-diethyl-m-toluamide) are the most effective in warding off ticks. Wearing gloves and other protective clothing is recommended. Individuals should also avoid contact with the blood and body fluids of livestock or humans who show symptoms of infection. It is important for healthcare workers to use proper infection control precautions to prevent occupational exposure. An inactivated, mouse-brain derived vaccine against CCHF has been developed and is used on a small scale in Eastern Europe. However, there is no safe and effective vaccine currently available for human use. Further research is needed to develop these potential vaccines as well as determine the efficacy of different treatment options including ribavirin and other antiviral drugs.
Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AT. There is currently no cure for AT, but sometimes hair regrowth occurs on it's own, even after many years.
PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRB-associated chronic eosinophilic leukemia. Some people with this condition have an increased number of other types of white blood cells, such as neutrophils or mast cells, in addition to eosinophils. People with this condition can have an enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected individuals develop skin rashes, likely as a result of an abnormal immune response due to the increased number of eosinophils.
These resources address the diagnosis or management of HMERF: - Gene Review: Gene Review: Hereditary Myopathy with Early Respiratory Failure (HMERF) - Genetic Testing Registry: Hereditary myopathy with early respiratory failure - National Heart, Lung, and Blood Institute: How Is Respiratory Failure Diagnosed? - National Heart, Lung, and Blood Institute: How Is Respiratory Failure Treated? 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 National Institute of Neurological Disorders and Stroke (NINDS) supports research related to GAN through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure inherited neurological disorders such as GAN.
How might adolescent idiopathic scoliosis be treated? Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-adolescent growth spurt). The potential for growth is evaluated by taking into consideration the patient's age, the status of whether females have had their first menstrual period, and radiographic parameters (x-ray studies). Detailed information about these treatment options can be accessed through the Scoliosis Research Society.
Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition? To find out your chances of having hereditary cerebral hemorrhage with amyloidosis, you may want to speak with a genetics professional. A genetics professionl can review your medical and family history in order to provide you with your specific risks. To learn more about genetic consultations, click here.
Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms.
Antecubital pterygium is characterized by and antecubital webbing, posterior subluxation (dislocation) of radial head, maldevelopment of radioulnar joint, and limited elbow extension with unimpeded elbow flexion. Most reported cases come from the island of Mauritius or nearby islands. It is inherited in an autosomal dominant fashion. This condition is sometimes found as a symptom of nail-patella syndrome.
There are several types of surgery that can restore blood flow (revascularization) to the brain by opening narrowed blood vessels or by bypassing blocked arteries. Children usually respond better to revascularization surgery than adults, but the majority of individuals have no further strokes or related problems after surgery.
Embryonal carcinoma is a type of testicular cancer, which is cancer that starts in the testicles, the male reproductive glands located in the scrotum. It most often develops in young and middle-aged men. It tends to grow rapidly and spread outside the testicle. Embryonal carcinomas are classified as nonseminoma germ cell tumors. Most testicular cancers grow from germ cells, the cells that make sperm. Germ cell tumors are broadly divided into seminomas and nonseminomas because each type has a different prognosis and treatment regimen. Nonseminomas, which are more common, tend to grow more quickly than seminomas. Nonseminoma tumors are often made up of more than one type of cell, and are identified according to the different cell types.
The prevalence of childhood myocerebrohepatopathy spectrum is unknown.
Occipital neuralgia is not a life-threatening condition. Many individuals will improve with therapy involving heat, rest, anti-inflammatory medications, and muscle relaxants. Recovery is usually complete after the bout of pain has ended and the nerve damage repaired or lessened.
Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.
These resources address the diagnosis or management of Simpson-Golabi-Behmel syndrome: - Gene Review: Gene Review: Simpson-Golabi-Behmel Syndrome Type 1 - Genetic Testing Registry: Simpson-Golabi-Behmel syndrome - MedlinePlus Encyclopedia: Diastasis Recti - MedlinePlus Encyclopedia: Macrosomia 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
Leber congenital amaurosis can result from mutations in at least 14 genes, all of which are necessary for normal vision. These genes play a variety of roles in the development and function of the retina. For example, some of the genes associated with this disorder are necessary for the normal development of light-detecting cells called photoreceptors. Other genes are involved in phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. Still other genes play a role in the function of cilia, which are microscopic finger-like projections that stick out from the surface of many types of cells. Cilia are necessary for the perception of several types of sensory input, including vision. Mutations in any of the genes associated with Leber congenital amaurosis disrupt the development and function of the retina, resulting in early vision loss. Mutations in the CEP290, CRB1, GUCY2D, and RPE65 genes are the most common causes of the disorder, while mutations in the other genes generally account for a smaller percentage of cases. In about 30 percent of all people with Leber congenital amaurosis, the cause of the disorder is unknown.
Is genetic testing available for Hallermann-Streiff syndrome? While we are not aware of clinical genetic testing for Hallermann-Streiff syndrome, GeneTests lists laboratories offering research genetic testing for this condition. To view information for the laboratories offering research genetic testing for Hallermann-Streiff syndrome click here. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetics professional to learn more about research testing for this condition.
These resources address the diagnosis or management of 2-methylbutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 2-methylbutyryl-CoA dehydrogenase 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
Symptoms include - jaundice, which causes a yellowing of the skin and eyes - fatigue - abdominal pain - loss of appetite - nausea - vomiting - diarrhea - low grade fever - headache However, some people do not have symptoms.
Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.
Content on this page was developed during the 2009-2010 H1N1 pandemic and has not been updated. - The H1N1 virus that caused that pandemic is now a regular human flu virus and continues to circulate seasonally worldwide. - The English language content on this website is being archived for historic and reference purposes only. General Information Information for Health Care Professionals
Having past treatment with radiation can increase the risk of osteosarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Risk factors for osteosarcoma include the following: - Past treatment with radiation therapy. - Past treatment with anticancer drugs called alkylating agents. - Having a certain change in the retinoblastoma gene. - Having certain conditions, such as the following: - Bloom syndrome. - Diamond-Blackfan anemia. - Li-Fraumeni syndrome. - Paget disease. - Hereditary retinoblastoma. - Rothmund-Thomson syndrome. - Werner syndrome.
Viral gastroenteritis is usually diagnosed based on symptoms alone. People who have symptoms that are severe or last for more than a few days may want to see a health care provider for additional tests. A health care provider may ask for a stool sample to test for rotavirus or norovirus or to rule out bacteria or parasites as the cause of the gastroenteritis. During an epidemic of viral gastroenteritis, health care providers or public health officials may test stool samples to find out which virus is responsible for the outbreak.
Common symptoms of lactose intolerance include - bloating, a feeling of fullness or swelling, in your belly - pain in your belly - diarrhea - gas - nausea You may feel symptoms 30 minutes to 2 hours after you have milk or milk products. You may have mild or severe symptoms.
What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. 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 - Chondrosarcoma - 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.
Summary : Keeping a healthy weight is crucial. If you are underweight, overweight, or obese, you may have a higher risk of certain health problems. About two thirds of adults in the U.S. are overweight or obese. Achieving a healthy weight can help you control your cholesterol, blood pressure and blood sugar. It might also help you prevent weight-related diseases, such as heart disease, diabetes, arthritis and some cancers. Eating too much or not being physically active enough will make you overweight. To maintain your weight, the calories you eat must equal the energy you burn. To lose weight, you must use more calories than you eat. A weight-control strategy might include - Choosing low-fat, low-calorie foods - Eating smaller portions - Drinking water instead of sugary drinks - Being physically active Eating extra calories within a well-balanced diet can help to add weight. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

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