Datasets:
codexist
/
medical_data

Dataset card Data Studio Files
xet
 Community
1
data
stringlengths
25
1.5k
These resources address the diagnosis or management of PRS superactivity: - Gene Review: Gene Review: Phosphoribosylpyrophosphate Synthetase Superactivity - Genetic Testing Registry: Phosphoribosylpyrophosphate synthetase superactivity - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, U...
Helicobacter pylori (H. pylori) is a type of bacteria that causes infection in the stomach. It is found in about two-thirds of the world's population. It may be spread by unclean food and water, but researchers aren't sure. It causes Peptic ulcers and can also cause stomach cancer. If you have symptoms of a peptic u...
Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressi...
These resources address the diagnosis or management of Gitelman syndrome: - Genetic Testing Registry: Familial hypokalemia-hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitati...
FIBGC is thought to be a rare disorder; about 60 affected families have been described in the medical literature. However, because brain imaging tests are needed to recognize the calcium deposits, this condition is believed to be underdiagnosed.
What are the signs and symptoms of Retinal cone dystrophy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 4. 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 Med...
Treatment begins with exercise programs and physical therapy to strengthen chest muscles, restore normal posture, and relieve compression by increasing the space of the area the nerve passes through. Doctors will often prescribe non-steroidal anti-inflammatory drugs (such as naproxen or ibuprofen) for pain. Other medic...
The incidence of hyperlysinemia is unknown.
The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can...
How do people inherit Duchenne and Becker muscular dystrophy? Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive 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 males (who have only one...
What are the signs and symptoms of Quinquaud's decalvans folliculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Quinquaud's decalvans folliculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use...
Cant syndrome results from mutations in the ABCC9 gene. This gene provides instructions for making one part (subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ABCC9 gene alter the structure of the potassium channel, which causes the channel to open wh...
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficul...
What causes a renal oncocytoma? The exact underlying cause of most renal oncocytomas is unknown. However, researchers suspect that acquired (not present at birth) changes in mitochondrial DNA may play a role in the development of some of these tumors. Renal oncocytomas sometimes occur in people with certain genetic syn...
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In male...
HSAN5 is very rare. Only a few people with the condition have been identified.
GRACILE syndrome is found almost exclusively in Finland, where it is estimated to affect 1 in 47,000 infants. At least 32 affected infants have been described in the medical literature.
Women with an increased risk of ovarian cancer may consider surgery to lessen the risk. Some women who have an increased risk of ovarian cancer may choose to have a risk-reducing oophorectomy (the removal of healthy ovaries so that cancer cannot grow in them). In high-risk women, this procedure has been shown to greatl...
Connective tissue is the material inside your body that supports many of its parts. It is the "cellular glue" that gives your tissues their shape and helps keep them strong. It also helps some of your tissues do their work. Cartilage and fat are examples of connective tissue. There are over 200 disorders that impa...
This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys with 47,XYY syndrome are born in the United States each day.
The NINDS conducts and supports research on trauma-related disorders such as whiplash. Much of this research focuses on increasing scientific understanding of these disorders and finding ways to prevent and treat them.
Treatment for encephalitis lethargica is symptomatic. Levodopa and other antiparkinson drugs often produce dramatic responses.
These resources address the diagnosis or management of primary hyperoxaluria: - Gene Review: Gene Review: Primary Hyperoxaluria Type 1 - Gene Review: Gene Review: Primary Hyperoxaluria Type 2 - Gene Review: Gene Review: Primary Hyperoxaluria Type 3 - Genetic Testing Registry: Hyperoxaluria - Genetic Testing Regist...
What causes Lafora disease? Most cases of Lafora disease are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain. Although the proteins are thought to have many functions in the body, one i...
Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't produce enough of a brain chemical called dopamine. Sometimes it is genetic, but most cases do not seem to run in families. Exposure to chemicals in the environment might play a role. Symptoms begin gradually, oft...
9q22.3 microdeletion appears to be a rare chromosomal change. About three dozen affected individuals have been reported in the medical literature.
Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people.
There are two main ways to lower your cholesterol: Therapeutic Lifestyle Changes and medicines.
These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedi...
Summary : Even if you use them properly, many chemicals can still harm human health and the environment. When you throw these substances away, they become hazardous waste. Some hazardous wastes come from products in our homes. Our garbage can include such hazardous wastes as old batteries, bug spray cans and paint thin...
The main reason to have knee replacement surgery is to ease pain and disability caused by arthritis or other joint problems, while preserving movement. Less commonly, it is used to correct some kinds of knee deformity.
What are the signs and symptoms of Kyrle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Kyrle disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo...
You can prevent many of the causes of ED by making healthy lifestyle choices. Following a healthy diet may help prevent ED. Quitting smoking and getting physical activity are also important ways to prevent ED. Physical activity increases blood flow throughout your body, including your penis. Talk with ...
How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding ...
Without treatment, iron may build up in the organs and cause complications, including - cirrhosis, or scarring of liver tissue - diabetes - irregular heart rhythms or weakening of the heart muscle - arthritis - erectile dysfunction The complication most often associated with hemoch...
These resources address the diagnosis or management of ALPS: - Gene Review: Gene Review: Autoimmune Lymphoproliferative Syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome type 1, autosomal recessive - Genetic Testing Regis...
Signs of colon cancer include blood in the stool or a change in bowel habits. These and other signs and symptoms may be caused by colon cancer or by other conditions. Check with your doctor if you have any of the following: - A change in bowel habits. - Blood (either bright red or very dark) in the stool. ...
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abut the brain and nervous system, and to use that knowledge to reduce the burden of neurological diseaset. The NINDS conducts and supports research to understand lipid storage diseases such as acid lipas...
How might type 1 plasminogen deficiency be treated? The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. R...
Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from t...
What are the signs and symptoms of Osteopoikilosis and dacryocystitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopoikilosis and dacryocystitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use...
What are the signs and symptoms of iridocorneal endothelial (ICE) syndrome? The most common feature of ICE syndrome is the movement of endothelial cells off the cornea onto the iris. This loss of cells from the cornea often leads to swelling of the cornea, distortion of the iris, and variable degrees of distortion of t...
These resources address the diagnosis or management of Norrie disease: - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Atrophia bulborum hereditaria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tes...
How is Landau-Kleffner syndrome (LKS) diagnosed? LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All LKS children have abnormal electrical brain activity on both the right and left sides of their brains.
There is no cure for Isaacs' syndrome. The long-term prognosis for individuals with the disorder is uncertain.
IRAK-4 deficiency is a very rare condition, although the exact prevalence is unknown. At least 49 individuals with this condition have been described in the scientific literature.
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.
Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes each provide instructions for making one component of a protein called type IV collagen. This protein plays an important role in the kidneys, specifically in structures called glomeruli. Glomeruli are clusters of specialized blood vess...
In about 80 percent of people with primary hyperparathyroidism, a benign, or noncancerous, tumor called an adenoma has formed in one of the parathyroid glands.2 The tumor causes the gland to become overactive. In most other cases, the excess hormone comes from two or more overactive parathyroid glands, a condition call...
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.
Alpha thalassemia X-linked intellectual disability syndrome appears to be a rare condition, although its exact prevalence is unknown. More than 200 affected individuals have been reported.
How is amniotic band syndrome diagnosed? The earliest reported detection of an amniotic band is at 12 weeks gestation, by vaginal ultrasound. On ultrasound the bands appear as thin, mobile lines, which may be seen attached to or around the baby. However these bands may be difficult to detect by ultrasound, and are more...
What are the signs and symptoms of Tetralogy of fallot and glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of fallot and glaucoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the...
Human papillomavirus infection may increase the risk of developing penile cancer. Anything that increases your chance 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 doesn't mean that you will not get cancer. Talk with your doctor if you...
The most commonly used imaging procedure is the computed tomography or CT scan, also known as a CAT scan. A CT scan is comprised of a series of cross-sectional images of the head and brain. Because it is readily available at all hours at most major hospitals, produces images quickly, and is good for ruling out hemorrha...
Mutations in the NAGA gene cause Schindler disease. The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase. This enzyme works in the lysosomes, which are compartments within cells that digest and recycle materials. Within lysosomes, the enzyme helps break down complexes called glycopr...
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.
Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the ...
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is usually sufficient to cause the disorder. About 20 percent of people who have the mutation that causes Caffey disease do not experience its signs or symptoms; this phenomenon is called incomplete penet...
How might fibrous dysplasia be treated? Unfortunately, there is no cure for fibrous dysplasia. Treatment depends on the symptoms that develop. Fractures often require surgery, but can sometimes be treated with casting or splints.] Surgery is most appropriate in cases where fractures are likely to occur, or where bones ...
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. This condition can be treate...
What are the signs and symptoms of autoimmune autonomic ganglionopathy? The symptoms of autoimmune autonomic ganglionopathy can include: Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years Fainting Constipation and gastrointestinal dysmotility (a condition in which the mus...
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.
Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. Other signs and symp...
ZAP70-related SCID is a rare disorder. Only about 20 affected individuals have been identified. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000.
Hemochromatosis is the most common form of iron overload disease. Too much iron in the body causes hemochromatosis. Iron is important because it is part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues. However, too much iron in the body leads to iron overloada buildup of...
Mutations in the NOTCH3 gene cause CADASIL. The NOTCH3 gene provides instructions for producing the Notch3 receptor protein, which is important for the normal function and survival of vascular smooth muscle cells. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the...
Only a small amount of the salt that we eat comes from the salt shaker, and only small amounts occur naturally in food. Most of the salt that we eat comes from processed foods -- for example, canned or processed meat, baked goods, and certain cereals, and foods with soy sauce, seasoned salts, monosodium glutamate (MSG)...
Is genetic testing available for pachyonychia congenita? Yes, genetic testing is available for the five genes known to cause pachyonychia congenita. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a cen...
How might dominant optic atrophy be treated? There is currently no cure for dominant optic atrophy (DOA). Management generally consists of regular eye exams, including measurement of visual acuity, color vision, visual fields and optical coherence tomography (OCT). Currently there is no specific treatment, but low-visi...
What causes triple A syndrome? Mutations in the AAAS gene cause triple A syndrome in many affected individuals. This gene provides instructions for making a protein called ALADIN, whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and s...
The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. Researchers suspect that FG syndrome may be overdiagnosed because many of its signs and symptoms are also seen with other disorders.
Summary : Caffeine is a bitter substance found in coffee, tea, soft drinks, chocolate, kola nuts, and certain medicines. It has many effects on the body's metabolism, including stimulating the central nervous system. This can make you more alert and give you a boost of energy. For most people, the amount of caffein...
The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandm...
Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between th...
Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known ...
The use of certain medicines and other factors decrease the risk of breast cancer. Anything that decreases your chance of getting a disease is called a protective factor. Protective factors for breast cancer include the following: - Taking any of the following: - Estrogen-only hormone th...
Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cau...
What causes nephrogenic diabetes insipidus? Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form can result from chronic kidney disease, certain medications (such as lithium), low levels of potassium in the blood (hypokalemia), high levels of calcium in the blood (hypercalcemia), or an...
Dumping syndrome occurs when food, especially sugar, moves too fast from the stomach to the duodenumthe first part of the small intestinein the upper gastrointestinal (GI) tract. This condition is also called rapid gastric emptying. Dumping syndrome has two forms, based on when symptoms occur: - early ...
Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to...
These resources address the diagnosis or management of multiple mitochondrial dysfunctions syndrome: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1 - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2 - Ge...
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.
Calories provide energy for your body. If your doctor recommends it, you may need to cut down on the calories you eat. A dietitian can help you plan ways to cut calories in the best possible way. Some people on dialysis need to gain weight. You may need to find ways to add calories to your diet. Vegeta...
What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, ...
Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000 newborn males worldwide. Between 400 and 600 boys in the United States are born with these conditions each year.
Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the act...
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 p...
Most UTIs are caused by bacteria that live in the bowel, the part of the digestive tract where stool is changed from liquid to solid. The bacterium Escherichia coli (E. coli) causes most UTIs. The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way...
What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medi...
Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that g...
As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated g...
The prevalence of this condition is unknown.
Loin pain hematuria syndrome (LPHS) is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). Other signs and symptoms include nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria during episodes of pain. The exact underlying cause of LPHS is currently ...
What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communica...
The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH), and through grants to major medical institutions across the country. Currently, NINDS researchers are studying the mechanisms of st...
Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Resear...
Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You ...
Scabies is an infestation of the skin by the human itch mite (Sarcoptes scabiei var. hominis). The microscopic scabies mite burrows into the upper layer of the skin where it lives and lays its eggs. The most common symptoms of scabies are intense itching and a pimple-like skin rash. The scabies mite usually is spread b...
2-methylbutyryl-CoA dehydrogenase deficiency is a metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of ...