Datasets:
codexist
/
medical_data

Dataset card Data Studio Files
xet
 Community
1
data
stringlengths
25
1.5k
Familial juvenile hyperuricaemic nephropathy (FJHN) is an inherited condition that affects the kidneys. The signs and symptoms vary, even among members of the same family. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the ...
Shaken baby syndrome is a type of inflicted traumatic brain injury that happens when a baby is violently shaken. A baby has weak neck muscles and a large, heavy head. Shaking makes the fragile brain bounce back and forth inside the skull and causes bruising, swelling, and bleeding, which can lead to permanent, severe b...
These resources address the diagnosis or management of idiopathic inflammatory myopathy: - Genetic Testing Registry: Idiopathic myopathy - Genetic Testing Registry: Inclusion body myositis - Johns Hopkins Myositis Center: Diagnosis - Johns Hopkins Myositis Center: Treatment - Muscular Dystrophy Association: Facts ...
The process used to find out if cancer has spread within the brain or to other parts of the body is called staging. There is no standard system for staging childhood craniopharyngioma. Craniopharyngioma is described as newly diagnosed disease or recurrent disease. The results of the tests and procedures done to diagnos...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the calcium level in the blood can be controlled. - The stage of the cancer. - Whether the tumor and the capsule around the tumor can be...
Gray platelet syndrome appears to be a rare disorder. About 60 cases have been reported worldwide.
What causes gamma heavy chain disease? The causes or risk factors for gamma heavy chain disease are not known.
Mutations in the APRT gene cause APRT deficiency. This gene provides instructions for making APRT, an enzyme that helps to convert a DNA building block (nucleotide) called adenine to a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells. APRT gene mu...
Breast cancer is sometimes caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary breast cancer makes up about 5% to 10% of all breast cancer. Some mutated genes related to breast cancer are more common in certain ethnic grou...
A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common.
What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the...
Signs of bile duct cancer include jaundice and pain in the abdomen. These and other signs and symptoms may be caused by bile duct cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin or whites of the eyes). - Dark urine. - Clay colored ...
Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. It remains unclear how a mutation in the FGFR3 gene leads to the characteristic features of Crouzonodermoskeletal syn...
Acral peeling skin syndrome is a rare condition, with several dozen cases reported in the medical literature. However, because its signs and symptoms tend to be mild and similar to those of other skin disorders, the condition is likely underdiagnosed.
Summary : If you have a disability or injury, you may use a number of assistive devices. These are tools, products or types of equipment that help you perform tasks and activities. They may help you move around, see, communicate, eat, or get dressed. Some are high-tech tools, such as computers. Others are much simpler,...
The name acromegaly comes from the Greek words for "extremities" and "enlargement," reflecting one of its most common symptomsthe abnormal growth of the hands and feet. Swelling of the hands and feet is often an early feature, with patients noticing a change in ring or shoe size, particularly shoe width. Gradually, bon...
How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.
Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but...
Proteinuriaalso called albuminuria or urine albuminis a condition in which urine contains an abnormal amount of protein. Albumin is the main protein in the blood. Proteins are the building blocks for all body parts, including muscles, bones, hair, and nails. Proteins in the blood also perform a number of important func...
Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleed...
Mutations in the CHD7 gene cause more than half of all cases of CHARGE syndrome. The CHD7 gene provides instructions for making a protein that most likely regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The ...
How is Rotor syndrome diagnosed? Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bi...
The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it appears to be rare. Several dozen cases have been reported in the medical literature. Researchers suspect that the disorder is underdiagnosed because its signs and symptoms vary and some of them are subtle.
Mutations in the MTTP gene cause abetalipoproteinemia. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the ...
How might achalasia be treated? The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve: Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix) Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium ch...
The prognosis for girls with Aicardi syndrome varies according to the severity of their symptoms. There is an increased risk for death in childhood and adolescence, but survivors into adulthood have been described.
These resources address the diagnosis or management of myopathy with deficiency of iron-sulfur cluster assembly enzyme: - Gene Review: Gene Review: Myopathy with Deficiency of ISCU - Genetic Testing Registry: Myopathy with lactic acidosis, hereditary - MedlinePlus Encyclopedia: Rhabdomyolysis These resources from ...
How is Doyne honeycomb retinal dystrophy inherited? Doyne honeycomb retinal dystrophy (DHRD) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal ...
Treatment of chronic eosinophilic leukemia may include the following: - Bone marrow transplant. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic eosinophili...
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.
Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissue...
Pulmonary arterial hypertension is usually sporadic, which means it occurs in individuals with no known family history of the disorder. These non-familial cases are described as idiopathic pulmonary arterial hypertension. About 20 percent of these cases are caused by mutations in one of the genes known to be associated...
How is hereditary multiple osteochondromas inherited? HMO is caused by mutations in the EXT1 and EXT2 genes. It is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause this condition. In most cases, an affected individual inherits the mutation fro...
African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this...
Schwannomas are tumors of the tissue that covers the nerves (nerve sheath). These tumors develop from a type of cell called a Schwann cell, which gives these tumors their name. They are usually benign (not cancerous). Although schwannomas can arise from any nerve in the body, the most common areas include the nerves of...
Hyperthyroidism has many symptoms that can vary from person to person. Some common symptoms of hyperthyroidism are - nervousness or irritability - fatigue or muscle weakness - heat intolerance - trouble sleeping - hand tremors - rapid and irregular heartbeat - frequent bowel movements or diarrhea...
Scientists have not yet found a way to prevent PKD. However, people with PKD may slow the progression of kidney damage caused by high blood pressure through lifestyle changes, diet, and blood pressure medications. People with PKD should be physically active 30 minutes a day most days of the week. See Eating, Diet, and ...
Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to several days of intravenous corticosteroids such as methylprednisolone, followed by oral corticosteroid treatment. When corticosteroids fail to work, plasmapheresis or intravenous immunoglo...
Viral hepatitis is inflammation of the liver caused by a virus. Several different viruses, named the hepatitis A, B, C, D, and E viruses, cause viral hepatitis. All of these viruses cause acute, or short-term, viral hepatitis. The hepatitis B, C, and D viruses can also cause chronic hepatitis, in which...
These resources address the diagnosis or management of fragile XE syndrome: - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet - Genetic Testing Registry: FRAXE These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno...
Mutations in the FLNA gene cause Melnick-Needles syndrome. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, ...
Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal abnormalities, and reverses other symptoms of the disorder. The U.S. Food and Drug Administration has approved eligustat tartrat...
Autoimmune polyglandular syndrome, type 1 is thought to be a rare condition, with about 500 cases reported worldwide. This condition occurs more frequently in certain populations, including Iranian Jews, Sardinians, and Finns.
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.
No genes associated with retroperitoneal fibrosis have been identified. Retroperitoneal fibrosis occasionally occurs with autoimmune disorders, which result when the immune system malfunctions and attacks the body's own organs and tissues. Researchers suggest that the immune system may be involved in the development o...
These resources address the diagnosis or management of familial adenomatous polyposis: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Review: Gene Review: APC-Associated Polyposis Con...
These resources address the diagnosis or management of 22q13.3 deletion syndrome: - Gene Review: Gene Review: Phelan-McDermid Syndrome - Genetic Testing Registry: 22q13.3 deletion syndrome - MedlinePlus Encyclopedia: Sweating--absent These resources from MedlinePlus offer information about the diagnosis and manage...
Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream. Mutations in either gene imp...
Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of copying (replicating) DNA in preparation for cell division. Mutations ...
Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected. Symptoms in women include - Yellow-green or gray dis...
Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degen...
Summary : Taking home a new baby is one of the happiest times in a woman's life. But it also presents both physical and emotional challenges. - Get as much rest as possible. You may find that all you can do is eat, sleep, and care for your baby. And that is perfectly okay. You will have spotting or bleeding, li...
These resources address the diagnosis or management of optic atrophy type 1: - Gene Review: Gene Review: Optic Atrophy Type 1 - Genetic Testing Registry: Dominant hereditary optic atrophy - MedlinePlus Encyclopedia: Optic Nerve Atrophy - MedlinePlus Encyclopedia: Visual Acuity Test These resources from MedlinePlu...
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.
Yes. Although most cataracts are related to aging, there are other types of cataract. These include - secondary cataract - traumatic cataract - congenital cataract - radiation cataract. secondary cataract traumatic cataract congenital cataract radiation cataract. Secondary cataracts can form after surgery for other ...
Is a pilomatrixoma inherited? Most isolated (without other signs and symptoms) pilomatrixomas are not inherited. However, more than one family member can rarely be affected, which suggests there may be a hereditary component in some cases. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Ga...
Proximal neuropathy, sometimes called lumbosacral plexus neuropathy, femoral neuropathy, or diabetic amyotrophy, starts with pain in the thighs, hips, buttocks, or legs, usually on one side of the body. This type of neuropathy is more common in those with type 2 diabetes and in older adults with diabetes. Proximal neur...
Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive.
Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII, which is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues. ...
Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested ...
Summary : The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. A pancreas transplant is surgery to place a healthy pancreas from a donor into a person with a diseased pancreas. It is mostly done fo...
Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown. Individuals with ...
Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, ...
Fourteen of the 26 bones in your feet are in your toes. The toes, particularly your big toe, help you move and keep your balance. Playing sports, running, and receiving a blow to the foot can damage your toes. Wearing shoes that are too loose or too tight can also cause toe problems. Certain diseases, such as severe ar...
Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. Eating carbohydrate-rich...
Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterio...
Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy.
Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and ma...
The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood. The...
There is no specific treatment for PVL. Treatment is symptomatic and supportive. Children with PVL should receive regular medical screenings to determine appropriate interventions.
FOXG1 syndrome appears to be rare. At least 30 affected individuals have been described in the medical literature.
Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the ey...
- Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings. - The first symptom of biliary atresia is jaundicewhen the skin and whites of the eyes turn yellow. Other symptoms include dark urine, gray or white stools, and slow weight gain...
Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals.
What causes tumor necrosis factor receptor-associated periodic syndrome (TRAPS)? TRAPS is a genetic condition caused by mutations in a gene called TNFRSF1A. This gene gives the body instructions to make a protein called tumor necrosis factor receptor 1 (TNFR1). This protein exists in cell membranes where it binds to an...
Without surgery, the majority of individuals with Moyamoya disease will experience mental decline and multiple strokes because of the progressive narrowing of arteries.Without treatment,Moyamoya diseasecan be fatal as the result ofintracerebral hemorrhage (bleeding within the brain).
Visceral toxocariasis can be treated with antiparasitic drugs such as albendazole or mebendazole. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye. More on: Resources For Health Professionals: Treatment
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.
Clear cell renal cell carcinoma is a cancer of the kidney. The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell r...
What are the signs and symptoms of Prekallikrein deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Prekallikrein deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can...
The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile ac...
What are the signs and symptoms of Dwarfism, proportionate with hip dislocation? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, proportionate with hip dislocation. If the information is available, the table below includes how often the symptom is seen in people with this co...
Mutations in the SH2D1A and XIAP genes cause XLP. SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2. The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). This protein is involved in the functioning of lymphocytes ...
Benign familial neonatal seizures occurs in approximately 1 in 100,000 newborns.
This condition is inherited in an autosomal dominant, male-limited pattern, which means one copy of the altered LHCGR gene in each cell is sufficient to cause the disorder in males. Females with mutations associated with familial male-limited precocious puberty appear to be unaffected. In some cases, an affected male i...
How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typ...
Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop att...
What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter bloo...
The prognosis for craniosynostosis varies depending on whether single or multiple cranial sutures are involved or other abnormalities are present. The prognosis is better for those with single suture involvement and no associated abnormalities.
Wolmans disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.
Mutations in the ALMS1 gene cause Alstrm syndrome. The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissue...
Drug therapy including verapamil may help to reduce the severity and duration of attacks of paralysis associated with the more serious form of alternating hemiplegia
Problems with the penis can cause pain and affect a man's sexual function and fertility. Penis disorders include - Erectile dysfunction - inability to get or keep an erection - Priapism - a painful erection that does not go away - Peyronie's disease - bending of the penis during an erection due to a ha...
What causes Ehlers-Danlos syndrome, vascular type? Ehlers-Danlos syndrome (EDS), vascular type is caused by changes (mutations) in the COL3A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues througho...
The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them.
Sexual abuse is one form of child abuse. It includes a wide range of actions between a child and an adult or older child. Often these involve body contact, but not always. Exposing one's genitals to children or pressuring them for sex is sexual abuse. Using a child for pornography is also sexual abuse. Most sexual a...
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, composed of wastes and extra fluid. The urine flows from the kidneys...
The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those afflicted to eventually function independently in society. Others are not. Some infants, children, and adults die; others remain totally disabled; and an even larger po...
Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal cord. It happens if the spinal column of the fetus doesn't close completely during the first month of pregnancy. This can damage the nerves and spinal cord. Screening tests during pregnancy can check for spina bifida. Sometimes...
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Todd's paralysis in its clinics and laboratories at The National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. Much of this research focuses on...