Datasets:
codexist
/
medical_data

Dataset card Data Studio Files
xet
 Community
1
data
stringlengths
25
1.5k
Cysticercosis is an infection caused by the larvae of the parasite Taenia solium. This infection occurs after a person swallows tapeworm eggs. The larvae get into tissues such as muscle and brain, and form cysts there (these are called cysticerci). When cysts are found in the brain, the condition is called neurocystic...
Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have ...
How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrow...
You can do a lot to reduce your risk of getting type 2 diabetes. Being more physically active, reducing fat and calorie intake, and losing a little weight can help you lower your chances of developing type 2 diabetes. Taking the diabetes medicine metformin can also reduce risk, particularly in younger and heavier peopl...
Spinal cord injuries are classified as either complete or incomplete. An incomplete injury means that the ability of the spinal cord to convey messages to or from the brain is not completely lost. People with incomplete injuries retain some motor or sensory function below the injury. A complete injury is indicated by a...
Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in ...
15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language ...
Thrombotic thrombocytopenic purpura (TTP) is a rare disorder. Most cases of TTP are acquired. Acquired TTP mostly occurs in adults, but it can affect children. The condition occurs more often in women and in Black people than in other groups. Inherited TTP mainly affects newborns and children. Most peo...
Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: - Infertility - Pelvi...
The nerve damage of diabetes may cause sexual or urologic problems. - Sexual problems in men with diabetes include - erectile dysfunction - retrograde ejaculation - Sexual problems in women with diabetes include - decreased vaginal lubrication and uncomfortable or painful intercourse ...
The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large inte...
Summary : In the U.S., the government's Food and Drug Administration (FDA) must approve any drug before it can be sold. This is true whether it's a prescription or an over-the-counter drug. The FDA evaluates the safety of a drug by looking at - Side effects - How it's manufactured - Results of animal testin...
Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, where it affects at least 1 in 200,000 people.
What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typi...
Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. ...
CMAMMA appears to be a rare disease. Approximately a dozen cases have been reported in the scientific literature.
The causes of Kawasaki disease are not well understood. The disorder is generally regarded as being the result of an abnormal immune system activation, but the triggers of this abnormal response are unknown. Because cases of the disorder tend to cluster geographically and by season, researchers have suggested that an i...
- Mntriers disease causes the ridges along the inside of the stomach wallcalled rugaeto enlarge, forming giant folds in the stomach lining. The rugae enlarge because of an overgrowth of mucous cells in the stomach wall. - Scientists are unsure about what causes Mntriers disease; however, researchers think that most pe...
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appea...
Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids. People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near t...
Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns.
These resources address the diagnosis or management of hypophosphatasia: - Gene Review: Gene Review: Hypophosphatasia - Genetic Testing Registry: Adult hypophosphatasia - Genetic Testing Registry: Childhood hypophosphatasia - Genetic Testing Registry: Hypophosphatasia - Genetic Testing Registry: Infantile hypophos...
These resources address the diagnosis or management of ADCY5-related dyskinesia: - Gene Review: Gene Review: ADCY5-Related Dyskinesia - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia - National Ataxia Foundation: Movement Disorder Clinics These resources from MedlinePlus offer information abo...
Vitelliform macular dystrophy is a rare disorder; its incidence is unknown.
Depending on the cause of your smell disorder, your doctor may be able to treat your problem or suggest ways to cope with it. If a certain medication is the cause of the disorder, ask your doctor if you could substitute other medications or reduce the dose. Your doctor will work with you to get the medicine you need wh...
Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene. When the condition is caused by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. People with Parkes Weber syndrome who do not have multiple capillary malformations are unlikely to have mutations in the ...
How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed fr...
How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of...
These resources address the diagnosis or management of hereditary neuropathy with liability to pressure palsies: - Gene Review: Gene Review: Hereditary Neuropathy with Liability to Pressure Palsies - Genetic Testing Registry: Hereditary liability to pressure palsies - MedlinePlus Encyclopedia: carpal tunnel syndrome...
Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain,...
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.
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appea...
What are the signs and symptoms of Spondylospinal thoracic dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylospinal thoracic dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use...
How might bronchiolitis obliterans be treated? While there is no cure for this condition, treatment with corticosteroids can help to stabilize or slow its progression. Immunosuppressive therapies and lung transplants might also be used. Treatment is most effective during the early stages of the disease. If left untreat...
What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. 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 M...
Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.
What causes achondroplasia? Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researc...
- Indigestion, also known as dyspepsia, is a term used to describe one or more symptoms including a feeling of fullness during a meal, uncomfortable fullness after a meal, and burning or pain in the upper abdomen. - Indigestion can be caused by a condition in the digestive tract such as gastroesophageal reflux disease...
People with RAS are at increased risk for complications resulting from loss of kidney function or atherosclerosis occurring in other blood vessels, such as - chronic kidney disease (CKD)reduced kidney function over a period of time - coronary artery diseasenarrowing and hardening of arteries that supp...
These resources address the diagnosis or management of adermatoglyphia: - Genetic Testing Registry: Adermatoglyphia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli...
The prevalence of prekallikrein deficiency is unknown. Approximately 80 affected individuals in about 30 families have been described in the medical literature. Because prekallikrein deficiency usually does not cause any symptoms, researchers suspect that most people with the condition are never diagnosed.
Episodes eventually decrease in frequency and intensity over the course of eight to 12 years.
White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affect...
These resources address the diagnosis or management of branchiootorenal/branchiootic syndrome: - Gene Review: Gene Review: Branchiootorenal Spectrum Disorders - Genetic Testing Registry: Branchiootic syndrome - Genetic Testing Registry: Branchiootic syndrome 2 - Genetic Testing Registry: Branchiootic syndrome 3 - ...
Summary : Your child's health includes physical, mental and social well-being. Most parents know the basics of keeping children healthy, like offering them healthy foods, making sure they get enough sleep and exercise and insuring their safety. It is also important for children to get regular checkups with their he...
These resources address the diagnosis or management of complement factor I deficiency: - MedlinePlus Encyclopedia: Complement These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti...
Never eat raw freshwater crabs or crayfish. Cook crabs and crayfish for to at least 145°F (~63°C). Travelers should be advised to avoid traditional meals containing undercooked freshwater crustaceans. More on: Fight BAC: Safe Food Handling
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.
Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weak...
Your digestive or gastrointestinal (GI) tract includes the esophagus, stomach, small intestine, large intestine or colon, rectum, and anus. Bleeding can come from any of these areas. The amount of bleeding can be so small that only a lab test can find it. Signs of bleeding in the digestive tract depend where it is ...
How is renal oncocytoma diagnosed? A diagnosis of renal oncocytoma is often suspected based on imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). However, it can be difficult to differentiate a renal oncocytoma from renal cell carcinoma based on imaging studies alone. Al...
Currently there is no cure for these disease syndromes.Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.Surgery to remove tonsils and adenoids may improve breathing among affe...
Key Points - There is no standard staging system for chronic myeloproliferative neoplasms. There is no standard staging system for chronic myeloproliferative neoplasms. Staging is the process used to find out how far the cance...
Your ankle bone and the ends of your two lower leg bones make up the ankle joint. Your ligaments, which connect bones to one another, stabilize and support it. Your muscles and tendons move it. The most common ankle problems are sprains and fractures. A sprain is an injury to the ligaments. It may take a few weeks t...
Your backbone, or spine, is made up of 26 bone discs called vertebrae. The vertebrae protect your spinal cord and allow you to stand and bend. A number of problems can change the structure of the spine or damage the vertebrae and surrounding tissue. They include - Infections - Injuries - Tumors - Conditi...
Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is active in the eyelids and ovaries. The FOXL2 protein is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, the protein regulates the growth and development o...
Signs of rectal cancer include a change in bowel habits or blood in the stool. These and other signs and symptoms may be caused by rectal cancer or by other conditions. Check with your doctor if you have any of the following: - Blood (either bright red or very dark) in the stool. - A change in bowel habits....
If you suffer from migraine headaches, you're not alone. About 12 percent of the U.S. population gets them. Migraines are recurring attacks of moderate to severe pain. The pain is throbbing or pulsing, and is often on one side of the head. During migraines, people are very sensitive to light and sound. They may also be...
Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachy...
How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affect...
These resources address the diagnosis or management of familial hypobetalipoproteinemia: - Genetic Testing Registry: Familial hypobetalipoproteinemia - Genetic Testing Registry: Hypobetalipoproteinemia, familial, 2 These resources from MedlinePlus offer information about the diagnosis and management of various heal...
Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the ...
How might fetal and neonatal alloimmune thrombocytopenia (NAIT) be treated? NAIT is often unexpected and is usually diagnosed after birth. Once suspected, the diagnosis is confirmed by demonstration of maternal anti-platelet antibodies directed against a paternal antigen inherited by the baby. Management in the newborn...
These resources address the diagnosis or management of periventricular heterotopia: - Gene Review: Gene Review: FLNA-Related Periventricular Nodular Heterotopia - Genetic Testing Registry: Heterotopia, periventricular, associated with chromosome 5p anomalies - Genetic Testing Registry: Heterotopia, periventricular, ...
Familial atrial fibrillation appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Before birth, a childs nerve cells normally grow along the intestines in the direction of the anus. With HD, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some HD is inherited, meaning it is passed from parent to child through genes. HD is not caused by anything a mother did while ...
Rheumatoid arthritis (RA) is a form of arthritis that causes pain, swelling, stiffness and loss of function in your joints. It can affect any joint but is common in the wrist and fingers. More women than men get rheumatoid arthritis. It often starts in middle age and is most common in older people. You might have th...
When a defect in the urinary tract blocks the flow of urine, the urine backs up and causes the ureters to swell, called hydroureter, and hydronephrosis. Hydronephrosis is the most common problem found during prenatal ultrasound of a baby in the womb. The swelling may be easy to see or barely detectable...
These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome: - American Academy of Ophthalmology: The Tearing Patient - Cincinnati Children's Hospital: Tear Duct Probing and Irrigation - Cleveland Clinic: Dry Eyes - Cleveland Clinic: Dry Mouth Treatment - Genetic Testing Registry...
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.
Stargardt macular degeneration is the most common form of juvenile macular degeneration, the signs and symptoms of which begin in childhood. The estimated prevalence of Stargardt macular degeneration is 1 in 8,000 to 10,000 individuals.
Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), ...
What causes neutral lipid storage disease with myopathy? Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglyc...
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. More than 90 percent of cases of CCHS result from new mutations in the PHOX2B gene. These cases occur in people with no history of the disorder in their family. Occas...
L1 syndrome is an inherited disorder that primarily affects the nervous system. L1 syndrome involves a variety of features that were once thought to be distinct disorders, but are now considered to be part of the same syndrome. The most common characteristics of L1 syndrome are muscle stiffness (spasticity) of the lowe...
What are the signs and symptoms of Myelodysplastic syndromes? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelodysplastic syndromes. 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 M...
How might leukoplakia be treated? For most people, removing the source of irritation is important and often causes the lesion to disappear. For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition. Dental causes such as rough teeth or fillings should be treated as soon a...
Most children recover completely from SD, although a small number will continue to have disabling, persistent chorea despite treatment. The duration of symptoms varies, generally from 3 to 6 weeks, but some children will have symptoms for several months. Cardiac complications may occur in a small minority of children, ...
Crystal arthropathies are a diverse group of bone diseases associated with the deposition of minerals within joints and the soft tissues around the joints. The group includes gout, basic calcium phosphate and calcium pyrophosphate dihydrate deposition diseases, and, in very rare cases, calcium oxalate crystal arthropat...
A child with a UTI may not have any symptoms. When symptoms are present, they can range from mild to severe. UTI symptoms can include - fever - pain or burning during urination with only a few drops of urine at a time - irritability - not eating - nausea - diarrhea - vomiting - cloudy, dark, blo...
Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes pr...
Primary myelofibrosis is a rare condition that affects approximately 1 in 500,000 people worldwide.
These resources address the diagnosis or management of triple X syndrome: - Association for X and Y Chromosome Variations (AXYS): Trisomy X Syndrome - Genetic Testing Registry: Trisomy X syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - D...
Summary : Antidepressants are medicines that treat depression. Your doctor can prescribe them for you. They work to balance some of the natural chemicals in our brains. It may take several weeks for them to help. There are several types of antidepressants. You and your doctor may have to try a few before finding what w...
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.
These resources address the diagnosis or management of familial pityriasis rubra pilaris: - Genetic Testing Registry: Pityriasis rubra pilaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabil...
What are the symptoms of microcystic adnexal carcinoma? Microcystic adnexal carcinoma appears as a smooth bump or patch that is slightly raised from the surrounding skin. It may be flesh-colored or yellowish, and it increases in size over time. A microcystic adnexal carcinoma may grow into nerves nearby, which can ca...
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 may result from new mutations in the gene. These cases occur in people w...
6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for ...
18q deletion syndrome occurs in an estimated 1 in 40,000 newborns. This condition is found in people of all ethnic backgrounds.
Carcinoid tumors are rare, slow-growing cancers. They usually start in the lining of the digestive tract or in the lungs. They grow slowly and don't produce symptoms in the early stages. As a result, the average age of people diagnosed with digestive or lung carcinoids is about 60. In later stages the tumors someti...
These resources address the diagnosis or management of pulmonary arterial hypertension: - Gene Review: Gene Review: Heritable Pulmonary Arterial Hypertension - Genetic Testing Registry: Primary pulmonary hypertension - Genetic Testing Registry: Primary pulmonary hypertension 2 - Genetic Testing Registry: Primary pu...
Permanent neonatal diabetes mellitus can have different inheritance patterns. When this condition is caused by mutations in the KCNJ11 or INS gene it 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 about 90 percent of these ca...
Currently there is no cure for FMD. Medicines and angioplasty can reduce the risk of initial or recurrent stroke. In rare cases, FMD-related aneurysms can burst and bleed into the brain, causing stroke, permanent nerve damage, or death.
Some brain cells die because they stop getting the oxygen and nutrients they need to function. Other brain cells die because they are damaged by sudden bleeding into or around the brain. The brain cells that don't die immediately remain at risk for death. These cells can linger in a compromised or weakened state for se...
Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that make up hemoglobin. In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another p...
Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop g...
No specific treatment exists for the gangliosidoses. Anticonvulsants may initially control seizures. Other supportive treatment includes proper nutrition and hydration and keeping the airway open.
MCHS is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria eac...
Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which ...