Datasets:
codexist
/
medical_data

Dataset card Data Studio Files
xet
 Community
1
data
stringlengths
25
1.5k
Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead ...
Marinesco-Sjgren syndrome appears to be a rare condition. More than 100 cases have been reported worldwide.
Treatment for Chagas disease is recommended for all people diagnosed with an acute infection, congenital infection, and for those with suppressed immune systems, and for all children with chronic infection. Adults with chronic infection may also benefit from treatment. For cardiac or gastrointestinal problems resu...
Neuroblastoma is the most common cancer in infants younger than 1 year. It occurs in 1 in 100,000 children and is diagnosed in about 650 children each year in the United States.
When isolated ectopia lentis is caused by mutations in the FBN1 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new...
Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appear...
Treatment depends on the type of heart block you have. If you have first-degree heart block, you may not need treatment. If you have second-degree heart block, you may need a pacemaker. A pacemaker is a small device that's placed under the skin of your chest or abdomen. This device uses electrical puls...
The main symptoms of HD are constipation or intestinal obstruction, usually appearing shortly after birth. Constipation in infants and children is common and usually comes and goes, but if your child has had ongoing constipation since birth, HD may be the problem. Symptoms in Newborns ...
What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people wi...
When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. They can pass ...
Summary : Tubal ligation (getting your "tubes tied") is a type of surgery. It prevents a woman from getting pregnant. It is a permanent form of birth control. The surgery closes the fallopian tubes, which connect the ovaries to the uterus. It usually takes about 30 minutes. Almost all women go home the same day. Wom...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patients age. - The phase of CML. - The amount of blasts in the blood or bone marrow. - The size of the spleen at diagnosis. - The pati...
The vulva is the external part of a woman's genitals. Some problems you can have with the vulvar area include - Bacterial or fungal infections - Skin problems due to allergy - Vulvar cancer - Vulvodynia, or vulvar pain Symptoms may include redness, itching, pain, or cracks in the skin. Treatme...
How might guttate psoriasis be treated? The goal of treatment is to control the symptoms and prevent secondary infections. Mild cases of guttate psoriasis are usually treated at home. The following may be recommended: Cortisone (anti-itch and anti-inflammatory) cream Dandruff shampoos (over-the-counter or prescription)...
What causes Gardner syndrome? Gardner syndrome is caused by changes (mutations) in the APC gene, which is called a "tumor suppressor." Tumor suppressor genes encode proteins that are part of the system that controls cell growth and division. These proteins ensure that cells do not grow and divide too quickly or in an a...
Piercings and tattoos are body decorations that go back to ancient times. Body piercing involves making a hole in the skin so that you can insert jewelry. This is often in the earlobe, but can be in other parts of the body. Tattoos are designs on the skin made with needles and colored ink. A permanent tattoo is meant t...
How is multiple endocrine neoplasia type 2A inherited? Multiple endocrine neoplasia type 2A (MEN 2A) is inherited in an autosomal dominant pattern. A person with MEN 2A often inherits the altered RET gene from one parent with the condition.
AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an essential role in early development. The p63 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of particular genes. The p63 prote...
These resources address the diagnosis or management of ARCA1: - Gene Review: Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia - Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive 8 - Johns Hopkins Medicine Department of Neurology and Neurosurgery: What is Ataxia? - MedlinePlus Enc...
What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in t...
Diagnosis of dry eye requires a comprehensive eye evaluation. Your eye care professional will ask you about your symptoms, your overall health (conditions for which you are treated, medications that you take), your eye history (use of contact lenses, past refractive or other eye surgery), and aspects of your daily envi...
Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown.
Depending on the substance(s) involved, treatment may include medications, behavioral treatments, or a combination. A doctor, substance abuse counselor, or other health professional can determine the right treatment for an individual. Treatment helps people reduce the powerful effects of drugs on the body and brain. In...
These resources address the diagnosis or management of Lennox-Gastaut syndrome: - Cleveland Clinic - Genetic Testing Registry: Epileptic encephalopathy Lennox-Gastaut type - National Institute of Neurological Disorders and Stroke: Diagnosis and Treatment of Epilepsy - News Release: FDA Approves New Drug to Treat Se...
No matter how old you are or what you do for a living, you are always using your hands. When there is something wrong with them, you may not be able to do your regular activities. Hand problems include - Carpal tunnel syndrome - compression of a nerve as it goes through the wrist, often making your fingers ...
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to t...
Mutations in the TH gene cause TH deficiency. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. Tyrosine hydroxylase takes part in the pathway that produces a group of chemical messengers (hormones) called catecholamines. Tyros...
There are many different species of hookworms, some are human parasites and some are animal parasites. People can be infected by larvae of animal hookworms, usually dog and cat hookworms. The most common result of animal hookworm infection is a skin condition called cutaneous larva migrans.
What are the signs and symptoms of multifocal motor neuropathy? Signs and symptoms of multifocal motor neuropathy (MMN) may include weakness; cramping; involuntary contractions or twitching; and wasting (atrophy) of affected muscles. Atrophy occurs late in the course of the condition. Muscles of the hands and lower arm...
There is usually no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, water bolus (rapid infusion of water given ...
This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 90 percent of cases of GLUT1 deficiency syndrome result from new mutations in the gene. These cases occur in people with no history of the disorder in th...
Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated...
Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein ...
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 almost all cases, NOMID results from new mutations. These cases occur in people with no history of the disorder in their family. A few cases have been reported in ...
Frasier syndrome is thought to be a rare condition; approximately 50 cases have been described in the scientific literature.
Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus ca...
These resources address the diagnosis or management of Carpenter syndrome: - Genetic Testing Registry: Carpenter syndrome 1 - Genetic Testing Registry: Carpenter syndrome 2 - Great Ormond Street Hospital for Children (UK): Craniosynostosis Information - Johns Hopkins Medicine: Craniosynostosis Treatment Options - ...
There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. Most treatments are symptomatic a...
The anus is where stool leaves your body when you go to the bathroom. It is made up of your outer layers of skin and the end of your large intestine. Anal cancer is a disease in which cancer cells form in the tissues of the anus. Anal cancer is rare. It is more common in smokers and people over 50. You are also at h...
The most common sign of primary amyloidosis of the kidneys is nephrotic syndromea collection of signs that indicate kidney damage. The signs of nephrotic syndrome include - albuminuriaan increased amount of albumin, a protein, in the urine. A person with nephrotic syndrome excretes more than half a tea...
Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood. People who develop ARDS often are very ill with another disease or have major injuries. The condition leads to a buildup of fluid in the air sacs which prevents enou...
These resources address the diagnosis or management of atelosteogenesis type 2: - Gene Review: Gene Review: Atelosteogenesis Type 2 - Genetic Testing Registry: Atelosteogenesis type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te...
Some cases of herpes zoster oticus do not require treatment. When treatment is needed, medications such as antiviral drugs or corticosteroids may be prescribed. Vertigo may be treated with the drug diazepam
These resources address the diagnosis or management of Hajdu-Cheney syndrome: - Genetic Testing Registry: Hajdu-Cheney syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene...
How is dihydropyrimidine dehydrogenase deficiency inherited? Dihydropyrimidine dehydrogenase (DPD) deficiency is inherited in an autosomal recessive manner. This means that in affected individuals, both copies of the DPYD gene in each cell (one inherited from each parent) have mutations. The mutations that cause DPD de...
The urethra is the tube that allows urine to pass out of the body. In men, it's a long tube that runs through the penis. It also carries semen in men. In women, it's short and is just above the vagina. Urethral problems may happen due to aging, illness, or injury. They include - Urethral stricture - a narrowing o...
Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. It is more common in certain populations, such as the Persian Jewish community and Alaska Natives.
Summary : A cochlear implant is a small, complex electronic device that can help to provide a sense of sound. People who are profoundly deaf or severely hard-of-hearing can get help from them. The implant consists of two parts. One part sits on the outside of the body, behind the ear. A second part is surgically placed...
A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chor...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to SD in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Currently, researchers are study...
Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. This process gener...
Roberts syndrome is a rare disorder; approximately 150 affected individuals have been reported.
Schistosomiasis, also known as bilharzia, is a disease caused by parasitic worms. Infection with Schistosoma mansoni, S. haematobium, and S. japonicum causes illness in humans; less commonly, S. mekongi and S. intercalatum can cause disease. Although the worms that cause schistosomiasis are not found in the United Stat...
We walk thousands of steps each day. We walk to do our daily activities, get around, and exercise. Having a problem with walking can make daily life more difficult. The pattern of how you walk is called your gait. A variety of problems can cause an abnormal gait and lead to problems with walking. These include: ...
With treatment, most individuals with myasthenia can significantly improve their muscle weakness. Some case of myasthenia gravis may go into remission temporarily, and muscle weakness may disappear so that medications can be discontinued. In a few cases, the severe weakness of myasthenia gravis may cause respiratory fa...
What are the signs and symptoms of Histidinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinemia. 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 ...
Aspergillosis is a disease caused by a fungus (or mold) called Aspergillus. The fungus is very common in both indoors and outdoors. Most people breathe in the spores of the fungus every day without being affected. But some people get the disease. It usually occurs in people with lung diseases or weakened immune systems...
Cholera is a bacterial infection that causes diarrhea. The cholera bacterium is usually found in water or food contaminated by feces (poop). Cholera is rare in the US. You may get it if you travel to parts of the world with inadequate water treatment and poor sanitation, and lack of sewage treatment. Outbreaks can also...
Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hair...
These resources address the diagnosis or management of 1q21.1 microdeletion: - Gene Review: Gene Review: 1q21.1 Recurrent Microdeletion - Genetic Testing Registry: 1q21.1 recurrent microdeletion These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di...
The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy.
What signs and symptoms are associated with desmoplastic infantile gangliomas? Most infants with DIGs do not have seizures; however, they usually have a bulging fontanelle, rapid head growth, sunset sign, and vomiting.
Harlequin ichthyosis is very rare; its exact incidence is unknown.
During the first phase of the disease, the most common laboratory abnormalities are a low white blood cell count (leukopenia) and a low platelet count (thrombocytopenia). Liver enzymes in the serum may also be mildly elevated. After the onset of neurological disease during the second phase, an increase in protein level...
Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected...
A diagnosis of trichinellosis is made in patients whose signs and symptoms are compatible with trichinellosis, have a positive laboratory test for Trichinella, and who can recall eating raw or undercooked pork or wild game meat. Laboratory diagnosis of Trichinella infection is most often made by a Trichinella anti...
How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. If these strategies are no...
Your heart has four valves. Normally, these valves open to let blood flow through or out of your heart, and then shut to keep it from flowing backward. But sometimes they don't work properly. If they don't, you could have - Regurgitation - when blood leaks back through the valve in the wrong direction - Mitral...
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 most cases, an affected person has one parent with the condition. As the altered ATN1 gene is passed from one generation to the next, the size of the CAG trinucleo...
Angiostrongylus cantonensis There is no specific treatment for A. cantonensis infection. There is some evidence that certain supportive treatments may reduce the severity of headache and the duration of symptoms. Persons with symptoms should consult their health care provider for more information. Angiostrongy...
Summary : Cocaine is a white powder. It can be snorted up the nose or mixed with water and injected with a needle. Cocaine can also be made into small white rocks, called crack. Crack is smoked in a small glass pipe. Cocaine speeds up your whole body. You may feel full of energy, happy, and excited. But then your mo...
Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy. ...
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.
Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condi...
Mutations in the SLC3A1 or SLC7A9 gene cause cystinuria. The SLC3A1 and SLC7A9 genes provide instructions for making the two parts (subunits) of a protein complex that is primarily found in the kidneys. Normally this protein complex controls the reabsorption of certain amino acids, including cystine, into the blood fro...
Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones. The adrenal glands are located just above the kidneys. Adrenal insufficiency can be primary or secondary. Addisons disease, the common term for primary adrenal ins...
Summary : Occupational health problems occur at work or because of the kind of work you do. These problems can include - Cuts, broken bones, sprains, and strains - Loss of limbs - Repetitive motion disorders - Hearing problems caused by exposure to noise - Vision problems - Illness caused by breath...
What are the signs and symptoms of Dens in dente and palatal invaginations? The Human Phenotype Ontology provides the following list of signs and symptoms for Dens in dente and palatal invaginations. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y...
People most at risk for pyelonephritis are those who have a bladder infection and those with a structural, or anatomic, problem in the urinary tract. Urine normally flows only in one directionfrom the kidneys to the bladder. However, the flow of urine may be blocked in people with a structural defect of the urinary tra...
SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosi...
A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass on its own, causing little or no pain. A larger stone ma...
These resources address the diagnosis or management of multiminicore disease: - Gene Review: Gene Review: Multiminicore Disease - Genetic Testing Registry: Minicore myopathy with external ophthalmoplegia - Genetic Testing Registry: Minicore myopathy, antenatal onset, with arthrogryposis - Genetic Testing Registry: ...
Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzy...
Milroy disease is a rare disorder; its incidence is unknown.
TIAs are often warning signs that a person is at risk for a more serious and debilitating stroke. About one-third of those who have a TIA will have an acute stroke some time in the future. Many strokes can be prevented by heeding the warning signs of TIAs and treating underlying risk factors. The most important treatab...
How is factor V deficiency treated? Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery. Individuals with factor V deficiency should discuss treatment options with their primary health care p...
Summary : If you need a mastectomy, you have a choice about whether or not to have surgery to rebuild the shape of the breast. Instead of breast reconstruction, you could choose to wear a breast form that replaces the breast, wear padding inside your bra, or do nothing. All of these options have pros and cons. What is ...
When you're dizzy, you may feel lightheaded or lose your balance. If you feel that the room is spinning, you have vertigo. A sudden drop in blood pressure or being dehydrated can make you dizzy. Many people feel lightheaded if they get up too quickly from sitting or lying down. Dizziness usually gets better by it...
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to the neurological conditions that cause foot drop in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of...
Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers. Fetus...
Summary : Sneezing, sore throat, a stuffy nose, coughing -- everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds. What can you do for your cold or cough symptoms? Besides drinking plenty of fluids and gett...
The NINDS conducts and supports research on neuromuscular disorders such as the familial periodic paralyses. These studies are aimed at increasing knowledge about these disorders and finding ways to prevent, treat, and cure them.
MMPSI is not inherited from a parent and does not run in families. This condition is caused by a new mutation that occurs very early in embryonic development (called a de novo mutation).
These resources address the diagnosis or management of mitochondrial trifunctional protein deficiency: - Baby's First Test - Genetic Testing Registry: Mitochondrial trifunctional protein deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from Medl...
How might common variable immunodeficiency be treated? The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored du...
The standard method for diagnosing the presence of whipworm is by microscopically identifying whipworm eggs in a stool sample. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.
Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can ...
Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connecti...
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.
Respiratory distress syndrome (RDS) is common in premature infants. Thus, doctors usually recognize and begin treating the disorder as soon as babies are born. Doctors also do several tests to rule out other conditions that could be causing an infant's breathing problems. The tests also can confirm tha...