Datasets:
codexist
/
medical_data

Dataset card Data Studio Files
xet
 Community
1
data
stringlengths
25
1.5k
Familial cylindromatosis is a rare disorder; its prevalence is unknown.
Older age can affect the risk of developing chronic lymphocytic leukemia. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you ...
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.
Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen m...
The prognosis for individuals with LNS is poor. Death is usually due to renal failure in the first or second decade of life.
What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored. Routine ana...
These resources address the diagnosis or management of Timothy syndrome: - Gene Review: Gene Review: Timothy Syndrome - Genetic Testing Registry: Timothy syndrome - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes ...
Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. Causes include - Toxic substances, such as pesticides, arsenic, and benzene - Radiation therapy and chemotherapy for cancer - Certain medicines - Infections such as hepatitis, Epste...
The NINDS supports research on genetic disorders, including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.
The standard way to be sure a person is infected with Fasciola is by seeing the parasite. This is usually done by finding Fasciola eggs in stool (fecal) specimens examined under a microscope. More than one specimen may need to be examined to find the parasite. Sometimes eggs are found by examining duodenal contents or ...
Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called...
What causes disseminated peritoneal leiomyomatosis (DPL)? The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal wo...
Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especi...
What causes colpocephaly? Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism an...
MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from th...
Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progress...
Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.
Mutations in the SCN4A gene cause potassium-aggravated myotonia. The SCN4A gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are tri...
Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infe...
Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East.
What causes of accessory navicular bone? The cause of accessory navicular bone is unknown. In some cases, the condition may be related to the development of flatfoot also known as pes planus, in other cases it may be related to repeated foot and ankle sprains.
The signs and symptoms of childhood ependymoma are not the same in every child. Signs and symptoms depend on the following: - The child's age. - Where the tumor has formed. Signs and symptoms may be caused by childhood ependymoma or by other conditions. Check with your child's doctor if your child has...
Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide.
Sporadic LAM is estimated to occur in 2 to 5 per million women worldwide. This condition may be underdiagnosed because its symptoms are similar to those of other lung disorders such as asthma, bronchitis, and chronic obstructive pulmonary disease.
These resources address the diagnosis or management of ZAP70-related severe combined immunodeficiency: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: ZAP70-Related Severe Combined Immunodeficiency - Genetic Testing Registry: Severe combined immunodeficiency, atypical These resour...
Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. This condition is more common in northern Scandinavia, where it occurs in approximately 1 in 10,000 people.
Growth failure is a complication of CKD in which children do not grow as expected. When a child is below the third percentilemeaning 97 percent of children the same age and gender are tallerhe or she has growth failure.1 CKD is kidney disease that does not go away with treatment and tends to get worse over time. ...
Anyone can get hepatitis A, but those more likely to are people who - travel to developing countries - live with someone who currently has an active hepatitis A infection - use illegal drugs, including noninjection drugs - have unprotected sex with an infected person - provide child care ...
Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in ...
Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during p...
These resources address the diagnosis or management of familial exudative vitreoretinopathy: - Gene Review: Gene Review: Familial Exudative Vitreoretinopathy, Autosomal Dominant - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Exudative vitreoretinopathy 1 - Genetic Testing Registry...
Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.
How is intrahepatic cholestasis of pregnancy diagnosed? Intrahepatic cholestasis of pregnancy (ICP) is suspected during pregnancy when symptoms of itching (pruritis) present after 25 weeks of gestation with absence of a rash or underlying maternal liver disease. The diagnosis is typically confirmed with the finding of ...
Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break dow...
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among member...
Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). Later in childhood, some affected individu...
What are the signs and symptoms of Chilaiditi syndrome? The symptoms of Chilaiditi syndrome vary. Chronic recurrent abdominal pain is a common finding. Other symptoms might include nausea, vomiting, constipation, indigestion, difficulty swallowing, and abdominal tenderness, especially in the upper, central area. In som...
How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medication...
What causes aplasia cutis congenita? There is no one cause for all cases of aplasia cutis congenita. The condition is thought to be multifactorial, which means that several factors likely interact to cause the condition. Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that ca...
The incidence of hereditary fructose intolerance is estimated to be 1 in 20,000 to 30,000 individuals each year worldwide.
What are the signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis? Signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) vary but may include: Progressive weakness Stiff muscles Muscle spasms Backache A 'weak' bladder Constipation Rarely HAM/TSP may cau...
Most cases of GIST are not inherited. Sporadic GIST is associated with somatic mutations, which are genetic changes that occur only in the tumor cells and occur during a person's lifetime. In some cases of familial GIST, including those associated with mutations in the KIT and PDGFRA genes, mutations are inherited in ...
- Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. - Common causes of proctitis are sexually transmitted diseases (STDs), non-STD infections, anorectal trauma, ulcerative colitis and Crohns disease, radiation therapy, and antibiotic use. - Treatment of p...
Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruis...
How might dentatorubral-pallidoluysian atrophy (DRPLA) be treated? There is no cure for DRPLA; treatment is generally symptomatic and supportive. Management of signs and symptoms may include: Treatment of seizures with anti-epileptic drugs Treatment of psychiatric problems with appropriate psychotropic medications Ada...
Schindler disease is very rare. Only a few individuals with each type of the disorder have been identified.
Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[3] This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where ...
Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational, and speech therapies; and nutritional, educational, and recreational programs. Bone marrow transplantation is showing promise for a few of the leukodystrophies.
The prognosis for children with LKS varies. Some affected children may have a permanent severe language disorder, while others may regain much of their language abilities (although it may take months or years). In some cases, remission and relapse may occur. The prognosis is improved when the onset of the disorder is a...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to peripheral neuropathies in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Current...
Benign prostatic hyperplasia is the most common prostate problem for men older than age 50. In 2010, as many as 14 million men in the United States had lower urinary tract symptoms suggestive of benign prostatic hyperplasia.1 Although benign prostatic hyperplasia rarely causes symptoms before age 40, the occurrence and...
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.
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.
Char syndrome is rare, although its exact incidence is unknown. Only a few families with this condition have been identified worldwide.
Alternating hemiplegia of childhood is primarily caused by mutations in the ATP1A3 gene. Very rarely, a mutation in the ATP1A2 gene is involved in the condition. These genes provide instructions for making very similar proteins. They function as different forms of one piece, the alpha subunit, of a larger protein compl...
What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is form...
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy h...
Paget's disease is almost always diagnosed by x-ray, although it may be discovered using one of two other tests: an alkaline phosphatase blood test or a bone scan. Paget's disease is often found by accident when a person undergoes one of these tests for another reason. In other cases, a person experiences problems that...
Fanconi anemia is most often 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. Very...
What causes tarsal tunnel syndrome? There are a variety of factors that may cause tarsal tunnel syndrome. These may include repetitive stress with activities, trauma (e.g., crush injury, stretch injury, fractures, ankle dislocations or sprains), flat feet, and excess weight. Additionally, any lesion that occupies space...
Several components of the NIH support research on developmental disorders such as ADHD. Research programs of the NINDS, the National Institute of Mental Health (NIMH), and the National Institute of Child Health and Human Development (NICHD) seek to address unanswered questions about the causes of ADHD, as well as to im...
Mutations in the ARSB gene cause MPS VI. The ARSB gene provides instructions for producing an enzyme called arylsulfatase B, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutatio...
Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is i...
Many people get diverticular disease. Starting at age 40, the chance of getting it increases about every 10 years. About half of people between the ages of 60 and 80 have diverticular disease. Almost everyone over 80 has it.
Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity)...
Your health care provider may start you on a special diet, so you get extra nutrition and calories. High-calorie liquid supplements are often used to give you the extra calories and right amount of vitamins and minerals to keep you healthy. During acute phases of the disease, you may need to receive intravenous nutriti...
How might amniotic band syndrome be treated? Mild cases may not require treatment, however all bands need monitoring as growth occurs to watch for progressive constriction and swelling. Other constrictions may require surgical management; surgical options will vary depending on the abnormality. People with amniotic ban...
Goodpasture syndrome is usually treated with - immunosuppressive medications, such as cyclophosphamide, to keep the immune system from making antibodies - corticosteroid medications to suppress the bodys autoimmune response - plasmapheresisa procedure that uses a machine to remove blood from the body...
When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and...
Phosphorus is a mineral found in many foods. If you have too much phosphorus in your blood, it pulls calcium from your bones. Losing calcium will make your bones weak and likely to break. Also, too much phosphorus may make your skin itch. Foods like milk and cheese, dried beans, peas, colas, nuts, and peanut butter are...
How is Alport syndrome inherited? Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only o...
At first, you will see a few specks of blood, or spots, "floating" in your vision. If spots occur, see your eye care professional as soon as possible. You may need treatment before more serious bleeding or hemorrhaging occurs. Hemorrhages tend to happen more than once, often during sleep. Sometimes, the spots clear wit...
Summary : Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include - Finding genetic diseases in unborn babies - Finding out if people carry a gene for a disease and might pass it on to their childre...
Microphthalmia occurs in approximately 1 in 10,000 individuals.
What are the signs and symptoms of Microphthalmia associated with colobomatous cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia associated with colobomatous cyst. If the information is available, the table below includes how often the symptom is seen in people with...
Familial erythrocytosis is a rare condition; its prevalence is unknown.
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.
Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer.Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doc...
With treatment, most people recover from pinched nerve. However, in some cases, the damage is irreversible.
Is postural orthostatic tachycardia syndrome inherited? Most cases of postural orthostatic tachycardia syndrome (POTS) are not thought to be inherited. Although the condition generally occurs sporadically, some people with POTS do report a family history of orthostatic intolerance (an excessively reduced volume of bloo...
Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes,...
How are mycobacterium malmoense infections contracted? M. Malmoense infection may be acquired by breathing in or ingesting the bacteria, or through trauma, such as an injury or surgical incision. People who have suppressed immune systems are at an increased risk for developing signs and symptoms from these infections.
Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Additionall...
Summary : Antioxidants are man-made or natural substances that may prevent or delay some types of cell damage. Antioxidants are found in many foods, including fruits and vegetables. They are also available as dietary supplements. Examples of antioxidants include - Beta-carotene - Lutein - Lycopene -...
Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals.
These resources address the diagnosis or management of SLC4A1-associated distal renal tubular acidosis: - Genetic Testing Registry: Renal tubular acidosis, distal, autosomal dominant - Genetic Testing Registry: Renal tubular acidosis, distal, with hemolytic anemia These resources from MedlinePlus offer information ...
Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breat...
During the prodrome and vomiting phases of cyclic vomiting syndrome, a person will generally take in little or no nutrition by mouth. During the recovery phase, the person may be quite hungry as soon as the vomiting stops. As eating resumes, a person or his or her family should watch for the return of nausea. In some c...
Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, par...
The prevalence of hereditary folate malabsorption is unknown. Approximately 15 affected families have been reported worldwide. Researchers believe that some infants with this disorder may not get diagnosed or treated, particularly in areas where advanced medical care is not available.
Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person...
What are the signs and symptoms of Potato nose? The Human Phenotype Ontology provides the following list of signs and symptoms for Potato nose. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up...
PDGFRB-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Chromosomal rearrangements that lead to a PDGFRB fusion gene are somatic mutations, which are mutations acquired during a person's lifetime and present only in certain cells. The som...
How might isovaleric acidemia be treated? There is currently no cure for isovaleric acidemia (IVA). Upon diagnosis, immediate treatment is typically necessary in order to prevent metabolic crises and complications that may follow. It is often recommended that affected individuals have a low-leucine / low-protein diet a...
There is no known cure for Guillain-Barr syndrome, but therapies can lessen the severity of the illness and accelerate the recovery in most patients. There are also a number of ways to treat the complications of the disease. Currently, plasmapheresis (also known as plasma exchange) and high-dose immunoglobulin therapy ...
Generally, treatment for individuals with apraxia includes physical, speech,or occupational therapy. If apraxia is a symptom of another disorder, the underlying disorder should be treated.
What are the signs and symptoms of lichen planus pigmentosus? Lichen planus pigmentosus (LPP), a rare form of lichen planus, is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected...
People with 16p11.2 deletion syndrome are missing a sequence of about 600,000 DNA building blocks (base pairs), also written as 600 kilobases (kb), at position p11.2 on chromosome 16. This deletion affects one of the two copies of chromosome 16 in each cell. The 600 kb region contains more than 25 genes, and in many ca...
These resources address the diagnosis or management of aminoacylase 1 deficiency: - Genetic Testing Registry: Aminoacylase 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation...
Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fa...