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- Hemorrhoids are swollen and inflamed veins around the anus or in the lower rectum. - Hemorrhoids are not dangerous or life threatening, and symptoms usually go away within a few days. - A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in...
The inheritance of IMAGe syndrome is complex. The condition is described as having an autosomal dominant inheritance pattern because one copy of the altered CDKN1C gene in each cell is sufficient to cause the disorder. However, because this gene is paternally imprinted, IMAGe syndrome results only when the mutation is ...
An arrhythmia can occur if the electrical signals that control the heartbeat are delayed or blocked. This can happen if the special nerve cells that produce electrical signals don't work properly. It also can happen if the electrical signals don't travel normally through the heart. An arrhythmia also c...
The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nation's leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facil...
These resources address the diagnosis or management of Snyder-Robinson syndrome: - Gene Review: Gene Review: Snyder-Robinson Syndrome - Genetic Testing Registry: Snyder Robinson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic...
What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. 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 Medic...
Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition worldwide. The largest single group of affected individuals (about 100 people) lives in an area of southern Ecuador.
There is no cure for NBIA, nor is there a standard course of treatment. Treatment is symptomatic and supportive, and may include physical or occupational therapy, exercise physiology, and/or speech pathology. Many medications are available to treat the primary symptoms of dystonia and spasticity, including oral medicat...
Most cases of multiple endocrine neoplasia type 1 are considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the MEN1 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new mu...
Each year, 48 million people in the U.S. get sick from contaminated food. Common culprits include bacteria, parasites and viruses. Symptoms range from mild to serious. They include - Upset stomach - Abdominal cramps - Nausea and vomiting - Diarrhea - Fever - Dehydration Harmful bacteria...
These resources address the diagnosis or management of Huntington disease: - Gene Review: Gene Review: Huntington Disease - Genetic Testing Registry: Huntington's chorea - Huntington's Disease Society of America: HD Care - MedlinePlus Encyclopedia: Huntington Disease - University of Washington Medical Center: Test...
These resources address the diagnosis or management of molybdenum cofactor deficiency: - Genetic Testing Registry: Combined molybdoflavoprotein enzyme deficiency - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group A - Genetic Testing Registry: Molybdenum cofactor deficiency, complementa...
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.
Large granular lymphocyte (LGL) leukemia is a rare cancer of a type of white blood cells called lymphocytes. LGL leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in ...
Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful i...
How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition.
Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical liter...
The prognosis for those with Cushing's syndrome varies depending on the cause of the disease. Most cases of Cushing's syndrome can be cured. Many individuals with Cushing's syndrome show significant improvement with treatment, although some may find recovery complicated by various aspects of the causative illness. Some...
The NINDS supports research on brain and spinal cord disorders that can cause spasticity. The goals of this research are to increase scientific understanding about these disorders and to find ways to prevent, treat, and cure them.
MDS affects nearly 1 in 20,000 people in the United States. It is thought that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of MDS, which occur more frequently in men than women, 5q- syndrome is more than twice as common in women.
15q13.3 microdeletion syndrome is a type of contiguous gene deletion syndrome. Individuals with this microdeletion may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate mental retardation, l...
What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. Research to fu...
MRI imaging is often used to evaluate individuals with these symptoms, and can be used to diagnose the location of the tethering, lower than normal position of the conus medullaris, or presence of a tumor or fatty mass (lipoma). In children, early surgery is recommended to prevent further neurological deterioration. Re...
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. Other cases result from new mutations in the gene and occur in people with no history of the disor...
Having a weakened immune system may increase the risk of developing primary CNS lymphoma. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor...
Mutations in the FLCN gene cause Birt-Hogg-Dub syndrome. This gene provides instructions for making a protein called folliculin. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors prevent cells from growing and dividing too rapidly or in an u...
These resources address the diagnosis or management of intestinal pseudo-obstruction: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Intestinal pseudoobstruction neuronal chronic idiopathic X-linked - Genetic Testing Registry: Natal teeth, intestinal pseudoobstruction and patent ductus - Genetic Te...
The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic a...
How might frontal fibrosing alopecia be treated? Unfortunately, there is currently no cure for frontal fibrosing alopecia (FFA). Because the hair loss associated with this condition is thought to be caused by inflammation of hair follicles, treatment often involves using anti-inflammatory medications or ointments, such...
This condition occurs in an estimated 1 in 50,000 to 100,000 people.
The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before age 1. However, in rare cases, children with hydranencephaly may survive for several years or more.
Having ED can cause you to feel depressed or anxious. ED may also cause low self-esteem. When you have ED, you may not have a satisfying sex life. You may not feel as close with your sexual partner, which may strain your relationship. See Your Doctor if You Have Erectile Dysfunction, ...
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is a syndrome that is characterized by the presence of polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly, and hydrocephalus. The cause of the condition is currently unknown.
Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum...
MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males.
Summary : Most men need to pay more attention to their health. Compared to women, men are more likely to - Smoke and drink - Make unhealthy or risky choices - Put off regular checkups and medical care There are also health conditions that only affect men, such as prostate cancer and low testosterone. ...
Summary : Blood sugar, or glucose, is the main sugar found in your blood. It comes from the food you eat, and is your body's main source of energy. Your blood carries glucose to all of your body's cells to use for energy. Diabetes is a disease in which your blood sugar levels are too high. Over time, having too much...
Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.
Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. The bilirubin-UGT enzyme perform...
Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis). Glutaric acidemia type II usually ap...
Mutations in the VPS13B gene (frequently called the COH1 gene) cause Cohen syndrome. The function of the protein produced from the VPS13B gene is unknown; however, researchers suggest it may be involved in sorting and transporting proteins inside the cell. Most mutations in the VPS13B gene are believed to prevent cells...
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.
What is the treatment for Prinzmetal's variant angina? The goal of treatment is to control chest pain and to prevent heart attack. Nitroglycerin or other nitrate medications may be prescribed to relieve chest pain. Calcium-channel blockers may be chronically needed. These medications widen the blood vessels to improve ...
These resources address the diagnosis or management of OSMED: - Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti...
People with diabetes should - do aerobic activities, such as brisk walking, which use the bodys large muscles to make the heart beat faster. The large muscles are those of the upper and lower arms and legs and those that control head, shoulder, and hip movements. - do activities to strengthen muscles and bone, such a...
The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnorm...
How might pachyonychia congenita be treated? There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. Some affected people may also require aids...
Is there a cure or treatment for autosomal recessive polycystic kidney disease? Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition b...
Shapiro syndrome is a rare disease affecting about 50 people worldwide that is typically characterized by recurrent episodes of excessive sweating and hypothermia and the agenesis of the corpus callosum. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and...
Chronic neutrophilic leukemia is a disease in which too many blood stem cells become a type of white blood cell called neutrophils. Neutrophils are infection -fighting blood cells that surround and destroy dead cells and foreign substances (such as bacteria). The spleen and liver may swell because of the extra neutroph...
Anyone can get a foodborne illness. However, some people are more likely to develop foodborne illnesses than others, including - infants and children - pregnant women and their fetuses - older adults - people with weak immune systems These groups also have a greater risk of developi...
These resources address the diagnosis or management of antiphospholipid syndrome: - Genetic Testing Registry: Antiphospholipid syndrome - Hughes Syndrome Foundation: Diagnosis: How To Get Tested - Hughes Syndrome Foundation: Treatment and Medication: Current Advice and Information - National Heart Lung and Blood In...
Myopathy with deficiency of iron-sulfur cluster assembly enzyme is caused by mutations in the ISCU gene. This gene provides instructions for making a protein called the iron-sulfur cluster assembly enzyme. As its name suggests, this enzyme is involved in the formation of clusters of iron and sulfur atoms (Fe-S clusters...
Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often i...
These resources address the diagnosis or management of tubular aggregate myopathy: - Genetic Testing Registry: Myopathy with tubular aggregates These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabi...
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young ch...
Age-related macular degeneration, or AMD, is a disease that blurs the sharp, central vision you need for straight-ahead activities such as reading, sewing, and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. AMD causes no pain.
Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningo...
What causes spastic diplegia cerebral palsy? Spastic diplegia cerebral palsy occurs when the portion of the brain that controls movement is damaged or develops abnormally. This usually occurs before birth, but can happen at any time while the brain is still developing (usually before age 2). In many cases, the exact un...
Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of...
These resources address the diagnosis or management of SADDAN: - Gene Review: Gene Review: Achondroplasia - Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans These resources from MedlinePlus offer information about the...
Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features. Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches f...
These resources address the diagnosis or management of chordoma: - Chordoma Foundation: Treatment - Duke Spine Center - Genetic Testing Registry: Chordoma - Massachusetts General Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos...
These resources address the diagnosis or management of Brody myopathy: - Genetic Testing Registry: Brody myopathy - New York Presbyterian Hospital: Myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surg...
In the United States, bladder cancer is the fourth most common type of cancer in men and the ninth most common cancer in women. About 45,000 men and 17,000 women are diagnosed with bladder cancer each year.
Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no h...
Mutations in the VCP gene cause IBMPFD. The VCP gene provides instructions for making an enzyme called valosin-containing protein, which has a wide variety of functions within cells. One of its most critical jobs is to help break down (degrade) proteins that are abnormal or no longer needed. Mutations in the VCP gene ...
Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA...
Summary : A tsunami is a series of huge ocean waves created by an underwater disturbance. Causes include earthquakes, landslides, volcanic eruptions, or meteorites--chunks of rock from space that strike the surface of Earth. A tsunami can move hundreds of miles per hour in the open ocean. It can smash into land with wa...
Most children hear and listen from the moment they are born. They learn to talk by imitating the sounds around them and the voices of their parents and caregivers. But about 2 or 3 out of every 1,000 children in the United States are born deaf or hard-of-hearing. More lose their hearing later during childhood. Babie...
Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early c...
Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to ...
These resources address the diagnosis or management of microvillus inclusion disease: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Congenital microvillous atrophy - Great Ormond Street Hospital for Children (UK): Intestinal Assessment - International Microvillus Inclusion Disease Patient Registry...
Summary : Impaired driving is dangerous. It's the cause of more than half of all car crashes. It means operating a motor vehicle while you are affected by - Alcohol - Legal or illegal drugs - Sleepiness - Distractions, such as using a cell phone or texting - Having a medical condition which affects yo...
The exact prevalence of dyskeratosis congenita is unknown. It is estimated to occur in approximately 1 in 1 million people.
Is cold urticaria inherited? Cold urticaria is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition.
There is no standard specific treatment for the disease. Patients receive supportive therapy, which consists of balancing the patient’s fluid and electrolytes, maintaining oxygen status and blood pressure, and treatment for any complications. Mortality in hospitalized patients ranges from 1-20%.
The prevalence of GACI has been estimated to be about 1 in 391,000. At least 200 affected individuals have been described in the medical literature.
Diabetes is a disorder of metabolismthe way our bodies use digested food for energy. Most of the food we eat is broken down into glucose, the form of sugar in the blood. Glucose is the body's main source of fuel. After digestion, glucose enters the bloodstream. Then glucose goes to cells throughout the...
Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be ...
Some people may be more likely than others to have palpitations. People at increased risk include those who: Have anxiety or panic attacks, or people who are highly stressed Take certain medicines or stimulants Have certain medical conditions that aren't related to hea...
What are the signs and symptoms of multicentric Castleman disease? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. They can vary but may include: Fever Enlarged lymph nodes Night sweats Loss of appetite and weight loss Weakness and fatigu...
There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of MLD and in clinical trials.
Smoking is the main risk factor for P.A.D. Your risk of P.A.D. increases four times if you smoke. Smoking also raises your risk for other diseases, such as coronary heart disease (CHD). On average, smokers who develop P.A.D. have symptoms 10 years earlier than nonsmokers who develop P.A.D. As you get older, your risk f...
Triosephosphate isomerase deficiency is likely a rare condition; approximately 40 cases have been reported in the scientific literature.
How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth...
These resources address the diagnosis or management of systemic scleroderma: - Cedars-Sinai Medical Center - Genetic Testing Registry: Scleroderma, familial progressive - University of Maryland Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health co...
The most common symptoms of autoimmune hepatitis are - fatigue - joint pain - nausea - loss of appetite - pain or discomfort over the liver - skin rashes - dark yellow urine - light-colored stools - jaundice, or yellowing of the skin and whites of the eyes Symptoms of autoimmun...
Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported.
These resources address the diagnosis or management of hepatic lipase deficiency: - Genetic Testing Registry: Hepatic lipase deficiency - MedlinePlus Encyclopedia: Cholesterol Testing and Results - MedlinePlus Encyclopedia: Triglyceride Level These resources from MedlinePlus offer information about the diagnosis a...
The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia.
Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. The following procedures may be used: - Skin exam: A doctor or nurse checks the skin for bumps or spots that look abnormal in color, size, shape, or texture. - Skin biopsy : All o...
Summary : Many factors affect your health. Some you cannot control, such as your genetic makeup or your age. But you can make changes to your lifestyle. By taking steps toward healthy living, you can help reduce your risk of heart disease, cancer, stroke and other serious diseases: - Get the screening tests you n...
If you are pregnant, an infection can be more than just a problem for you. Some infections can be dangerous to your baby. You can help yourself avoid infections: - Don't eat raw or undercooked meat - Don't share food or drinks with other people - Wash your hands frequently - Don't empty cat litter. Cats ...
Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A sm...
Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause juvenile hyaline fibromatosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basemen...
Summary : Shots may hurt a little, but the diseases they can prevent are a lot worse. Some are even life-threatening. Immunization shots, or vaccinations, are essential. They protect against things like measles, mumps, rubella, hepatitis B, polio, tetanus, diphtheria, and pertussis (whooping cough). Immunizations are i...
Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.
The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule...
These resources address the diagnosis or management of genitopatellar syndrome: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Genitopatellar syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te...