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What is (are) Griscelli syndrome ? | Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 invol... | [
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How many people are affected by spondylocarpotarsal synostosis syndrome ? | Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence is unknown. At least 25 affected individuals have been identified. | [
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What is (are) Hereditary diffuse leukoencephalopathy with spheroids ? | Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroi... | [
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What are the treatments for Diverticular Disease ? | A health care provider may treat the symptoms of diverticulosis with a high-fiber diet or fiber supplements, medications, and possibly probiotics. Treatment for diverticular disease varies, depending on whether a person has diverticulitis or diverticular bleeding.
Diverticulosis
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What are the treatments for thiamine-responsive megaloblastic anemia syndrome ? | These resources address the diagnosis or management of thiamine-responsive megaloblastic anemia syndrome: - Gene Review: Gene Review: Thiamine-Responsive Megaloblastic Anemia Syndrome - Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness - MedlinePlu... | [
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How to prevent Coronary Microvascular Disease ? | No specific studies have been done on how to prevent coronary microvascular disease.
Researchers dont yet know how or in what way preventing coronary microvascular disease differs from preventing coronary heart disease. Coronary microvascular disease affects the tiny coronary arteries; coronary heart d... | [
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What are the symptoms of Macular dystrophy, atypical vitelliform ? | What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | [
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How many people are affected by Paget disease of bone ? | Classic Paget disease of bone occurs in approximately 1 percent of people older than 40 in the United States. Scientists estimate that about 1 million people in this country have the disease. It is most common in people of western European heritage. Early-onset Paget disease of bone is much rarer. This form of the dis... | [
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Who is at risk for Pulmonary Embolism? ? | Pulmonary embolism (PE) occurs equally in men and women. The risk increases with age. For every 10 years after age 60, the risk of having PE doubles.
Certain inherited conditions, such as factor V Leiden, increase the risk of blood clotting and PE.
Major Risk Factors
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What is (are) Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection) ? | Angiostrongylus cantonensis is a parasitic worm of rats. It is also called the rat lungworm. The adult form of the parasite is found only in rodents. Infected rats pass larvae of the parasite in their feces. Snails and slugs get infected by ingesting the larvae. These larvae mature in snails and slugs but do not become... | [
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How many people are affected by hepatic veno-occlusive disease with immunodeficiency ? | VODI appears to be a rare disorder; approximately 20 affected families have been reported worldwide. Most people diagnosed with the condition have been of Lebanese ancestry. However, the disorder has also been identified in several individuals with other backgrounds in the United States and Italy. | [
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What are the treatments for ethylmalonic encephalopathy ? | These resources address the diagnosis or management of ethylmalonic encephalopathy: - Baby's First Test - Genetic Testing Registry: Ethylmalonic encephalopathy - MedlinePlus Encyclopedia: Skin discoloration - bluish These resources from MedlinePlus offer information about the diagnosis and management of various he... | [
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What is the outlook for Tardive Dyskinesia ? | Symptoms of tardive dyskinesia may remain long after discontinuation of neuroleptic drugs. In many cases, the symptoms stop spontaneously, but in some cases they may persist indefinitely. | [
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How many people are affected by glycogen storage disease type VII ? | GSDVII is thought to be a rare condition; more than 100 cases have been described in the scientific literature. | [
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What causes What I need to know about Hirschsprung Disease ? | People with HD have constipation because they lack nerve cells in a part or all of the large intestine. The nerve cells signal muscles in the large intestine to push stool toward the anus. Without a signal to push stool along, stool will remain in the large intestine.
How severe HD is depends on how mu... | [
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How many people are affected by Lenz microphthalmia syndrome ? | Lenz microphthalmia syndrome is a very rare condition; its incidence is unknown. It has been identified in only a few families worldwide. | [
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What are the symptoms of X-linked lissencephaly with abnormal genitalia ? | What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. If the information is available, the table below includes how often the symptom is seen in people with thi... | [
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Is acute promyelocytic leukemia inherited ? | Acute promyelocytic leukemia is not inherited but arises from a translocation in the body's cells that occurs after conception. | [
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what are public health agencies doing to prevent or control yersiniosis for Yersinia ? | The Centers for Disease Control and Prevention (CDC) monitors the frequency of Y. enterocolitica infections through the foodborne disease active surveillance network (FoodNet). In addition, CDC conducts investigations of outbreaks of yersiniosis to control them and to learn more about how to prevent these infections. C... | [
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Is Chromosome 4q deletion inherited ? | How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this delet... | [
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How many people are affected by Heart Failure ? | Approximately 5 million people in the United States have heart failure. It contributes to 300,000 deaths each year. It is the number one cause of hospitalizations for people over the age of 65. | [
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What is (are) renal coloboma syndrome ? | Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when th... | [
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How to diagnose Viral Gastroenteritis ? | Viral gastroenteritis is usually diagnosed based on symptoms alone. People who have symptoms that are severe or last for more than a few days may want to see a health care provider for additional tests. A health care provider may ask for a stool sample to test for rotavirus or norovirus or to rule out bacteria or paras... | [
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Is X-linked juvenile retinoschisis inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | [
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What are the treatments for Mowat-Wilson syndrome ? | These resources address the diagnosis or management of Mowat-Wilson syndrome: - Gene Review: Gene Review: Mowat-Wilson Syndrome - Genetic Testing Registry: Mowat-Wilson syndrome - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from MedlinePlus offer information about the diagnosis and management ... | [
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How many people are affected by mitochondrial complex III deficiency ? | The prevalence of mitochondrial complex III deficiency is unknown, although the condition is thought to be rare. | [
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What are the symptoms of Lethal congenital contracture syndrome 1 ? | What are the signs and symptoms of Lethal congenital contracture syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal congenital contracture syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | [
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What are the treatments for catecholaminergic polymorphic ventricular tachycardia ? | These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia: - Cleveland Clinic: Management of Arrhythmias - Gene Review: Gene Review: Catecholaminergic Polymorphic Ventricular Tachycardia - Genetic Testing Registry: Catecholaminergic polymorphic ventricular tachycard... | [
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Is Fabry disease inherited ? | How is Fabry disease inherited? Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome. In males (who have only one X chromosome), one mutated copy of the gene is enough to cause symptoms of the condition. Because females have two copies of ... | [
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What are the symptoms of Spinocerebellar ataxia X-linked type 3 ? | What are the signs and symptoms of Spinocerebellar ataxia X-linked type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia X-linked type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | [
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What is (are) Jervell Lange-Nielsen syndrome ? | Jervell Lange-Nielsen syndrome is a form of long QT syndrome. Symptoms include deafness from birth, arrhythmia, fainting, and sudden death. There are two different types, Jervell Lange-Nielsen syndrome type 1 and 2. It is inherited in an autosomal recessive fashion. | [
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Is alkaptonuria inherited ? | 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. | [
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What are the treatments for multiple endocrine neoplasia ? | These resources address the diagnosis or management of multiple endocrine neoplasia: - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 1 - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 2 - Genetic Testing Registry: Familial medullary thyroid carcinoma - Genetic Testing Registry: Multiple e... | [
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What are the treatments for Charcot-Marie-Tooth disease type 2F ? | How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational... | [
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What is (are) L1 syndrome ? | 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... | [
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Do you have information about Radiation Therapy | Summary : Radiation therapy is a cancer treatment. It uses high doses of radiation to kill cancer cells and stop them from spreading. About half of all cancer patients receive it. The radiation may be external, from special machines, or internal, from radioactive substances that a doctor places inside your body. The ty... | [
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What are the symptoms of Spastic paraplegia 14 ? | What are the signs and symptoms of Spastic paraplegia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 14. 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 D... | [
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What is (are) Skin Cancer ? | Once cancer has been found, the doctor will need to determine the extent, or stage, of the cancer. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps you and the doctor plan ... | [
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What is (are) Czech dysplasia ? | Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. People with Czech dysplasia ... | [
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Is congenital sucrase-isomaltase deficiency inherited ? | 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. | [
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What are the symptoms of Glomerulopathy with fibronectin deposits 2 ? | What are the signs and symptoms of Glomerulopathy with fibronectin deposits 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 2. If the information is available, the table below includes how often the symptom is seen in people with this condit... | [
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What are the genetic changes related to frontometaphyseal dysplasia ? | Mutations in the FLNA gene cause frontometaphyseal dysplasia. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called acti... | [
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what research (or clinical trials) is being done for Hydromyelia ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to hydromyelia in its clinics and laboratories at The National Institutes of Health (NIH) and supports additional research through grants to major research institutions across the country. Much of this research focuses on find... | [
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What is the outlook for Merkel Cell Carcinoma ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor and whether it has spread to the lymph nodes or other parts of the body). - Where the cancer is in t... | [
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What causes Hypophosphatemic rickets ? | What causes hypophosphatemic rickets? Hypophosphatemic rickets is almost always hereditary and may be caused by mutations in any of several genes. The specific gene involved determines the way it is inherited. Most commonly, it is caused by a mutation in the PHEX gene. Other genes that can be responsible for the condit... | [
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Is Fanconi anemia inherited ? | 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... | [
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What are the symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis ? | What are the signs and symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract-microcephaly-failure to thrive-kyphoscoliosis. If the information is available, the table below includes how often the symptom is seen in... | [
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What causes Primary Biliary Cirrhosis ? | The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. An autoimmune disease is a disorder in which the bodys immune syste... | [
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What are the genetic changes related to mevalonate kinase deficiency ? | Mutations in the MVK gene cause mevalonate kinase deficiency. The MVK gene provides instructions for making the mevalonate kinase enzyme. This enzyme is involved in the production of cholesterol, which is later converted into steroid hormones and bile acids. Steroid hormones are needed for normal development and reprod... | [
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What causes Asbestos-Related Lung Diseases ? | Significant exposure to asbestos fibers causes asbestos-related lung diseases. "Significant" usually means you were exposed for at least several months to visible dust from the fibers.
Asbestos fibers are very small. When you breathe in, they can get stuck deep in your lungs. The fibers remain in your ... | [
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What is (are) McCune-Albright syndrome ? | McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesio... | [
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What are the symptoms of Alpha-ketoglutarate dehydrogenase deficiency ? | What are the signs and symptoms of Alpha-ketoglutarate dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-ketoglutarate dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this co... | [
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What is (are) Cough ? | A cough is a natural reflex that protects your lungs. Coughing helps clear your airways of lung irritants, such as smoke and mucus (a slimy substance). This helps prevent infections. A cough also can be a symptom of a medical problem.
Prolonged coughing can cause unpleasant side effects, such as chest ... | [
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How many people are affected by hypochondrogenesis ? | Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 newborns. | [
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What are the genetic changes related to craniofacial microsomia ? | It is unclear what genes are involved in craniofacial microsomia. This condition results from problems in the development of structures in the embryo called the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six pairs of pharyngeal arches give rise to the muscles, ar... | [
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What are the treatments for Menkes Disease ? | Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive. | [
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What is the outlook for Wilson Disease ? | Early onset of the disease may foretell a worse prognosis than later onset. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, however, WD can cause brain damage, liver failure, and death. The disease requires lifelon... | [
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What are the symptoms of Osteopetrosis autosomal dominant type 1 ? | What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | [
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Is Hashimoto thyroiditis inherited ? | The inheritance pattern of Hashimoto thyroiditis is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto thyroiditis or another autoimmune disorder likely increases a person's risk of developing the condi... | [
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How many people are affected by pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. This disorder appears to be much more common in some Algonkian Indian tribes in eastern Canada. | [
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What are the symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta ? | What are the signs and symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with dentinogenesis imperfecta. If the information is available, the table below includes how often the sympto... | [
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What are the treatments for Yellow nail syndrome ? | How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questio... | [
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What causes Hereditary lymphedema type II ? | What causes hereditary lymphedema type II? The cause of hereditary lymphedema type II is unknown. The condition is thought to be genetic because it tends to run in families. Researchers have studied many genes associated with the lymphatic system; however, to date, no specific genetic change has been associated with th... | [
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What is (are) Miller-Dieker syndrome ? | Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by... | [
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How to prevent Cardiogenic Shock ? | The best way to prevent cardiogenic shock is to lower your risk for coronary heart disease (CHD) and heart attack. (For more information, go to the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart.")
If you already have CHD, its important to get ongoing treatment from a doctor... | [
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How to diagnose Nephrotic Syndrome in Adults ? | Urine samples are taken to diagnose people suspected of having nephrotic syndrome.
Nephrotic syndrome is diagnosed when large amounts of protein are found in the urine. The blood protein albumin makes up much of the protein that is lost, though many other important proteins are also lost in nephrotic s... | [
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Is primary hyperoxaluria inherited ? | 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. | [
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What is (are) Nuclear Gene-Encoded Leigh Syndrome ? | Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, ... | [
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Who is at risk for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis? ? | Acanthamoeba keratitis
Acanthamoeba keratitis is a rare disease that can affect anyone, but is most common in individuals who wear contact lenses. In the United States, an estimated 85% of cases occur in contact lens users. The incidence of the disease in developed countries is approximately one to 33 cases per ... | [
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How to diagnose Mastocytic enterocolitis ? | How is mastocytic enterocolits diagnosed? Mastocytic enterocolitis is diagnosed after an endoscopic procedure in which the doctor takes samples of tissues (biopsies) from the lining of the intestines. The tissue is then sent to a pathologist who looks at it under the microscope. Mast cells may be hard to see on biopsie... | [
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What to do for Lactose Intolerance ? | - Lactose is a sugar found in milk and milk products. - Lactose intolerance is a condition in which people have digestive symptomssuch as bloating, diarrhea, and gasafter eating or drinking milk or milk products. - A health care provider makes a diagnosis of lactose intolerance based on medical, family, and diet hist... | [
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What are the symptoms of Osteopetrosis autosomal recessive 3 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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What are the genetic changes related to branchiootorenal/branchiootic syndrome ? | Mutations in three genes, EYA1, SIX1, and SIX5, have been reported in people with BOR/BO syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 gene mutations are a much less common cause of the disorder. SIX5 gene mutations have been found in a small number of people with BOR s... | [
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How many people are affected by aromatic l-amino acid decarboxylase deficiency ? | AADC deficiency is a rare disorder. Only about 100 people with this condition have been described in the medical literature worldwide; about 20 percent of these individuals are from Taiwan. | [
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what research (or clinical trials) is being done for Lambert-Eaton Myasthenic Syndrome ? | The NINDS supports research on neuromuscular disorders such as LEMS with the ultimate goal of finding ways to treat, prevent, and cure them. | [
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What are the treatments for piebaldism ? | These resources address the diagnosis or management of piebaldism: - Genetic Testing Registry: Partial albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling ... | [
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What is (are) Parasites - Zoonotic Hookworm ? | 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. | [
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what research (or clinical trials) is being done for Childhood Astrocytomas ? | New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Other drug therapy Lenal... | [
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What are the genetic changes related to Pol III-related leukodystrophy ? | Pol III-related leukodystrophy is caused by mutations in the POLR3A or POLR3B gene. These genes provide instructions for making the two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA poly... | [
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What are the symptoms of Richieri Costa Da Silva syndrome ? | What are the signs and symptoms of Richieri Costa Da Silva syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Richieri Costa Da Silva syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | [
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What are the treatments for cholesteryl ester storage disease ? | These resources address the diagnosis or management of cholesteryl ester storage disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency - MedlinePlus Encyclopedia: Atherosclerosis - MedlinePlus Encyclopedia: Cirrhosis These resources from MedlinePlus offer information about the diagnosis and managem... | [
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what research (or clinical trials) is being done for Pompe Disease ? | The National Institute of Neurological Disorders and Stroke (NINDS) supports Pompe research through grants to major research institutions across the country. Research related to Pompe disease is conducted in one of the laboratories of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at ... | [
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What are the symptoms of Lymphocytic vasculitis ? | What are the signs and symptoms of Lymphocytic vasculitis? Lymphocytic vasculitis can cause a number of different symptoms. Hives, red or purplish discolored patches, a bump (nodule), or an open sore (ulcer) have all been described as symptoms of this condition. The size, location, and severity of symptoms varies wid... | [
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What is (are) SAPHO syndrome ? | SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on... | [
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What are the treatments for Gitelman syndrome ? | These resources address the diagnosis or management of Gitelman syndrome: - Genetic Testing Registry: Familial hypokalemia-hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitati... | [
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What is (are) Leukodystrophy ? | A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to p... | [
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What are the symptoms of L-arginine:glycine amidinotransferase deficiency ? | What are the signs and symptoms of L-arginine:glycine amidinotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for L-arginine:glycine amidinotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with... | [
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What is (are) Edema ? | Edema means swelling caused by fluid in your body's tissues. It usually occurs in the feet, ankles and legs, but it can involve your entire body. Causes of edema include - Eating too much salt - Sunburn - Heart failure - Kidney disease - Liver problems from cirrhosis - Pregnancy - Problems wi... | [
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What are the symptoms of Cirrhosis ? | Many people with cirrhosis have no symptoms in the early stages of the disease. However, as the disease progresses, a person may experience the following symptoms:
- fatigue, or feeling tired - weakness - itching - loss of appetite - weight loss - nausea - bloating of the abdomen from ascitesa bu... | [
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Is carbamoyl phosphate synthetase I deficiency inherited ? | 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. | [
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What is (are) Neurological Consequences of Cytomegalovirus Infection ? | Cytomegalovirus (CMV) is a virus found throughout the world that infects between 50 to 80 percent of all adults in the United States by the age of 40. CMV is in the same family of viruses that causes cold sores (herpes simplex virus), infectious mononucleosis (Epstein-Barr virus), and chickenpox/shingles (varicella zos... | [
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How many people are affected by mucolipidosis III gamma ? | Mucolipidosis III gamma 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. | [
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What is (are) Wolff-Parkinson-White syndrome ? | Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). The heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. A specialized cluster of cells called th... | [
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What are the symptoms of Craniosynostosis, anal anomalies, and porokeratosis ? | What are the signs and symptoms of Craniosynostosis, anal anomalies, and porokeratosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis, anal anomalies, and porokeratosis. If the information is available, the table below includes how often the symptom is seen in peopl... | [
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What is (are) Hypopituitarism ? | Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland. The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin, and... | [
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What are the symptoms of Sprengel deformity ? | What are the signs and symptoms of Sprengel deformity? Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both... | [
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What are the treatments for Schimke immuno-osseous dysplasia ? | These resources address the diagnosis or management of Schimke immuno-osseous dysplasia: - Gene Review: Gene Review: Schimke Immunoosseous Dysplasia - Genetic Testing Registry: Schimke immunoosseous dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health con... | [
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Is mitochondrial trifunctional protein deficiency inherited ? | 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. | [
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How many people are affected by dopamine beta-hydroxylase deficiency ? | Dopamine -hydroxylase deficiency is a very rare disorder. Fewer than 20 affected individuals, all of Western European descent, have been described in the scientific literature. | [
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What is (are) Aromatic L-amino acid decarboxylase deficiency ? | Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system. Individuals affected by this condition often have severe movement disorders, abnormal eye movements, autonomic symptoms, and neurological impairment. The c... | [
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