Contexts stringlengths 0 32.3k | Questions stringlengths 14 191 | Answers stringlengths 6 29k ⌀ |
|---|---|---|
What is (are) Autosomal recessive hyper IgE syndrome ? | Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndro... | |
What are the symptoms of Autosomal recessive hyper IgE syndrome ? | What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Myoepithelial carcinoma ? | Myoepithelial carcinoma is a rare malignant tumor that usually occurs in the salivary glands but can also occur in skin and soft tissues. The name of this cancer comes from the appearance of the tumor cells under the microscope. Approximately 66% of these tumors occur in the parotid gland. The average age of patients i... | |
What are the treatments for Myoepithelial carcinoma ? | How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor. Radiation therapy can be used to reduce the chance that the tumor could return in the same location. Recent studies have shown that neutron-based radiation therapy m... | |
What are the symptoms of Osteogenesis imperfecta type V ? | What are the signs and symptoms of Osteogenesis imperfecta type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Human T-cell leukemia virus type 2 ? | Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by... | |
What are the symptoms of Human T-cell leukemia virus type 2 ? | What are the signs and symptoms of human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) generally causes no signs or symptoms. Although HTLV-2 has not been definitively linked with any specific health problems, scientists suspect that some affected people may later develop neurological prob... | |
What causes Human T-cell leukemia virus type 2 ? | What causes human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. I... | |
How to diagnose Human T-cell leukemia virus type 2 ? | How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. Diagnosis may oc... | |
What are the treatments for Human T-cell leukemia virus type 2 ? | How might human T-cell leukemia virus, type 2 be treated? No cure or treatment exists for human T-cell leukemia virus, type 2 (HTLV-2). Management is focused on early detection and preventing the spread of HTLV-2 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the numb... | |
What are the symptoms of Ankyloblepharon filiforme imperforate anus ? | What are the signs and symptoms of Ankyloblepharon filiforme imperforate anus? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankyloblepharon filiforme imperforate anus. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What are the symptoms of Carnevale syndrome ? | What are the signs and symptoms of Carnevale syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnevale 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 MedlinePlus Medical Diction... | |
What is (are) Ehlers-Danlos syndrome, kyphoscoliosis type ? | Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyph... | |
What are the symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, kyphoscoliosis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type vary but may include: Hyperextensible skin that is fragile and bruises easily Joint hypermobility that leads to frequent dislocations and subluxations (partial disl... | |
What causes Ehlers-Danlos syndrome, kyphoscoliosis type ? | What causes Ehlers-Danlos syndrome, kyphoscoliosis type? Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene. This gene encodes an enzyme that helps process molecules which allow collagen to form stable interactions with one another. Collagen is a protein that provides s... | |
Is Ehlers-Danlos syndrome, kyphoscoliosis type inherited ? | Is Ehlers-Danlos Syndrome, kyphoscoliotic type inherited? Ehlers-Danlos syndrome, kyphoscoliosis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one... | |
How to diagnose Ehlers-Danlos syndrome, kyphoscoliosis type ? | How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficie... | |
What are the treatments for Ehlers-Danlos syndrome, kyphoscoliosis type ? | How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor d... | |
What is (are) Fabry disease ? | Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of sm... | |
What are the symptoms of Fabry disease ? | What are the signs and symptoms of Fabry disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Fabry disease. 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 loo... | |
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 ... | |
What are the treatments for Fabry disease ? | How might Fabry disease be treated? Management for Fabry disease may include treatment of specific signs and symptoms as well as prevention of secondary complications. Treatment for acroparesthesias (pain in the extremities) may include diphenylhydantoin and/or carbamazepine to reduce the frequency and severity of pain... | |
What is (are) Accessory navicular bone ? | An accessory navicular bone is a small bone located in the middle of the foot. It is near the navicular bone, the bone that goes across the foot near the instep. It is a common trait, estimated to be in approximately 2 to 12% of the general population and up to 14% of children. This bone may develop a bump that can cau... | |
What are the symptoms of Accessory navicular bone ? | What are the signs and symptoms of Accessory navicular bone? Accessory navicular bone may cause no symptoms, but in some cases causes pain, tenderness, or irritation on or around the top of the instep. It may also cause the foot to be abnormally positioned, and may limit the normal motion of the foot. Symptoms may wors... | |
What causes Accessory navicular bone ? | 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. | |
What are the treatments for Accessory navicular bone ? | How might accessory navicular bone be treated? If the accessory navicular bone is causing symptoms, activities may be restricted and a softer shoe may be recommended until the symptoms go away. If the symptoms persist a specially and carefully made shoe support may be tried. In children the condition usually resolves o... | |
What are the symptoms of Orofaciodigital syndrome 11 ? | What are the signs and symptoms of Orofaciodigital syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What is (are) Polyglucosan body disease, adult ? | Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may... | |
What are the symptoms of Polyglucosan body disease, adult ? | What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | |
What are the symptoms of Acrofacial dysostosis Catania type ? | What are the signs and symptoms of Acrofacial dysostosis Catania type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrofacial dysostosis Catania type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What are the symptoms of Upington disease ? | What are the signs and symptoms of Upington disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Upington disease. 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 ... | |
What are the symptoms of Renal dysplasia-limb defects syndrome ? | What are the signs and symptoms of Renal dysplasia-limb defects syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia-limb defects syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Catecholaminergic polymorphic ventricular tachycardia ? | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age... | |
What are the symptoms of Catecholaminergic polymorphic ventricular tachycardia ? | What are the signs and symptoms of Catecholaminergic polymorphic ventricular tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for Catecholaminergic polymorphic ventricular tachycardia. If the information is available, the table below includes how often the symptom is seen in p... | |
What are the treatments for Catecholaminergic polymorphic ventricular tachycardia ? | Do all people with catecholaminergic polymorphic ventricular tachycardia require treatment? It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example ... | |
What is (are) Costello syndrome ? | Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have ... | |
What are the symptoms of Costello syndrome ? | What are the signs and symptoms of Costello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Costello 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 MedlinePlus Medical Dictionar... | |
What is (are) Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? | Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. PFAPA is characterized by high fevers lasting three to six day... | |
What are the symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? | What are the signs and symptoms of Periodic fever, aphthous stomatitis, pharyngitis and adenitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Periodic fever, aphthous stomatitis, pharyngitis and adenitis. If the information is available, the table below includes how often the symp... | |
What causes Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? | What causes periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA)? The cause of PFAPA is unknown, although viral or autoimmune causes have been suggested. | |
How to diagnose Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? | How is periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) diagnosed? There are no laboratory tests or imaging procedures specific to the diagnosis of PFAPA. This condition is clinically diagnosed in individuals who have a history of 3 or more episodes of fevers that last up to 5 days and recur ... | |
What are the treatments for Periodic fever, aphthous stomatitis, pharyngitis and adenitis ? | How might periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis be treated? Treatment options that have been successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine. | |
What is (are) 21-hydroxylase deficiency ? | 21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods,... | |
What are the symptoms of 21-hydroxylase deficiency ? | What are the signs and symptoms of 21-hydroxylase deficiency? Symptoms can vary greatly from patient to patient with 21-hydroxylase deficiency, as a result distinct forms of this deficiency have been recognized. Three common forms include classical salt wasting, simple virilizing, and nonclassical. The Human Phenotype ... | |
What causes 21-hydroxylase deficiency ? | What causes salt-wasting, simple virilizing, and nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? Salt-wasting, simple virilizing, and late-onset 21-hydroxylase deficiency are all caused by mutations in the human 21-hydroxylase gene (CYP21A2). | |
Is 21-hydroxylase deficiency inherited ? | How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families? 21-hydroxylase-deficient congenital adrenal hyperplasia has an autosomal recessive pattern of inheritance. In autosomal recessive conditions, both parents carry one copy of a mutated gene for the disorder. They have a 25 percent cha... | |
How to diagnose 21-hydroxylase deficiency ? | Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available? Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity. Click here to view a list of labora... | |
What are the treatments for 21-hydroxylase deficiency ? | 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... | |
What is (are) Pearson syndrome ? | Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kea... | |
What are the symptoms of Pearson syndrome ? | What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson 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 MedlinePlus Medical Dictionary ... | |
What are the symptoms of Marfanoid hypermobility syndrome ? | What are the signs and symptoms of Marfanoid hypermobility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marfanoid hypermobility 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... | |
What is (are) Malaria ? | Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are ... | |
What are the symptoms of Malaria ? | What are the signs and symptoms of Malaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Malaria. 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 the def... | |
What is (are) Olivopontocerebellar atrophy ? | Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. OPCA may also occur in peopl... | |
Is Olivopontocerebellar atrophy inherited ? | Is olivopontocerebellar atrophy inherited? Olivopontocerebellar atrophy (OPCA) may be associated with conditions that are inherited (genetic), or it may occur sporadically. Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The inheritance pattern depends on the sp... | |
How to diagnose Olivopontocerebellar atrophy ? | How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. MRI of the brain may show characteristics of OPCA, such as sp... | |
What is (are) Angelman syndrome ? | Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome ty... | |
What are the symptoms of Angelman syndrome ? | What are the signs and symptoms of Angelman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Angelman 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 MedlinePlus Medical Dictionar... | |
What causes Angelman syndrome ? | What causes Angelman syndrome? Angelman syndrome is caused by a loss of function of a gene called UBE3A on chromosome 15. The exact mechanism that causes this loss of function is complex. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the ... | |
Is Angelman syndrome inherited ? | How might Angelman syndrome be inherited? Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embry... | |
What are the symptoms of Hooft disease ? | What are the signs and symptoms of Hooft disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hooft disease. 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 loo... | |
What is (are) Polycystic ovarian syndrome ? | Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman's menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovari... | |
What are the symptoms of Polycystic ovarian syndrome ? | What are the signs and symptoms of Polycystic ovarian syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic ovarian 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 MedlinePl... | |
What are the symptoms of Varicella virus antenatal infection ? | What are the signs and symptoms of Varicella virus antenatal infection? The Human Phenotype Ontology provides the following list of signs and symptoms for Varicella virus antenatal infection. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Deafness and myopia syndrome ? | Deafness and myopia syndrome is rare condition that affects both hearing and vision. Beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. Affected people also develop severe myopia (nearsightedness) later in infanc... | |
What are the symptoms of Deafness and myopia syndrome ? | What are the signs and symptoms of Deafness and myopia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness and myopia 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 Medline... | |
What are the symptoms of Wells-Jankovic syndrome ? | What are the signs and symptoms of Wells-Jankovic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wells-Jankovic 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 MedlinePlus Medic... | |
What is (are) Andersen-Tawil syndrome ? | Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. ... | |
What are the symptoms of Andersen-Tawil syndrome ? | What are the signs and symptoms of Andersen-Tawil syndrome? Anderson-Tawil syndrome causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm ... | |
How to diagnose Andersen-Tawil syndrome ? | Is genetic testing available for Andersen-Tawil syndrome? Yes, the Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contac... | |
What are the symptoms of Ulna and fibula, hypoplasia of ? | What are the signs and symptoms of Ulna and fibula, hypoplasia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna and fibula, hypoplasia of. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Craniometaphyseal dysplasia, autosomal recessive type ? | Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed... | |
What are the symptoms of Craniometaphyseal dysplasia, autosomal recessive type ? | What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal recessive type? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hy... | |
What causes Craniometaphyseal dysplasia, autosomal recessive type ? | What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communica... | |
What are the treatments for Craniometaphyseal dysplasia, autosomal recessive type ? | How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrow... | |
What is (are) Ornithine transcarbamylase deficiency ? | Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. The signs and symp... | |
What are the symptoms of Ornithine transcarbamylase deficiency ? | What are the signs and symptoms of Ornithine transcarbamylase deficiency? Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperatu... | |
What causes Ornithine transcarbamylase deficiency ? | What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrog... | |
Is Ornithine transcarbamylase deficiency inherited ? | How is ornithine transcarbamylase (OTC) deficiency inherited? Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is t... | |
What is (are) Renal oncocytoma ? | Renal oncocytoma is a benign (noncancerous) growth of the kidney. They generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. Some people with renal oncocytoma will have abdominal or flank pain; blood in the ur... | |
What are the symptoms of Renal oncocytoma ? | What are the signs and symptoms of Renal oncocytoma? Most people with a renal oncocytoma do not have any signs or symptoms. In fact, these tumors are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. In about a third of cases, people with renal oncocytoma wi... | |
What causes Renal oncocytoma ? | What causes a renal oncocytoma? The exact underlying cause of most renal oncocytomas is unknown. However, researchers suspect that acquired (not present at birth) changes in mitochondrial DNA may play a role in the development of some of these tumors. Renal oncocytomas sometimes occur in people with certain genetic syn... | |
Is Renal oncocytoma inherited ? | Is a renal oncocytoma inherited? Most renal oncocytomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, in rare cases, they can occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Both of these conditions... | |
How to diagnose Renal oncocytoma ? | How is renal oncocytoma diagnosed? A diagnosis of renal oncocytoma is often suspected based on imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). However, it can be difficult to differentiate a renal oncocytoma from renal cell carcinoma based on imaging studies alone. Al... | |
What are the treatments for Renal oncocytoma ? | How might renal oncocytoma be treated? Most renal oncocytomas are benign (non-cancerous) and metastasis is very rare. Although many benign tumors do not require treatment unless they are causing unpleasant symptoms, it can be difficult to confidently differentiate a renal oncocytoma from renal cell carcinoma based on d... | |
What is (are) Stuve-Wiedemann syndrome ? | Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temper... | |
What are the symptoms of Stuve-Wiedemann syndrome ? | What are the signs and symptoms of Stuve-Wiedemann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stuve-Wiedemann 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 MedlinePlus Med... | |
What is (are) La Crosse encephalitis ? | La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states. The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). About 80-... | |
What are the symptoms of La Crosse encephalitis ? | What are the symptoms of La Crosse (LAC) encephalitis? Most people infected with LAC encephalitis do not have symptoms. Those that do become ill may initially have fever, headache, vomiting and lethargy (tiredness). Severe cases may develop encephalitis, an inflammation of the brain, which is often accompanied by seizu... | |
What are the treatments for La Crosse encephalitis ? | How might La Crosse (LAC) encephalitis be treated? There is no specific treatment for LAC encephalitis. Severe cases are treated with supportive therapy which may include hospitalization, respiratory support, IV fluids and prevention of other infections.[9633] | |
What is (are) Hallermann-Streiff syndrome ? | Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individu... | |
What are the symptoms of Hallermann-Streiff syndrome ? | What are the signs and symptoms of Hallermann-Streiff syndrome? The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnorm... | |
What causes Hallermann-Streiff syndrome ? | What causes Hallermann-Streiff syndrome? The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual. | |
Is Hallermann-Streiff syndrome inherited ? | How is Hallermann-Streiff syndrome inherited? The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children. Although some have reported it appears... | |
How to diagnose Hallermann-Streiff syndrome ? | Is genetic testing available for Hallermann-Streiff syndrome? While we are not aware of clinical genetic testing for Hallermann-Streiff syndrome, GeneTests lists laboratories offering research genetic testing for this condition. To view information for the laboratories offering research genetic testing for Hallermann-S... | |
What are the treatments for Hallermann-Streiff syndrome ? | How might Hallermann-Streiff syndrome be treated? Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and... | |
What is (are) Warthin tumor ? | Warthin tumor is a benign tumor of the salivary gland. The first symptom is usually a painless, slow-growing bump in front of the ear, on the bottom of the mouth, or under the chin. Warthin tumors may increase in size over time, but few become cancerous. Though the cause is currently unknown, smoking is believed to inc... | |
What are the symptoms of Warthin tumor ? | What are the signs and symptoms of Warthin tumor? Warthin tumor is a benign (noncancerous) tumor of the salivary glands. They most commonly arise in the parotid glands, the largest salivary glands which are located in each cheek above the jaw in front of the ears. Approximately 5-14% of cases are bilateral and 12-20% o... | |
What causes Warthin tumor ? | What causes Warthin tumor? The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor. | |
How to diagnose Warthin tumor ? | How is Warthin tumor diagnosed? A diagnosis of Warthin tumor is often suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis and rule out other conditions that cause similar features: X-rays of the salivary gland (called a ptyalogram or sia... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.