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What are the symptoms of Myelomeningocele ? | What are the signs and symptoms of myelomeningocele? A baby born with a myelomeningocele may have a sac sticking out of the mid to lower back that the doctor cannot see through when shining a light behind it. Symptoms of this condition include:[5182] Loss of bladder or bowel control Partial or complete lack of sensatio... | Myelomeningocele |
What are the treatments for Myelomeningocele ? | How might myelomeningocele be treated? A child with meningomyelocele usually has surgery to close the myelomenigocele shortly after birth. This prevents infections and helps save the spinal cord from more damage.[5181] Children who also have hydrocephalus may need a ventricular peritoneal shunt placed. This will help d... | Myelomeningocele |
What is (are) Autoimmune myocarditis ? | Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shor... | Autoimmune myocarditis |
What are the symptoms of Curry Jones syndrome ? | What are the signs and symptoms of Curry Jones syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Curry Jones 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 Dic... | Curry Jones syndrome |
What are the symptoms of Spinal intradural arachnoid cysts ? | What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Spinal intradural arachnoid cysts |
What is (are) Lattice corneal dystrophy type 1 ? | Lattice corneal dystrophy is a type of stromal dystrophy. It is characterized by the build up of protein fibers (i.e., amyloid) in the stroma. Symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. Most cases of lattice dystrophy are caused by mutations in the TGFBI gene. | Lattice corneal dystrophy type 1 |
What are the symptoms of Lattice corneal dystrophy type 1 ? | What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Lattice corneal dystrophy type 1 |
What is (are) Complex regional pain syndrome ? | Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after an injury. The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain gets w... | Complex regional pain syndrome |
What are the symptoms of Complex regional pain syndrome ? | What are the signs and symptoms of complex regional pain syndrome? Complex regional pain syndrome (CRPS) usually develops after an injury, surgery, stroke or heart attack. The key symptom of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain gets worse over time. CRPS mos... | Complex regional pain syndrome |
What causes Complex regional pain syndrome ? | What causes complex regional pain syndrome? The underlying cause of complex regional pain syndrome (CRPS) is not well understood. In most cases it occurs after an illness or injury that did not directly damage the nerves in the affected area (Type I). In some cases, it occurs after a specific nerve injury (Type II). Th... | Complex regional pain syndrome |
What are the treatments for Complex regional pain syndrome ? | How might complex regional pain syndrome be treated? There is no known cure for complex regional pain syndrome (CRPS). Treatment includes a multidisciplinary approach with the aim of controlling pain symptoms. It has been suggested that when treatment is started within a few months of when symptoms begin, improvement o... | Complex regional pain syndrome |
What is (are) Primary hyperparathyroidism ? | Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetit... | Primary hyperparathyroidism |
What is (are) Wildervanck syndrome ? | Wildervanck syndrome is a condition that occurs almost exclusively in females and affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder that is present from birth), and hearing loss. ... | Wildervanck syndrome |
What are the symptoms of Wildervanck syndrome ? | What are the signs and symptoms of Wildervanck syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wildervanck 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 Dic... | Wildervanck syndrome |
What causes Wildervanck syndrome ? | What causes Wildervanck syndrome? The exact cause of Wildervanck syndrome is not known. It is suspected to be a polygenic condition, meaning that many genetic factors may be involved. | Wildervanck syndrome |
Is Wildervanck syndrome inherited ? | How is Wildervanck syndrome inherited? Wildervanck syndrome does not have a clear pattern of inheritance. In most cases, only one person in a family is affected. These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome. Because this syndrome occurs mostly in females, it ... | Wildervanck syndrome |
What is (are) Michels syndrome ? | Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry,... | Michels syndrome |
What are the symptoms of Michels syndrome ? | What are the signs and symptoms of Michels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michels 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 ... | Michels syndrome |
What are the symptoms of Hyperthermia induced defects ? | What are the signs and symptoms of Hyperthermia induced defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperthermia induced defects. 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... | Hyperthermia induced defects |
What is (are) Polycythemia vera ? | Polycythemia vera (PV) is a condition characterized by an increased number of red blood cells in the bloodstream. Affected people may also have excess white blood cells and platelets. These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries a... | Polycythemia vera |
What are the symptoms of Polycythemia vera ? | What are the signs and symptoms of Polycythemia vera? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycythemia vera. 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... | Polycythemia vera |
Is Polycythemia vera inherited ? | Is polycythemia vera inherited? Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells. In rare cases, the... | Polycythemia vera |
What are the treatments for Polycythemia vera ? | What treatments are available for itching related to polycythemia vera? There are several treatments for the itching (pruritus) related to polycythemia vera (PV). No single treatment has been found to be effective for all affected individuals. For mild cases, treatment may include avoiding triggers of itching and dry... | Polycythemia vera |
What are the symptoms of Spastic paraplegia 6 ? | What are the signs and symptoms of Spastic paraplegia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 6. 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 Dic... | Spastic paraplegia 6 |
What are the symptoms of Whistling face syndrome, recessive form ? | What are the signs and symptoms of Whistling face syndrome, recessive form? The Human Phenotype Ontology provides the following list of signs and symptoms for Whistling face syndrome, recessive form. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Whistling face syndrome, recessive form |
What is (are) X-linked agammaglobulinemia ? | X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagno... | X-linked agammaglobulinemia |
What are the symptoms of X-linked agammaglobulinemia ? | What are the signs and symptoms of X-linked agammaglobulinemia? Affected infants are usually healthy for the first few months of life until they begin to develop recurrent bacterial infections. The most common bacterial infections are ear infections, pneumonia, pink eye, sinus infections, and infections that cause chro... | X-linked agammaglobulinemia |
What are the treatments for X-linked agammaglobulinemia ? | How might X-linked agammaglobulinemia be treated? Managing X-linked agammaglobulinemia (XLA) mainly consists of preventing infections and treating infections aggressively when they do occur. Sudden infections in individuals with XLA are usually treated with antibiotics that are taken for at least twice as long as taken... | X-linked agammaglobulinemia |
What are the symptoms of Radius absent anogenital anomalies ? | What are the signs and symptoms of Radius absent anogenital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Radius absent anogenital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Radius absent anogenital anomalies |
What are the symptoms of Hall Riggs mental retardation syndrome ? | What are the signs and symptoms of Hall Riggs mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hall Riggs mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Hall Riggs mental retardation syndrome |
What is (are) Osteopetrosis autosomal recessive 2 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | Osteopetrosis autosomal recessive 2 |
What are the symptoms of Osteopetrosis autosomal recessive 2 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Osteopetrosis autosomal recessive 2 |
What is (are) Oculopharyngeal muscular dystrophy ? | Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. There are two types of OPMD, which are... | Oculopharyngeal muscular dystrophy |
What are the symptoms of Oculopharyngeal muscular dystrophy ? | What are the signs and symptoms of Oculopharyngeal muscular dystrophy? There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most people show one or more symptoms by the age of 70. The most common symptoms of O... | Oculopharyngeal muscular dystrophy |
What causes Oculopharyngeal muscular dystrophy ? | What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules cal... | Oculopharyngeal muscular dystrophy |
Is Oculopharyngeal muscular dystrophy inherited ? | How is oculopharyngeal muscular dystrophy inherited? | Oculopharyngeal muscular dystrophy |
How to diagnose Oculopharyngeal muscular dystrophy ? | Is genetic testing available for oculopharyngeal muscular dystrophy? Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To view the contact information for the clinical laboratories conducting test... | Oculopharyngeal muscular dystrophy |
What are the treatments for Oculopharyngeal muscular dystrophy ? | How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surger... | Oculopharyngeal muscular dystrophy |
What is (are) Alpha-thalassemia ? | Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form ... | Alpha-thalassemia |
What are the symptoms of Alpha-thalassemia ? | What are the signs and symptoms of Alpha-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia. 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... | Alpha-thalassemia |
Is Alpha-thalassemia inherited ? | How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. Therefore, there are 4 alleles that produce alpha-globin, the ... | Alpha-thalassemia |
What are the treatments for Alpha-thalassemia ? | How might alpha-thalassemia be treated? Treatment of alpha-thalassemia often includes blood transfusions to provide healthy blood cells that have normal hemoglobin. Bone marrow transplant has helped to cure a small number of individuals with severe alpha-thalassemia. | Alpha-thalassemia |
What is (are) Pediatric Crohn's disease ? | Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, ... | Pediatric Crohn's disease |
What are the symptoms of Meleda disease ? | What are the signs and symptoms of Meleda disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Meleda 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 l... | Meleda disease |
What are the symptoms of Juvenile idiopathic arthritis ? | What are the signs and symptoms of Juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile idiopathic arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Juvenile idiopathic arthritis |
What are the symptoms of Amish infantile epilepsy syndrome ? | What are the signs and symptoms of Amish infantile epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish infantile epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Amish infantile epilepsy syndrome |
What is (are) Anaplastic astrocytoma ? | Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary... | Anaplastic astrocytoma |
Is Anaplastic astrocytoma inherited ? | Are anaplastic astrocytomas inherited? Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown. Familial cases of isolated astrocytomas have been reported but are very rare. Astrocytomas can... | Anaplastic astrocytoma |
How to diagnose Anaplastic astrocytoma ? | Is genetic testing available for anaplastic astrocytomas? When anaplastic astrocytomas are not associated with an inherited condition, the cause typically remains unknown. In these cases, genetic testing is not available. However, genetic testing is available for the few genetic disorders that are associated with an in... | Anaplastic astrocytoma |
What are the symptoms of Ehlers-Danlos syndrome, periodontitis type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, periodontitis type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, periodontitis type . If the information is available, the table below includes how often the symptom is seen in people with this cond... | Ehlers-Danlos syndrome, periodontitis type |
What are the symptoms of Popliteal pterygium syndrome lethal type ? | What are the signs and symptoms of Popliteal pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome lethal type. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Popliteal pterygium syndrome lethal type |
What is (are) Diabetic mastopathy ? | Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). | Diabetic mastopathy |
What are the symptoms of Diabetic mastopathy ? | What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabet... | Diabetic mastopathy |
What causes Diabetic mastopathy ? | What causes diabetic mastopathy? The cause of diabetic mastopathy is unknown. Theories include an autoimmune reaction, genetic factors such as human leukocyte antigen (HLA) type, association with insulin therapy, and association with hyperglycemia. | Diabetic mastopathy |
How to diagnose Diabetic mastopathy ? | How is diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot pr... | Diabetic mastopathy |
What are the treatments for Diabetic mastopathy ? | How is diabetic mastopathy treated? Diabetic mastopathy is a benign condition and should be managed as such. Patients should be advised about the condition and how to self examine the breasts. They should be advised that iif there are any changes in size and number of breast lumps that they should consult their breast ... | Diabetic mastopathy |
What is (are) Stiff person syndrome ? | Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as ... | Stiff person syndrome |
What are the symptoms of Stiff person syndrome ? | What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person 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 D... | Stiff person syndrome |
What causes Stiff person syndrome ? | What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in som... | Stiff person syndrome |
Is Stiff person syndrome inherited ? | Is stiff person syndrome inherited? Genetic factors involved in causing stiff person syndrome have not been established. While most cases appear to occur in an isolated manner, some familial cases have been reported. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics m... | Stiff person syndrome |
How to diagnose Stiff person syndrome ? | Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the cha... | Stiff person syndrome |
What are the treatments for Stiff person syndrome ? | How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective ... | Stiff person syndrome |
What is (are) Prothrombin thrombophilia ? | Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occur in the ... | Prothrombin thrombophilia |
What are the symptoms of Prothrombin thrombophilia ? | What are the signs and symptoms of Prothrombin thrombophilia? The signs and symptoms of this condition depend on whether a person has inherited one or two copies of the F2 gene mutation from his or her parents. A person who inherits one gene mutation is called a heterozygote. Whereas a person that inherits two gene mut... | Prothrombin thrombophilia |
Is Prothrombin thrombophilia inherited ? | How is prothrombin thrombophilia inherited? Prothrombin thrombophilia is inherited in an autosomal dominant manner. For this condition, this means that having one mutated copy of the disease-causing gene (F2) in each cell may be sufficient to cause signs or symptoms of the condition. The mutation in the F2 gene that ca... | Prothrombin thrombophilia |
How to diagnose Prothrombin thrombophilia ? | What kind of tests can determine if an individual has, or is a carrier of, prothrombin thrombophilia? No clinical signs or symptoms are specific for prothrombin thrombophilia. A confirmed diagnosis of this condition requires specific genetic testing via DNA analysis of the F2 gene, which provides instructions for makin... | Prothrombin thrombophilia |
What is (are) Acrodermatitis enteropathica ? | Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail... | Acrodermatitis enteropathica |
What are the symptoms of Acrodermatitis enteropathica ? | What are the signs and symptoms of Acrodermatitis enteropathica? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodermatitis enteropathica. 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... | Acrodermatitis enteropathica |
What are the symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type ? | What are the signs and symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism of hypoplastic tibia and radius type. If the information is available, the table below includes how often the symptom is seen ... | Mesomelic dwarfism of hypoplastic tibia and radius type |
What is (are) Thalassemia ? | Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, a... | Thalassemia |
What are the symptoms of Thalassemia ? | What are the signs and symptoms of Thalassemia? The signs and symptoms vary depending on the severity of the thalassemia. For example, people affected by milder forms of thalassemia can develop mild anemia or may have no signs or symptoms of the condition at all. Intermediate forms of thalassemia can cause mild to mode... | Thalassemia |
What causes Thalassemia ? | What causes thalassemia? There are two main types of thalassemia, alpha thalassemia and beta thalassemia, which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). Hemoglobin is made up of two different components (subunits): beta globin and alpha globin. The HBB gene provid... | Thalassemia |
Is Thalassemia inherited ? | How is thalassemia inherited? In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of hemoglobin. Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell. The parent... | Thalassemia |
How to diagnose Thalassemia ? | Is genetic testing available for thalassemia? Yes, genetic testing is available for HBB, HBA1 and HBA2, the genes known to cause thalassemia. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centrali... | Thalassemia |
What are the treatments for Thalassemia ? | How might thalassemia be treated? The best treatment options depend on the severity of thalassemia. People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may require frequent blood transfusions, iron chelation therapy (treatments to remove excess iron fr... | Thalassemia |
What are the symptoms of Osteogenesis imperfecta type II ? | What are the signs and symptoms of Osteogenesis imperfecta type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Osteogenesis imperfecta type II |
What is (are) McCune Albright syndrome ? | McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and... | McCune Albright syndrome |
What are the symptoms of McCune Albright syndrome ? | What are the signs and symptoms of McCune Albright syndrome? People with McCune Albright syndrome (MAS) may have symptoms related to bones, the endocrine system, and/or skin. The symptoms can range from mild to severe. Bone symptoms may include: Polyostotic fibrous dysplasia: This is when normal bone is replaced by sof... | McCune Albright syndrome |
What causes McCune Albright syndrome ? | What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that ... | McCune Albright syndrome |
Is McCune Albright syndrome inherited ? | Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenom... | McCune Albright syndrome |
What are the treatments for McCune Albright syndrome ? | How might McCune Albright syndrome be treated? Although there is no cure for McCune Albright syndrome (MAS), drug treatments may help some of the endocrine symptoms, and surgery can help repair some of the bone problems. Generally, treatment depends on what tissues are affected as well as the severity. Surgery may be n... | McCune Albright syndrome |
What is (are) Glycogen storage disease type 6 ? | Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly. Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly whe... | Glycogen storage disease type 6 |
What are the symptoms of Glycogen storage disease type 6 ? | What are the signs and symptoms of Glycogen storage disease type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Glycogen storage disease type 6 |
What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 4 ? | What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 4. If the information is available, the table below includes how often the symptom is seen in people with t... | Hemophagocytic lymphohistiocytosis, familial, 4 |
What is (are) Chiari malformation type 2 ? | Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accomp... | Chiari malformation type 2 |
What are the symptoms of Chiari malformation type 2 ? | What are the signs and symptoms of Chiari malformation type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 2. 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... | Chiari malformation type 2 |
Is Chiari malformation type 2 inherited ? | Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental ... | Chiari malformation type 2 |
What are the symptoms of Nasodigitoacoustic syndrome ? | What are the signs and symptoms of Nasodigitoacoustic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasodigitoacoustic 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... | Nasodigitoacoustic syndrome |
What are the symptoms of Hair defect with photosensitivity and mental retardation ? | What are the signs and symptoms of Hair defect with photosensitivity and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Hair defect with photosensitivity and mental retardation. If the information is available, the table below includes how often the symptom is see... | Hair defect with photosensitivity and mental retardation |
What is (are) Adenoid cystic carcinoma ? | Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It ca... | Adenoid cystic carcinoma |
What causes Adenoid cystic carcinoma ? | What causes adenoid cystic carcinoma? The underlying cause of adenoid cystic carcinoma (ACC) is not yet known, and no strong genetic or environmental risk factors specific to ACC have been identified. Researchers believe that a combination of various genetic and environmental factors probably interact to ultimately cau... | Adenoid cystic carcinoma |
Is Adenoid cystic carcinoma inherited ? | Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of ... | Adenoid cystic carcinoma |
What are the symptoms of Hyperglycerolemia ? | What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. 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... | Hyperglycerolemia |
What are the symptoms of Leiomyoma of vulva and esophagus ? | What are the signs and symptoms of Leiomyoma of vulva and esophagus? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiomyoma of vulva and esophagus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Leiomyoma of vulva and esophagus |
What is (are) Paroxysmal extreme pain disorder ? | Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. As a person ages, the loc... | Paroxysmal extreme pain disorder |
What are the symptoms of Paroxysmal extreme pain disorder ? | What are the signs and symptoms of Paroxysmal extreme pain disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal extreme pain disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Paroxysmal extreme pain disorder |
What is (are) Cushing's syndrome ? | Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness,... | Cushing's syndrome |
What are the symptoms of Cushing's syndrome ? | What are the signs and symptoms of Cushing's syndrome? The signs and symptoms of Cushing's syndrome may include: Upper body obesity Severe fatigue Muscle weakness High blood pressure Backache Elevated blood sugar Easy bruising Bluish-red stretch marks on the skin Neurological issues Women with Cushing's syndrome may al... | Cushing's syndrome |
What causes Cushing's syndrome ? | What causes Cushing's syndrome? Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. Pituitary adeno... | Cushing's syndrome |
Is Cushing's syndrome inherited ? | Is Cushing's syndrome inherited? Most cases of Cushing's syndrome are not inherited. However, Cushing's syndrome rarely occurs in inherited conditions characterized by the development of tumors of one or more endocrine gland. These conditions may include: Primary pigmented micronodular adrenal disease, in which childre... | Cushing's syndrome |
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