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What are the symptoms of Familial hemiplegic migraine ? | What are the signs and symptoms of Familial hemiplegic migraine? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine. 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 Perry syndrome ? | What are the signs and symptoms of Perry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Perry 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 to l... | |
What are the symptoms of Alveolar capillary dysplasia ? | What are the signs and symptoms of Alveolar capillary dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alveolar capillary dysplasia. 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 is (are) Neuropathy ataxia retinitis pigmentosa syndrome ? | Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and proble... | |
What are the symptoms of Neuropathy ataxia retinitis pigmentosa syndrome ? | What are the signs and symptoms of Neuropathy ataxia retinitis pigmentosa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy ataxia retinitis pigmentosa syndrome. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What are the symptoms of Roifman syndrome ? | What are the signs and symptoms of Roifman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roifman 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 Brachydactyly type A6 ? | What are the signs and symptoms of Brachydactyly type A6? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A6. 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... | |
What is (are) Alopecia universalis ? | Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's i... | |
What are the symptoms of Alopecia universalis ? | What are the signs and symptoms of Alopecia universalis? Alopecia universalis (AU) is characterized by the complete loss of hair on both the scalp and body. Most people with AU do not have other signs and symptoms, but some may experience a burning sensation or itching on affected areas. In some cases, AU can be associ... | |
What causes Alopecia universalis ? | What causes alopecia universalis? The exact underlying cause of alopecia universalis (AU) is not currently known. AU is an advanced form of alopecia areata (AA), a condition that leads to round patches of hair loss. AA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attac... | |
Is Alopecia universalis inherited ? | Is alopecia universalis inherited? Alopecia universalis is believed to be a multifactorial condition, which means it is caused by a combination of environmental influences and genetic predisposition. While a predisposition can be inherited and some affected people have a family history, the condition itself is not thou... | |
How to diagnose Alopecia universalis ? | How is alopecia universalis diagnosed? A diagnosis of alopecia universalis is usually based on the signs and symptoms present in each person. In rare cases, a scalp biopsy may be needed to confirm the diagnosis. | |
What are the treatments for Alopecia universalis ? | How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatmen... | |
What are the symptoms of Osteodysplasty precocious of Danks Mayne and Kozlowski ? | What are the signs and symptoms of Osteodysplasty precocious of Danks Mayne and Kozlowski? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasty precocious of Danks Mayne and Kozlowski. If the information is available, the table below includes how often the symptom is seen in... | |
What is (are) GM1 gangliosidosis type 3 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... | |
What are the symptoms of GM1 gangliosidosis type 3 ? | What are the signs and symptoms of GM1 gangliosidosis type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 3. 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 M... | |
What are the symptoms of Synostoses, tarsal, carpal, and digital ? | What are the signs and symptoms of Synostoses, tarsal, carpal, and digital? The Human Phenotype Ontology provides the following list of signs and symptoms for Synostoses, tarsal, carpal, and digital. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What is (are) Frontal fibrosing alopecia ? | Frontal fibrosing alopecia (FFA) is a form of lichen planus follicularis that is characterized primarily by slowly progressive hair loss (alopecia) and scarring on the scalp near the forehead. In some cases, the eyebrows, eye lashes and/or other parts of the body may be involved, as well. Although it has been suggested... | |
What are the symptoms of Frontal fibrosing alopecia ? | What are the signs and symptoms of frontal fibrosing alopecia? Frontal fibrosing alopecia (FFA) is characterized primarily by hair loss (alopecia) and scarring on the scalp near the forehead. The band of hair loss on the front and sides of the scalp is usually symmetrical and slowly progressive (worsening over time). T... | |
What causes Frontal fibrosing alopecia ? | What causes frontal fibrosing alopecia? The exact underlying cause of frontal fibrosing alopecia (FFA) is unknown. FFA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles (structures in the skin that make hair). Scientists also suspect that there ma... | |
Is Frontal fibrosing alopecia inherited ? | Is frontal fibrosing alopecia inherited? Frontal fibrosing alopecia is not thought to be inherited in most cases. It rarely affects more than one person in a family. | |
How to diagnose Frontal fibrosing alopecia ? | How is frontal fibrosing alopecia diagnosed? Frontal fibrosing alopecia is often suspected based on the presence of characteristic signs and symptoms. The diagnosis can be confirmed by examining a small sample of skin (skin biopsy) from the affected area. In some cases, laboratory studies may be ordered to rule out oth... | |
What are the treatments for Frontal fibrosing alopecia ? | How might frontal fibrosing alopecia be treated? Unfortunately, there is currently no cure for frontal fibrosing alopecia (FFA). Because the hair loss associated with this condition is thought to be caused by inflammation of hair follicles, treatment often involves using anti-inflammatory medications or ointments, such... | |
What is (are) Chromosome 7q deletion ? | Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | |
What are the symptoms of Maturity-onset diabetes of the young, type 5 ? | What are the signs and symptoms of Maturity-onset diabetes of the young, type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 5. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What is (are) Hemoglobin E disease ? | Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. It is inherited in an autosomal reces... | |
What are the symptoms of Hemoglobin E disease ? | What are the signs and symptoms of hemoglobin E disease? Affected individuals can develop mild thalassemia in the first few months of life. While mild splenomegaly and/or anemia can occur, it is generally considered a benign condition. When a person inherits a gene mutation from one of their parents, they are said to b... | |
How to diagnose Hemoglobin E disease ? | How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. More specialized tests, such as a hemoglobi... | |
What are the treatments for Hemoglobin E disease ? | How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life. | |
What are the symptoms of Nephrotic syndrome, idiopathic, steroid-resistant ? | What are the signs and symptoms of Nephrotic syndrome, idiopathic, steroid-resistant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome, idiopathic, steroid-resistant. If the information is available, the table below includes how often the symptom is seen in people wi... | |
What is (are) Pachyonychia congenita ? | Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplanta... | |
What are the symptoms of Pachyonychia congenita ? | What are the signs and symptoms of Pachyonychia congenita? The signs and symptoms of pachyonychia congenita (PC) vary based on the specific keratin gene involved (KRT6A, KRT6B, KRT6C, KRT16, and KRT17) and the specific gene mutation. However, the most common features of the condition include: Thickened nails Plantar hy... | |
What causes Pachyonychia congenita ? | What causes pachyonychia congenita? Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes alter the struc... | |
Is Pachyonychia congenita inherited ? | How is pachyonychia congenita inherited? Pachyonychia congenita (PC) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Ot... | |
How to diagnose Pachyonychia congenita ? | Is genetic testing available for pachyonychia congenita? Yes, genetic testing is available for the five genes known to cause pachyonychia congenita. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a cen... | |
What are the treatments for Pachyonychia congenita ? | How might pachyonychia congenita be treated? There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. Some affected people may also require aids... | |
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... | |
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... | |
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 ... | |
What is (are) Waardenburg syndrome type 2 ? | Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf. Type 2 is one the most common forms of Waardenburg syndrome, along with... | |
What are the symptoms of Waardenburg syndrome type 2 ? | What are the signs and symptoms of Waardenburg syndrome type 2? In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial... | |
How to diagnose Waardenburg syndrome type 2 ? | How is a subtype of Waardenburg syndrome type 2 diagnosed? Subtypes of Waardenburg syndrome type 2 are determined by the suspected genetic cause of the condition in a family. In some subtypes, the genetic cause is a known gene. In other subtypes, the general location (locus) of the genetic cause has been identified, ... | |
What is (are) Autoimmune gastrointestinal dysmotility ? | Autoimmune gastrointestinal dysmotility (AGID) is a rare form of autoimmune autonomic neuropathy that can occur either due to an idiopathic cause or a paraneoplastic cause. Idiopathic forms of AGID are a manifestation of autoimmune autonomic neuropathy that affects the digestive nervous system. The signs and symptoms o... | |
What are the symptoms of Isolated growth hormone deficiency type 3 ? | What are the signs and symptoms of Isolated growth hormone deficiency type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated growth hormone deficiency type 3. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What are the symptoms of Bardet-Biedl syndrome 10 ? | What are the signs and symptoms of Bardet-Biedl syndrome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 10. 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) Pyle disease ? | Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones o... | |
What are the symptoms of Pyle disease ? | What are the signs and symptoms of Pyle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyle 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 look ... | |
Is Pyle disease inherited ? | Is Pyle disease inherited? Pyle disease in inherited in an autosomal recessive manner, 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 often don't have any signs and symptoms of the cond... | |
What is (are) Idiopathic juxtafoveal retinal telangiectasia ? | Idiopathic juxtafoveal retinal telangiectasia (IJT) refers to a group of eye conditions characterized by dilated or twisting blood vessels (telangiectasia) and defective capillaries (tiny blood vessels) near the fovea in the retina. The fovea has the biggest number of special retinal nerve cells, called cones, which en... | |
What are the symptoms of Idiopathic juxtafoveal retinal telangiectasia ? | What are the signs and symptoms of idiopathic juxtafoveal retinal telangiectasia? Signs and symptoms of idiopathic juxtafoveal retinal telangiectasia may include slow loss of vision, distorted vision, trouble reading, and scotomata (a spot in the visual field in which vision is absent or deficient). | |
What causes Idiopathic juxtafoveal retinal telangiectasia ? | What causes idiopathic juxtafoveal retinal telangiectasia? The exact, underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. IJT has been reported in some siblings (including twins) and other family members of affected people. This suggests there may be a genetic component to IJT; however... | |
What are the treatments for Idiopathic juxtafoveal retinal telangiectasia ? | How might idiopathic juxtafoveal retinal telangiectasia (IJT) be treated? Laser photocoagulation of areas of leakage may be helpful in treating vision loss in people with certain subtypes of IJT, such as Group 1A. A laser is a powerful beam of light which can be focused on the retina. Small "bursts" of the laser can be... | |
What is (are) Glutathione synthetase deficiency ? | Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. Glutathione helps prevent cell damage, build DNA and proteins, and process medications and cancer-causing compounds. People can have mild, moderate, or severe disease. Mild disease may cause hemolytic anemia and 5-oxo... | |
What are the symptoms of Glutathione synthetase deficiency ? | What are the signs and symptoms of Glutathione synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutathione synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Tremors, nystagmus and duodenal ulcers ? | What are the signs and symptoms of Tremors, nystagmus and duodenal ulcers? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremors, nystagmus and duodenal ulcers. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Pigmented purpuric eruption ? | Pigmented purpuric eruption is a condition that causes reddish-brown skin lesions, most commonly on the lower legs. In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own. The cause of pigmented purpuric eruption is unknown. | |
What are the symptoms of Pigmented purpuric eruption ? | What are the signs and symptoms of Pigmented purpuric eruption? Pigmented purpuric eruption is characterized by reddish-brown patches on the skin. These patches result from tiny red dots, sometimes referred to as cayenne pepper spots, which group together to form a flat red patch. Over time, these patches become brown ... | |
What causes Pigmented purpuric eruption ? | What causes pigmented purpuric eruption? The cause of pigmented purpuric eruption is unknown. Occasionally, it occurs as a reaction to a medication, food additive, viral infection or following exercise. In rare cases, there appears to be a genetic component. | |
What are the treatments for Pigmented purpuric eruption ? | What treatment is available for pigmented purpuric eruption? There is no treatment that has been proven to be beneficial for people with pigmented purpuric eruption. However, some treatments have been reported to improve this condition, including pentoxifylline, aminaphtone, and photochemotherapy (PUVA). | |
What is (are) Pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate ca... | |
What are the symptoms of Pyruvate carboxylase deficiency ? | What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase deficiency. 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... | |
Is Pyruvate carboxylase deficiency inherited ? | How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one ... | |
What are the symptoms of Symphalangism with multiple anomalies of hands and feet ? | What are the signs and symptoms of Symphalangism with multiple anomalies of hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism with multiple anomalies of hands and feet. If the information is available, the table below includes how often the symptom is seen ... | |
What is (are) Nonalcoholic steatohepatitis ? | Nonalcoholic steatohepatitis, or NASH, is a common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a... | |
What causes Nonalcoholic steatohepatitis ? | What causes nonalcoholic steatohepatitis? The underlying cause of NASH remains unclear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes. However, not every obese ... | |
How to diagnose Nonalcoholic steatohepatitis ? | How is nonalcoholic steatohepatitis diagnosed? NASH is usually first suspected when elevations are noted in liver tests that are included in routine blood test panels. These may include alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease... | |
What are the treatments for Nonalcoholic steatohepatitis ? | How might nonalcoholic steatohepatitis be treated? Currently, there are no specific therapies for NASH. The most important recommendations given to persons with this disease are to: reduce their weight (if obese or overweight) follow a balanced and healthy diet increase physical activity avoid alcohol avoid unnecessary... | |
What is (are) Ring chromosome 20 ? | Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and ch... | |
What are the treatments for Ring chromosome 20 ? | How might ring chromosome 20 be treated? Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person. Broad spectrum AEDs are usually tried firs... | |
What are the symptoms of Palmoplantar keratoderma, epidermolytic ? | What are the signs and symptoms of Palmoplantar keratoderma, epidermolytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmoplantar keratoderma, epidermolytic. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of Tricho-dento-osseous syndrome ? | What are the signs and symptoms of Tricho-dento-osseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous 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 Medli... | |
What is (are) Fumarase deficiency ? | Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. Other signs and symp... | |
What are the symptoms of Fumarase deficiency ? | What are the signs and symptoms of Fumarase deficiency? Most newborns with fumarase deficiency show severe neurologic abnormalities, including poor feeding, failure to thrive, and poor muscle tone (hypotonia). Early-onset infantile encephalopathy (altered brain structure or function), seizures, and severe developmental... | |
What causes Fumarase deficiency ? | What causes fumarase deficiency? Mutations in the FH gene cause fumarase deficiency. The FH gene provides instructions for making an enzyme called fumarase, which participates in a series of reactions allowing cells to use oxygen and generate energy. Mutations in the FH gene disrupt the enzyme's ability to do its job. ... | |
What are the treatments for Fumarase deficiency ? | How might fumarase deficiency be treated? There is currently no effective treatment for fumarase deficiency. Nutritional intervention may be appropriate for children with feeding difficulties. Physical therapy and wheelchairs can also be useful for some individuals. | |
What is (are) Cheilitis glandularis ? | Cheilitis glandularis is a rare inflammatory disorder of the lip. It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the envi... | |
What are the symptoms of Cheilitis glandularis ? | What are the signs and symptoms of Cheilitis glandularis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cheilitis glandularis. 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... | |
What are the treatments for Cheilitis glandularis ? | How might cheilitis glandularis be treated? The approach to treatment for cheilitis glandularis is typically based on information obtained from histopathologic analysis (microscopic examination of the tissue); the identification of the likely causes responsible for the condition; and attempts to alleviate or eradicate ... | |
What is (are) Froelich syndrome ? | Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other gla... | |
What are the symptoms of Froelich syndrome ? | What are the signs and symptoms of Froelich syndrome? Signs and symptoms of Froelich syndrome include obesity, small testes, delay in the onset of puberty, short stature (compared to other family members of the same sex), malformed or undersized fingernails, and headaches. Some children with Froehlich syndrome may have... | |
What causes Froelich syndrome ? | What causes Froelich syndrome? Froehlich syndrome is usually caused by lesions in the hypothalamic gland or pituitary gland. The lesions may be caused by a tumor (e.g., craniopharyngioma), swelling from an infection (e.g., tuberculosis), encephalitis, or other brain injuries. | |
How to diagnose Froelich syndrome ? | How might Froelich syndrome be diagnosed? Diagnosis of Froelich syndrome may be difficult and requires cautious and thoughtful clinical examination, testing urine for low levels of pituitary hormones, and likely other additional tests before a definitive diagnosis of Froehlich syndrome can be made. | |
What are the symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia ? | What are the signs and symptoms of Autosomal recessive palmoplantar keratoderma and congenital alopecia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive palmoplantar keratoderma and congenital alopecia. If the information is available, the table below includes how ... | |
What is (are) Juvenile primary lateral sclerosis ? | Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progre... | |
What are the symptoms of Juvenile primary lateral sclerosis ? | What are the signs and symptoms of Juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress over a period of 1... | |
What causes Juvenile primary lateral sclerosis ? | What causes juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructio... | |
Is Juvenile primary lateral sclerosis inherited ? | How is juvenile primary lateral sclerosis inherited? Juvenile primary lateral sclerosis 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 ty... | |
What is (are) Retroperitoneal fibrosis ? | Retroperitoneal fibrosis is a slowly progressive disorder in which the tubes that carry urine from the kidneys to the bladder (ureters) and other abdominal organs are blocked by a fibrous mass and inflammation in the back of the abdomen. The disorder may cause chronic unilateral obstructive uropathy or chronic bilatera... | |
What are the symptoms of Retroperitoneal fibrosis ? | What are the symptoms of retroperitoneal fibrosis? Early symptoms of retroperitoneal fibrosis may include: Dull pain in the abdomen that increases with time Swelling of one leg Decreased circulation in the legs leading to pain and discoloration Late symptoms of retroperitoneal fibrosis may include: Decreased urine outp... | |
What causes Retroperitoneal fibrosis ? | What causes retroperitoneal fibrosis? The cause of retroperitoneal fibrosis is unknown in many cases (idiopathic). Some cases occur in association with other factors, including: Asbestos exposure Smoking Neoplasms (tumor) Infections Trauma Radiotherapy Surgery Use of certain drugs | |
What are the treatments for Retroperitoneal fibrosis ? | How might retroperitoneal fibrosis be treated? Treatment of retroperitoneal fibrosis may include: Corticosteroid therapy Tamoxifen Surgery Stents Corticosteroids are tried first. Dosing will be prescribed on a case by case basis, but doses often vary between 30 and 60 mg per day. Corticosteroids are then tapered slowly... | |
What is (are) Graves' disease ? | Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism and occurs most often in women ov... | |
What are the symptoms of Graves' disease ? | What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' 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... | |
What are the symptoms of Joubert syndrome 2 ? | What are the signs and symptoms of Joubert syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome 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 Medical Diction... | |
What is (are) Dyggve-Melchior-Clausen syndrome ? | Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of ... | |
What are the symptoms of Dyggve-Melchior-Clausen syndrome ? | What are the signs and symptoms of Dyggve-Melchior-Clausen syndrome? Affected newborns may be small at birth, but otherwise appear normal. Skeletal findings are often recognized first between 1 and 18 months. With age, other characteristics begin to develop. Chest deformities, feeding difficulties, and developmental de... | |
How to diagnose Dyggve-Melchior-Clausen syndrome ? | How is Dyggve-Melchior-Clausen syndrome diagnosed? DMC syndrome may be suspected following a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings (e.g., barrel chest, and disproportionate short stature). Radiographs may confirm specific skeletal abnormalities and findi... | |
What are the treatments for Dyggve-Melchior-Clausen syndrome ? | How might Dyggve-Melchior-Clausen syndrome be treated? Treatment of individuals with DMC syndrome depends on the affected person's symptoms and is usually supportive. There is no cure for this condition. Treatments might include spinal fusion of the segments of the spinal column at the top of the spine or other means o... | |
What is (are) Prinzmetal's variant angina ? | Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold... | |
What are the symptoms of Prinzmetal's variant angina ? | What are the symptoms of Prinzmetal's variant angina? The main symptom of Prinzmetal's variant angina is chest pain (angina) with the following characteristics: Occurs under the chest bone Described as squeezing, constricting, tightness, pressure, crushing Is usually severe and may radiate to the neck, jaw, shoulder, o... |
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