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What are the symptoms of Hailey-Hailey disease ? | What are the signs and symptoms of Hailey-Hailey disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hailey-Hailey 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 D... | Hailey-Hailey disease |
Is Hailey-Hailey disease inherited ? | How is Hailey-Hailey disease inherited? Hailey-Hailey disease is inherited in an autosomal dominant manner. This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause signs or symptoms of the condition. Some people with Hailey-Hailey disease inherit the condition from an af... | Hailey-Hailey disease |
How to diagnose Hailey-Hailey disease ? | Is genetic testing available for Hailey-Hailey disease? Yes. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing is available to analyze the ATP2C1 gene for mutations.Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in th... | Hailey-Hailey disease |
What are the treatments for Hailey-Hailey disease ? | How might Hailey-Hailey disease be treated? There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person. Affected people are encouraged to avoid "triggers" such as sunburn, sweating, and friction, and to keep the affected areas dry. Suns... | Hailey-Hailey disease |
What are the symptoms of Dermatoosteolysis Kirghizian type ? | What are the signs and symptoms of Dermatoosteolysis Kirghizian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoosteolysis Kirghizian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Dermatoosteolysis Kirghizian type |
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... | Isolated growth hormone deficiency type 3 |
What is (are) Esthesioneuroblastoma ? | Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, acc... | Esthesioneuroblastoma |
What are the symptoms of Esthesioneuroblastoma ? | What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes | Esthesioneuroblastoma |
What causes Esthesioneuroblastoma ? | What causes esthestioneuroblastoma? The cause of esthesioneuroblastoma is currently unknown. | Esthesioneuroblastoma |
How to diagnose Esthesioneuroblastoma ? | How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans. | Esthesioneuroblastoma |
What are the treatments for Esthesioneuroblastoma ? | How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with s... | Esthesioneuroblastoma |
What is (are) Polyembryoma ? | Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during p... | Polyembryoma |
What are the treatments for Polyembryoma ? | How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition. However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible. Chemotherapy, and sometimes radiation therapy, have also been used ... | Polyembryoma |
What is (are) Lattice corneal dystrophy type 3A ? | Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is ... | Lattice corneal dystrophy type 3A |
What are the symptoms of Lattice corneal dystrophy type 3A ? | What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Lattice corneal dystrophy type 3A |
What are the symptoms of Neuhauser Eichner Opitz syndrome ? | What are the signs and symptoms of Neuhauser Eichner Opitz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Eichner Opitz 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... | Neuhauser Eichner Opitz syndrome |
What are the symptoms of Oto-palato-digital syndrome type 1 ? | What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome 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... | Oto-palato-digital syndrome type 1 |
What is (are) Liposarcoma ? | Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor. | Liposarcoma |
What are the treatments for Liposarcoma ? | How might liposarcoma be treated? The treatment for liposarcoma depends on the type, size, and location of the tumor. Surgery to remove the tumor is often the first treatment. When the tumor is in the abdomen, it may be difficult to remove completely, especially if the tumor is growing near important organs that cann... | Liposarcoma |
What is (are) Monoclonal mast cell activation syndrome ? | Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to systemic... | Monoclonal mast cell activation syndrome |
What are the symptoms of Torg Winchester syndrome ? | What are the signs and symptoms of Torg Winchester syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Torg Winchester 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... | Torg Winchester syndrome |
What is (are) Megalocytic interstitial nephritis ? | Megalocytic interstitial nephritis is a rare chronic kidney disease that is characterized by inflammation of the kidney. It is similar to malakoplakia of the kidney. In this condition the inflammation is caused by various infiltrate, particularly histiocytes. A histiocyte is a type of immune cell that eats foreign subs... | Megalocytic interstitial nephritis |
What are the symptoms of Megalocytic interstitial nephritis ? | What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid). | Megalocytic interstitial nephritis |
What causes Megalocytic interstitial nephritis ? | What causes malakoplakia? The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS. | Megalocytic interstitial nephritis |
What is (are) Familial hemiplegic migraine type 1 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and m... | Familial hemiplegic migraine type 1 |
What are the symptoms of Familial hemiplegic migraine type 1 ? | What are the signs and symptoms of Familial hemiplegic migraine type 1? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g.... | Familial hemiplegic migraine type 1 |
What are the treatments for Familial hemiplegic migraine type 1 ? | How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic ... | Familial hemiplegic migraine type 1 |
What are the symptoms of Corneal dystrophy and perceptive deafness ? | What are the signs and symptoms of Corneal dystrophy and perceptive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy and perceptive deafness. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Corneal dystrophy and perceptive deafness |
What is (are) Dwarfism ? | Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10" or shorter. Dwarfism can and most often does occur in families where both parents are of average height. It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type,... | Dwarfism |
How to diagnose Dwarfism ? | How is dwarfism diagnosed? Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. However, most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child's appearance, failure to gr... | Dwarfism |
What are the symptoms of Spastic paraplegia 4 ? | What are the signs and symptoms of Spastic paraplegia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 4. 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 4 |
What is (are) Selective IgM deficiency ? | Selective IgM deficiency or "Selective Immunoglobulin M deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteremia. The disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of IgM, normal levels of o... | Selective IgM deficiency |
What are the symptoms of Congenital disorder of glycosylation type I/IIX ? | What are the signs and symptoms of Congenital disorder of glycosylation type I/IIX? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorder of glycosylation type I/IIX. If the information is available, the table below includes how often the symptom is seen in people with t... | Congenital disorder of glycosylation type I/IIX |
What is (are) Emery-Dreifuss muscular dystrophy, X-linked ? | null | Emery-Dreifuss muscular dystrophy, X-linked |
What are the symptoms of Emery-Dreifuss muscular dystrophy, X-linked ? | What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Emery-Dreifuss muscular dystrophy, X-linked |
What is (are) Marfan syndrome ? | Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the... | Marfan syndrome |
What are the symptoms of Marfan syndrome ? | What are the signs and symptoms of Marfan syndrome? The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. Other common fea... | Marfan syndrome |
Is Marfan syndrome inherited ? | How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by c... | Marfan syndrome |
What is (are) Refsum disease, infantile form ? | Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of ... | Refsum disease, infantile form |
What are the symptoms of Refsum disease, infantile form ? | What are the signs and symptoms of Refsum disease, infantile form? The Human Phenotype Ontology provides the following list of signs and symptoms for Refsum disease, infantile form. 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... | Refsum disease, infantile form |
What is (are) Autoimmune pancreatitis ? | Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and sy... | Autoimmune pancreatitis |
What are the symptoms of Brachycephalofrontonasal dysplasia ? | What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Brachycephalofrontonasal dysplasia |
What is (are) Camptocormism ? | Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered,... | Camptocormism |
What are the symptoms of Bjornstad syndrome ? | What are the signs and symptoms of Bjornstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bjornstad 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... | Bjornstad syndrome |
What is (are) C syndrome ? | C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corne... | C syndrome |
What are the symptoms of C syndrome ? | What are the signs and symptoms of C syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for C 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 look up t... | C syndrome |
What are the symptoms of Keratoderma palmoplantar spastic paralysis ? | What are the signs and symptoms of Keratoderma palmoplantar spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Keratoderma palmoplantar spastic paralysis |
What are the symptoms of Weissenbacher-Zweymuller syndrome ? | What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller 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... | Weissenbacher-Zweymuller syndrome |
What is (are) Juvenile-onset dystonia ? | Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, t... | Juvenile-onset dystonia |
What are the symptoms of Juvenile-onset dystonia ? | What are the signs and symptoms of Juvenile-onset dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile-onset dystonia. 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... | Juvenile-onset dystonia |
What is (are) Familial hemiplegic migraine ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and m... | Familial hemiplegic migraine |
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... | Familial hemiplegic migraine |
What are the symptoms of Congenital generalized lipodystrophy type 2 ? | What are the signs and symptoms of Congenital generalized lipodystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Congenital generalized lipodystrophy type 2 |
What is (are) Huntington disease ? | Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually li... | Huntington disease |
What are the symptoms of Huntington disease ? | What are the signs and symptoms of Huntington disease? Huntington disease (HD) is a progressive disorder that causes motor, cognitive, and psychiatric signs and symptoms. On average, most people begin developing features of HD between ages 35 and 44. Signs and symptoms vary by stage and may include: Early stage: Behavi... | Huntington disease |
What causes Huntington disease ? | What causes Huntington disease? Huntington disease (HD) is caused by a change (mutation) in the HTT gene. This gene gives instructions for making a protein called huntingtin. The exact function of this protein is unclear, but it appears to be important to nerve cells (neurons) in the brain. The HTT gene mutation that c... | Huntington disease |
Is Huntington disease inherited ? | How is Huntington disease inherited? Huntington disease (HD) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the 2 copies of the HTT gene is enough to cause the condition. When a person with HD has children, each child has a 50% (1 in 2) chance to inherit the muta... | Huntington disease |
How to diagnose Huntington disease ? | Is genetic testing available for Huntington disease? Yes. Testing of adults at risk for Huntington disease (HD) who have no symptoms of the disease is called predictive testing. Whether to have predictive testing requires careful thought, including pre-test and post-test genetic counseling. This is particularly importa... | Huntington disease |
What are the treatments for Huntington disease ? | How might Huntington disease be treated? Unfortunately, there is currently no cure for Huntington disease (HD). The current goal of treatment is to slow down the course of the disease and help affected people function for as long and as comfortably as possible. Current treatment strategies involve the use of various me... | Huntington disease |
What are the symptoms of 49,XXXXX syndrome ? | What are the signs and symptoms of 49,XXXXX syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 49,XXXXX 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... | 49,XXXXX syndrome |
What is (are) Down syndrome ? | Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digesti... | Down syndrome |
What are the symptoms of Down syndrome ? | What are the signs and symptoms of Down syndrome? People with Down syndrome may develop the following medical problems: Congenital hypothyroidism Hearing loss Congenital heart defects Seizures Vision disorders Decreased muscle tone (hypotonia) Children with Down syndrome are also more likely to develop chronic respira... | Down syndrome |
What causes Down syndrome ? | What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person. In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called "nondisjunct... | Down syndrome |
How to diagnose Down syndrome ? | How is Down syndrome diagnosed? Down syndrome may be suspected and/or diagnosed during pregnancy, or after a child is born. During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A screening test poses no risks to the fetus and can determine the like... | Down syndrome |
What are the treatments for Down syndrome ? | How might Down syndrome be treated? Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down syndrome develop to their full potential. The overall goal of treatment is to boost cognition by improvi... | Down syndrome |
What is (are) Hypoplastic right heart syndrome ? | Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial... | Hypoplastic right heart syndrome |
What are the symptoms of Keratosis, seborrheic ? | What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. 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... | Keratosis, seborrheic |
What are the symptoms of Trichothiodystrophy nonphotosensitive ? | What are the signs and symptoms of Trichothiodystrophy nonphotosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy nonphotosensitive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Trichothiodystrophy nonphotosensitive |
What is (are) Brittle cornea syndrome ? | Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white pa... | Brittle cornea syndrome |
What are the symptoms of Brittle cornea syndrome ? | What are the signs and symptoms of Brittle cornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brittle cornea 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... | Brittle cornea syndrome |
What are the symptoms of Megalocornea-intellectual disability syndrome ? | What are the signs and symptoms of Megalocornea-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Megalocornea-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this ... | Megalocornea-intellectual disability syndrome |
What are the symptoms of Ichthyosis alopecia eclabion ectropion mental retardation ? | What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. If the information is available, the table below includes how often the symptom is s... | Ichthyosis alopecia eclabion ectropion mental retardation |
What are the symptoms of Facial ectodermal dysplasia ? | What are the signs and symptoms of Facial ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Facial ectodermal 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 MedlinePl... | Facial ectodermal dysplasia |
What is (are) Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affect... | Hereditary endotheliopathy, retinopathy, nephropathy, and stroke |
What are the symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke? Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30s or 40s. Early symptoms, which ... | Hereditary endotheliopathy, retinopathy, nephropathy, and stroke |
Is Hereditary endotheliopathy, retinopathy, nephropathy, and stroke inherited ? | How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited? Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the gene responsible for the condition is suffic... | Hereditary endotheliopathy, retinopathy, nephropathy, and stroke |
What are the treatments for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ? | How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated? At this time there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain and ... | Hereditary endotheliopathy, retinopathy, nephropathy, and stroke |
What is (are) MYH7-related scapuloperoneal myopathy ? | MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. S... | MYH7-related scapuloperoneal myopathy |
What are the symptoms of MYH7-related scapuloperoneal myopathy ? | What are the signs and symptoms of MYH7-related scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH7-related scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | MYH7-related scapuloperoneal myopathy |
What causes MYH7-related scapuloperoneal myopathy ? | What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in typ... | MYH7-related scapuloperoneal myopathy |
What are the treatments for MYH7-related scapuloperoneal myopathy ? | How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises. | MYH7-related scapuloperoneal myopathy |
What is (are) Jones syndrome ? | Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, o... | Jones syndrome |
What are the symptoms of Jones syndrome ? | What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may ... | Jones syndrome |
What causes Jones syndrome ? | What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known. | Jones syndrome |
Is Jones syndrome inherited ? | How is Jones syndrome inherited? Jones syndrome is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has... | Jones syndrome |
What are the treatments for Jones syndrome ? | How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Mai... | Jones syndrome |
What are the symptoms of ABCD syndrome ? | What are the signs and symptoms of ABCD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ABCD 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 loo... | ABCD syndrome |
What is (are) Congenital adrenal hyperplasia ? | Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of t... | Congenital adrenal hyperplasia |
What are the symptoms of Congenital adrenal hyperplasia ? | What are the signs and symptoms of Congenital adrenal hyperplasia? The signs and symptoms of congenital adrenal hyperplasia (CAH) vary based on many factors including the type of CAH, the age of diagnosis and the sex of the affected person. For example, girls with the severe form of CAH may be born with ambiguous genit... | Congenital adrenal hyperplasia |
What causes Congenital adrenal hyperplasia ? | What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutatio... | Congenital adrenal hyperplasia |
Is Congenital adrenal hyperplasia inherited ? | How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are 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 m... | Congenital adrenal hyperplasia |
How to diagnose Congenital adrenal hyperplasia ? | Is genetic testing avaliable for congenital adrenal hyperplasia? Yes, genetic testing is available for many of the genes known to cause congenital adrenal hyperplasia (CAH). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic Test... | Congenital adrenal hyperplasia |
What are the treatments for Congenital adrenal hyperplasia ? | How might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to b... | Congenital adrenal hyperplasia |
What is (are) Myelodysplastic/myeloproliferative disease ? | Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature int... | Myelodysplastic/myeloproliferative disease |
What causes Myelodysplastic/myeloproliferative disease ? | What causes myelodysplastic/myeloproliferative disease? In most cases, the cause of myelodysplastic/myeloproliferative disease is unknown, and there is limited information regarding potential causes. No specific genetic defects have been identified for any of the diseases. The specific cause of chronic myelomonocytic l... | Myelodysplastic/myeloproliferative disease |
What are the symptoms of Pachygyria with mental retardation and seizures ? | What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. If the information is available, the table below includes how often the symptom is seen in people with t... | Pachygyria with mental retardation and seizures |
What are the symptoms of Congenital dyserythropoietic anemia type 3 ? | What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Congenital dyserythropoietic anemia type 3 |
What is (are) Dextrocardia ? | Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other types of d... | Dextrocardia |
What are the symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ? | What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. If the information is avai... | Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities |
What are the symptoms of Immune defect due to absence of thymus ? | What are the signs and symptoms of Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Immune defect due to absence of thymus |
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