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Is Multiple epiphyseal dysplasia inherited ? | How is multiple epiphyseal dysplasia inherited? Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsib... | Multiple epiphyseal dysplasia |
What is (are) Subacute cerebellar degeneration ? | Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degen... | Subacute cerebellar degeneration |
What are the symptoms of Subacute cerebellar degeneration ? | What are the signs and symptoms of subacute cerebellar degeneration? Signs and symptoms of subacute cerebellar degeneration, include ataxia, speech and swallowing problems, dementia (in about half of people with this condition), and difficulty walking. People with subacute cerebellar degeneration due to thiamine defici... | Subacute cerebellar degeneration |
What causes Subacute cerebellar degeneration ? | What causes subacute cerebellar degeneration? Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration. Subacute cerebellar degener... | Subacute cerebellar degeneration |
What are the symptoms of Ankylosis of teeth ? | What are the signs and symptoms of Ankylosis of teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosis of teeth. 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... | Ankylosis of teeth |
What are the symptoms of Panhypopituitarism X-linked ? | What are the signs and symptoms of Panhypopituitarism X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Panhypopituitarism X-linked. 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... | Panhypopituitarism X-linked |
What is (are) Familial exudative vitreoretinopathy ? | Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The sig... | Familial exudative vitreoretinopathy |
Is Familial exudative vitreoretinopathy inherited ? | How is familial exudative vitreoretinopathy inherited? FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheri... | Familial exudative vitreoretinopathy |
What are the treatments for Familial exudative vitreoretinopathy ? | How might familial exudative vitreoretinopathy be treated? Affected individuals with abnormal blood vessel formation in their retina can be treated with laser therapy. Surgery may also be necessary to correct retinal detachment. | Familial exudative vitreoretinopathy |
What are the symptoms of STING-associated vasculopathy with onset in infancy ? | What are the signs and symptoms of STING-associated vasculopathy with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for STING-associated vasculopathy with onset in infancy. If the information is available, the table below includes how often the symptom is seen in peopl... | STING-associated vasculopathy with onset in infancy |
What are the symptoms of Gastroschisis ? | What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. 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... | Gastroschisis |
What is (are) Thiamine responsive megaloblastic anemia syndrome ? | Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called "thiamine-responsive" because the a... | Thiamine responsive megaloblastic anemia syndrome |
What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ? | What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia syndrome. If the information is available, the table below includes how often the symptom is seen in people wi... | Thiamine responsive megaloblastic anemia syndrome |
What is (are) De Barsy syndrome ? | De Barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria); cloudy corneas; short stature; and intellectual disability. Affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor m... | De Barsy syndrome |
What are the symptoms of De Barsy syndrome ? | What are the signs and symptoms of De Barsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Barsy 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... | De Barsy syndrome |
What are the symptoms of Atrial septal defect ostium primum ? | What are the signs and symptoms of Atrial septal defect ostium primum? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial septal defect ostium primum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Atrial septal defect ostium primum |
What is (are) Centronuclear myopathy ? | Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause... | Centronuclear myopathy |
What are the symptoms of Centronuclear myopathy ? | What are the signs and symptoms of Centronuclear myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Centronuclear myopathy. 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... | Centronuclear myopathy |
What is (are) Tietze syndrome ? | Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). Signs and symptoms of this condition usually develop in young adults (before age 40) and include mild to severe chest pain that may extend into the... | Tietze syndrome |
What are the symptoms of Tietze syndrome ? | What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, ... | Tietze syndrome |
What causes Tietze syndrome ? | What causes Tietze syndrome? The exact underlying cause of Tietze syndrome is currently unknown. Some researchers have speculated that small injuries to the anterior chest wall may contribute to the development of the condition. | Tietze syndrome |
Is Tietze syndrome inherited ? | Is Tietze syndrome inherited? Tietze syndrome is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition. | Tietze syndrome |
How to diagnose Tietze syndrome ? | How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out. A th... | Tietze syndrome |
What are the treatments for Tietze syndrome ? | How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receivin... | Tietze syndrome |
What is (are) Medullary cystic kidney disease 1 ? | Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary ... | Medullary cystic kidney disease 1 |
What are the symptoms of Medullary cystic kidney disease 1 ? | What are the signs and symptoms of Medullary cystic kidney disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Medullary cystic kidney disease 1 |
What is (are) Congenital muscular dystrophy ? | Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. The severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. Common features include hypotonia; progressive musc... | Congenital muscular dystrophy |
What are the symptoms of Salcedo syndrome ? | What are the signs and symptoms of Salcedo syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Salcedo 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 ... | Salcedo syndrome |
What is (are) Cluttering ? | Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and a... | Cluttering |
What is (are) Lichen planus pigmentosus ? | Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on th... | Lichen planus pigmentosus |
What are the symptoms of Lichen planus pigmentosus ? | What are the signs and symptoms of lichen planus pigmentosus? Lichen planus pigmentosus (LPP), a rare form of lichen planus, is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected... | Lichen planus pigmentosus |
What causes Lichen planus pigmentosus ? | What causes lichen planus pigmentosus? The exact underlying cause of lichen planus pigmentosus is currently unknown. However, studies suggest that the condition may be triggered by viral infections, UV light or the application of certain oils on the hair or skin (i.e. mustard oil, amla oil). | Lichen planus pigmentosus |
How to diagnose Lichen planus pigmentosus ? | How is lichen planus pigmentosus diagnosed? A diagnosis of lichen planus pigmentosus is usually suspected based on the presence of characteristic signs and symptoms. A skin biopsy may then be ordered to confirm the diagnosis. | Lichen planus pigmentosus |
What are the treatments for Lichen planus pigmentosus ? | How might lichen planus pigmentosus be treated? Treatment for lichen planus pigmentosus is generally symptomatic and may include: Topical (applied to the skin) corticosteroids Topical calcineurin inhibitors (medications that are typically used to treat eczema) Skin lightening agents Laser therapy | Lichen planus pigmentosus |
What are the symptoms of Fetal akinesia syndrome X-linked ? | What are the signs and symptoms of Fetal akinesia syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal akinesia syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Fetal akinesia syndrome X-linked |
What are the symptoms of Holoprosencephaly, recurrent infections, and monocytosis ? | What are the signs and symptoms of Holoprosencephaly, recurrent infections, and monocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Holoprosencephaly, recurrent infections, and monocytosis. If the information is available, the table below includes how often the symptom is see... | Holoprosencephaly, recurrent infections, and monocytosis |
What is (are) Inclusion body myopathy 2 ? | Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle w... | Inclusion body myopathy 2 |
What are the symptoms of Inclusion body myopathy 2 ? | What are the signs and symptoms of Inclusion body myopathy 2? Inclusion body myopathy 2 causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is often weakness of the tibialis anterior, a muscle in the lower leg that helps control u... | Inclusion body myopathy 2 |
What causes Inclusion body myopathy 2 ? | What causes inclusion body myopathy 2? Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells. People with inclusion body myop... | Inclusion body myopathy 2 |
Is Inclusion body myopathy 2 inherited ? | How is inclusion body myopathy 2 inherited? Inclusion body myopathy 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not sho... | Inclusion body myopathy 2 |
What are the treatments for Inclusion body myopathy 2 ? | How might inclusion body myopathy 2 be treated? Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2.[5665] Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and ... | Inclusion body myopathy 2 |
What are the symptoms of Convulsions benign familial neonatal dominant form ? | What are the signs and symptoms of Convulsions benign familial neonatal dominant form? The Human Phenotype Ontology provides the following list of signs and symptoms for Convulsions benign familial neonatal dominant form. If the information is available, the table below includes how often the symptom is seen in people ... | Convulsions benign familial neonatal dominant form |
What is (are) Konigsmark Knox Hussels syndrome ? | Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. Some affected individuals can develop ophthalmoplegia (paral... | Konigsmark Knox Hussels syndrome |
What are the symptoms of Konigsmark Knox Hussels syndrome ? | What are the signs and symptoms of Konigsmark Knox Hussels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Konigsmark Knox Hussels 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... | Konigsmark Knox Hussels syndrome |
What causes Konigsmark Knox Hussels syndrome ? | What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. This is written as Arg445His ... | Konigsmark Knox Hussels syndrome |
How to diagnose Konigsmark Knox Hussels syndrome ? | Is genetic testing available for Konigsmark Knox Hussels syndrome? GeneTests lists the names of laboratories that are performing genetic testing for Konigsmark Knox Hussels syndrome. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories liste... | Konigsmark Knox Hussels syndrome |
What are the symptoms of Muscular fibrosis multifocal obstructed vessels ? | What are the signs and symptoms of Muscular fibrosis multifocal obstructed vessels? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular fibrosis multifocal obstructed vessels. If the information is available, the table below includes how often the symptom is seen in people with t... | Muscular fibrosis multifocal obstructed vessels |
What is (are) Greig cephalopolysyndactyly syndrome ? | Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head si... | Greig cephalopolysyndactyly syndrome |
What are the symptoms of Greig cephalopolysyndactyly syndrome ? | What are the signs and symptoms of Greig cephalopolysyndactyly syndrome? The symptoms of Greig cephalopolysyndactyly syndrome (GCPS) are highly variable, ranging from mild to severe. People with this condition typically have limb anomalies, which may include one or more extra fingers or toes (polydactyly), an abnormall... | Greig cephalopolysyndactyly syndrome |
What causes Greig cephalopolysyndactyly syndrome ? | What causes Greig cephalopolysyndactyly syndrome? Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome (GCPS). The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting... | Greig cephalopolysyndactyly syndrome |
Is Greig cephalopolysyndactyly syndrome inherited ? | How is Greig cephalopolysyndactyly syndrome inherited? Greig cephalopolysyndactyly syndrome (GCPS) is often inherited in an autosomal dominant pattern. This means that to be affected, a person only needs a change (mutation) in one copy of the GLI3 gene in each cell. In some cases, an affected person inherits a gene mut... | Greig cephalopolysyndactyly syndrome |
How to diagnose Greig cephalopolysyndactyly syndrome ? | Is genetic testing available for Greig cephalopolysyndactyly syndrome? Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GC... | Greig cephalopolysyndactyly syndrome |
What are the treatments for Greig cephalopolysyndactyly syndrome ? | How might Greig cephalopolysyndactyly syndrome be treated? Treatment for Greig cephalopolysyndactyly syndrome (GCPS) is symptomatic. Treatment might include elective surgical repair of polydactyly. Evaluation and treatment of hydrocephalus might additionally occur if hydrocephalus is present. Hydrocephalus is a condit... | Greig cephalopolysyndactyly syndrome |
What is (are) Kienbock's disease ? | Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma... | Kienbock's disease |
What are the symptoms of Kienbock's disease ? | What are the signs and symptoms of Kienbock's disease? Kienbock's disease most commonly affects men between the ages of 20 and 40 years, but it affects women as well. Most affected people report a history of trauma to the wrist. Symptoms can vary depending on the stage of the condition, but usually include pain that is... | Kienbock's disease |
Is Kienbock's disease inherited ? | Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition. | Kienbock's disease |
What are the treatments for Kienbock's disease ? | What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medi... | Kienbock's disease |
What are the symptoms of Mehes syndrome ? | What are the signs and symptoms of Mehes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mehes 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... | Mehes syndrome |
What is (are) Late-Onset Familial Alzheimer Disease ? | Late-onset familial Alzheimer disease is a form of familial Alzheimer disease that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD is no... | Late-Onset Familial Alzheimer Disease |
What are the symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures ? | What are the signs and symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. If the information... | Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures |
What is (are) Char syndrome ? | Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is i... | Char syndrome |
What are the symptoms of Char syndrome ? | What are the signs and symptoms of Char syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Char 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... | Char syndrome |
What are the symptoms of Sabinas brittle hair syndrome ? | What are the signs and symptoms of Sabinas brittle hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sabinas brittle hair 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... | Sabinas brittle hair syndrome |
What is (are) Mitochondrial DNA-associated Leigh syndrome ? | Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur i... | Mitochondrial DNA-associated Leigh syndrome |
What are the symptoms of Mitochondrial DNA-associated Leigh syndrome ? | What are the signs and symptoms of Mitochondrial DNA-associated Leigh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial DNA-associated Leigh syndrome. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Mitochondrial DNA-associated Leigh syndrome |
What is (are) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of th... | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
What are the symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | What are the signs and symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. If the informati... | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
What is (are) Unverricht-Lundborg disease ? | Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Af... | Unverricht-Lundborg disease |
What are the symptoms of Unverricht-Lundborg disease ? | What are the signs and symptoms of Unverricht-Lundborg disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Unverricht-Lundborg 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 MedlinePl... | Unverricht-Lundborg disease |
What is (are) Coffin-Siris syndrome ? | Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped pinky toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 g... | Coffin-Siris syndrome |
What are the symptoms of Coffin-Siris syndrome ? | What are the signs and symptoms of Coffin-Siris syndrome? The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include: Mild to severe intellectual disability Mild to severe speech delay Mild to severe delay in motor skills, such as sitting and walking Underdeveloped fingertips or toes... | Coffin-Siris syndrome |
What causes Coffin-Siris syndrome ? | What causes Coffin-Siris syndrome? Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material i... | Coffin-Siris syndrome |
How to diagnose Coffin-Siris syndrome ? | How is Coffin-Siris syndrome diagnosed? Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features i... | Coffin-Siris syndrome |
What are the treatments for Coffin-Siris syndrome ? | How might Coffin-Siris syndrome be treated? People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the sympt... | Coffin-Siris syndrome |
What is (are) Familial hemiplegic migraine type 2 ? | 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 2 |
What are the symptoms of Familial hemiplegic migraine type 2 ? | What are the signs and symptoms of Familial hemiplegic migraine type 2? 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 2 |
What are the treatments for Familial hemiplegic migraine type 2 ? | 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 2 |
What are the symptoms of Mental retardation syndrome, Belgian type ? | What are the signs and symptoms of Mental retardation syndrome, Belgian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation syndrome, Belgian type. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Mental retardation syndrome, Belgian type |
What is (are) Lujan syndrome ? | Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of ... | Lujan syndrome |
What are the symptoms of Lujan syndrome ? | What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan 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... | Lujan syndrome |
What are the symptoms of Charcot-Marie-Tooth disease type 1C ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Charcot-Marie-Tooth disease type 1C |
What is (are) Polycystic kidney disease ? | Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become... | Polycystic kidney disease |
What are the symptoms of Polycystic kidney disease ? | What are the signs and symptoms of Polycystic kidney disease? Signs and symptoms vary greatly from person to person. But affected individuals typically develop multiple cysts in both kidneys, which impair their ability to filter waste products from the blood. Later in the disease, the cysts cause the kidneys to become ... | Polycystic kidney disease |
What is (are) Microcephaly ? | Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life. Some children with microcephaly have normal intelligence and development. How... | Microcephaly |
What are the symptoms of Scott Bryant Graham syndrome ? | What are the signs and symptoms of Scott Bryant Graham syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scott Bryant Graham syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Scott Bryant Graham syndrome |
What are the symptoms of Graham-Cox syndrome ? | What are the signs and symptoms of Graham-Cox syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham-Cox 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 Dicti... | Graham-Cox syndrome |
What is (are) Polydactyly ? | Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in associat... | Polydactyly |
What is (are) Hypotrichosis-lymphedema-telangiectasia syndrome ? | Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is though... | Hypotrichosis-lymphedema-telangiectasia syndrome |
What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome ? | What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with... | Hypotrichosis-lymphedema-telangiectasia syndrome |
What are the symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome ? | What are the signs and symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoparathyroidism-retardation-dysmorphism syndrome. If the information is available, the table below includes how often the symptom is seen in peopl... | Hypoparathyroidism-retardation-dysmorphism syndrome |
What is (are) Primary lateral sclerosis ? | Primary lateral sclerosis is a type of motor neuron disease, where nerve cells that control voluntary muscle movement breakdown and die. In primary lateral sclerosis only the upper motor neurons in the brain are affected. Symptoms often begin with problems in the legs (e.g., weakness, stiffness, spasticity, and balance... | Primary lateral sclerosis |
What are the symptoms of Primary lateral sclerosis ? | What are the signs and symptoms of Primary lateral sclerosis? Primary lateral sclerosis (PLS) causes weakness in the voluntary muscles, such as those used to control the legs, arms and tongue. PLS can happen at any age, but it is more common after age 40. A subtype of PLS, known as juvenile primary lateral sclerosis, b... | Primary lateral sclerosis |
How to diagnose Primary lateral sclerosis ? | How is primary lateral sclerosis diagnosed? There is no single test that confirms a diagnosis of primary lateral sclerosis (PLS). Because the disease can mimic signs and symptoms of other neurological diseases such as multiple sclerosis and amyotrophic lateral sclerosis (ALS), several tests are done to rule out other d... | Primary lateral sclerosis |
What is (are) Neuronal ceroid lipofuscinosis 10 ? | Neuronal ceroid lipofuscinosis 10 (CLN10-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in ... | Neuronal ceroid lipofuscinosis 10 |
What are the symptoms of Neuronal ceroid lipofuscinosis 10 ? | What are the signs and symptoms of Neuronal ceroid lipofuscinosis 10 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 10 . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | Neuronal ceroid lipofuscinosis 10 |
What is (are) WaterhouseFriderichsen syndrome ? | WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. Most patients with this condition are children, although a... | WaterhouseFriderichsen syndrome |
What are the symptoms of WaterhouseFriderichsen syndrome ? | What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patient... | WaterhouseFriderichsen syndrome |
What causes WaterhouseFriderichsen syndrome ? | What causes Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrh... | WaterhouseFriderichsen syndrome |
What are the treatments for WaterhouseFriderichsen syndrome ? | How might Waterhouse-Friderichsen syndrome be treated? Treatment may include antibiotics and glucocorticoids. Other treatment is symptomatic and supportive. | WaterhouseFriderichsen syndrome |
What are the symptoms of Tucker syndrome ? | What are the signs and symptoms of Tucker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tucker 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... | Tucker syndrome |
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