fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Polyarteritis nodosa ?
What are the signs and symptoms of Polyarteritis nodosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyarteritis nodosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormal pyramidal signs 90% Abnormality of temperature regulation 90% Aneurysm 90% Arthralgia 90% Asthma 90% Cutis marmorata 90% Edema of the lower limbs 90% Hemiplegia/hemiparesis 90% Hypertensive crisis 90% Hypertrophic cardiomyopathy 90% Migraine 90% Myalgia 90% Nephropathy 90% Orchitis 90% Paresthesia 90% Polyneuropathy 90% Renal insufficiency 90% Skin rash 90% Subcutaneous hemorrhage 90% Vasculitis 90% Weight loss 90% Arrhythmia 50% Behavioral abnormality 50% Coronary artery disease 50% Gangrene 50% Gastrointestinal hemorrhage 50% Gastrointestinal infarctions 50% Leukocytosis 50% Seizures 50% Skin ulcer 50% Urticaria 50% Abnormality of extrapyramidal motor function 7.5% Abnormality of the pericardium 7.5% Abnormality of the retinal vasculature 7.5% Acrocyanosis 7.5% Arterial thrombosis 7.5% Arthritis 7.5% Ascites 7.5% Autoimmunity 7.5% Congestive heart failure 7.5% Encephalitis 7.5% Hemobilia 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Myositis 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Pancreatitis 7.5% Retinal detachment 7.5% Ureteral stenosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Polyarteritis nodosa
What are the treatments for Polyarteritis nodosa ?
How might polyarteritis nodosa be treated? Few people with polyarteritis nodosa have mild disease that remains stable with nonaggressive therapy; because of the risk for serious health complications, aggressive therapy is often recommended. Treatment may include prednisone in divided doses. Additional therapy, such as cyclophosphamide, chlorambucil, azathioprine, methotrexate, dapsone, cyclosporine, or plasma exchange, may also be recommended. The goal of therapy is remission (to have no active disease) within 6 months or so. At this point the person may be maintained on cyclophosphamide (or other therapy) for a year, before it is tapered and withdrawn over the course of 3 to 6 months.It is very important that people undergoing treatment for polyarteritis nodosa be monitored closely for toxic effects of the drugs or for signs of worsening disease. This monitoring may involve blood counts, urinalyses, serum chemistries, and the ESR on at least monthly intervals. + GARD + Polyarteritis nodosa
What is (are) Ehlers-Danlos syndrome, vascular type ?
Ehlers-Danlos syndrome (EDS), vascular type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. EDS, vascular type is caused by changes (mutations) in the COL3A1 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. + GARD + Ehlers-Danlos syndrome, vascular type
What causes Ehlers-Danlos syndrome, vascular type ?
What causes Ehlers-Danlos syndrome, vascular type? Ehlers-Danlos syndrome (EDS), vascular type is caused by changes (mutations) in the COL3A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type III collagen, specifically, is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. Mutations in the COL3A1 gene lead to defects in type III collagen molecules and/or reduced amounts of functional type III collagen. This causes the many signs and symptoms associated with EDS, vascular type. + GARD + Ehlers-Danlos syndrome, vascular type
Is Ehlers-Danlos syndrome, vascular type inherited ?
Is Ehlers-Danlos syndrome, vascular type inherited? Ehlers-Danlos syndrome (EDS), vascular type 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. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with EDS, vascular type has a 50% chance with each pregnancy of passing along the altered gene to his or her child. + GARD + Ehlers-Danlos syndrome, vascular type
How to diagnose Ehlers-Danlos syndrome, vascular type ?
How is Ehlers-Danlos syndrome, vascular type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), vascular type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL3A1 gene can then be ordered to confirm the diagnosis. Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with EDS, vascular type have abnormalities in type III collagen. + GARD + Ehlers-Danlos syndrome, vascular type
What are the treatments for Ehlers-Danlos syndrome, vascular type ?
How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. It is, therefore, important to seek immediate medical attention for any sudden, unexplained pain as emergency surgery may be indicated. Pregnant women with EDS, vascular type should be followed by a maternal-fetal specialists at a high-risk perinatal center. Periodic screening may be recommended to diagnose aneurysms or other problems that may not be associated with obvious symptoms. People with the EDS, vascular type should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged. GeneReview's Web site offers more specific information about the treatment and management of EDS, vascular type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan. + GARD + Ehlers-Danlos syndrome, vascular type
What are the symptoms of Retinal cone dystrophy 1 ?
What are the signs and symptoms of Retinal cone dystrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of color vision 90% Abnormality of retinal pigmentation 90% Photophobia 90% Visual impairment 90% Autosomal dominant inheritance - Bull's eye maculopathy - Diffuse retinal cone degeneration - Progressive visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Retinal cone dystrophy 1
What is (are) GM1 gangliosidosis ?
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 onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive. + GARD + GM1 gangliosidosis
What causes GM1 gangliosidosis ?
What causes GM1 gangliosidosis? All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called lysosomes, where it helps break down certain molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for nerve cell function in the brain. Mutations in the GLB1 gene may lower or eliminate the activity of the -galactosidase enzyme, keeping GM1 ganglioside from being broken down. As a result, it accumulates to toxic levels in tissues and organs, particularly in the brain. This accumulation leads to the destruction of nerve cells, causing the features of the condition. In general, people with higher enzyme activity levels usually have milder features than those with lower activity levels. + GARD + GM1 gangliosidosis
Is GM1 gangliosidosis inherited ?
How is GM1 gangliosidosis inherited? GM1 gangliosidosis is a hereditary condition that is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier GM1 gangliosidosis is type-specific within families. This means that people with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family. + GARD + GM1 gangliosidosis
How to diagnose GM1 gangliosidosis ?
Is genetic testing available for GM1 gangliosidosis? Yes. A diagnosis of GM1 gangliosidosis (GM1), can be made by either enzyme analysis of the beta-galactosidase enzyme, or by molecular genetic testing of the GLB1 gene. Despite the availability of molecular genetic testing, the mainstay of diagnosis will likely continue to be enzyme activity because of cost and difficulty in interpreting unclear results. However, enzyme activity may not be predictive of carrier status in relatives of affected people. Carrier testing for at-risk family members is done with molecular genetic testing, and is possible if the disease-causing mutations in the family are already known. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. + GARD + GM1 gangliosidosis
What are the treatments for GM1 gangliosidosis ?
How might GM1 gangliosidosis be treated? There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. For example, anticonvulsants may initially control seizures. Supportive treatments may include proper nutrition and hydration, and keeping the affected individual's airway open. Bone marrow transplantation was reportedly successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment due to its success in other lysosomal storage disorders. Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials. Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy. + GARD + GM1 gangliosidosis
What is (are) Chromosome 3p- syndrome ?
Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. + GARD + Chromosome 3p- syndrome
What causes Chromosome 3p- syndrome ?
What causes chromosome 3p- syndrome? In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent. + GARD + Chromosome 3p- syndrome
Is Chromosome 3p- syndrome inherited ?
Is chromosome 3p- syndrome inherited? In most cases, chromosome 3p- syndrome occurs for the first time in the affected person (de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. This means that a person with chromosome 3p- syndrome has a 50% chance with each pregnancy of passing the condition on to his or her child. In theory, it is possible for a parent to not have the deletion in their chromosomes on a blood test, but have the deletion in some of their egg or sperm cells only. This phenomenon is called germline mosaicism. In these rare cases, it would be possible to have another child with the deletion. To our knowledge, this has not been reported with chromosome 3p- syndrome. People interested in learning more about genetic risks to themselves or family members should speak with a genetics professional. + GARD + Chromosome 3p- syndrome
How to diagnose Chromosome 3p- syndrome ?
How is chromosome 3p- syndrome diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 3p- syndrome. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a duplication of a specific region of 3p. Array CGH - a technology that detects deletions that are too small to be seen on karyotype. + GARD + Chromosome 3p- syndrome
What are the treatments for Chromosome 3p- syndrome ?
How might chromosome 3p- syndrome be treated? Because chromosome 3p- syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, children with delayed motor milestones (i.e. walking) and/or muscle problems may be referred for physical or occupational therapy. Severe feeding difficulties may be treated temporarily with a nasogastric tube or a gastrostomy tube to ensure that a baby or child gets enough nutrients. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Surgery may be required to treat certain physical abnormalities such as cleft palate or congenital heart defects, if present. Please speak to your healthcare provider if you have any questions about your personal medical management plan. + GARD + Chromosome 3p- syndrome
What is (are) 1q21.1 microdeletion syndrome ?
1q21.1 microdeletion syndrome is a newly described chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). It has been described in 46 patients to date. Some people with this deletion have no observable features; while others have variable features that can include small head, developmental delay (speech and motor delays), mild intellectual disability, distinctive facial features, and eye abnormalities. Other findings can include seizures as well as abnormalities of the heart, skeleton, and urinary system. Psychiatric and behavioral features can include autism spectrum disorders, schizophrenia, attention deficit hyperactivity disorder and sleep disorders. This syndrome is caused by a deletion in a specific region of 1q21.1, which is distinct from the deletion region that causes TAR syndrome. + GARD + 1q21.1 microdeletion syndrome
What are the symptoms of 1q21.1 microdeletion syndrome ?
What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 50% Abnormality of the palate 50% Cognitive impairment 50% Deeply set eye 50% Epicanthus 50% Frontal bossing 50% Long philtrum 50% Microcephaly 50% Short stature 50% Abnormality of the aorta 7.5% Abnormality of the cardiac septa 7.5% Abnormality of thumb phalanx 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Brachydactyly syndrome 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Hypermetropia 7.5% Intrauterine growth retardation 7.5% Iris coloboma 7.5% Joint hypermobility 7.5% Muscular hypotonia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Scoliosis 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short foot 7.5% Sleep disturbance 7.5% Strabismus 7.5% Talipes 7.5% Toe syndactyly 7.5% Vesicoureteral reflux 7.5% Autosomal dominant inheritance - Broad hallux - Broad thumb - Bulbous nose - Coarctation of aorta - Incomplete penetrance - Intellectual disability - Schizophrenia - Transposition of the great arteries - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + 1q21.1 microdeletion syndrome
What are the symptoms of Lymphedema and cerebral arteriovenous anomaly ?
What are the signs and symptoms of Lymphedema and cerebral arteriovenous anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema and cerebral arteriovenous anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 90% Lymphedema 90% Autosomal dominant inheritance - Pulmonary hypertension - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Lymphedema and cerebral arteriovenous anomaly