fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Parkes Weber syndrome ?
What are the signs and symptoms of Parkes Weber syndrome? Parkes Weber syndrome is characterized by birthmarks caused by capillary malformations on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb (which may lead to a difference in size between the affected and non-affected limb); and multiple arteriovenous fistulas (abnormal connections between arteries and veins). The Human Phenotype Ontology provides the following list of signs and symptoms for Parkes Weber 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) Abnormality of coagulation 90% Abnormality of limb bone morphology 90% Lower limb asymmetry 90% Peripheral arteriovenous fistula 90% Skeletal muscle hypertrophy 90% Telangiectasia of the skin 90% Venous insufficiency 50% Congestive heart failure 7.5% Glaucoma 7.5% Hemiplegia/hemiparesis 7.5% Migraine 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 + Parkes Weber syndrome
What are the treatments for Parkes Weber syndrome ?
How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For risks associated with heart failure, referral to a cardiologist may be warranted. Hypertrophy (overgrowth) of the limb and/or difference in size between limbs may be treated surgically by an orthopedist. Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and antibiotic medications may be prescribed as needed. + GARD + Parkes Weber syndrome
What is (are) Multifocal choroiditis ?
Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment. + GARD + Multifocal choroiditis
What are the symptoms of Multifocal choroiditis ?
What are the signs and symptoms of multifocal choroiditis? Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light. Clinical examination by an ophthalmologist reveals inflammation in the front, middle and/or back layers of the eye with multiple scattered yellow/gray-white spots in the choroid and retina. A subset of people with this condition also develop choroidal neovascular membranes (CNVMs), new blood vessels that can cause more severe vision loss. + GARD + Multifocal choroiditis
What causes Multifocal choroiditis ?
What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area. + GARD + Multifocal choroiditis
How to diagnose Multifocal choroiditis ?
How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as fluorescent spots. Vision tests may also show an enlarged blind spot or a decrease in visual clarity. Often, doctors may order blood tests to check if the symptoms are caused by a viral disease rather than MFC. + GARD + Multifocal choroiditis
What are the treatments for Multifocal choroiditis ?
How might multifocal choroiditis be treated? Multifocal choroiditis (MFC) is generally treated with steroid medication that can be taken orally or injected into the affected eye. These treatments may be successful in managing symptoms, though there is no permanent cure for the disease and symptoms may return. If a person no longer responds to steroid treatment, drugs that suppress the immune system, such as cyclosporine, may be recommended. People with more severe vision loss may also benefit from laser therapy. Frequent monitoring by an ophthalmologist is recommended to determine how well treatment is working. + GARD + Multifocal choroiditis
What is (are) Osteogenesis imperfecta ?
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations. There are various recognized forms of OI which are distinguished by their features and genetic causes. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. Treatment is supportive and aims to decrease the number of fractures and disabilities. + GARD + Osteogenesis imperfecta
What are the symptoms of Osteogenesis imperfecta ?
What are the signs and symptoms of Osteogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta. 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 dental color 90% Abnormality of dentin 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Abnormality of the tibia 90% Blue sclerae 90% Carious teeth 90% Convex nasal ridge 90% Decreased skull ossification 90% Gait disturbance 90% Intrauterine growth retardation 90% Macrocephaly 90% Pectus carinatum 90% Prominent occiput 90% Abnormal cortical bone morphology 50% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Genu valgum 50% Glaucoma 50% Hyperhidrosis 50% Joint hypermobility 50% Narrow chest 50% Opacification of the corneal stroma 50% Reduced bone mineral density 50% Scoliosis 50% Slender long bone 50% Triangular face 50% Visual impairment 50% Abnormality of the endocardium 7.5% Hearing impairment 7.5% Kyphosis 7.5% Micromelia 7.5% Pectus excavatum 7.5% Recurrent fractures 7.5% Short stature 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Umbilical hernia 7.5% Visceral angiomatosis 7.5% Wormian bones 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 + Osteogenesis imperfecta
What causes Osteogenesis imperfecta ?
What causes osteogenesis imperfecta? Osteogenesis imperfecta (OI) may be caused by changes (mutations) in any of several genes. OI is most commonly due to a mutation in either the COL1A1 or COL1A2 gene, causing OI types I through IV. These genes play a role in how the body makes collagen, a material that helps to strengthen the bones. The type and severity of OI depends on the effect that the specific mutation has on normal collagen production. OI caused by mutations in these genes is inherited in an autosomal dominant manner. In about 10% of people with OI, the COL1A1 and COL1A2 genes are normal and the condition is due to mutations in other genes; many of these people have an autosomal recessive form of OI. Other genes in which mutations may be responsible for less common types of OI, some of which have been reported in only one individual or family, include: IFITM5 (type V) SERPINF1 (type VI) CRTAP (type VII) LEPRE1, also called P3H1 (type VIII) PPIB (type IX) SERPINH1 (type X) FKBP10 (type XI) SP7 (type XII) BMP1 (type XIII) TMEM38B (type XIV) WNT1 (type XV) SPARC (type XVII) + GARD + Osteogenesis imperfecta
Is Osteogenesis imperfecta inherited ?
How is osteogenesis imperfecta inherited? Osteogenesis imperfecta (OI) is most commonly 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 features of OI. The mutated copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected person (a de novo mutation). When a person with an autosomal dominant form of OI has children, each child has a 50% (1 in 2) chance of inheriting the mutated gene. If the child inherits the mutated gene, the child's symptoms may be milder, or more severe, than those of the parent. Less commonly, OI is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with an autosomal recessive condition typically are unaffected, but each carry one mutated copy of the gene. When two carriers of an autosomal recessive form of OI have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier. + GARD + Osteogenesis imperfecta
How to diagnose Osteogenesis imperfecta ?
Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative. GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on "Testing" next to the type of OI in which you are interested. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members. + GARD + Osteogenesis imperfecta
What is (are) Sclerosing mucoepidermoid carcinoma with eosinophilia ?
Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is a type of cancer that most commonly affects the thyroid gland, but has been reported in the salivary gland as well. Signs and symptoms include a painless neck mass. Many people with mucoepidermoid carcinomas are women with Hashimoto's thyroiditis. The prevalence of SMECE is unknown, but only around 50 cases have been described in the medical literature. SMECE most commonly presents between 40 to 75 years of age. SMECE was initially considered a "low-grade" tumor, however cases of SMECE spreading locally to lymph nodes and to distant organs have been described. While data is limited, with treatment it appears that prognosis is typically good. + GARD + Sclerosing mucoepidermoid carcinoma with eosinophilia
What is (are) Brown-Sequard syndrome ?
Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation  on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), obstructed blood vessel, or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. Treatment and prognosis depends on the underlying cause of the condition. + GARD + Brown-Sequard syndrome
What are the treatments for Brown-Sequard syndrome ?
How might Brown-Sequard syndrome be treated? + GARD + Brown-Sequard syndrome
What is (are) 15q13.3 microduplication syndrome ?
15q13.3 microduplication syndrome is a rare chromosome abnormality first described in 2009. Since only a small number of individuals with this microduplication have been reported, the full range of effects is still being discovered. What is known is that the symptoms are variable, even between members of the same family. While some people with this microduplication do not have symptoms, several features seem to be common, including delayed development, intellectual disability, communication difficulties, emotional and behavioral problems (including autistic spectrum disorders), insomnia, and seizures. 15q13.3 microduplication syndrome is caused by a tiny duplication (microduplication) on the long arm of chromosome 15 that spans at least 6 genes. The features of this syndrome are thought to be caused by the presence of three copies of the genes in this region, instead of the normal two. However, it is unclear which genes contribute to the specific features. In addition, it is likely that other genetic or environmental factors influence the symptoms seen in this condition. Some cases of 15q13.3 microduplication syndrome are inherited in an autosomal dominant manner with reduced penetrance. Other cases are new (de novo). Treatment typically focuses on treating the symptoms (such as medication for seizures). + GARD + 15q13.3 microduplication syndrome
What is (are) Carpenter syndrome ?
Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner. Treatment focuses on the specific features in each affected person. Life expectancy is shortened but very variable. + GARD + Carpenter syndrome
What are the symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism ?
What are the signs and symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinitis pigmentosa, deafness, mental retardation, and hypogonadism. 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) Acanthosis nigricans 90% Cognitive impairment 90% Gynecomastia 90% Hyperinsulinemia 90% Nystagmus 90% Sensorineural hearing impairment 90% Short stature 90% Type II diabetes mellitus 90% Atypical scarring of skin 50% Brachydactyly syndrome 50% Broad foot 50% Cataract 50% Coarse facial features 50% Cryptorchidism 50% Delayed skeletal maturation 50% Dry skin 50% Obesity 50% Secondary amenorrhea 50% Short toe 50% Visual impairment 50% Cerebral cortical atrophy 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Polycystic ovaries 7.5% Abnormality of the ear - Autosomal recessive inheritance - Broad palm - Cerebellar atrophy - Cerebral atrophy - Elevated hepatic transaminases - Hypergonadotropic hypogonadism - Insulin-resistant diabetes mellitus - Intellectual disability - Pigmentary retinopathy - Rod-cone dystrophy - Sparse hair - Subcapsular cataract - 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 + Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
What is (are) Neurogenic diabetes insipidus ?
Neurogenic diabetes insipidus is a disease that causes frequent urination. This type of diabetes insipidus results from damage to the pituitary gland, which disrupts the normal storage and release of antidiuretic hormone (ADH). When this hormone reaches the kidneys, it directs them to make less urine. Damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders. To treat the ADH deficiency that results from any kind of damage to the pituitary, a synthetic hormone called desmopressin can be taken by an injection, a nasal spray, or a pill. + GARD + Neurogenic diabetes insipidus
What are the symptoms of Neurogenic diabetes insipidus ?
What are the signs and symptoms of Neurogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurogenic diabetes insipidus. 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 renal physiology 90% Dehydration 90% Diabetes insipidus 90% Weight loss 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Reduced consciousness/confusion 50% Diarrhea 7.5% Hypernatremia 7.5% Hyponatremia 7.5% Nausea and vomiting 7.5% Seizures 7.5% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Gliosis - Hypertelorism - Long philtrum - Osteopenia - Short nose - Wide nose - 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 + Neurogenic diabetes insipidus