sarnsrun/medquad huggingface dataset:
Topic: Hypophosphatasia
Question: What is (are) Hypophosphatasia ?
Answer: Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA.
Source: GARD
Topic: Hypophosphatasia
Question: What causes Hypophosphatasia ?
Answer: What causes hypophosphatasia? Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzyme, thus affecting the mineralization process. A shortage of the enzyme also causes other substances to build up in the body. These abnormalities lead to the features of HPP. ALPL mutations that almost completely eliminate alkaline phosphatase activity generally cause the more severe forms of HPP, while mutations that reduce activity to a lesser extent often cause the milder forms of HPP.
Source: GARD
Topic: Hypophosphatasia
Question: Is Hypophosphatasia inherited ?
Answer: How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) 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 (ALPL) 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 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. The milder forms, especially adult HPP and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner - depending on the effect the ALPL mutation has on enzyme activity. In autosomal dominant inheritance, having a mutation in only one copy of the ALPL gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant HPP has children, each child has a 50% (1 in 2) chance to inherit that mutation. Most people with autosomal dominant HPP have inherited the mutation from a parent who may or may not have symptoms. Not all people with a mutation that causes autosomal dominant HPP develop symptoms of the condition. While it is possible to have autosomal dominant HPP due to a new mutation that was not inherited (a de novo mutation), this has never been reported in HPP.
Source: GARD
Topic: Hypophosphatasia
Question: What are the treatments for Hypophosphatasia ?
Answer: How might hypophosphatasia be treated? Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infants, some of which need a tracheostomy, which can lead to problems with speech and language development and tolerance of oral feeds Physiotherapy, occupational therapy and chronic pain management for pain and motor difficulty Surgery for fractures that fail to heal More recently, research has shown positive effects of human recombinant enzyme replacement therapy (ERT), called asfotase alfa, on people who began having symptoms before 6 months of age. There reportedly have been significant improvements in the X-ray appearances of bone tissue, along with improvements in growth, respiratory function, motor development and calcium homeostasis after 612 months of treatment. The children in the original study have now received more than three years of treatment, without apparent major side effects, and with continuing improvement in affected systems. Asfotase alfa appears to be a valuable emerging therapy for the treatment of bone manifestations in people with pediatric-onset HPP. In October of 2015 the FDA approved asfotase alfa, sold as Strensiq. Bone marrow and stem cell transplantation in infancy and childhood have improved the severity of the disease, but have not provided long term improvement.
Source: GARD
Topic: Kapur Toriello syndrome
Question: What are the symptoms of Kapur Toriello syndrome ?
Answer: What are the signs and symptoms of Kapur Toriello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kapur Toriello 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 90% Aplasia/Hypoplasia affecting the eye 90% Chorioretinal coloboma 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Oral cleft 90% Abnormality of female external genitalia 50% Constipation 50% Hypoplasia of penis 50% Intestinal malrotation 50% Short neck 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atresia of the external auditory canal 7.5% Patent ductus arteriosus 7.5% Preauricular skin tag 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Abnormality of the urinary system - Atria septal defect - Autosomal recessive inheritance - Bilateral single transverse palmar creases - Bulbous nose - Camptodactyly of finger - Cataract - Cleft palate - Cleft upper lip - Clinodactyly of the 5th toe - Conductive hearing impairment - Cryptorchidism - Hypoplastic labia majora - Intellectual disability, progressive - Intellectual disability, severe - Intrauterine growth retardation - Iridoretinal coloboma - Joint contracture of the hand - Low hanging columella - Low posterior hairline - Low-set ears - Micropenis - Microphthalmia - Overlapping fingers - Pachygyria - Polymicrogyria - Scoliosis - Seizures - Short thumb - Single transverse palmar crease - 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.
Source: GARD
Topic: Spinal muscular atrophy with respiratory distress 1
Question: What are the symptoms of Spinal muscular atrophy with respiratory distress 1 ?
Answer: What are the signs and symptoms of Spinal muscular atrophy with respiratory distress 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy with respiratory distress 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) Autosomal recessive inheritance - Camptodactyly of finger - Constipation - Decreased fetal movement - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Denervation of the diaphragm - Diaphragmatic eventration - Diaphragmatic paralysis - Distal amyotrophy - Distal muscle weakness - EMG: neuropathic changes - Failure to thrive - Hyperhidrosis - Hyporeflexia - Inspiratory stridor - Intrauterine growth retardation - Limb muscle weakness - Peripheral axonal degeneration - Premature birth - Respiratory failure - Small for gestational age - Spinal muscular atrophy - Tachypnea - Talipes equinovarus - Urinary incontinence - Ventilator dependence with inability to wean - Weak cry - 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.
Source: GARD
Topic: Glutaric acidemia type II
Question: What is (are) Glutaric acidemia type II ?
Answer: Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet.
Source: GARD
Topic: Glutaric acidemia type II
Question: What are the treatments for Glutaric acidemia type II ?
Answer: How might glutaric acidemia type II be treated? The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may develop life-long learning problems. Individuals with glutaric acidemia type II should consult with a metabolic doctor and a dietician who can help to develop an appropriate dietary plan. Some treatments may be recommended for some children but not for others. When necessary, treatment should be continued throughout the lifetime. The following treatments are often recommended:     -Avoidance of fasting. Infants and young children with glutaric acidemia type II should eat frequent meals in order to prevent hypoglycemia and metabolic crises.     -A low-fat, low-protein, high-carbohydrate diet may be advised.     -Riboflavin, L-carnitine and glycine supplements may be needed. These supplements help the body create energy.     -Alert the child's doctor if they should become ill, as illness can trigger a metabolic crisis.
Source: GARD
Topic: Neurofibromatosis type 1
Question: What is (are) Neurofibromatosis type 1 ?
Answer: Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly from person to person. NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner. In approximately 50% of cases, the condition is inherited from an affected parent. Other cases may result from new (de novo) mutations in the gene which occur in people with no history of the condition in their family. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Neurofibromatosis type 1
Question: What causes Neurofibromatosis type 1 ?
Answer: What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 1. People with neurofibromatosis type 1 are typically born with one mutated copy of the NF1 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF1 gene must be altered. The mutation in the second copy of the NF1 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.
Source: GARD
Topic: Neurofibromatosis type 1
Question: Is Neurofibromatosis type 1 inherited ?
Answer: How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of 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 NF1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Source: GARD
Topic: Neurofibromatosis type 1
Question: How to diagnose Neurofibromatosis type 1 ?
Answer: Is genetic testing available for neurofibromatosis type 1? Although it is usually not necessary for diagnosis, genetic testing is available for NF1, the gene known to cause neurofibromatosis type 1. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is neurofibromatosis type 1 diagnosed? The diagnosis of neurofibromatosis type 1 (NF1) is usually based on the presence of characteristic signs and symptoms. Specifically, doctors look for two or more of the following features to make a diagnosis of NF1: Six or more cafe-au-lait spots (measuring more than 5 mm across in children and more than 15 mm across in adolescents and adults) Two or more neurofibromas of any type or one plexiform neurofibroma (a neurofibroma that involves many nerves) Freckling in the underarm and/or groin Optic glioma Two or more Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision) Bone abnormalities including sphenoid dysplasia (absence of bone surrounding the eye) or tibial pseudarthrosis (incomplete healing of a fracture) A parent, sibling, or child who has been diagnosed with NF1 Because many of the features associated with NF1 develop with age, it can sometimes take several years to make a diagnosis in children without a family history of the condition. Genetic testing for changes (mutations) in the NF1 gene is available, but it is often not necessary. Prenatal testing and preimplantation genetic diagnosis is only an option if the disease-causing mutation in the family is known.
Source: GARD
Topic: Neurofibromatosis type 1
Question: What are the treatments for Neurofibromatosis type 1 ?
Answer: How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant peripheral nerve sheath tumors are generally treated with complete surgical excision (when possible) although some cases may require the addition of chemotherapy and/or radiation therapy. Most optic gliomas associated with NF1 do not cause any symptoms and therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1. GeneReview's Web site offers more specific information regarding the treatment and management of NF1. Please click on the link to access this resource.
Source: GARD
Topic: Lichen sclerosus
Question: What is (are) Lichen sclerosus ?
Answer: Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering. It often lasts for years and can cause permanent scarring. The underlying cause of lichen sclerosus is not fully understood but it is thought to relate to an autoimmune process. Treatment may include topical steroids or other types of topical creams and/or surgery.
Source: GARD
Topic: Lichen sclerosus
Question: What are the symptoms of Lichen sclerosus ?
Answer: What are the signs and symptoms of Lichen sclerosus? The symptoms are the same in children and adults. Early in the disease, small, subtle white spots appear. These areas are usually slightly shiny and smooth. As time goes on, the spots develop into bigger patches, and the skin surface becomes thinned and crinkled. As a result, the skin tears easily, and bright red or purple discoloration from bleeding inside the skin is common.  Symptoms vary depending on the area affected. Patients experience different degrees of discomfort. When lichen sclerosus occurs on parts of the body other than the genital area, most often there are no symptoms, other than itching. If the disease is severe, bleeding, tearing, and blistering caused by rubbing or bumping the skin can cause pain. The Human Phenotype Ontology provides the following list of signs and symptoms for Lichen sclerosus. 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% Abnormality of reproductive system physiology 90% Abnormality of the gastrointestinal tract 90% Aplasia/Hypoplasia of the skin 90% Constipation 90% Hyperkeratosis 90% Lichenification 90% Pruritus 90% Autoimmunity 7.5% Psoriasis 7.5% Vaginal neoplasm 7.5% Verrucae 7.5% Autosomal dominant inheritance - Squamous cell carcinoma - 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.
Source: GARD
Topic: Lichen sclerosus
Question: What causes Lichen sclerosus ?
Answer: What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of the skin. Other autoimmune conditions are reported to occur more frequently than expected in people with lichen sclerosis. In some cases, lichen sclerosus appears on skin that has been damaged or scarred from previous injury or trauma.
Source: GARD
Topic: Lichen sclerosus
Question: What are the treatments for Lichen sclerosus ?
Answer: How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearance to return to normal. Other treatments that may be used instead of steroid creams, or in combination with steroid creams, include calcipotriol cream, topical and systemic retinoids (acitretin), and/or systemic steroids. If the vaginal opening has narrowed, dilators may be needed. In rare cases, surgery is necessary to allow for sexual intercourse. The condition sometimes causes the vaginal opening to narrow or close again after surgery is initially successful. Additional information about treatment of lichen sclerosus can be viewed on Medscape's Web site.
Source: GARD