bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 3. 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 pinna - Absent phalangeal crease - Autosomal dominant inheritance - Camptodactyly - Delayed skeletal maturation - Flat face - Hypertelorism - Intellectual disability, mild - Joint contracture of the hand - Malar flattening - Micropenis - Muscular hypotonia - Nevus - Retrognathia - Short neck - Small hypothenar eminence - Small thenar eminence - Spina bifida occulta - Telecanthus - Torticollis - Webbed neck - 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.
Factor V Leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a critical role in the normal formation of blood clots in response to an injury. People can inherit one or two copies of the factor V Leiden gene mutation. Those who inherit one copy are called heterozygotes. People who inherit two copies of the mutation, one from each parent, are called homozygotes. Having the factor V Leiden mutation increases your risk for developing a clot in your legs called a deep venous thrombosis (DVT). It also increases your risk of developing a clot that travels through the bloodstream and lodges in the lungs, called a pulmonary embolism (PE).
What are the signs and symptoms of factor V Leiden thrombophilia? Individuals affected by factor V Leiden thrombophilia have an increased risk of developing blood clots. The severity of factor V Leiden thrombophilia is extremely variable. Many individuals with the factor V Leiden allele never develop a blood clot. Although most individuals with factor V thrombophilia do not experience their first thrombotic event until adulthood, some have recurrent thromboembolism before age 30 years. The chance a person will develop a blood clot is affected by the number of factor V Leiden mutations, the presence of coexisting genetic abnormalities, and non-genetic risk factors.  Non-genetic risk factors include surgery, long periods of not moving (like sitting on a long airplane ride), birth control pills and other female hormones, childbirth within the last 6 months, and traumas or fractures. Individuals who inherit one copy of the factor V Leiden mutation have a fourfold to eightfold increase in the chance of developing a clot.  Homozygotes (people who inherit two factor V Leiden mutations) may have up to 80 times the usual risk of developing a blood clot. Considering that the risk of developing an abnormal blood clot averages about 1 in 1,000 per year in the general population, the presence of one copy of the factor V Leiden mutation increases that risk to 4 to 8 in 1,000, and having two copies of the mutation may raise the risk as high as 80 in 1,000. People with factor V Leiden have an increased chance of having a blood clot that forms in large veins in the legs (deep venous thrombosis, or DVT) or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism, or PE). Symptoms of deep vein thrombosis usually include leg pain, tenderness, swelling, increased warmth or redness in one leg. The symptoms of pulmonary embolism usually include cough, chest pain, shortness of breath or rapid heartbeat or breathing. To learn more about the symptoms of DVT and PE, click here.
What causes factor V Leiden thrombophilia? Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury.  Genes are our bodys instructions for making proteins. The factor V gene instructs the body how to make a protein called coagulation factor V. Coagulation factor V is involved in a series of chemical reactions that hold blood clots together. A molecule called activated protein C (APC) prevents blood clots from growing too large by inactivating factor V.
How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father.  Individuals who inherit one copy of the factor V Leiden mutation from a parent are called heterozygotes. Heterozygotes have a 50% chance with each pregnancy of passing the mutated gene to their offspring (and therefore they also have a 50% chance of having a child who does not inherit the gene mutation). People who inherit two copies of the mutation, one from each parent, are called homozygotes. Homozygotes will always pass one copy of the mutated gene to their offspring. If both parents are heterozygotes (carry one factor V Leiden mutation) than they would have a 25% chance of having a child with two factor V Leiden mutations, a 25% chance of having a child with no mutations, and a 50% chance of having a child with one mutation.
How is factor V Leiden thrombophilia diagnosed? No clinical features (signs and/or symptoms) are specific for factor V Leiden thrombophilia. The diagnosis of factor V Leiden thrombophilia requires a coagulation screening test or DNA analysis of F5, the gene for factor V, to identify the specific mutation that causes this condition. The APC (activated protein C) resistance assay, a coagulation screening test, measures the anticoagulant response to APC. This screening test has a sensitivity and specificity for factor V Leiden approaching 100%. The sensitivity of a test is a measure of the test's ability to detect a positive result when someone has the condition, while the specificity is a measure of the test's ability to identify negative results.Targeted mutation analysis (a type of DNA test) of the F5 gene for the Leiden mutation is considered definitive and has a mutation detection frequency of approximately 100%. This means that approximately all individuals who have the factor V Leiden mutation will be detected by this genetic test. It is generally recommended that individuals who test positive by another means should then have the DNA test both for confirmation and to distinguish heterozygotes (individuals with a mutation in one copy of the gene) from homozygotes (individuals with mutations in both copies of the gene).
How might factor V Leiden be treated? The management of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants. Anticoagulants such as heparin and warfarin are given for varying amounts of time depending on the person's situation. It is not usually recommended that people with factor V Leiden be treated lifelong with anticoagulants if they have had only one DVT or PE, unless there are additional risk factors present. Having had a DVT or PE in the past increases a person's risk for developing another one in the future, but having factor V Leiden does not seem to add to the risk of having a second clot. In general, individuals who have factor V Leiden but have never had a blood clot are not routinely treated with an anticoagulant. Rather, these individuals are counseled about reducing or eliminating other factors that may add to one's risk of developing a clot in the future. In addition, these individuals may require temporary treatment with an anticoagulant during periods of particularly high risk, such as major surgery. Factor V Leiden increases the risk of developing a DVT during pregnancy by about seven-fold. Women with factor V Leiden who are planning pregnancy should discuss this with their obstetrician and/or hematologist. Most women with factor V Leiden have normal pregnancies and only require close follow-up during pregnancy. For those with a history of DVT or PE, treatment with an anticoagulant during a subsequent pregnancy can prevent recurrent problems.
What are the signs and symptoms of Cleft hand absent tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft hand absent tibia. 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) Split hand 90% Abnormality of the tibia 50% Limitation of joint mobility 50% Abnormality of the femur 7.5% Abnormality of the fibula 7.5% Abnormality of the ulna 7.5% Brachydactyly syndrome 7.5% Finger syndactyly 7.5% Omphalocele 7.5% Overfolded helix 7.5% Patellar aplasia 7.5% Popliteal pterygium 7.5% Postaxial hand polydactyly 7.5% Preaxial hand polydactyly 7.5% Absent forearm - Absent tibia - Aplasia/Hypoplasia of the ulna - Autosomal dominant inheritance - Cupped ear - Monodactyly (hands) - Short hallux - Split foot - 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.
Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner with variable clinical expression. This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1, the TGFBR2,  the SMAD3 or the TGFB2 genes. It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient.
What are the signs and symptoms of Loeys-Dietz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz 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) Aneurysm 90% Aortic dissection 90% Arterial dissection 90% Dilatation of the ascending aorta 90% Patent ductus arteriosus 90% Pes planus 90% Uterine rupture 90% Arachnodactyly 50% Atypical scarring of skin 50% Blue sclerae 50% Camptodactyly of finger 50% Cleft palate 50% Disproportionate tall stature 50% Hypoplasia of the zygomatic bone 50% Scoliosis 50% Striae distensae 50% Abnormality of coagulation 7.5% Craniosynostosis 7.5% Joint dislocation 7.5% Joint hypermobility 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Sudden cardiac death 7.5% Thin skin 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.
An ovarian sex cord tumor with annular tubules (SCTAT) is a tumor that grows from cells in the ovaries known as sex cord cells.  As these cells grow, they form tube-like shapes in the tumor.  SCTATs can develop in one or both ovaries, and may cause symptoms such as puberty at an exceptionally young age (precocious puberty), irregular menstrual cycles, or post-menopausal bleeding.  Most ovarian SCTATs are benign. However, because there is a chance that an SCTAT may be malignant, treatment may include surgery to remove the tumor.
What causes an ovarian sex cord tumor with annular tubules? Approximately one third of ovarian sex cord tumors with annual tubules (SCTATs) develop because of an underlying genetic condition called Peutz Jeghers syndrome (PJS), which is caused by a mutation in the STK11 gene.  In these genetic cases, many small SCTATs develop in both ovaries and are almost always benign.  The remaining two thirds of ovarian SCTATs are not related to a genetic condition and develop as a single tumor in one ovary; up to 25% of SCTATs in this group may be malignant.  Ovarian SCTATs not related to PJS have no known cause and are believed to occur by chance.
What are the signs and symptoms of Orofaciodigital syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 5. 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) Median cleft lip 90% Postaxial hand polydactyly 90% Abnormality of the oral cavity 7.5% Brachydactyly syndrome 7.5% Epicanthus 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Preaxial hand polydactyly 7.5% Aganglionic megacolon 5% Agenesis of corpus callosum 5% Bifid uvula 5% Cleft palate 5% Scoliosis 5% Autosomal recessive inheritance - Frontal bossing - Hypertelorism - Intellectual disability - Lobulated tongue - Postaxial foot polydactyly - 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.
Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency. Only 10 cases have been reported in the medical literature. While the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait.  Based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that Michels, Malpuech, Carnevale and Mingarelli syndromes represent a spectrum and should be referred to a 3MC syndrome (for Malpuech-Michels-Mingarelli-Carnevale).
What are the signs and symptoms of Michels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michels 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 eye movement - Abnormality of the anterior chamber - Autosomal recessive inheritance - Blepharophimosis - Broad foot - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Conductive hearing impairment - Conjunctival telangiectasia - Coronal craniosynostosis - Dental crowding - Epicanthus inversus - Glaucoma - Growth delay - Highly arched eyebrow - Hydronephrosis - Hypertelorism - Intellectual disability, mild - Lambdoidal craniosynostosis - Microcephaly - Omphalocele - Postnatal growth retardation - Ptosis - Radioulnar synostosis - Sacral dimple - Short 5th finger - Short foot - Single interphalangeal crease of fifth finger - Skull asymmetry - Spina bifida occulta - Supernumerary nipple - Underdeveloped supraorbital ridges - Wide anterior fontanel - 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.
What are the signs and symptoms of 8q12 microduplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8q12 microduplication 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 chromosome segregation 90% Blepharophimosis 90% Cognitive impairment 90% Highly arched eyebrow 90% Muscular hypotonia 90% Sensorineural hearing impairment 90% Strabismus 90% Ventricular septal defect 90% Abnormality of calvarial morphology 50% Abnormality of the cranial nerves 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Epicanthus 50% Long philtrum 50% Narrow mouth 50% Short toe 50% Telecanthus 50% Vesicoureteral reflux 50% Wide nasal bridge 50% 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.
Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. 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.
Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine. Symptoms develop gradually and may include swelling, fatigue, weight gain, and high blood pressure. In many cases, the underlying cause of membranous nephropathy is not known. Some cases are associated with other conditions (lupus), infections (hepatitis B and C), cancer or as a side effect of certain medications. The goal of treatment is to reduce symptoms and slow the progression of the disease.