fenil210/Med-Lamma huggingface dataset:
What is (are) Gardner syndrome ?
Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes (mutations) in the APC gene and inherited in an autosomal dominant manner. Although there is no cure for Gardner syndrome, management options are available to reduce the risk of cancer. These may include high risk screening, prophylactic surgeries and/or certain types of medications. + GARD + Gardner syndrome
What causes Gardner syndrome ?
What causes Gardner syndrome? Gardner syndrome is caused by changes (mutations) in the APC gene, which is called a "tumor suppressor." Tumor suppressor genes encode proteins that are part of the system that controls cell growth and division. These proteins ensure that cells do not grow and divide too quickly or in an abnormal manner. Mutations in the APC gene lead to uncontrolled cell growth which results in the development of the polyps, tumors and cancers that can be associated with Gardner syndrome. The symptoms found in each person and the severity of the condition depend on which part of the APC gene is mutated. + GARD + Gardner syndrome
Is Gardner syndrome inherited ?
How is Gardner syndrome inherited? Gardner syndrome 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 Gardner syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child. + GARD + Gardner syndrome
How to diagnose Gardner syndrome ?
Is genetic testing available for Gardner syndrome? Yes, genetic testing is available for APC, the gene known to cause Gardner syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. Because colon screening for those at risk for Gardner syndrome begins as early as age ten years, genetic testing is generally offered to children by this age. 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 Gardner syndrome diagnosed? Gardner syndrome is diagnosed based on the following features: At least 100 colorectal polyps OR fewer than 100 polyps and a family member with Familial Adenomatous Polyposis or Gardner syndrome Osteomas (bony growths) Soft tissue tumors such as epidermoid cysts, fibromas, and desmoid tumors These symptoms are usually identified using a combination of physical examination, colonoscopy, and X-rays of the long bones and/or jaw bone. The presence of other signs and symptoms such as stomach or small intestinal polyps; congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina); and/or associated cancers, supports the diagnosis. A diagnosis of Gardner syndrome can be confirmed by the identification of a disease-causing change (mutation) in the APC gene. + GARD + Gardner syndrome
What are the treatments for Gardner syndrome ?
How might Gardner syndrome be treated? Although there is no cure for Gardner syndrome, treatment and management options are available to reduce the risk of cancer. For example, affected people typically undergo regular screening for the various polyps and tumors associated with Gardner syndrome to permit early diagnosis and treatment. This screening regimen may include: Sigmoidoscopy or colonoscopy every one to two years, beginning at age ten to 12 years. Once polyps are detected, colonoscopy is recommended annually until colectomy (removal of colon). EGD (esophagogastroduodenoscopy) beginning by age 25 and repeated every one to three years. Annual physical examination, including a thorough thyroid evaluation beginning in the late teenage years. Screening for desmoid tumors and hepatoblastoma (a specific type of liver cancer that is diagnosed in young children) may also be recommended in some people. A colectomy is usually recommended when more than 20 or 30 polyps and/or multiple advanced polyps are identified. Sulindac, a nonsteroidal anti-inflammatory drug (NSAIDs), is sometimes prescribed in people with Gardner syndrome who have had a colectomy to treat polyps in the remaining rectum. Treatment for desmoid tumors varies depending on the size and location of the tumor, but may include watchful waiting, surgery, NSAIDS, anti-estrogen medications, chemotherapy and/or radiation therapy. Osteomas (bony growths) may be removed for cosmetic reasons. Treatment of epidermoid cysts in Gardner syndrome is similar to that used for ordinary cysts and involves excision. For more information on the treatment and management of Gardner syndrome, please click here. + GARD + Gardner syndrome
What is (are) Pili annulati ?
Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding. People with pili annulati may describe their hair as "striped" or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage.  Pili annulati can present in infancy, childhood, or later in life. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair. Diagnosis is confirmed by polariscopic and/or electron microscopic examination of affected hairs. The condition runs in an autosomal dominant fashion in some families. Reduced penetrance and variable expression has been described. Sporadic cases have also been reported. + GARD + Pili annulati
What are the symptoms of Pili annulati ?
What are the signs and symptoms of Pili annulati? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili annulati. 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) Fine hair 90% Abnormality of the hair - Autosomal dominant inheritance - 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 + Pili annulati
What is (are) Necrotizing fasciitis ?
Necrotizing fasciitis is a serious infection of the skin, subcutaneous tissue (tissue just beneath the skin) and fascia. The infection can arise suddenly and spread quickly. Necrotizing fasciitis can be caused by several different types of bacteria. Early signs include flu-like symptoms and redness and pain around the infection site. If the infection is not treated promptly, it can lead to multiple organ failure and death. As a result, prompt diagnosis and treatment is essential. Treatment typically includes intravenous antibiotics and surgery to remove infected and dead tissue. + GARD + Necrotizing fasciitis
What are the symptoms of Necrotizing fasciitis ?
What are the signs and symptoms of necrotizing fasciitis? Symptoms often begin within hours of an injury. Intense pain and tenderness over the affected area are often considered the hallmark symptoms of necrotizing fasciitis (NF). The pain is often described as severe and may raise suspicion of a torn muscle. Some early symptoms may be mistaken for the flu and can include fever, sore throat, stomach ache, nausea, diarrhea, chills, and general body aches. The patient may notice redness around the area which spreads quickly; the affected area can eventually become swollen, shiny, discolored, and hot to the touch. In addition, there may be ulcers or blisters. If the infection continues to spread, the patient may experience the following: dehydration, high fever, fast heart rate, and low blood pressure. Pain may actually improve as tissues and the nerves are destroyed. As the infection spreads, vital organs may be affected and the patient may become confused or delirious. If not successfully treated, NF can lead to shock and eventual death. + GARD + Necrotizing fasciitis
What causes Necrotizing fasciitis ?
What causes necrotizing fasciitis? Bacteria that can cause necrotizing fasciitis (NF) include the following: Klebsiella, Clostridium, and Escherichia coli; group A Streptococcus is the most common cause. Anyone can develop NF. Approximately 50% of necrotizing fasciitis cases caused by streptococcal bacteria occur in young and otherwise healthy individuals. Although necrotizing fasciitis most frequently develops after trauma that causes a break in the skin, it can also develop after minor trauma that occurs without a break in the skin. NF can occur as a complication of a surgical procedure; it can also occur at the site of a relatively minor injury such as an insect bite or an injection. In addition, underlying illnesses which weaken the immune system may increase the risk that a person will develop NF. Studies have even suggested a possible relationship between the use of nonsteroidal anti-inflammatory medications (NSAIDs) during varicella infections and the development of necrotizing fasciitis. + GARD + Necrotizing fasciitis
What are the treatments for Necrotizing fasciitis ?
How might necrotizing fasciitis be treated? Accurate and prompt diagnosis, treatment with intravenous (IV) antibiotics, and surgery to remove dead tissue are all important for treating necrotizing fasciitis. Since the blood supply to the infected tissue is impaired, antibiotics cannot penetrate into the infected tissue. As a result, surgery to remove the dead, damaged, or infected tissue is the cornerstone of treatment for necrotizing fasciitis. In addition, early surgical treatment may minimize tissue loss, eliminating the need for amputation of the infected extremity. The choice of antibiotics will likely depend on the particular bacteria involved. Supplemental oxygen, fluids, and medicines may be needed to raise the blood pressure. Hyperbaric oxygen therapy and intravenous immunoglobulin may also be considered, but their use in patients with NF is considered controversial by some. + GARD + Necrotizing fasciitis
What are the symptoms of Anti-plasmin deficiency, congenital ?
What are the signs and symptoms of Anti-plasmin deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Anti-plasmin deficiency, congenital. 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 - Bruising susceptibility - Hemothorax - Joint hemorrhage - Persistent bleeding after trauma - 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 + Anti-plasmin deficiency, congenital
What is (are) Celiac artery compression syndrome ?
Celiac artery compression syndrome is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdominal pain, weight loss, and an abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). The cause is not fully understood; however, it is suspected that there could be a combination of vascular (blood supply) and neurogenic (neurological) components involved. Diagnosis is usually confirmed with imaging such as CT angiography, MRI, ultrasound, and arteriography.Surgery is currently the only treatment option and involves releasing the ligament. + GARD + Celiac artery compression syndrome
What are the symptoms of Celiac artery compression syndrome ?
What are the signs and symptoms of celiac artery compression syndrome?  Classically, individuals with celiac artery compression syndrome present with a triad of abdominal pain after eating, weight loss (usually >20 pounds), and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed).  One review found that abdominal pain is the most common symptom, found to be present in approximately 80% of individuals, while weight loss was found in approximately 48% and abdominal bruit was appreciated in approximately 35%. Other symptoms include: nausea, diarrhea, vomiting, and delayed gastric emptying. + GARD + Celiac artery compression syndrome
What causes Celiac artery compression syndrome ?
What causes celiac artery compression syndrome? The cause of celiac artery syndrome is disputed. While it was initially thought to be caused by a restriction of blood supply secondary to compression of the celiac artery (supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm), other factors have been proposed. It has been suggested that nerve dysfunction might additionally be involved, which could explain some of the associated symptoms such as pain and delayed gastric emptying. + GARD + Celiac artery compression syndrome
How to diagnose Celiac artery compression syndrome ?
How is celiac artery compression syndrome diagnosed? A diagnosis of celiac artery compression syndrome might be suspected in middle aged (40-60) female patients with a triad of symptoms including abdominal pain after eating, weight loss, and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). Abdominal imaging is used to confirm the diagnosis and rule out other similarly presenting disorders. Imaging methodologies might include: CT angiography, MRI, ultrasound, and arteriography. + GARD + Celiac artery compression syndrome
What are the treatments for Celiac artery compression syndrome ?
How might celiac artery compression syndrome be treated? Surgery is currently the only treatment option for celiac artery compression syndrome. Surgery typically involves decompression of the celiac artery by dividing the fibers of the median arcuate ligament and celiac plexus (network of nerves in the abdomen). Surgical decompression might additionally be combined with stent placement, angioplasty, or vascular reconstruction of the celiac artery. + GARD + Celiac artery compression syndrome
What is (are) Mucopolysaccharidosis type IIIB ?
Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIB is caused by alterations (mutations) in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIIB live into their teenage years, and some live longer. + GARD + Mucopolysaccharidosis type IIIB
What are the symptoms of Mucopolysaccharidosis type IIIB ?
What are the signs and symptoms of Mucopolysaccharidosis type IIIB? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIB. 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) Aggressive behavior - Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cardiomegaly - Coarse facial features - Coarse hair - Dense calvaria - Diarrhea - Dysostosis multiplex - Hearing impairment - Heparan sulfate excretion in urine - Hepatomegaly - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Juvenile onset - Ovoid thoracolumbar vertebrae - Progressive neurologic deterioration - Recurrent upper respiratory tract infections - Seizures - Sleep disturbance - Splenomegaly - Synophrys - Thickened ribs - 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 + Mucopolysaccharidosis type IIIB
What are the symptoms of Charcot-Marie-Tooth disease type 2J ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2J? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2J. 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 eye - Abnormality of the respiratory system - Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal muscle weakness - Distal sensory impairment - Dysphagia - Foot dorsiflexor weakness - Hyporeflexia - Peripheral demyelination - Pes cavus - Progressive sensorineural hearing impairment - Sensorineural hearing impairment - Steppage gait - 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 + Charcot-Marie-Tooth disease type 2J
What are the symptoms of Epidermolysis bullosa, lethal acantholytic ?
What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. 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 blistering of the skin 90% Advanced eruption of teeth 90% Alopecia 90% Anonychia 90% Skin ulcer 90% Abnormality of the gastric mucosa 7.5% Hypertrophic cardiomyopathy 7.5% Acantholysis - Autosomal recessive inheritance - Mitten deformity - Natal tooth - Neonatal death - Phimosis - Sandal gap - Skin erosion - Tapered distal phalanges of finger - Widely spaced toes - 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 + Epidermolysis bullosa, lethal acantholytic