fenil210/Med-Lamma huggingface dataset:
How to diagnose Oculopharyngeal muscular dystrophy ?
Is genetic testing available for oculopharyngeal muscular dystrophy? Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To view the contact information for the clinical laboratories conducting testing click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals that are interested in learning more will need to work with a health care provider or a genetics professional. + GARD + Oculopharyngeal muscular dystrophy
What are the treatments for Oculopharyngeal muscular dystrophy ?
How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surgery is to raise the eyelid so that the affected individual can see. Individuals with severe difficulty swallowing (dysphagia) may have a surgical procedure known as cricopharyngeal myotomy. In this procedure, the cricopharyngeal muscle of the throat is cut so that when swallowing occurs, the muscle remains relaxed allowing the passage of food or liquid. Orthopedic devices such as canes, leg braces, or walkers can assist individuals who have difficulty walking. Other treatment is symptomatic and supportive. + GARD + Oculopharyngeal muscular dystrophy
What is (are) Alpha-thalassemia ?
Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. The inheritance is complex, and can be read about here. No treatment is effective for Hb Bart syndrome. For HbH disease, occasional red blood cell transfusions may be needed. + GARD + Alpha-thalassemia
What are the symptoms of Alpha-thalassemia ?
What are the signs and symptoms of Alpha-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia. 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 heme biosynthetic pathway 90% Abnormality of immune system physiology 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Hemolytic anemia 7.5% Hydrops fetalis 7.5% Hypersplenism 7.5% Myelodysplasia 7.5% Splenomegaly 7.5% Hypochromic microcytic anemia - Reduced alpha/beta synthesis ratio - 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 + Alpha-thalassemia
Is Alpha-thalassemia inherited ?
How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. Therefore, there are 4 alleles that produce alpha-globin, the protein that results from these genes. For each of the 2 genes, one allele is inherited from a person's father, and the other is inherited from a person's mother - so each person inherits 2 alleles from each parent. The different types of alpha-thalassemia result from the loss of some or all of these alleles. If both parents are missing at least one alpha-globin allele, each of their children are at risk of having Hb Bart syndrome or hydrops fetalis, hemoglobin H (HbH) disease, or alpha-thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected. In most cases: a person with 1 mutated allele is a carrier and has no signs or symptoms a person with 2 mutated alleles may have mild signs or symptoms of alpha-thalassemia (called alpha-thalassemia minor, or alpha-thalassemia trait) a person with 3 mutated alleles has moderate to severe symptoms (called HbH disease) When there are 4 mutated alleles, the condition is called alpha-thalassemia major or hydrops fetalis. In these cases, an affected fetus usually does not survive to birth, or an affected newborn does not survive long after birth. + GARD + Alpha-thalassemia
What are the treatments for Alpha-thalassemia ?
How might alpha-thalassemia be treated? Treatment of alpha-thalassemia often includes blood transfusions to provide healthy blood cells that have normal hemoglobin.  Bone marrow transplant has helped to cure a small number of individuals with severe alpha-thalassemia. + GARD + Alpha-thalassemia
What is (are) Pediatric Crohn's disease ?
Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn's disease may include intestinal blockage, fistulas, anal fissures, ulcers, malnutrition, and inflammation in other areas of the body. Crohn's disease can occur in people of all age groups but is most often diagnosed in young adults. The exact cause is unknown, but is thought to involve both genetic and environmental factors. It appears to run in some families. Treatment is aimed at relieving symptoms and reducing inflammation, but some people require surgery. + GARD + Pediatric Crohn's disease
What are the symptoms of Meleda disease ?
What are the signs and symptoms of Meleda disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Meleda disease. 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) Lichenification 90% Palmoplantar keratoderma 90% Abnormality of the palate 50% Finger syndactyly 50% Hyperhidrosis 50% Hypertrichosis 50% Ichthyosis 50% Skin ulcer 50% Osteolysis 7.5% Abnormality of the mouth - Autosomal recessive inheritance - Brachydactyly syndrome - Congenital symmetrical palmoplantar keratosis - Erythema - Fragile nails - Infantile onset - 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 + Meleda disease
What are the symptoms of Juvenile idiopathic arthritis ?
What are the signs and symptoms of Juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile idiopathic arthritis. 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 temperature regulation 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Joint swelling 90% Skin rash 90% Mediastinal lymphadenopathy 50% Abdominal pain 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Hepatomegaly 7.5% Splenomegaly 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 + Juvenile idiopathic arthritis
What are the symptoms of Amish infantile epilepsy syndrome ?
What are the signs and symptoms of Amish infantile epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish infantile epilepsy 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) Hearing impairment 5% Microcephaly 5% Absent speech - Autosomal recessive inheritance - Choreoathetosis - Cortical visual impairment - Developmental regression - Developmental stagnation at onset of seizures - Failure to thrive - Feeding difficulties in infancy - Generalized tonic-clonic seizures - Global brain atrophy - Hyporeflexia of upper limbs - Irritability - Lower limb hyperreflexia - Muscular hypotonia - Myoclonus - Optic atrophy - Status epilepticus - Visual loss - Vomiting - 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 + Amish infantile epilepsy syndrome
What is (are) Anaplastic astrocytoma ?
Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary depending on the location and size of the tumor and may include headaches, drowsiness, vomiting, and changes in personality or mental status. Some affected people have seizures, vision problems, weakness of the limbs, and/or coordination problems. Anaplastic astroctyomas usually occur sporadically but can be associated with a few rare, genetic disorders. Treatment may include surgery, radiation, and/or chemotherapy. + GARD + Anaplastic astrocytoma
Is Anaplastic astrocytoma inherited ?
Are anaplastic astrocytomas inherited? Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown. Familial cases of isolated astrocytomas have been reported but are very rare. Astrocytomas can have a genetic link when they are associated with a few rare, inherited disorders. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis. Astrosytomas occur more frequently in people with one of these disorders. Like many other cancers, it is believed that isolated astrocytomas may occur due to a combination of genetic and environmental factors. This means that a person may carry a gene (or a combination of genes) that predisposes them to developing an astrocytoma, but it may not develop unless it is "triggered" by an environmental factor. + GARD + Anaplastic astrocytoma
How to diagnose Anaplastic astrocytoma ?
Is genetic testing available for anaplastic astrocytomas? When anaplastic astrocytomas are not associated with an inherited condition, the cause typically remains unknown. In these cases, genetic testing is not available. However, genetic testing is available for the few genetic disorders that are associated with an increased risk for developing an astrocytoma. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for these conditions. On the GTR Web site, search for a disorder to find out about the genetic tests that are available. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. + GARD + Anaplastic astrocytoma
What are the symptoms of Ehlers-Danlos syndrome, periodontitis type ?
What are the signs and symptoms of Ehlers-Danlos syndrome, periodontitis type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, periodontitis type . 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 skin pigmentation 90% Atypical scarring of skin 90% Gingival overgrowth 90% Short stature 90% Hyperextensible skin 50% Hyperkeratosis 50% Joint hypermobility 50% Periodontitis 50% Premature loss of primary teeth 7.5% Autosomal dominant inheritance - Blue sclerae - Bruising susceptibility - Joint laxity - Palmoplantar cutis laxa - Poor wound healing - Premature loss of teeth - Thin skin - 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 + Ehlers-Danlos syndrome, periodontitis type
What are the symptoms of Popliteal pterygium syndrome lethal type ?
What are the signs and symptoms of Popliteal pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome lethal type. 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 hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Abnormality of the palpebral fissures 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the eyebrow 90% Finger syndactyly 90% Hypoplastic toenails 90% Median cleft lip 90% Microcephaly 90% Popliteal pterygium 90% Synostosis of joints 90% Talipes 90% Toe syndactyly 90% Trismus 90% Aplasia/Hypoplasia of the thumb 50% Cleft eyelid 50% Cognitive impairment 50% Narrow mouth 50% Opacification of the corneal stroma 50% Short nose 50% Underdeveloped nasal alae 50% Renal hypoplasia/aplasia 7.5% Alopecia totalis 5% Bilateral cryptorchidism 5% Cupped ear 5% Hypertelorism 5% Hypoplasia of the maxilla 5% Hypoplastic male external genitalia 5% Hypoplastic scapulae 5% Microphthalmia 5% Wide intermamillary distance 5% Absent eyebrow - Absent eyelashes - Absent thumb - Anal stenosis - Ankyloblepharon - Anonychia - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Facial cleft - Hypoplastic labia majora - Intrauterine growth retardation - Low-set ears - Short phalanx of finger - Small nail - Syndactyly - 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 + Popliteal pterygium syndrome lethal type
What is (are) Diabetic mastopathy ?
Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). + GARD + Diabetic mastopathy
What are the symptoms of Diabetic mastopathy ?
What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabetic mastopathy who have had insulin-requiring diabetes for a long time (>15 years) commonly have other diabetes complications as well (e.g., thyroid, eye, and joint involvement). + GARD + Diabetic mastopathy
What causes Diabetic mastopathy ?
What causes diabetic mastopathy? The cause of diabetic mastopathy is unknown. Theories include an autoimmune reaction, genetic factors such as human leukocyte antigen (HLA) type, association with insulin therapy, and association with hyperglycemia. + GARD + Diabetic mastopathy
How to diagnose Diabetic mastopathy ?
How is diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot provide a specific diagnosis of diabetic mastopathy with confident exclusion of malignancy. Magnetic resonance imaging (MRI) is unlikely to add additional information. Current practice dictates that a core biopsy (utilizing a needle to remove a small cylinder of tissue) be performed for a definitive diagnosis.  Biopsy results demonstrate lymphocytic lobulitis and ductitis, glandular atrophy (wasting), perivascular inflammation (vasculitis), dense keloid fibrosis (scarring), and epithelioid fibroblasts. + GARD + Diabetic mastopathy
What are the treatments for Diabetic mastopathy ?
How is diabetic mastopathy treated? Diabetic mastopathy is a benign condition and should be managed as such. Patients should be advised about the condition and how to self examine the breasts. They should be advised that iif there are any changes in size and number of breast lumps that they should consult their breast team or general practitioner. Patients should be routinely followed up with MRI or ultrasound and core biopsy if the lesions become clinically or radiologically suspicious. Lesions can be excised for cosmetic reasons or if malignancy cannot be excluded. No followup is recommended when malignancy has been ruled out. + GARD + Diabetic mastopathy
What is (are) Stiff person syndrome ?
Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG). + GARD + Stiff person syndrome