fenil210/Med-Lamma huggingface dataset:
What are the treatments for Arginase deficiency ?
How might arginase deficiency be treated? The treatment and management of arginase deficiency is generally focused on lowering arginine levels and preventing hyperammonemia (an accumulation of ammonia in the blood). This may be accomplished through dietary modifications and the use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions. More specifically, people affected by arginase deficiency must restrict dietary protein and arginine. This is often achieved with the use of specialized formulas, which may account for half or more of protein intake. Although people with arginase deficiency are less prone to episodes of severe hyperammonemia than people affected by other urea cycle disorders, special treatment is needed should these episodes occur. During an episode, affected people are generally treated in the hospital and may require dialysis, nitrogen-scavenging medications, intravenous (IV) fluids/feeds and/or other treatments. These treatments are administered with the goal of rapidly reducing blood ammonia levels and preventing neurological damage. GeneReviews offers more specific information on the treatment of arginase deficiency and urea cycle disorders, in general. Please click on the links to access these resources. + GARD + Arginase deficiency
What are the symptoms of His bundle tachycardia ?
What are the signs and symptoms of His bundle tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for His bundle tachycardia. 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) Arrhythmia 90% Hypertrophic cardiomyopathy 50% Neoplasm of the heart 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 + His bundle tachycardia
What are the symptoms of Al Gazali Sabrinathan Nair syndrome ?
What are the signs and symptoms of Al Gazali Sabrinathan Nair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Al Gazali Sabrinathan Nair 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) Cognitive impairment 90% Optic atrophy 90% Recurrent fractures 90% Seizures 90% Wormian bones 90% 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 + Al Gazali Sabrinathan Nair syndrome
What are the symptoms of Schneckenbecken dysplasia ?
What are the signs and symptoms of Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken dysplasia. 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 pelvic girdle bone morphology 90% Abnormality of the fibula 90% Abnormality of the metaphyses 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Short neck 90% Sprengel anomaly 90% Abnormality of the fingernails 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplastic toenails 50% Accelerated skeletal maturation 7.5% Cleft palate 7.5% Tarsal synostosis 7.5% Advanced ossification of carpal bones - Advanced tarsal ossification - Anterior rib cupping - Autosomal recessive inheritance - Brachydactyly syndrome - Disproportionate short-limb short stature - Dumbbell-shaped long bone - Flat acetabular roof - Flat midface - Hypoplastic scapulae - Lateral clavicle hook - Metaphyseal irregularity - Ovoid vertebral bodies - Short 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 + Schneckenbecken dysplasia
What are the symptoms of Acrocephalopolydactylous dysplasia ?
What are the signs and symptoms of Acrocephalopolydactylous dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocephalopolydactylous dysplasia. 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) Omphalocele 30% Pancreatic fibrosis 30% Abnormality of the pinna - Ascites - Autosomal recessive inheritance - Craniosynostosis - Cystic renal dysplasia - Enlarged kidneys - Epicanthus - Extrapulmonary sequestrum - Hepatic fibrosis - Hepatomegaly - Hypertelorism - Hypoplasia of the small intestine - Hypoplastic colon - Low-set ears - Micromelia - Oxycephaly - Phenotypic variability - Polysplenia - Postaxial hand polydactyly - Pulmonary hypoplasia - Short neck - Short nose - Upslanted palpebral fissure - 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 + Acrocephalopolydactylous dysplasia
What is (are) Hydrops fetalis ?
Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cell destruction, which leads to several problems, including total body swelling. Severe swelling can interfere with how the body organs work. Nonimmune hydrops fetalis occurs when a disease or medical condition disrupts the body's ability to manage fluid. There are three main causes for this type: heart or lung problems, severe anemia (thalassemia), and genetic defects, including Turner syndrome. The exact cause depends on which form a baby has. + GARD + Hydrops fetalis
What are the symptoms of Hydrops fetalis ?
What are the signs and symptoms of Hydrops fetalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops fetalis. 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% Anemia 90% Congestive heart failure 90% Hydrops fetalis 90% Pallor 90% Hepatomegaly 50% Hydrocephalus 50% Oligohydramnios 50% Polyhydramnios 50% Splenomegaly 50% Toxemia of pregnancy 50% Abnormality of the pericardium 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 + Hydrops fetalis
What is (are) Cushing disease ?
Cushing disease is a condition caused by elevated levels of a hormone called cortisol. It is part of a group of diseases known as Cushings syndrome. The signs and symptoms include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones that are prone to fracture (osteoporosis), mood disorders and memory problems. Patients also have an increased risk of infections, high blood pressure and diabetes. Women may have irregular menses and a lot of hair in the body (hirsutism). Cushing disease occurs when a benign pituitary tumor (adenoma) or pituitary hyperplasia causes the adrenal glands to produce large amounts of cortisol. The genetic cause of Cushing disease is often unknown but some cases are caused by somatic mutations in genes involved in hormonal activity. Most cases occur sporadically in people with no family history of the condition. Rarely, Cushing disease can be inherited, either as an isolated condition or as part of a genetic syndrome (such as multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenoma). Treatment generally involves surgery to remove the tumor and medications to decrease cortisol levels. + GARD + Cushing disease
What are the symptoms of Cushing disease ?
What are the signs and symptoms of Cushing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing 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) Abnormality of adipose tissue 90% Hypercortisolism 90% Neoplasm of the endocrine system 90% Round face 90% Thin skin 90% Truncal obesity 90% Acne 50% Bruising susceptibility 50% Decreased fertility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Hypokalemia 50% Nephrolithiasis 50% Recurrent fractures 50% Reduced bone mineral density 50% Abdominal pain 7.5% Abnormality of the gastric mucosa 7.5% Aseptic necrosis 7.5% Cataract 7.5% Generalized hyperpigmentation 7.5% Hypertrophic cardiomyopathy 7.5% Migraine 7.5% Myopathy 7.5% Paronychia 7.5% Reduced consciousness/confusion 7.5% Secondary amenorrhea 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Abdominal obesity - Abnormal fear/anxiety-related behavior - Alkalosis - Biconcave vertebral bodies - Edema - Facial erythema - Glucose intolerance - Hirsutism - Increased circulating ACTH level - Kyphosis - Mood changes - Oligomenorrhea - Osteoporosis - Pituitary adenoma - Poor wound healing - Psychotic mentation - Purpura - Skeletal muscle atrophy - Striae distensae - Vertebral compression fractures - 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 + Cushing disease
What are the symptoms of Jensen syndrome ?
What are the signs and symptoms of Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen 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) Blindness - Cerebral calcification - Dementia - Generalized amyotrophy - Infantile sensorineural hearing impairment - Optic atrophy - X-linked 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 + Jensen syndrome
What are the symptoms of Nestor-guillermo progeria syndrome ?
What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria 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 the forearm - Abnormality of the ribs - Atherosclerosis - Autosomal recessive inheritance - Convex nasal ridge - Delayed closure of the anterior fontanelle - Dental crowding - Failure to thrive - Flexion contracture - Hypoplasia of midface - Joint stiffness - Lipoatrophy - Malar flattening - Osteolytic defects of the distal phalanges of the hand - Osteoporosis - Progressive clavicular acroosteolysis - Proptosis - Pulmonary hypertension - Scoliosis - Short stature - Sinus tachycardia - Sparse eyebrow - Sparse eyelashes - Spotty hyperpigmentation - Wide cranial sutures - 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 + Nestor-guillermo progeria syndrome
What is (are) Familial Mediterranean fever ?
Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis),  lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Between attacks, people often do not have any symptoms. Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis). FMF is usually inherited in an autosomal recessive fashion and is caused by mutations in the MEFV gene. Treatment for FMF often involves use of a medication called colchicine. + GARD + Familial Mediterranean fever
Is Familial Mediterranean fever inherited ?
How is familial Mediterranean fever (FMF) inherited? FMF is almost always 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 in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. As many as 1 in 5 people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and Turkish heritage are carriers for FMF.  In rare cases, this condition appears to be 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 FMF inherited in an autosomal dominant manner has a 50% chance with each pregnancy of passing along the altered gene to his or her child. In some cases, FMF may appear to be autosomal dominant when it is actually autosomal recessive. This phenomenon is called pseudodominance. This may happen in families if one parent is an unaffected, unknown carrier (with 1 mutation) and the other parent is affected (with 2 mutations). It may appear that an affected child inherited FMF from only the affected parent, when in fact he/she inherited one mutation from each parent. + GARD + Familial Mediterranean fever
How to diagnose Familial Mediterranean fever ?
How is familial Mediterranean fever (FMF) diagnosed? In making a diagnosis of FMF, doctors take all of these factors into account: Whether the person has the clinical symptoms common for the disease and whether the symptoms are recurrent. How he or she responds to colchicine treatment. Usually a positive family history in people of Middle Eastern ancestry. The results of genetic testing. Also helpful in establishing a correct diagnosis of FMF is the person's ancestry. Testing for the following can also be helpful: Elevated white blood cell count, which is an indication of an immune response. Elevated erythrocyte sedimentation rate (ESR), which is an indication of an inflammatory response. Elevated plasma fibrinogen, which helps stop bleeding. An elevated amount would indicate that something might be wrong with this mechanism. Elevated serum haptoglobin, which would indicate that red blood cells are being destroyed, a common occurrence in rheumatic diseases, such as FMF. Elevated C-reactive protein, which is a special type of protein, produced by the liver, that is only present during episodes of acute inflammation. Elevated albumin in the urine, which is demonstrated by urinalysis. The presence of the protein albumin in the urine can be a symptom of kidney disease, along with microscopic hematuria (very small - microscopic - amounts of blood or blood cells in the urine), during attacks. Is genetic testing for familial Mediterranean fever (FMF) available? Yes. The Genetic Testing Registry (GTR) provides information about the genetic testing for this condition. We strongly recommend that you work with a genetics professional if you wish to pursue genetic testing. + GARD + Familial Mediterranean fever
What are the treatments for Familial Mediterranean fever ?
How might familial Mediterranean fever (FMF) be treated? Currently, there is no known cure for FMF. Physicians can only treat the symptoms of the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Many people require colchicine for life. This therapy has been successful in preventing attacks of fever in 75 percent of those who take the drug regularly. Over 90 percent of people with FMF demonstrate a marked improvement. Even if colchicine does not prevent the fever attacks, it does prevent the amyloidosis. However, compliance in taking colchicine every day is very important. If a person stops taking the drug, an attack can occur within a few days. Complications of colchicine use can also occur and include muscle weakness (myopathy) and a toxic epidermal necrolysis-like reaction. Since the gene that causes FMF codes for the protein pyrin, researchers hope that by studying how this protein works they will ultimately develop improved treatments for FMF, and possibly for other conditions involving excess inflammation. + GARD + Familial Mediterranean fever