Druvith/transformed_medDataset huggingface dataset:
What is (are) Carnitine-acylcarnitine translocase deficiency ? 
 Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children.
What are the symptoms of Carnitine-acylcarnitine translocase deficiency ? 
 What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in unconsciousness and seizures. Other signs that are often present include excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart abnormalities (cardiomyopathy), and muscle weakness. This disorder can cause sudden infant death. Children with the mild type of carnitine-acylcarnitine translocase deficiency usually start having symptoms before age three. They are at risk to have episodes of metabolic crisis, but usually do not have heart problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine-acylcarnitine translocase deficiency. 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) Atrioventricular block - Autosomal recessive inheritance - Bradycardia - Cardiomyopathy - Cardiorespiratory arrest - Coma - Dicarboxylic aciduria - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Hepatomegaly - Hyperammonemia - Hypoglycemia - Hypotension - Irritability - Lethargy - Muscle weakness - Muscular hypotonia - Rhabdomyolysis - Seizures - Ventricular extrasystoles - Ventricular hypertrophy - Ventricular tachycardia - 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 causes Carnitine-acylcarnitine translocase deficiency ? 
 What causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called "carnitine-acylcarnitine translocase" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. It also helps to break down fat already stored in the body. Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat for energy when we don't eat for a stretch of time - like when we miss a meal or when we sleep. When the CAT normal enzyme is missing or not working well, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood.
Is Carnitine-acylcarnitine translocase deficiency inherited ? 
 How is carnitine-acylcarnitine inherited? Carnitine-acylcarnitine translocase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
How to diagnose Carnitine-acylcarnitine translocase deficiency ? 
 Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficiency. In some affected children, both gene changes can be found. However, in other children, neither or only one of the two gene changes can be found, even though we know they are present. DNA testing is not necessary to diagnose carnitine-acylcarnitine translocase deficiency, however, it can be helpful for carrier testing or prenatal diagnosis.
What are the treatments for Carnitine-acylcarnitine translocase deficiency ? 
 How might carnitine-acylcarnitine translocase deficiency be treated? Although there is no standard treatment plan for carnitine-acylcarnitine translocase deficiency, there are treatments that have been found to be helpful in the management of this condition. Certain treatments may be helpful for some children but not others. When necessary, treatment are usually needed throughout life. Children with carnitine-acylcarnitine translocase deficiency should be followed by a metabolic doctor  and a dietician in addition to their primary doctor. Aggressive treatment of hypoglycemia, hyperammonemia and prevention of lipolysis (the breakdown of fat stored in fat cells) in the newborn may be lifesaving. Infants and young children with carnitine-acylcarnitine translocase deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours, although some babies need to eat even more frequently than this. It is important that infants be fed during the night. They may need to be woken up to eat if they do not wake up on their own. Sometimes a low-fat, high carbohydrate diet is advised. Carbohydrates give the body many types of sugar that can be used as energy. In fact, for children needing this treatment, most food in the diet should be carbohydrates (bread, pasta, fruit, vegetables, etc.) and protein (lean meat and low-fat dairy food). Some children may be helped by taking L-carnitine. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. However, supplementation with carnitine remains controversial, as its efficacy remains unknown. Medium Chain Triglyceride oil (MCT oil) is sometimes used as part of the food plan for people with carnitine-acylcarnitine translocase deficiency. This special oil has medium chain fatty acids that people with carnitine-acylcarnitine translocase deficiency can use in small amounts for energy. You may be instructed to call your child's doctor at the start of any illness. Children with carnitine-acylcarnitine translocase deficiency need to eat extra starchy food and drink more fluids during any illness (even if they may not feel hungry) or they could develop a metabolic crisis.
What is (are) Limb-girdle muscular dystrophy type 2I ? 
 Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. LGMD2I is caused by changes (mutations) in the FKRP gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person.
What are the symptoms of Limb-girdle muscular dystrophy type 2I ? 
 What are the signs and symptoms of Limb-girdle muscular dystrophy type 2I? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2I. 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) Exercise-induced myoglobinuria 25% Achilles tendon contracture - Autosomal recessive inheritance - Calf muscle hypertrophy - Congenital muscular dystrophy - Difficulty climbing stairs - Difficulty walking - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - Frequent falls - Hyperlordosis - Impaired left ventricular function - Kyphosis - Macroglossia - Muscle cramps - Myalgia - Nocturnal hypoventilation - Pelvic girdle muscle weakness - Proximal muscle weakness - Restrictive respiratory insufficiency - Scoliosis - Shoulder girdle muscle weakness - Thigh hypertrophy - Toe walking - Variable expressivity - Vertebral fusion - Waddling 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.
What are the symptoms of Spondylometaphyseal dysplasia type A4 ? 
 What are the signs and symptoms of Spondylometaphyseal dysplasia type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia type A4. 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 hip bone 90% Micromelia 90% Platyspondyly 90% Short stature 90% Brachydactyly syndrome 50% Enlarged thorax 7.5% Limitation of joint mobility 7.5% Autosomal recessive inheritance - Broad ischia - Costochondral joint sclerosis - Coxa valga - Disproportionate short-limb short stature - Dolichocephaly - Enlargement of the costochondral junction - Flat acetabular roof - Hypoplasia of the capital femoral epiphysis - Irregular capital femoral epiphysis - Irregular patellae - Metaphyseal irregularity - Metaphyseal sclerosis - Metaphyseal widening - Narrow greater sacrosciatic notches - Osteoporotic metatarsal - Osteoporotic tarsals - Ovoid vertebral bodies - Pectus carinatum - Sclerotic humeral metaphysis - Severe short stature - Spondylometaphyseal dysplasia - 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 symptoms of Hypertelorism and tetralogy of Fallot ? 
 What are the signs and symptoms of Hypertelorism and tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertelorism and tetralogy of Fallot. 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 - Blepharophimosis - Depressed nasal bridge - Epicanthus - Hypertelorism - Hypospadias - Intellectual disability, mild - Long philtrum - Low-set ears - Patent ductus arteriosus - Patent foramen ovale - Posteriorly rotated ears - Spina bifida occulta - Talipes equinovarus - Tetralogy of Fallot - Tetralogy of Fallot with absent pulmonary valve - 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 symptoms of Spondylometaphyseal dysplasia X-linked ? 
 What are the signs and symptoms of Spondylometaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia X-linked. 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 nail - Anteverted nares - Coarse facial features - Depressed nasal bridge - Enlarged joints - Hip contracture - Hyperextensibility of the finger joints - Hypertelorism - Intellectual disability, mild - Knee flexion contracture - Kyphosis - Neurological speech impairment - Nystagmus - Pectus carinatum - Platyspondyly - Respiratory failure - Sclerosis of skull base - Severe short stature - Spondylometaphyseal dysplasia - Strabismus - Tapered finger - Thoracolumbar scoliosis - Wide nasal bridge - 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.
What are the symptoms of Glomerulopathy with fibronectin deposits 2 ? 
 What are the signs and symptoms of Glomerulopathy with fibronectin deposits 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 2. 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) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Generalized distal tubular acidosis - Microscopic hematuria - Renal cell carcinoma - Slow progression - Stage 5 chronic kidney disease - 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 is (are) CREST syndrome ? 
 CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease.     (C) - Calcinosis (KAL-sin-OH-sis): the formation of calcium deposits in the connective tissues, which can be detected by X ray. They are typically found on the fingers, hands, face, trunk, and on the skin above the elbows and knees. When the deposits break through the skin, painful ulcers can result.   (R) - Raynaud's (ray-NOHZ) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. As the vessels contract, the hands or feet turn white and cold, then blue. As blood flow returns, they become red. Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene.   (E) - Esophageal (eh-SOFF-uh-GEE-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. In the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation.   (S) - Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. The condition makes it harder to bend or straighten the fingers. The skin may also appear shiny and darkened, with hair loss.   (T) - Telangiectasia (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. While not painful, these red spots can create cosmetic problems.   It is not necessary to have all five symptoms of CREST syndrome to be diagnosed with the disease. Some doctors believe only two of the five are necessary for a diagnosis.
What are the symptoms of CREST syndrome ? 
 What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST 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 gastric mucosa 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Chondrocalcinosis 90% Edema 90% Hyperkeratosis 90% Lack of skin elasticity 90% Myalgia 90% Nausea and vomiting 90% Skeletal muscle atrophy 90% Weight loss 90% Abnormality of the myocardium 50% Abnormality of the pericardium 50% Carious teeth 50% Feeding difficulties in infancy 50% Gangrene 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Respiratory insufficiency 50% Skin ulcer 50% Telangiectasia of the skin 50% Trismus 50% Xerostomia 50% Abnormal renal physiology 7.5% Abnormal tendon morphology 7.5% Arrhythmia 7.5% Bowel incontinence 7.5% Coronary artery disease 7.5% Erectile abnormalities 7.5% Hypertensive crisis 7.5% Irregular hyperpigmentation 7.5% Migraine 7.5% Narrow mouth 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Abnormality of chromosome stability - Abnormality of the abdomen - Autosomal dominant inheritance - Calcinosis - Sclerodactyly - Scleroderma - Telangiectasia - 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 causes CREST syndrome ? 
 What causes CREST syndrome? In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of connective tissue around the cells of the skin, blood vessels and in some cases, the internal organs. Although an abnormal immune system response and the resulting production of excess collagen appears to be the main cause of limited scleroderma, researchers suspect that other factors may play a role, including: genetic factors, pregnancy, hormones, and environmental factors.