fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ?
What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase 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) Nonspherocytic hemolytic anemia 5% 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 + Anemia due to Adenosine triphosphatase deficiency
What are the symptoms of GTP cyclohydrolase I deficiency ?
What are the signs and symptoms of GTP cyclohydrolase I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for GTP cyclohydrolase I 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) Abnormality of eye movement - Autosomal recessive inheritance - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperkinesis - Hyperphenylalaninemia - Infantile onset - Intellectual disability, progressive - Irritability - Lethargy - Limb hypertonia - Progressive neurologic deterioration - Rigidity - Seizures - Severe muscular hypotonia - Tremor - Variable expressivity - 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 + GTP cyclohydrolase I deficiency
What is (are) Bartter syndrome ?
Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body. + GARD + Bartter syndrome
What causes Bartter syndrome ?
What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified. All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome. + GARD + Bartter syndrome
Is Bartter syndrome inherited ?
How is Bartter syndrome inherited? Bartter syndrome is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene (one inherited from each parent) have a mutation in an affected individual. Parents who each carry one mutated copy of the gene are referred to as carriers and typically do not have signs or symptoms of the condition. When two carriers for 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. Click here to visit the Genetic Home Reference Web site and view an illustration that demonstrates autosomal recessive inheritance. + GARD + Bartter syndrome
How to diagnose Bartter syndrome ?
How is Bartter syndrome diagnosed? Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride levels; and an acid/base balance that is skewed towards the base (i.e. the blood is more alkaline than usual). High levels of the hormones renin and aldosterone in the blood would also support the diagnosis. Urine test results that would support the diagnosis include high levels of potassium and chloride, suggesting that the kidneys have impaired ability to control the concentrations of these electrolytes. A positive genetic test result would confirm the diagnosis. Is genetic testing available for Bartter syndrome? Yes, genetic testing for Bartter syndrome is available. GeneTests lists the names of laboratories that are performing clinical genetic testing for Bartter syndrome. To view a list of the clinical laboratories performing testing for each type of Bartter syndrome, click on the appropriate link below: Antenatal Bartter syndrome type I Antenatal Bartter syndrome type II Bartter syndrome type III (Classical Bartter syndrome) Bartter syndrome type IVA (Infantile Bartter Syndrome with Sensorineural Deafness) Bartter syndrome type IVB Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals interested in learning more will need to work with a health care provider or a genetics professional. + GARD + Bartter syndrome
What are the treatments for Bartter syndrome ?
How might Bartter syndrome be treated? Treatment of Bartter syndrome depends on the type of the syndrome that the affected individual has, but it primarily focuses on preventing the loss of too much of potassium from the body. This may include oral potassium (K) supplements, medication such as indomethacin, and potassium-sparing diuretics. In high-stress situations such as illness or trauma, blood electrolyte levels can change rapidly, which may require immediate intravenous treatment. Genetic counseling may benefit affected individuals and their families. eMedicine has an article containing additional, thorough information about the management and treatment of Bartter syndrome. Click here to view this information. + GARD + Bartter syndrome
What are the symptoms of FG syndrome 4 ?
What are the signs and symptoms of FG syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome 4. 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) Neonatal hypotonia 6/8 Sensorineural hearing impairment 4/6 Feeding difficulties in infancy 5/8 Seizures 5/8 Prominent forehead 3/8 Scoliosis 2/8 Hypertelorism - Intellectual disability - 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. + GARD + FG syndrome 4
What is (are) Zika virus infection ?
Zika virus infection is spread to people primarily through the bite of an infected mosquito. Zika virus can also be spread from a pregnant mother to her child and through sexual contact with an affected male partner. Cases of Zika virus transmission via blood transfusions have also been reported. Zika virus outbreaks are currently occurring in many countries. Within the continental United States, Zika virus infections have mostly been in returning travelers. The illness associated with Zika virus infection is usually mild, with symptoms lasting for several days to a week. The most common symptoms of Zika are fever, rash, joint pain, and conjunctivitis (red eyes). However, recent research has suggested a link between Zika virus infection and Guillain-Barre syndrome (GBS). In addition, prenatal Zika virus infection has been shown to cause adverse pregnancy outcomes, including microcephaly and other serious brain anomalies. The precise risk of an adverse pregnancy outcome for a woman infected with Zika virus during pregnancy and the full spectrum of associated birth defects has not yet been determined. No vaccine currently exists to prevent Zika virus infection, but there are still ways to protect oneself. The CDC recommends that pregnant women consider postponing travel to Zika-affected areas. People living in or traveling to areas where Zika virus is found should take steps to prevent mosquito bites. Men who live in or who have traveled to Zika-affected areas can also take steps to prevent sexual transmission of the Zika virus. + GARD + Zika virus infection
What are the treatments for Zika virus infection ?
How might a Zika virus infection be treated? There is no vaccine to prevent Zika virus infections, nor is there a specific medicine to treat Zika. Individuals infected with the Zika virus should get plenty of rest, drink fluids, and take medications such as acetaminophen for pain. Aspirin and other nonsteroidal anti-inflammatory medications (NSAIDS) should be avoided until dengue has been ruled out. In pregnant women with evidence of Zika virus in the blood or amniotic fluid, serial ultrasounds should be considered to monitor fetal anatomy and growth every 3-4 weeks. Referral to a maternal-fetal medicine specialist or infectious disease specialist with expertise in pregnancy management is recommended. + GARD + Zika virus infection
What is (are) Urachal cyst ?
Urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older children and adults. Urachal cysts are often not associated with any signs or symptoms unless there are complications such as infection. In these cases, symptoms may include abdominal pain, fever, pain with urination and/or hematuria. Treatment typically includes surgery to drain the cyst and/or remove the urachus. + GARD + Urachal cyst
What are the symptoms of Urachal cyst ?
What are the signs and symptoms of a urachal cyst? In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include: Lower abdominal pain Fever Abdominal lump or mass Pain with urination Urinary tract infection Hematuria + GARD + Urachal cyst
What causes Urachal cyst ?
What causes a urachal cyst? A urachal cyst occurs when a pocket of air or fluid develops in the urachus. Before birth, the urachus is a primitive structure that connects the umbilical cord to the bladder in the developing baby. The urachus normally disappears before birth, but part of the urachus may remain in some people after they are born. This can lead to urachal abnormalities such as urachal cysts. + GARD + Urachal cyst
How to diagnose Urachal cyst ?
How is a urachal cyst diagnosed? The diagnosis of a urachal cyst may be suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis: Ultrasound Magnetic Resonance Imaging (MRI scan) Computed Tomography (CT scan) + GARD + Urachal cyst
What are the treatments for Urachal cyst ?
How might a urachal cyst be treated? In many cases, the diagnosis of a urachal cyst is only made when there are complications such as infection. Although some cases of infected urachal cysts have reportedly resolved without any intervention, surgical treatment is generally recommended which involves draining the cyst. Because there is a small risk that a urachal cyst may become malignant (cancerous), additional surgery is often performed to completely remove the urachus. + GARD + Urachal cyst
What are the symptoms of Lethal congenital contracture syndrome 1 ?
What are the signs and symptoms of Lethal congenital contracture syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal congenital contracture syndrome 1. 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% Aplasia/Hypoplasia of the lungs 90% Hypertelorism 90% Short stature 90% Skeletal muscle atrophy 90% Abnormal cortical bone morphology 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Amniotic constriction ring 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Recurrent fractures 50% Short neck 50% Slender long bone 50% Webbed neck 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the amniotic fluid - Abnormality of the thorax - Autosomal recessive inheritance - Edema - Hypoplasia of the musculature - Neonatal death - Paucity of anterior horn motor neurons - Pulmonary hypoplasia - Widening of cervical spinal canal - 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 + Lethal congenital contracture syndrome 1
What are the symptoms of Neuropathy, congenital, with arthrogryposis multiplex ?
What are the signs and symptoms of Neuropathy, congenital, with arthrogryposis multiplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, congenital, with arthrogryposis multiplex. 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) Areflexia of lower limbs - Autosomal dominant inheritance - Babinski sign - Broad-based gait - Calcaneovalgus deformity - Congenital onset - Congenital peripheral neuropathy - Distal amyotrophy - Distal muscle weakness - Hyperlordosis - Hyporeflexia of lower limbs - Nonprogressive - 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 + Neuropathy, congenital, with arthrogryposis multiplex
What is (are) Lambert Eaton myasthenic syndrome ?
Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases, or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer. Symptoms may include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. Treatment of a underlying disorder or cancer is the first priority of treatment. + GARD + Lambert Eaton myasthenic syndrome
What are the symptoms of Lambert Eaton myasthenic syndrome ?
What are the symptoms of Lambert-Eaton myasthenic syndrome? Signs and symptoms of Lambert-Eaton myasthenic syndrome may include: Weakness or loss of movement that varies in severity: Difficulty climbing stairs Difficulty lifting objects Need to use hands to arise from sitting or lying positions Difficulty talking Difficulty chewing Drooping head Swallowing difficulty, gagging, or choking Vision changes: Blurry vision Double vision Difficulty maintaining a steady gaze Other symptoms may include blood pressure changes, dizziness upon rising, and dry mouth + GARD + Lambert Eaton myasthenic syndrome
What causes Lambert Eaton myasthenic syndrome ?
What causes Lambert Eaton myasthenic syndrome? Lambert Eaton myasthenic syndrome is the result of an autoimmune process which causes a disruption of electrical impulses between nerve cells and muscle fibers. In cases where Lambert Eaton myasthenic syndrome appears in association with cancer, the cause may be that the bodys attempt to fight the cancer inadvertently causes it to attack nerve fiber endings, especially the voltage-gated calcium channels found there. The trigger for the cases not associated with cancer is unknown. + GARD + Lambert Eaton myasthenic syndrome
What are the treatments for Lambert Eaton myasthenic syndrome ?
How might Lambert-Eaton myasthenic syndrome be treated? Medications and therapies used to treat Lambert-Eaton myasthenic syndrome may include anticholinesterase agents (e.g., Pyridostigmine), guanidine hydrochloride, plasmapheresis (where blood plasma is removed and replaced with fluid, protein, or donated plasma) or IV immunoglobulins, steroids (e.g., prednisone), azathioprine or cyclosporine, and/or 3,4-diaminopyridine. 3,4-diaminopyridine is available in Europe and may be available in the U.S. on a compassionate use basis. While there has been some evidence that either 3,4-diaminopyridine or IV immunoglobulin can improve muscle strength and nerve to muscle cell communication, the degree of benefit (i.e., how much symptoms are improved) still needs to be determined. + GARD + Lambert Eaton myasthenic syndrome
What are the symptoms of High molecular weight kininogen deficiency ?
What are the signs and symptoms of High molecular weight kininogen deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for High molecular weight kininogen 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) Autosomal recessive inheritance - Prolonged partial thromboplastin time - Reduced kininogen activity - 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 + High molecular weight kininogen deficiency