Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Hemophagocytic lymphohistiocytosis ? 
 What are the signs and symptoms of Hemophagocytic lymphohistiocytosis? The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood. The features of this condition may include: Fever Enlarged liver and/or spleen Skin rash Lymph node enlargement Breathing problems Easy bruising and/or abnormal bleeding Kidney abnormalities Heart problems Increased risk for certain cancers (leukemia, lymphoma) Many people with this condition also develop neurologic abnormalities. The neurological symptoms vary but may include irritability, fatigue, abnormal muscle tone, seizures, neck stiffness, mental status changes, ataxia, blindness, paralysis, and/or coma. The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis. 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) Reduced natural killer cell activity 13/13 Granulocytopenia 11/14 Neutropenia 5/7 Abnormal natural killer cell physiology - Anemia - Ataxia - Autosomal recessive inheritance - Coma - CSF pleocytosis - Encephalitis - Episodic fever - Failure to thrive - Fever - Generalized edema - Hemiplegia - Hemophagocytosis - Hepatomegaly - Hepatosplenomegaly - Hyperbetalipoproteinemia - Hypertonia - Hypertriglyceridemia - Hypoalbuminemia - Hypoalphalipoproteinemia - Hypofibrinogenemia - Hyponatremia - Hypoproteinemia - Increased circulating very-low-density lipoprotein cholesterol - Increased CSF protein - Increased intracranial pressure - Increased serum ferritin - Increased total bilirubin - Irritability - Jaundice - Leukopenia - Lymphadenopathy - Meningitis - Muscular hypotonia - Prolonged partial thromboplastin time - Prolonged prothrombin time - Seizures - Splenomegaly - Tetraplegia - Thrombocytopenia - 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 Hemophagocytic lymphohistiocytosis ? 
 What causes hemophagocytic lymphohistiocytosis? There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene that helps regulate the immune system. The genetic cause of familial HLH, type 1 is currently unknown. Familial HLH, type 2 is caused by mutations in the PRF1 gene. Familial HLH, type 3 is caused by mutations in the UNC13D gene. Familial HLH, type 4 is caused by mutations in the STX11 gene. Familial HLH, type 5 is caused by mutations in the STXBP2 gene.  All of the genes that cause HLH serve as the instructions for proteins that help destroy or turn off activated immune cells that are no longer needed. Changes in these genes lead to an overproduction of immune cells which results in an excessive immune response and the many signs and symptoms of familial HLH. The acquired causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases.
Is Hemophagocytic lymphohistiocytosis inherited ? 
 Is hemophagocytic lymphohistiocytosis inherited? Hemophagocytic lymphohistiocytosis (HLH) may be inherited or acquired (due to non-genetic factors). Familial HLH is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change (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. Acquired HLH is not inherited. The non-genetic causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases.
How to diagnose Hemophagocytic lymphohistiocytosis ? 
 Is genetic testing available for hemophagocytic lymphohistiocytosis? Yes. Clinical genetic testing is available for the four genes known to cause familial hemophagocytic lymphohistiocytosis, types 2-5. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. Molecular genetic testing is not available for familial hemophagocytic lymphohistiocytosis, type 1 because the genetic cause is currently unknown. Genetic testing is not available for acquired HLH because it is caused by non-genetic factors. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is hemophagocytic lymphohistiocytosis diagnosed? A diagnosis of hemophagocytic lymphohistiocytosis (HLH) is based on the presence of certain signs and symotoms. A person is considered affected by this condition if they have at least five of the following symptoms: Fever Enlarged spleen Cytopenia (lower-than-normal number of blood cells) Elevated levels of triglycerides or fibrinogen in the blood Hemophagocytosis (the destruction of certain types of blood cells by histiocytes) on bone marrow, spleen or lymph node biopsy Decreased or absent NK cell activity High levels of ferritin in the blood Elevated blood levels of CD25 (a measure of prolonged immune cell activation) The diagnosis of familial HLH, types 2-5 can be confirmed with genetic testing.
What are the treatments for Hemophagocytic lymphohistiocytosis ? 
 How might hemophagocytic lymphohistiocytosis be treated? The best treatment options for hemophagocytic lymphohistiocytosis (HLH) are determined by a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. In acquired HLH, it is often necessary to treat the underlying condition. For example, antiobiotics or antiviral medications can be used to treat or prevent infections that may have triggered the exaggerated immune response. Allogeneic hematopoietic cell transplantation is considered a cure for familial HLH. It is often recommended that people with confirmed or suspected familial HLH undergo this treatment as early in life as possible. Prior to hematopoietic cell transplanation, affected people are usually treated with chemotherapy and/or immunotherapy to destroy excess immune cells which can lead to life-threatening inflammation.
What is (are) Vohwinkel syndrome ? 
 Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner. Although there is currently no cure for the condition, treatments are available to alleviate symptoms.
What are the symptoms of Vohwinkel syndrome ? 
 What are the signs and symptoms of Vohwinkel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vohwinkel 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) Sensorineural hearing impairment 90% Abnormality of the genital system 50% Cognitive impairment 50% Abnormality of the toenails 7.5% Alopecia 7.5% Cleft palate 7.5% Ichthyosis 7.5% Osteolysis 7.5% Self-injurious behavior 7.5% Amniotic constriction ring - Autoamputation of digits - Autosomal dominant inheritance - Honeycomb palmoplantar keratoderma - 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 Arthrogryposis, distal, type 2E ? 
 What are the signs and symptoms of Arthrogryposis, distal, type 2E? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, type 2E. 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) Absent antihelix - Autosomal dominant inheritance - Distal arthrogryposis - Joint contracture of the hand - Joint contractures involving the joints of the feet - Microcephaly - Mild microcephaly - Narrow mouth - Talipes equinovarus - 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) Fuchs endothelial corneal dystrophy ? 
 Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea. There are several forms of the disease according to the age of onset of the symptoms and the cause. The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change (mutation) in the COL8A2 gene. Late-onset Fuchs endothelial corneal dystrophies are common and include: Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13) Fuchs endothelial corneal dystrophy 3 (may be caused by TCF4 gene mutations) Fuchs endothelial corneal dystrophy 4 (caused by a mutation in the SLC4A11 gene) Fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15) Fuchs endothelial corneal dystrophy 6 (caused by a mutation in the ZEB1 gene) Fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9) Fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the AGBL1 gene).  Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases.
Is Fuchs endothelial corneal dystrophy inherited ? 
 How is Fuchs endothelial corneal dystrophy inherited? The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene (which is the early-onset form of the disease), it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional.
What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 22 ? 
 What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 22? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 22. 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 dominant inheritance - Sensorineural hearing impairment - 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 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.
What is (are) 15q11.2 microdeletion ? 
 15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.
What are the symptoms of 15q11.2 microdeletion ? 
 What are the signs and symptoms of 15q11.2 microdeletion? The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. Some people with the microdeletion don't have any apparent features, while others are more severely affected. When not all people with a genetic abnormality are affected, the condition is said to have reduced penetrance. When signs and symptoms vary among affected people, the condition is said to have variable expressivity. The most commonly reported features in people with a 15q11.2 microdeletion include neurological dysfunction, developmental delay, language delay, motor delay, ADD/ADHD, and autism spectrum disorder. Other signs and symptoms that have been reported include seizures; abnormally shaped ears; abnormalities of the palate (roof of the mouth); memory problems; behavioral problems; and mental illness. While some babies with a 15q11.2 microdeletion are born with a minor or serious birth defect, many babies are born completely healthy. You may read additional information about this microdeletion in Unique's guide entitled '15q11.2 microdeletions.' This guide contains information from both the published medical literature and from a survey of members with a 15q11.2 microdeletion. The Human Phenotype Ontology provides the following list of signs and symptoms for 15q11.2 microdeletion. 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 cardiovascular system morphology - Ataxia - Autistic behavior - Autosomal dominant inheritance - Broad forehead - Cleft palate - Clumsiness - Delayed speech and language development - Feeding difficulties - Happy demeanor - Hypertelorism - Incomplete penetrance - Intellectual disability - Muscular hypotonia - Obsessive-compulsive behavior - Plagiocephaly - Seizures - Slender finger - 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 15q11.2 microdeletion ? 
 What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion. The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.
What are the symptoms of Prosopagnosia, hereditary ? 
 What are the signs and symptoms of Prosopagnosia, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Prosopagnosia, hereditary. 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 dominant inheritance - Prosopagnosia - 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.