Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Gollop Coates syndrome ? 
 What are the signs and symptoms of Gollop Coates syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gollop Coates 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) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - 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) Acquired hemophilia ? 
 Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications. Treatment is aimed at controlling bleeding episodes and addressing the underlying cause of the condition.
What are the symptoms of Lassueur-Graham-Little syndrome ? 
 What are the signs and symptoms of Lassueur-Graham-Little syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lassueur-Graham-Little 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) Alopecia 90% Hyperkeratosis 90% Lichenification 50% Pruritus 50% 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) Galactosialidosis ? 
 Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.
What causes Galactosialidosis ? 
 What causes galactosialidosis? Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin binding protein. Elastin binding protein plays a role in the formation of elastic fibers, a component of the connective tissues that form the body's supportive framework. CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely. Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.
Is Galactosialidosis inherited ? 
 How is galactosialidosis inherited? Galactosialidosis 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.
What are the treatments for Galactosialidosis ? 
 How might galactosialidosis be treated? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled. Bone marrow transplant is under investigation as an experimental therapy. No conclusive results are currently available regarding the long term benefits of this treatment.
What are the symptoms of Hypomandibular faciocranial dysostosis ? 
 What are the signs and symptoms of Hypomandibular faciocranial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomandibular faciocranial dysostosis. 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) Anteverted nares 90% Aplasia/Hypoplasia of the tongue 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Recurrent respiratory infections 90% Short nose 90% Choanal atresia 50% Cleft palate 50% Craniosynostosis 50% Laryngeal atresia 50% Narrow mouth 50% Optic nerve coloboma 50% Polyhydramnios 50% Proptosis 50% Abnormality of female internal genitalia 7.5% Atria septal defect 7.5% Patent ductus arteriosus 7.5% Tracheal stenosis 7.5% Trigonocephaly 7.5% Upslanted palpebral fissure 7.5% Aglossia - Autosomal recessive inheritance - Choanal stenosis - Coronal craniosynostosis - Hypoplasia of the maxilla - Pursed lips - 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 Fucosidosis type 1 ? 
 What are the signs and symptoms of Fucosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Fucosidosis type 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) Coarse facial features 90% Cognitive impairment 90% Frontal bossing 90% Hearing impairment 90% Hepatomegaly 90% Hyperhidrosis 90% Hyperkeratosis 90% Hypothyroidism 90% Kyphosis 90% Lipoatrophy 90% Mucopolysacchariduria 90% Skeletal dysplasia 90% Abnormality of the gallbladder 50% Hemiplegia/hemiparesis 50% Hypertonia 50% Muscular hypotonia 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Seizures 50% Skeletal muscle atrophy 50% Splenomegaly 50% Abnormal pyramidal signs 7.5% Abnormality of the nail 7.5% Abnormality of the teeth 7.5% Acrocyanosis 7.5% Cardiomegaly 7.5% Abnormality of the abdominal wall - Absent/hypoplastic coccyx - Absent/hypoplastic paranasal sinuses - Angiokeratoma - Anhidrosis - Anterior beaking of lumbar vertebrae - Anterior beaking of thoracic vertebrae - Autosomal recessive inheritance - Barrel-shaped chest - Cerebral atrophy - Cervical platyspondyly - Coxa valga - Dry skin - Dysostosis multiplex - Elevated sweat chloride - Flexion contracture - Hernia - Hypertelorism - Intellectual disability - Lumbar hyperlordosis - Macroglossia - Oligosacchariduria - Polyneuropathy - Prominent forehead - Scoliosis - Shield chest - Short stature - Spastic tetraplegia - Thick eyebrow - Thick lower lip vermilion - Tortuosity of conjunctival vessels - Vacuolated lymphocytes - Wide nose - 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 Charcot-Marie-Tooth disease type 2N ? 
 What are the signs and symptoms of Charcot-Marie-Tooth disease type 2N? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2N. 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 - Autosomal dominant inheritance - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Peripheral axonal neuropathy - Pes cavus - Skeletal muscle atrophy - 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.
What are the symptoms of Spastic paraplegia 2 ? 
 What are the signs and symptoms of Spastic paraplegia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 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) Gait disturbance 90% Hyperreflexia 90% Muscle weakness 90% Abnormal renal physiology 50% Abnormality of extrapyramidal motor function 50% Bowel incontinence 50% Cognitive impairment 50% Optic atrophy 50% Incoordination 7.5% Limitation of joint mobility 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Pulmonary embolism 7.5% Recurrent respiratory infections 7.5% Babinski sign - Degeneration of the lateral corticospinal tracts - Dysarthria - Dysmetria - Flexion contracture - Intellectual disability - Juvenile onset - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Phenotypic variability - Skeletal muscle atrophy - Spastic gait - Spastic paraparesis - Spastic paraplegia - Spinocerebellar tract degeneration - X-linked recessive 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 is (are) Protein C deficiency ? 
 Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can cause a life-threatening pulmonary embolism. Most people with mild protein C deficiency never develop abnormal blood clots, but certain factors can increase the risk to develop a blood clot. In severe protein C deficiency, affected infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. This is characterized by blood clots that block normal blood flow and can lead to death of body tissues (necrosis). Abnormal bleeding can occur in various parts of the body causing purple patches on the skin. Protein C deficiency may be inherited or acquired. The inherited form is caused by mutations in the PROC gene and is inherited in an autosomal dominant manner. Most people with protein C deficiency do not have any symptoms and require no specific treatment. However, in situations of clot risk such as pregnancy, surgery or trauma, prevention treatment may be indicated. Patients with the severe form of the disease are treated depending on the symptoms. A protein C concentrate is effective in many cases. Liver transplant may cure the babies with this disease.
What are the symptoms of Protein C deficiency ? 
 What are the signs and symptoms of Protein C deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Protein C 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) Subcutaneous hemorrhage 50% Thin skin 50% Thrombophlebitis 50% Abnormality of skin pigmentation 7.5% Abnormality of the cerebral vasculature 7.5% Gangrene 7.5% Pulmonary embolism 7.5% Skin ulcer 7.5% Venous insufficiency 7.5% Abnormality of the eye - Abnormality of the nervous system - Autosomal dominant inheritance - Cerebral venous thrombosis - Deep venous thrombosis - Hypercoagulability - Reduced protein C activity - Superficial thrombophlebitis - Warfarin-induced skin necrosis - 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 Protein C deficiency ? 
 What causes protein C deficiency? Protein C deficiency can be inherited or acquired later in life. Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein C cannot control blood clotting, abnormal blood clots may form. Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), and vitamin K deficiency. Treatment with warfarin or certain types of chemotherapy can also cause acquired protein C deficiency.
Is Protein C deficiency inherited ? 
 How is protein C deficiency inherited? Hereditary protein C deficiency is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene in each cell is enough to cause mild protein C deficiency. A mutated copy of the gene can be inherited from a person's mother or father. People who inherit two mutated copies of the gene have severe protein C deficiency.
How to diagnose Protein C deficiency ? 
 How is protein C deficiency diagnosed? A diagnosis of protein C deficiency might be suspected in someone with a deep venous thrombosis (DVT) or a pulmonary embolism, especially if it occurs in a relatively young person (less than 50 years old) or has formed in an unusual location, such as the veins leading to the liver or kidney or the blood vessels of the brain. Laboratory tests are usually be done to look at the function or quantity of protein C in the blood. Functional tests are usually ordered, along with other tests for abnormal blood clotting, to screen for normal activity of protein C. Based on those results, concentrations of protein C may be measured to look for decreased production due to an acquired or inherited condition and to classify the type of deficiency. If the shortage of protein C is due to an inherited genetic change, the quantity of protein C available and the degree of activity can be used to help determine whether a person is heterozygous or homozygous for the mutation. Genetic testing is not necessary to make a diagnosis.
What are the treatments for Protein C deficiency ? 
 How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfarin, which help to prevent another blood clot from developing in the future. Preventative treatment with these blood-thinning drugs may also be considered in those with a family history of blood clotting, as well as in higher risk situations such as pregnancy. A protein C concentrate (Ceprotin) was approved by the Food and Drug Administration in 2007 for the treatment of protein C deficiency. High doses of intravenous protein C concentrates can help thin the blood and protect from blood clots. It can also be used a preventative treatment against blood clots during surgery, pregnancy delivery, prolonged immobility, or overwhelming infection in the blood stream (sepsis). Currently, no guidelines exist as to which patients should receive protein C concentrate. It is typically given only at times of increased risk for clotting, or when the blood thinner heparin by itself cannot be safely given because it would lead to an increased risk for bleeding. However, in those with severe protein C who have had severe bleeding complications on long-term blood thinning therapy, protein C concentrate has been used on a regular basis.