fenil210/Med-Lamma huggingface dataset:
What causes Kawasaki syndrome ?
What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells, which identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and can, when present in large quantities, can cause tissue damage. Researchers believe that variations in the ITPKC gene may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the symptoms of this disease. It is likely that other factors, including changes in additional genes, also influence the development of this complex disorder. What causes Kawasaki syndrome? The cause of Kawasaki syndrome isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics is not well understood. Kawasaki syndrome is not contagious; it can't be passed from one child to another. + GARD + Kawasaki syndrome
Is Kawasaki syndrome inherited ?
Is Kawasaki syndrome inherited? A predisposition to Kawasaki syndrome appears to be passed through generations in families, but the inheritance pattern is unknown. + GARD + Kawasaki syndrome
What are the treatments for Kawasaki syndrome ?
How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin as part of the treatment plan. We found limited information on the management of Kawasaki disease specifically in adults, however you may find the following articles to be helpful: Dauphin C. et al., Kawasaki disease is also a disease of adults: report of six cases. Arch Mal Coeur Vaiss [serial online]. 2007;100(5):439-447. Sve P, Stankovic K, Smail A, Durand DV, Marchand G, and Broussolle C. Adult Kawasaki disease: report of two cases and literature review. Semin Arthritis Rheum. 2005;34(6):785-792. Sve P, Bui-Xuan C, Charhon A, and Broussolle C. Adult Kawasaki disease. Rev Med Interne [serial online]. 2003;24(9):577-584.In the article listed above by Dauphin C. et al. the authors describe that of the five adult patients with Kawasaki disease who were treated, all progressed favorably after a course of immunoglobulins.  In addition, in the article by Sve P. et al., the authors comment that 'although adult KD often was diagnosed after the acute phase, when a significant beneficial effect from gammaglobulin infusion could not be expected, this treatment did appear to shorten the course of the disease.' + GARD + Kawasaki syndrome
What is (are) Neuroferritinopathy ?
Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion. + GARD + Neuroferritinopathy
What are the symptoms of Neuroferritinopathy ?
What are the signs and symptoms of Neuroferritinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroferritinopathy. 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) Chorea 90% Hypertonia 90% Incoordination 90% Abnormality of eye movement 50% Feeding difficulties in infancy 50% Gait disturbance 50% Constipation 7.5% Developmental regression 7.5% Hypotension 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Anarthria - Ataxia - Autosomal dominant inheritance - Babinski sign - Blepharospasm - Bradykinesia - Cavitation of the basal ganglia - Choreoathetosis - Decreased serum ferritin - Dementia - Disinhibition - Dysarthria - Dysphagia - Emotional lability - Hyperreflexia - Laryngeal dystonia - Mutism - Neurodegeneration - Parkinsonism - Phenotypic variability - Progressive - Rigidity - Spasticity - Writer's cramp - 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 + Neuroferritinopathy
What is (are) Satoyoshi syndrome ?
Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia universalis also appears around age 10. About half of affected individuals experience malabsorption, specifically of carbohydrates. The skeletal abnormalities may be secondary to muscle spasms. The main endocrine disorder is primary amenorrhea. All cases have apparently been sporadic, even when occurring in large families. The exact cause is unknown; but some researchers have speculated that Satoyoshi syndrome is an autoimmune disorder. + GARD + Satoyoshi syndrome
What are the symptoms of Satoyoshi syndrome ?
What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi 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 epiphysis morphology 90% Abnormality of the eyelashes 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metaphyses 90% Abnormality of the wrist 90% Genu varum 90% Hyperlordosis 90% Limb undergrowth 90% Microcephaly 90% Polycystic ovaries 90% Secondary amenorrhea 90% Short stature 90% Tapered finger 90% Brachydactyly syndrome 5% Short metacarpal 5% Short metatarsal 5% Alopecia universalis - Amenorrhea - Diarrhea - Genu valgum - Hypoplasia of the uterus - Malabsorption - Mildly elevated creatine phosphokinase - Osteolytic defects of the phalanges of the hand - Pes planus - Skeletal muscle hypertrophy - Sporadic - 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 + Satoyoshi syndrome
What is (are) Leukoplakia ?
Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface. The condition is thought to be caused by irritation, but the cause is not always known. Tobacco is considered to be the main cause of its development in the mouth. Most patches are benign, but a small percentage show early signs of cancer. Removing the source of irritation may cause the condition to go away, but surgery to remove the sore(s) may be necessary in some cases. + GARD + Leukoplakia
What are the symptoms of Leukoplakia ?
What are the early signs of cancer in vulvar leukoplakia? Early signs of cancer may not be apparent. The clinical appearance of leukoplakia does not generally correlate with its appearance when examined under a microscope. For example, the lesion may appear unchanged for a period of time but may actually show changes when looked at under a microscope. Therefore, a biopsy is typically recommended in all cases to determine which lesions are precancerous. Small lesions may be biopsied and just followed periodically if it is shown to remain benign. However, those that show precancerous or cancerous features should be removed. + GARD + Leukoplakia
What are the treatments for Leukoplakia ?
How might leukoplakia be treated? For most people, removing the source of irritation is important and often causes the lesion to disappear. For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition. Dental causes such as rough teeth or fillings should be treated as soon as possible. When this is not effective or if the lesions show early signs of cancer, treatment may include removing the patches. The lesion is usually removed in the health care provider's office using local anesthesia. Leukoplakia on the vulva is treated in the same way as oral lesions. Recurrences are common, so follow-up visits with a physician are recommended. + GARD + Leukoplakia
What is (are) Spondylocostal dysostosis 4 ?
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited.  Spondylocostal dysostosis 4 is caused by mutations in the HES7 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis. + GARD + Spondylocostal dysostosis 4
What are the symptoms of Spondylocostal dysostosis 4 ?
What are the signs and symptoms of Spondylocostal dysostosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 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) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Abnormality of the odontoid process - Autosomal recessive inheritance - Block vertebrae - Hemivertebrae - Missing ribs - Myelomeningocele - Restrictive respiratory insufficiency - Rib fusion - Situs inversus totalis - Unilateral vertebral artery hypoplasia - 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 + Spondylocostal dysostosis 4
What are the symptoms of Reticular dysgenesis ?
What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular dysgenesis. 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 mitochondrial metabolism 90% Abnormality of neutrophils 90% Anemia 90% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Diarrhea 90% Hearing impairment 90% Leukopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sepsis 90% Severe combined immunodeficiency 90% Abnormality of temperature regulation 50% Malabsorption 50% Weight loss 50% Dehydration 7.5% Skin rash 7.5% Skin ulcer 7.5% Abnormality of the thymus - Absent cellular immunity - Autosomal recessive inheritance - Congenital agranulocytosis - Lymphopenia - 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 + Reticular dysgenesis
What are the symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency ?
What are the signs and symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos-like syndrome due to tenascin-X 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) Bruising susceptibility 90% Hyperextensible skin 90% Joint hypermobility 90% Arthralgia 50% Joint dislocation 50% Muscle weakness 50% Muscular hypotonia 50% Myalgia 50% Peripheral neuropathy 50% Skeletal muscle atrophy 50% Thin skin 50% Abnormality of the mitral valve 7.5% Arrhythmia 7.5% Atherosclerosis 7.5% Cerebral ischemia 7.5% Gastrointestinal hemorrhage 7.5% Hypercortisolism 7.5% Spina bifida occulta 7.5% Increased connective tissue 5% Muscle fiber splitting 5% Proximal amyotrophy 5% Proximal muscle weakness 5% Ambiguous genitalia, female - Autosomal recessive inheritance - Bicornuate uterus - Hiatus hernia - Mitral valve prolapse - Soft skin - Vesicoureteral reflux - 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 + Ehlers-Danlos-like syndrome due to tenascin-X deficiency
What are the symptoms of Rienhoff syndrome ?
What are the signs and symptoms of Rienhoff syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rienhoff 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) Brachycephaly 5% Broad face 5% Bruising susceptibility 5% Cerebral hemorrhage 5% Cervical spine instability 5% Dolichocephaly 5% Hypoplasia of midface 5% Long face 5% Motor delay 5% Patent foramen ovale 5% Ptosis 5% Smooth philtrum 5% Spondylolisthesis 5% Talipes equinovarus 5% Ventricular septal defect 5% Arachnodactyly - Autosomal dominant inheritance - Bifid uvula - Bilateral coxa valga - Blue sclerae - Cleft palate - Decreased muscle mass - Exotropia - Hiatus hernia - High palate - Hypertelorism - Hyporeflexia - Increased arm span - Inguinal hernia - Joint hypermobility - Kyphoscoliosis - Mitral regurgitation - Pectus carinatum - Pectus excavatum - Pes planus - Proptosis - Retrognathia - Short stature - Small for gestational age - Tall stature - 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 + Rienhoff syndrome
What are the symptoms of Wellesley Carmen French syndrome ?
What are the signs and symptoms of Wellesley Carmen French syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wellesley Carmen French 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 oral cavity 50% Cataract 50% Cavernous hemangioma 50% Epicanthus 50% Hypermetropia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Short stature 50% Umbilical hernia 50% Accessory oral frenulum - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Curly hair - Posterior polar cataract - Posteriorly rotated ears - Short nose - Short palpebral fissure - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Wellesley Carmen French syndrome
What is (are) Congenital varicella syndrome ?
Congenital varicella syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth  due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). Affected newborns may have a low birth weight and characteristic abnormalities of the skin, brain, eyes, the arms, legs, hands, and/or feet, and/or, in rare cases, other areas of the body. The range and severity of associated symptoms and physical findings may vary greatly from case to case depending upon when maternal varicella zoster infection occurred during fetal development. + GARD + Congenital varicella syndrome