fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Reducing body myopathy ?
What are the signs and symptoms of Reducing body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Reducing body myopathy. 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) Dilated cardiomyopathy 5% Areflexia - Elevated serum creatine phosphokinase - Flexion contracture - Frequent falls - Hyperlordosis - Hyporeflexia - Increased variability in muscle fiber diameter - Kyphosis - Proximal muscle weakness - Rapidly progressive - Respiratory insufficiency due to muscle weakness - Scoliosis - Short neck - Spinal rigidity - X-linked dominant inheritance - 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 + Reducing body myopathy
What are the symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig ?
What are the signs and symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis-mental retardation syndrome of Lin and Gettig. 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) Agenesis of corpus callosum - Ambiguous genitalia, male - Arnold-Chiari type I malformation - Autosomal recessive inheritance - Blepharophimosis - Camptodactyly - Cleft palate - Craniosynostosis - Cryptorchidism - Decreased palmar creases - Dolichocephaly - Epicanthus - Feeding difficulties in infancy - Glabellar hemangioma - Hand clenching - Hydronephrosis - Hypertelorism - Hypertonia - Hypoplasia of midface - Hypoplastic philtrum - Hypospadias - Hypotelorism - Inguinal hernia - Intellectual disability, progressive - Intellectual disability, severe - Intestinal malrotation - Joint contracture of the hand - Long philtrum - Low-set ears - Malar flattening - Micropenis - Microtia - Multiple joint contractures - Multiple small bowel atresias - Narrow chest - Omphalocele - Pectus carinatum - Pectus excavatum - Ptosis - Sensorineural hearing impairment - Short columella - Short nose - Slender finger - Smooth philtrum - Stenosis of the external auditory canal - Strabismus - Supernumerary nipple - Thin vermilion border - Trigonocephaly - Turricephaly - Umbilical hernia - Upslanted palpebral fissure - Ventricular septal defect - Vesicoureteral reflux - Wide intermamillary distance - 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 + Craniosynostosis-mental retardation syndrome of Lin and Gettig
What are the symptoms of Cerebral gigantism jaw cysts ?
What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. 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) Accelerated skeletal maturation 90% Bone cyst 90% Cerebral calcification 90% EEG abnormality 90% Macrocephaly 90% Tall stature 90% Incoordination 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. + GARD + Cerebral gigantism jaw cysts
What is (are) Multiple endocrine neoplasia type 1 ?
Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone-producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which can cause a variety of health problems. The most common signs and symptoms of MEN1 are caused by hyperparathyroidism (overactive parathyroid gland) and may include kidney stones; thinning of bones; nausea and vomiting; high blood pressure (hypertension); weakness; and fatigue. MEN1 is caused by changes (mutations) in the MEN1 gene and is inherited in an autosomal dominant manner. Management for MEN1 usually includes regular screening to allow for early diagnosis and treatment of endocrine tumors. + GARD + Multiple endocrine neoplasia type 1
What causes Multiple endocrine neoplasia type 1 ?
What causes multiple endocrine neoplasia, type 1? Multiple endocrine neoplasia, type 1 (MEN1) is caused by mutations in the MEN1 gene. MEN1 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Changes (mutations) in MEN1 result in a defective protein that is unable to carry out its normal role. This leads to the development of the many different types of tumors found in MEN1. + GARD + Multiple endocrine neoplasia type 1
Is Multiple endocrine neoplasia type 1 inherited ?
How is multiple endocrine neoplasia, type 1 inherited? Multiple endocrine neoplasia, type 1 (MEN1) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with MEN1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child. + GARD + Multiple endocrine neoplasia type 1
How to diagnose Multiple endocrine neoplasia type 1 ?
Is genetic testing available for multiple endocrine neoplasia, type 1? Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. 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 multiple endocrine neoplasia, type 1 diagnosed? A diagnosis of multiple endocrine neoplasia, type 1 (MEN1) is based on the presence of two of the following endocrine tumors: parathyroid tumors; pituitary tumors; and/or stomach, bowel or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors. People with only one of the tumors may also receive a diagnosis of MEN1 if they have other family members with the condition. Identification of a change (mutation) in the MEN1 gene can be used to confirm the diagnosis. In addition to a complete physical exam and medical history, laboratory tests that evaluate the levels of certain hormones in the blood or urine are often used detect the different types of tumors found in MEN1. Imaging studies such as computed tomography (CT scan), magnetic resonance imaging (MRI scan), and/or endoscopic ultrasound may be recommended to confirm the location and size of the tumors. Some people may also need a biopsy of the tumor to confirm the diagnosis. + GARD + Multiple endocrine neoplasia type 1
What are the treatments for Multiple endocrine neoplasia type 1 ?
How might multiple endocrine neoplasia, type 1 be treated? People with multiple endocrine neoplasia, type 1 (MEN1) are usually managed with regular screening to allow for early diagnosis and treatment of endocrine tumors. This screening begins in early childhood and continues for life. Recommended screening includes specific types of imaging studies every 3-5 years: Head magnetic resonance imaging (MRI scan) begining at age 5. Abdominal computed tomography (CT scan) or abdominal MRI scan beginning at age 20. Annual blood tests are also recommended, which evaluate the levels of certain substances that can be elevated if an MEN1-associated tumor is present: Prolactin concentrations, which can be used to screen for pituitary tumors, are measured beginning at age 5. Calcium concentrations, which can be used to screen for parathyroid tumors, are measured beginning at age 8. Gastrin concentrations, which can be used to screen for gastrinomas (a specific type of gastro-entero-pancreatic tract tumor) are measured beginning at age 20. When a tumor is detected through screening, the best treatment options depend on many factors, including the size, location, and type of tumor; and whether or not the tumor is "functional" (releasing hormones). Many tumors are treated with surgery. If a tumor is functional, removal of the affected endocrine gland often resolves health problems that may be present as a result of elevated hormones. In some cases, functional tumors can be treated with medications that block the function or lower the levels of the overproduced hormone. Chemotherapy or radiation therapy may also be used to to shrink or destroy tumors. + GARD + Multiple endocrine neoplasia type 1
What is (are) Galloway-Mowat syndrome ?
Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present. + GARD + Galloway-Mowat syndrome
What are the symptoms of Galloway-Mowat syndrome ?
What are the signs and symptoms of Galloway-Mowat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Galloway-Mowat 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) Cognitive impairment 90% Hypoplasia of the ear cartilage 90% Microcephaly 90% Nephropathy 90% Nephrotic syndrome 90% Proteinuria 90% Abnormality of neuronal migration 50% EEG abnormality 50% Intrauterine growth retardation 50% Macrotia 50% Premature birth 50% Seizures 50% Short stature 50% Abnormality of immune system physiology 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the teeth 7.5% Adducted thumb 7.5% Aqueductal stenosis 7.5% Camptodactyly of finger 7.5% Hemiplegia/hemiparesis 7.5% Hypertelorism 7.5% Hypertonia 7.5% Hypotelorism 7.5% Muscular hypotonia 7.5% Ataxia 5% Dandy-Walker malformation 5% Dystonia 5% Feeding difficulties 5% Spastic tetraplegia 5% Autosomal recessive inheritance - Camptodactyly - Cataract - Cerebellar atrophy - Cerebral atrophy - Diffuse mesangial sclerosis - Epicanthus - Flat occiput - Focal segmental glomerulosclerosis - Hand clenching - Hiatus hernia - High palate - Hyperreflexia - Hypoalbuminemia - Hypopigmentation of the skin - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Infantile onset - Intellectual disability - Joint contracture of the hand - Low-set ears - Microphthalmia - Narrow nasal ridge - Nystagmus - Oligohydramnios - Opacification of the corneal stroma - Optic atrophy - Pachygyria - Pes cavus - Prominent nose - Ptosis - Slender finger - Sloping forehead - Small for gestational age - Small nail - Strabismus - Talipes equinovarus - Wide mouth - 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 + Galloway-Mowat syndrome
Is Galloway-Mowat syndrome inherited ?
How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier + GARD + Galloway-Mowat syndrome
How to diagnose Galloway-Mowat syndrome ?
Is genetic testing available for Galloway-Mowat syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may also be responsible. In some cases, carrier testing for unaffected relatives may only be available if the specific mutation in the affected family member is known. 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. + GARD + Galloway-Mowat syndrome
What is (are) Hashimoto's syndrome ?
Hashimotos syndrome is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones (hypothyroidism). An early sign of the condition may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may include tiredness, weight gain, thin and dry hair, joint or muscle pain, constipation, cold intolerance, and/or a slowed heart rate. Affected women may have irregular menstrual periods or difficulty becoming pregnant. Hashimotos syndrome is the most common cause of hypothyroidism in the United States. It is more common in women than in men, and it usually appears in mid-adulthood. The exact cause is unknown but it is thought to result from a combination of genetic and environmental factors. Treatment is not always needed, but may include taking synthetic thyroid hormone. + GARD + Hashimoto's syndrome
What are the symptoms of Hashimoto's syndrome ?
What are the signs and symptoms of Hashimoto's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hashimoto's 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) Autoimmune antibody positivity - Autosomal dominant inheritance - Hashimoto thyroiditis - 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 + Hashimoto's syndrome
What causes Hashimoto's syndrome ?
What causes Hashimotos syndrome? Hashimoto's syndrome is an autoimmune disorder thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. People with Hashimotos syndrome have antibodies to various thyroid antigens. The antibodies "attack" the thyroid, resulting in damage to the gland. Most of the genes associated with Hashimotos syndrome are part of a gene family called the human leukocyte antigen (HLA) complex, which helps the immune system distinguish the body's own proteins from proteins made by viruses and bacteria or other agents. However, the genetic factors have only a small effect on a person's overall risk of developing this condition. Non-genetic factors that may trigger the condition in people at risk may include changes in sex hormones (particularly in women), viral infections, certain medications, exposure to ionizing radiation, and excess consumption of iodine (a substance involved in thyroid hormone production). + GARD + Hashimoto's syndrome
Is Hashimoto's syndrome inherited ?
Is Hashimoto's syndrome inherited? The inheritance pattern of Hashimoto's syndrome is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto's syndrome or another autoimmune disorder likely increases a person's risk of developing the condition. + GARD + Hashimoto's syndrome
What are the symptoms of Spondylometaphyseal dysplasia Sedaghatian type ?
What are the signs and symptoms of Spondylometaphyseal dysplasia Sedaghatian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Sedaghatian type. 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) Brachydactyly syndrome 90% Delayed skeletal maturation 90% Platyspondyly 90% Sprengel anomaly 90% Sudden cardiac death 90% Narrow chest 50% Accelerated skeletal maturation 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% 11 pairs of ribs - Atria septal defect - Autosomal recessive inheritance - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Cupped ribs - Delayed epiphyseal ossification - Depressed nasal bridge - Flared iliac wings - Flat acetabular roof - Focal lissencephaly - Iliac crest serration - Irregular tarsal bones - Large posterior fontanelle - Long fibula - Metaphyseal cupping - Metaphyseal irregularity - Muscular hypotonia - Narrow greater sacrosciatic notches - Porencephaly - Posteriorly rotated ears - Redundant skin - Rhizomelia - Short finger - Short long bone - Short metacarpal - Short neck - Short phalanx of finger - Short ribs - Short toe - Spondylometaphyseal dysplasia - Talipes equinovarus - Turricephaly - Widened sacrosciatic notch - 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 + Spondylometaphyseal dysplasia Sedaghatian type