fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Spinocerebellar ataxia X-linked type 3 ?
What are the signs and symptoms of Spinocerebellar ataxia X-linked type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia X-linked type 3. 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% Incoordination 90% Muscular hypotonia 90% Optic atrophy 90% Sensorineural hearing impairment 90% Areflexia - Cerebellar atrophy - Death in infancy - Dementia - Dysmetria - Dysphagia - Episodic hypoventilation - Episodic respiratory distress - Esotropia - Gastroesophageal reflux - Gliosis - Head titubation - Hyporeflexia - Infantile onset - Intention tremor - Lethargy - Muscle weakness - Neuronal loss in central nervous system - Optic disc pallor - Recurrent respiratory infections - Seizures - Spasticity - Unilateral vocal cord paralysis - Vomiting - 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. + GARD + Spinocerebellar ataxia X-linked type 3
What are the symptoms of Microcephaly-albinism-digital anomalies syndrome ?
What are the signs and symptoms of Microcephaly-albinism-digital anomalies syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly-albinism-digital anomalies 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) Aplasia/Hypoplasia of the distal phalanges of the toes 90% Cognitive impairment 90% Generalized hypopigmentation 90% Microcephaly 90% Ocular albinism 90% Short distal phalanx of finger 90% Albinism - 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 + Microcephaly-albinism-digital anomalies syndrome
What is (are) Coccygodynia ?
Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury. + GARD + Coccygodynia
What are the symptoms of Coccygodynia ?
What signs and symptoms are associated with coccygodynia? The classic symptom is pain when pressure is applied to the tailbone, such as when sitting on a hard chair. Symptoms usually improve with relief of pressure when standing or walking . Other symptoms include : Immediate and severe pain when moving from sitting to standing Pain during bowel movements Pain during sex Deep ache in the region of the tailbone + GARD + Coccygodynia
What causes Coccygodynia ?
What causes coccygodynia? A number of different causes have been associated with coccygodynia. However, the most common cause is a direct fall and injury to the area of the sacrum and coccyx. These types of injuries can occur from various activities, examples include a kick, an injury on a trampoline when one hits the bar or springs that surround the trampoline jumping pad, or from falling from a horse or skis. Another common cause, exclusive to women, is childbirth. The other most common cause of the condition is pregnancy. During the last three months of pregnancy, certain hormones are released in the women's body causing the area between the sacrum and the coccyx to soften and become more mobile. The increased mobility may result in permanent stretching and change and causing inflammation of the tissues surrounding the coccyx. In about one third of all cases of coccygodynia, the cause is unknown. Other less common causes include nerve damage, cysts such as Tarlov cysts, obesity, and a bursitis like condition that can arise in slim patients who have little buttocks fat padding. + GARD + Coccygodynia
What are the treatments for Coccygodynia ?
What treatment is available for coccygodynia? Treatment for coccygodynia generally falls into conservative management or surgical intervention categories. The conservative approach typically includes hot sitz baths, NSAIDs, stool softeners, and/or the use of a donut-shaped pillow or gel cushion to descrease pressure and irritation of the coccyx. If these treatment options fails, glucocorticoid injections may be used in an attempt to reduce the pain. Massage therapy has also been used to help decrease pain, but most studies have shown that the relief experienced from this form of therapy is temporary. The more aggressive and rare approach involves either partial or complete removal of the coccyx (coccygectomy). + GARD + Coccygodynia
What is (are) Ewing sarcoma ?
Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. It may also develop in the skull or the flat bones of the trunk. There are few symptoms. The most common is pain and occasionally swelling at the site of the tumor. Fever may also be present. The tumor often spreads (metastasis) to the lungs and other bones. The cause of Ewing sarcoma is unknown. Most cases are thought to occur randomly and many involved a reciprocal translocation between chromosomes 11 and 22. Treatment depends upon a number of factors, but may include chemotherapy, radiation and/or surgical interventions. + GARD + Ewing sarcoma
What are the symptoms of Ewing sarcoma ?
What are the signs and symptoms of Ewing sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Ewing sarcoma. 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) Ewing's sarcoma - Somatic mutation - 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 + Ewing sarcoma
What causes Ewing sarcoma ?
What causes Ewing sarcoma? The exact cause of Ewing sarcoma remains largely unknown. Chromosomal studies have found that Ewing sarcoma cells are often characterized by an abnormal change in their genetic makeup known as a reciprocal translocation. The most common mutation, occurring in approximately 85% of Ewing sarcoma tumors, involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. This rearrangement of genetic material between chromosomes 22 and 11 fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. This mutation is acquired during a person's lifetime and is present only in tumor cells. This type of genetic change, called a somatic mutation, is not inherited. In extremely rare cases, Ewing sarcoma may develop as a second malignancy, which means that the condition develops as a late-onset complication of earlier treatment for another form of cancer. + GARD + Ewing sarcoma
Is Ewing sarcoma inherited ?
Is Ewing sarcoma an inherited condition? This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception (somatic mutation). Most cases are considered to be sporadic. However, the incidence of neuroectodermal and stomach malignancies is increased among family members of patients with tumors of the Ewing sarcoma family.  A search of the medical literature did identify a very small number of cases of Ewing sarcoma among siblings. To access articles on this topic, click here. + GARD + Ewing sarcoma
What is (are) 47, XYY syndrome ?
47, XYY syndrome is a condition in males characterized by features that occur due to having an extra copy of the Y chromosome in each cell. Signs and symptoms can vary and range from barely noticeable to more severe; many men with the extra Y chromosome are completely unaware of its presence. Appearance and intelligence are usually normal, but learning disabilities may be present. Other signs and symptoms may include autism spectrum disorder (usually on the milder end); speech or motor delay; low muscle tone; asthma; tall stature; impaired social skills; ADHD; and/or anxiety or mood disorders. While sexual development and infertility is usually normal, some adolescents and adults have testicular failure. 47, XYY syndrome usually is not inherited, occurring due to a random event in the formation of a sperm cell prior to conception. Management depends on the symptoms in each person and may include intervention or therapies for developmental delays, behavior or mood disorders; and/or special education. + GARD + 47, XYY syndrome
What causes 47, XYY syndrome ?
What causes 47, XYY syndrome? 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. This is typically due to a random event during the formation of a sperm cell in the father, usually before conception (fertilization of the egg). In this case, the father's two Y chromosomes do not separate when sperm cells are being made. If two Y chromosomes are present in a sperm that fertilizes an egg (with an X chromosome), the resulting embryo will be a male with an extra Y chromosome. It is also possible that a similar random event could occur very early in an embryo's development. It is not fully understood why an extra copy of the Y chromosome leads to an increased risk for the features associated with 47, XYY syndrome in some males. Importantly, there is nothing either parent can do (or not do) to cause or prevent 47, XYY syndrome. + GARD + 47, XYY syndrome
Is 47, XYY syndrome inherited ?
Is 47, XYY syndrome inherited? 47, XYY syndrome is usually not inherited. It is typically due to a random event during the formation of a sperm cell. Recurrence of 47, XYY syndrome in a family is rare. The recurrence risk for siblings and other family members is not thought to be increased. Additionally, men with 47, XYY are not reported to have an increased risk for a child with a chromosome variation. People with personal questions about recurrence risks are encouraged to speak with a genetic counselor or other genetic professional. + GARD + 47, XYY syndrome
What is (are) Laron syndrome ?
Laron syndrome is a condition that occurs when the body is unable to utilize growth hormone. It is primarily characterized by short stature. Other signs and symptoms vary but may include reduced muscle strength and endurance; hypoglycemia in infancy; delayed puberty; short limbs (arms and legs); and obesity. It is often caused by changes (mutations) in the GHR gene and is inherited in an autosomal recessive manner. Treatment is focused on improving growth and generally includes injections of insulin-like growth factor 1 (IGF-1). + GARD + Laron syndrome
What are the symptoms of Laron syndrome ?
What are the signs and symptoms of Laron syndrome? Laron syndrome is a rare condition in which the body is unable to use growth hormone. The primary symptom is short stature. Although affected people are generally close to average size at birth, they experience slow growth from early childhood. If left untreated, adult males with Laron syndrome typically reach a maximum height of about 4.5 feet and adult females may be just over 4 feet tall. Other signs and symptoms associated with the condition vary but may include: Reduced muscle strength and endurance Hypoglycemia in infancy Delayed puberty Small genitals Thin, fragile hair Dental abnormalities Short limbs (arms and legs) Obesity Distinctive facial features (protruding forehead, a sunken bridge of the nose, and blue sclerae) People affected by Laron syndrome appear to have a reduced risk of cancer and type 2 diabetes. The Human Phenotype Ontology provides the following list of signs and symptoms for Laron 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) Abnormal facial shape 90% Aplasia/Hypoplasia involving the nose 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% High forehead 90% Microdontia 90% Reduced number of teeth 90% Truncal obesity 90% Abnormality of the elbow 50% Brachydactyly syndrome 50% Hypoglycemia 50% Hypoplasia of penis 50% Short toe 50% Skeletal muscle atrophy 50% Underdeveloped supraorbital ridges 50% Abnormality of lipid metabolism 7.5% Abnormality of the voice 7.5% Blue sclerae 7.5% Cognitive impairment 7.5% Depressed nasal ridge 7.5% Hypertrichosis 7.5% Hypohidrosis 7.5% Osteoarthritis 7.5% Prematurely aged appearance 7.5% Abnormal joint morphology - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Delayed menarche - High pitched voice - Severe short stature - Short long bone - Small face - 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 + Laron syndrome
What causes Laron syndrome ?
What causes Laron syndrome? Laron syndrome is caused by changes (mutations) in the GHR gene. This gene encodes growth hormone receptor, which is a protein found on the outer membrane of cells throughout the body. Growth hormone receptor is designed to recognize and bind growth hormone, which triggers cellular growth and division. When growth hormone is bound to the growth hormone receptors on liver cells, specifically, insulin-like growth factor I (another important growth-promoting hormone) is produced. Mutations in GHR impair the function of growth hormone receptors which interferes with their ability to bind growth hormone. This disrupts normal growth and development of cells and prevents the production of insulin-like growth factor I which causes the many signs and symptoms of Laron syndrome. + GARD + Laron syndrome
Is Laron syndrome inherited ?
Is Laron syndrome inherited? Most cases of Laron syndrome are 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. 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. Reports exist of rare families in which Laron syndrome appears to be inherited in an autosomal dominant manner. In these cases, 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. An affected person has a 50% chance with each pregnancy of passing along the altered gene to his or her child. + GARD + Laron syndrome
How to diagnose Laron syndrome ?
How is Laron syndrome diagnosed? A diagnosis of Laron syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that cause similar features. This generally includes blood tests to measure the levels of certain hormones that are often abnormal in people with Laron syndrome. For example, affected people may have elevated levels of growth hormone and reduced levels of insulin-like growth factor I. Genetic testing for changes (mutations) in the GHR gene can also be used to confirm a diagnosis in some cases. + GARD + Laron syndrome
What are the treatments for Laron syndrome ?
How might Laron syndrome be treated? There is currently no cure for Laron syndrome. Treatment is primarily focused on improving growth. The only specific treatment available for this condition is subcutaneous injections of insulin-like growth factor 1 (a growth-promoting hormone), often called IGF-1. IGF-1 stimulates linear growth (height) and also improves brain growth and metabolic abnormalities caused by long-term IGF-1 deficiency. It has also been shown to raise blood glucose levels, reduce cholesterol, and increase muscle growth. IGF-1 and GH levels should be closely monitored in people undergoing this treatment because overdosage of IGF-I causes a variety of health problems. + GARD + Laron syndrome
What are the symptoms of Osteoporosis-pseudoglioma syndrome ?
What are the signs and symptoms of Osteoporosis-pseudoglioma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis-pseudoglioma 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) Abnormal form of the vertebral bodies 90% Aplasia/Hypoplasia affecting the eye 90% Bowing of the long bones 90% Cataract 90% Delayed skeletal maturation 90% Joint hypermobility 90% Muscular hypotonia 90% Recurrent fractures 90% Reduced bone mineral density 90% Visual impairment 90% Abnormality of the pupil 50% Cognitive impairment 50% Short stature 50% Abnormal hair quantity 7.5% Depressed nasal bridge 7.5% Kyphosis 7.5% Low posterior hairline 7.5% Obesity 7.5% Optic atrophy 7.5% Absent anterior eye chamber - Autosomal recessive inheritance - Barrel-shaped chest - Blindness - Glioma - Intellectual disability, mild - Iris atrophy - Kyphoscoliosis - Metaphyseal widening - Microcephaly - Microphthalmia - Osteoporosis - Pathologic fracture - Phthisis bulbi - Platyspondyly - Ventricular septal defect - Vitreoretinopathy - 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 + Osteoporosis-pseudoglioma syndrome
What are the symptoms of DCMA syndrome ?
What are the signs and symptoms of DCMA syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DCMA 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) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - 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 + DCMA syndrome