sarnsrun/medquad huggingface dataset:
Topic: GM1 gangliosidosis
Question: What are the treatments for GM1 gangliosidosis ?
Answer: How might GM1 gangliosidosis be treated? There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. For example, anticonvulsants may initially control seizures. Supportive treatments may include proper nutrition and hydration, and keeping the affected individual's airway open. Bone marrow transplantation was reportedly successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment due to its success in other lysosomal storage disorders. Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials. Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy.
Source: GARD
Topic: Chromosome 3p- syndrome
Question: What is (are) Chromosome 3p- syndrome ?
Answer: Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Chromosome 3p- syndrome
Question: What causes Chromosome 3p- syndrome ?
Answer: What causes chromosome 3p- syndrome? In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent.
Source: GARD
Topic: Chromosome 3p- syndrome
Question: Is Chromosome 3p- syndrome inherited ?
Answer: Is chromosome 3p- syndrome inherited? In most cases, chromosome 3p- syndrome occurs for the first time in the affected person (de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. This means that a person with chromosome 3p- syndrome has a 50% chance with each pregnancy of passing the condition on to his or her child. In theory, it is possible for a parent to not have the deletion in their chromosomes on a blood test, but have the deletion in some of their egg or sperm cells only. This phenomenon is called germline mosaicism. In these rare cases, it would be possible to have another child with the deletion. To our knowledge, this has not been reported with chromosome 3p- syndrome. People interested in learning more about genetic risks to themselves or family members should speak with a genetics professional.
Source: GARD
Topic: Chromosome 3p- syndrome
Question: How to diagnose Chromosome 3p- syndrome ?
Answer: How is chromosome 3p- syndrome diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 3p- syndrome. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a duplication of a specific region of 3p. Array CGH - a technology that detects deletions that are too small to be seen on karyotype.
Source: GARD
Topic: Chromosome 3p- syndrome
Question: What are the treatments for Chromosome 3p- syndrome ?
Answer: How might chromosome 3p- syndrome be treated? Because chromosome 3p- syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, children with delayed motor milestones (i.e. walking) and/or muscle problems may be referred for physical or occupational therapy. Severe feeding difficulties may be treated temporarily with a nasogastric tube or a gastrostomy tube to ensure that a baby or child gets enough nutrients. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Surgery may be required to treat certain physical abnormalities such as cleft palate or congenital heart defects, if present. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Source: GARD
Topic: 1q21.1 microdeletion syndrome
Question: What is (are) 1q21.1 microdeletion syndrome ?
Answer: 1q21.1 microdeletion syndrome is a newly described chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). It has been described in 46 patients to date. Some people with this deletion have no observable features; while others have variable features that can include small head, developmental delay (speech and motor delays), mild intellectual disability, distinctive facial features, and eye abnormalities. Other findings can include seizures as well as abnormalities of the heart, skeleton, and urinary system. Psychiatric and behavioral features can include autism spectrum disorders, schizophrenia, attention deficit hyperactivity disorder and sleep disorders. This syndrome is caused by a deletion in a specific region of 1q21.1, which is distinct from the deletion region that causes TAR syndrome.
Source: GARD
Topic: 1q21.1 microdeletion syndrome
Question: What are the symptoms of 1q21.1 microdeletion syndrome ?
Answer: What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion 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 nasal morphology 50% Abnormality of the palate 50% Cognitive impairment 50% Deeply set eye 50% Epicanthus 50% Frontal bossing 50% Long philtrum 50% Microcephaly 50% Short stature 50% Abnormality of the aorta 7.5% Abnormality of the cardiac septa 7.5% Abnormality of thumb phalanx 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Brachydactyly syndrome 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Hypermetropia 7.5% Intrauterine growth retardation 7.5% Iris coloboma 7.5% Joint hypermobility 7.5% Muscular hypotonia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Scoliosis 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short foot 7.5% Sleep disturbance 7.5% Strabismus 7.5% Talipes 7.5% Toe syndactyly 7.5% Vesicoureteral reflux 7.5% Autosomal dominant inheritance - Broad hallux - Broad thumb - Bulbous nose - Coarctation of aorta - Incomplete penetrance - Intellectual disability - Schizophrenia - Transposition of the great arteries - Truncus arteriosus - 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.
Source: GARD
Topic: Lymphedema and cerebral arteriovenous anomaly
Question: What are the symptoms of Lymphedema and cerebral arteriovenous anomaly ?
Answer: What are the signs and symptoms of Lymphedema and cerebral arteriovenous anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema and cerebral arteriovenous anomaly. 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 cerebral vasculature 90% Lymphedema 90% Autosomal dominant inheritance - Pulmonary hypertension - 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.
Source: GARD
Topic: Neuropathy, hereditary motor and sensory, Okinawa type
Question: What are the symptoms of Neuropathy, hereditary motor and sensory, Okinawa type ?
Answer: What are the signs and symptoms of Neuropathy, hereditary motor and sensory, Okinawa type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, hereditary motor and sensory, Okinawa 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) Hand tremor 5% Adult onset - Autosomal dominant inheritance - Decreased number of peripheral myelinated nerve fibers - Degeneration of anterior horn cells - Distal sensory impairment - Fasciculations - Gait disturbance - Gliosis - Hyperlipidemia - Mildly elevated creatine phosphokinase - Peripheral neuropathy - Proximal amyotrophy - Proximal muscle weakness - Slow progression - Tetraplegia - 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.
Source: GARD
Topic: Conotruncal heart malformations
Question: What are the symptoms of Conotruncal heart malformations ?
Answer: What are the signs and symptoms of Conotruncal heart malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Conotruncal heart malformations. 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) Tetralogy of Fallot 90% Transposition of the great arteries 90% Abnormality of the aorta 50% Abnormality of the pulmonary artery 50% Patent ductus arteriosus 50% Hypertelorism 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Broad hallux - Coarctation of aorta - Complete atrioventricular canal defect - Double outlet right ventricle - Postaxial polydactyly - Truncus arteriosus - 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.
Source: GARD
Topic: Long QT syndrome 8
Question: What is (are) Long QT syndrome 8 ?
Answer: Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the hearts ability to pump blood effectively. Other symptoms of Timothy syndrome include fusion of the skin between fingers or toes and distinctive facial features. In addition, many children with this syndrome have developmental delay and characteristic features of autism. Mental retardation and seizures can also occur in children with Timothy syndrome. There are two forms of Timothy syndrome. Type 1 includes all of the characteristic features described. Type 2 causes a more severe form of long QT syndrome and does not appear to cause fusion of skin between fingers or toes. All cases of Timothy syndrome appear to be due to changes in the CACNA1C gene. This syndrome is inherited in an autosomal dominant manner. However, most cases are not inherited from an affected parent, but occur for the first time in a family due to a spontaneous or random change in the CACNA1C gene.
Source: GARD
Topic: Long QT syndrome 8
Question: What are the symptoms of Long QT syndrome 8 ?
Answer: What are the signs and symptoms of Long QT syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 8. 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) Prolonged QT interval - Sudden death - Syndactyly - 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.
Source: GARD
Topic: Histidinuria renal tubular defect
Question: What are the symptoms of Histidinuria renal tubular defect ?
Answer: What are the signs and symptoms of Histidinuria renal tubular defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinuria renal tubular defect. 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) Aminoaciduria 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hypoglycemia 90% Hypoplastic toenails 90% Long philtrum 90% Macrotia 90% Sensorineural hearing impairment 90% Ventriculomegaly 90% Wide nasal bridge 90% Autosomal recessive inheritance - Generalized myoclonic seizures - Histidinuria - Impaired histidine renal tubular absorption - Intellectual disability - Rounded middle phalanx of finger - Short middle phalanx of finger - Smooth philtrum - 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.
Source: GARD
Topic: Camptodactyly syndrome Guadalajara type 3
Question: What are the symptoms of Camptodactyly syndrome Guadalajara type 3 ?
Answer: What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara 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) Abnormality of the pinna - Absent phalangeal crease - Autosomal dominant inheritance - Camptodactyly - Delayed skeletal maturation - Flat face - Hypertelorism - Intellectual disability, mild - Joint contracture of the hand - Malar flattening - Micropenis - Muscular hypotonia - Nevus - Retrognathia - Short neck - Small hypothenar eminence - Small thenar eminence - Spina bifida occulta - Telecanthus - Torticollis - Webbed neck - 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.
Source: GARD
Topic: MORM syndrome
Question: What are the symptoms of MORM syndrome ?
Answer: What are the signs and symptoms of MORM syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for MORM 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) Autosomal recessive inheritance - Cataract - Childhood-onset truncal obesity - Delayed speech and language development - Intellectual disability, moderate - Micropenis - Retinal dystrophy - Truncal obesity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Thyroglossal tract cyst
Question: What is (are) Thyroglossal tract cyst ?
Answer: A thyroglossal duct cyst is a neck mass or lump that develops from cells and tissues remaining after the formation of the thyroid gland during embryonic development.
Source: GARD
Topic: Thyroglossal tract cyst
Question: What causes Thyroglossal tract cyst ?
Answer: Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Some patients with an infected cyst experience drainage which can result in a foul taste in the mouth. These symptoms may make feedings difficult and unpleasant. We recommend you speak with your childs healthcare provider regarding his symptom.
Source: GARD