bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of N syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for N 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 chromosome stability 90% Acute leukemia 90% Cognitive impairment 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Hypertonia 90% Megalocornea 90% Sensorineural hearing impairment 90% Visual impairment 90% Hearing impairment - Hypospadias - Intellectual disability - Neoplasm - Spasticity - 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.
Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the organs and tissues most commonly affected. Symptom severity can also vary widely. Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy. Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance, while those caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. Treatment varies based on the specific type of condition and the signs and symptoms present in each person.
What are the signs and symptoms of mitochondrial genetic disorders? People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys. Symptom severity can also vary widely. The most common signs and symptoms include: Poor growth Loss of muscle coordination Muscle weakness Seizures Autism Problems with vision and/or hearing Developmental delay Learning disabilities Heart, liver, and/or kidney disease Gastrointestinal disorders Diabetes Increased risk of infection Thyroid and/or adrenal abnormalities Autonomic dysfunction Dementia The United Mitochondrial Disease Foundation's website features a comprehensive list of possible symptoms (click here to see this information) and symptoms categorized by type of mitochondrial genetic disorder (click here to access this page).
What causes mitochondrial genetic disorders? Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria. Most DNA (hereditary material that is passed from parent to child) is packaged within the nucleus of each cell (known as nuclear DNA). However, mitochondria (the structures in each cell that produce energy) contain a small amount of their own DNA, which is known as mitochondrial DNA. When the mitochondria are not working properly, the body does not have enough energy to carry out its normal functions. This can lead to the variety of health problems associated with mitochondrial genetic disorders.
How are mitochondrial genetic disorders diagnosed? Unfortunately, mitochondrial genetic disorders can be difficult to diagnose, and many affected people may never receive a specific diagnosis. They are often suspected in people who have a condition that effects multiple, unrelated systems of the body. In some cases, the pattern of symptoms may be suggestive of a specific mitochondrial condition. If the disease-causing gene(s) associated with the particular condition is known, the diagnosis can then be confirmed with genetic testing. If a mitochondrial genetic disorder is suspected but the signs and symptoms do not suggest a specific diagnosis, a more extensive work-up may be required. In these cases, a physician may start by evaluating the levels of certain substances in a sample of blood or cerebrospinal fluid. Other tests that can support a diagnosis include: Exercise testing Magnetic resonance spectroscopy (detects abnormalities in the brain's chemical makeup) Imaging studies of the brain such as MRI or CT scan Electroencephalography (EEG) Tests that evaluate the heart including electrocardiography and echocardiography Muscle biopsy When possible, confirming a diagnosis with genetic testing can have important implications for family members. Identifying the disease-causing gene(s) will give the family information about the inheritance pattern and the risk to other family members. It will also allow other at-risk family members to undergo genetic testing. For more information regarding the diagnosis of mitochondrial genetic disorders, please visit the United Mitochondrial Disease Foundation's "Getting a Diagnosis" Web page. GeneReviews also provides information on establishing a diagnosis of a mitochondrial disorder. Click on the link to view the article on this topic.
How might mitochondrial genetic disorders be treated? Treatment for mitochondrial genetic disorders varies significantly based on the specific type of condition and the signs and symptoms present in each person. The primary aim of treatment is to alleviate symptoms and slow the progression of the condition. For example, a variety of vitamins and other supplements have been used to treat people affected by mitochondrial conditions with varying degrees of success. Other examples of possible interventions include medications to treat diabetes mellitus, surgery for cataracts, and cochlear implantation for hearing loss. For more general information about the treatment of mitochondrial genetic disorders, please visit GeneReviews.
Bobble-head doll syndrome (BHDS) is a rare neurological condition that is typically first seen in childhood. The signs and symptoms of BHDS include characteristic up and down head movements that increase during walking and excitement and decrease during concentration. Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that also cause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.
What are the signs and symptoms of Epidermolysis bullosa simplex, Ogna type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Ogna 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) Abnormal blistering of the skin 90% Bruising susceptibility 90% Abnormality of the nail 50% Aplasia/Hypoplasia of the skin 50% Hyperkeratosis 50% Autosomal dominant inheritance - Onychogryposis of toenails - Skin fragility with non-scarring blistering - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. 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 dominant inheritance - Verrucae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2G. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of lower limbs - Autosomal recessive inheritance - Calf muscle hypertrophy - Difficulty climbing stairs - Difficulty running - Difficulty walking - Distal lower limb amyotrophy - Distal lower limb muscle weakness - Elevated serum creatine phosphokinase - Foot dorsiflexor weakness - Increased connective tissue - Increased variability in muscle fiber diameter - Muscular dystrophy - Proximal muscle weakness in upper limbs - Proximal upper limb amyotrophy - Rimmed vacuoles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Dandy-Walker malformation with facial hemangioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with facial hemangioma. 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) Cavernous hemangioma 90% Cognitive impairment 90% Dandy-Walker malformation 90% Median cleft lip 90% Microcephaly 90% Seizures 90% 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.
A pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Pineocytomas most often occur in adults as a solid mass, although they may appear to have fluid-filled (cystic) spaces on images of the brain. Signs and symptoms of pineocytomas include headaches, nausea, hydrocephalus, vision abnormalities, and Parinaud syndrome. Pineocytomas are usually slow-growing and rarely spread to other parts of the body. Treatment includes surgery to remove the pineocytoma; most of these tumors do not regrow (recur) after surgery.
How might a pineocytoma be treated? Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors. However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surgery be carefully considered in each person.  Radiation therapy is sometimes used following surgery to destroy any tumor cells that may remain, but the benefit of this additional treatment is questionable.
What are the signs and symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification. 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 - Cerebral berry aneurysm - Cirrhosis - Emphysema - Hepatic failure - Nonarteriosclerotic cerebral calcification - Portal hypertension - Seizures - Short 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.
FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and  BRWD3 (FGS7). FGS is inherited in an X-linked recessive pattern. Individualized early intervention and educational services are important so that each child can reach their fullest potential.
What are the signs and symptoms of Lissencephaly 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebellar hypoplasia - Heterotopia - Hypoplasia of the brainstem - Intellectual disability - Lissencephaly - Muscular hypotonia of the trunk - Pachygyria - Postnatal microcephaly - Seizures - Spastic tetraparesis - Sporadic - Variable expressivity - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Osteoarthropathy of fingers familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoarthropathy of fingers familial. 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% Brachydactyly syndrome 50% Limitation of joint mobility 50% Abnormality of the metaphyses 7.5% Autosomal dominant inheritance - Broad phalanx - Short phalanx of finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. 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 - Chondrosarcoma - 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.
Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf.  Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait.