bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Bethlem myopathy? Bethlem myopathy mainly affects skeletal muscles, the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles. The features of Bethlem myopathy can appear at any age. In some cases, the symptoms start before birth with decreased fetal movements. In others, low muscle tone and a stiff neck develop following birth. During childhood, delayed developmental milestones may be noted, leading to trouble sitting or walking. In some, symptoms don't occur until adulthood. Over time, approximately two-thirds of people with Bethlem myopathy will need to use a walker or wheelchair. In addition to the muscle problems, some people with Bethlem myopathy have skin abnormalities such as small bumps called follicular hyperkeratosis that develop around the elbows and knees; soft, velvety skin on the palms and soles; and wounds that split open with little bleeding and widen over time to create shallow scars. The Human Phenotype Ontology provides the following list of signs and symptoms for Bethlem 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) Camptodactyly of finger 90% Decreased body weight 90% EMG abnormality 90% Limitation of joint mobility 90% Myopathy 90% Abnormality of the cardiovascular system - Ankle contracture - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital muscular torticollis - Decreased fetal movement - Distal muscle weakness - Elbow flexion contracture - Elevated serum creatine phosphokinase - Limb-girdle muscle weakness - Motor delay - Neonatal hypotonia - Proximal muscle weakness - Respiratory insufficiency due to muscle weakness - Slow progression - Torticollis - Variable expressivity - 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 causes Bethlem myopathy? Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle. Type VI collagen makes up part of the extracellular matrix, an intricate lattice that forms in the space between cells and provides structural support to the muscles. Mutations in the type VI collagen genes result in the formation of abnormal type VI collagen or reduced amounts of type VI collagen. This decrease in normal type VI collagen disrupts the extracellullar matrix surrounding muscle cells, leading to progressive muscle weakness and the other signs and symptoms of Bethlem myopathy.
How is Bethlem myopathy inherited? Bethlem myopathy is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. IN some cases, an affected person inherits the mutation from one affected parent. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What are the signs and symptoms of Panhypopituitarism X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Panhypopituitarism X-linked. 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) Panhypopituitarism - Pituitary dwarfism - 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.
What are the signs and symptoms of Dopamine beta hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dopamine beta hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - High palate - Neonatal hypoglycemia - Nocturia - Orthostatic hypotension - Ptosis - Retrograde ejaculation - Seizures - 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.
Mondini dysplasia is a type of inner ear malformation that is present at birth (congenital). Individuals with Mondini dysplasia have one and a half coils of the cochlea instead of the normal two coils. It may occur in one ear (unilateral) or both ears (bilateral) and can cause varying degrees of sensorineural hearing loss, although most individuals have profound hearing loss. The condition can also predispose affected individuals to recurrent meningitis. It is caused by disruption in the embryonic development of the inner ear during the seventh week of gestation. The condition may be isolated (occurring with no other conditions or malformations) or may occur with other ear malformations or a number of syndromes. Treatment options may include surgical repair of the defect to prevent recurrent meningitis; amplification aids for those with residual hearing; and cochlear implantation.
What are the signs and symptoms of Mondini dysplasia? Mondini dysplasia is a congenital malformation (present at birth). It may occur either unilaterally (in one ear) or bilaterally (in both ears). Most affected individuals have profound sensorineural hearing loss, but some individuals do have residual hearing. There have also been reports of affected individuals having normal hearing. Mondini dysplasia can also predispose to recurrent meningitis because the defect can act as a "port of entry" to the fluid that surrounds the brain and spinal cord (cerebrospinal fluid, or CSF). Sometimes, individuals are not diagnosed before several episodes of recurrent meningitis occur. The condition may occur with other abnormalities of the ear or other organs, or it may be isolated. The severity of the physical abnormality does not appear to correlate with the severity of the signs and symptoms in affected individuals.
What causes Mondini dysplasia? The underlying cause of Mondini dysplasia (MD) in most individuals appears to remain unclear. Some have suggested that retinoids (vitamin A) or other factors a fetus may be exposed to early in pregnancy have contributed to some cases of isolated MD (occurring with no other abnormalities). The potential role of these factors has created increased difficulty in determining the real cause of isolated MD. Mutations in the SLC26A4 gene cause both Pendred syndrome and DFNB4 (non-syndromic hearing loss with inner ear abnormalities), which are both associated with MD. Though mutations in the SLC26A4 gene have also been found in individuals with enlarged vestibular aqueduct (EVA) with and without MD, studies have shown there does not appear to be a relationship between isolated MD and the SLC26A4 gene. Thus hearing impairment in individuals with isolated MD may be caused by factors other than mutations in the SLC26A4 gene. More recently, a type of mutation called a microdeletion (a tiny loss of genetic material on a chromosome that may span several genes) involving the POU3F4 gene on the X chromosome was detected in some individuals with familial MD. In cases where Mondini dysplasia is associated with a specific syndrome, the cause of the syndrome in the affected individual is assumed to be related to the occurrence of MD in those cases. Syndromes that have been associated with MD include Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, and some chromosomal trisomies.
Is Mondini dysplasia inherited? Mondini dysplasia usually occurs sporadically as an isolated abnormality (occurring in only one individual in a family with no other abnormalities) but it can be associated with a variety of syndromes including Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, Wildervanck syndrome, Fountain syndrome, Johanson-Blizzard syndrome, and some chromosomal trisomies. These syndromes can be inherited in a variety of ways, but Mondini dysplasia may not occur in each affected individual. It has also has been reported in families with congenital sensorineural hearing loss, both with autosomal dominant and presumed autosomal recessive inheritance. One study described familial nonsyndromic Mondini dysplasia in a mother, son and daughter with presumed autosomal dominant inheritance; another study described familial nonsyndromic Mondini dysplasia in a family in which transmission was most consistent with autosomal recessive inheritance. It has also been suggested that Mondini dysplasia may be associated with substances that may harm a developing fetus when a pregnant woman is exposed (teratogens) such as thalidomide or rubella. Being that Mondini dysplasia has been associated with a variety of conditions, inheritance patterns, and both genetic and non-genetic causes, it appears to be inherited in some cases, with the inheritance pattern being dependent upon the underlying cause of the condition in each individual or family.
Is genetic testing available for Mondini dysplasia? Genetic testing may be available for Mondini dysplasia if it is associated with a specific syndrome for which genetic testing is available, or if a mutation has previously been identified in an affected individual in the family. Unfortunately, for many cases of isolated Mondini dysplasia, there is no clinical genetic testing available. GeneTests lists the names of laboratories that are performing genetic testing for many conditions that may be associated with Mondini dysplasia. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
How might Mondini dysplasia be treated? Surgery to repair the defect present with Mondini dysplasia is typically necessary to prevent recurrent meningitis. Prophylactic antimicrobial therapy (such as antibiotics) to prevent infection and conjugate pneumococcal vaccination are helpful in reducing the formation of bacteria in affected individuals. If an individual has residual hearing, hearing amplification aids may be useful. The use of cochlear implants to treat patients with inner ear malformations such as Mondini dysplasia has been increasingly successful. Various results of cochlear implantation in individuals with Mondini dysplasia have been reported in the literature.
Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly.  Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly when an individual does not eat for a long time.  Symptoms improve significantly as individuals with this condition get older.  Glycogen storage disease type 6 is caused by mutations in the PYGL gene and is inherited in an autosomal recessive manner.
What are the signs and symptoms of Glycogen storage disease type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 6. 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) Hypoglycemia 90% Short stature 90% Autosomal recessive inheritance - Hepatomegaly - Increased hepatic glycogen content - Postnatal growth retardation - 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 Hereditary hemorrhagic telangiectasia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Cyanosis - Dyspnea - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Mesenteric artery aneurysm - Nasal mucosa telangiectasia - Palate telangiectasia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - 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 Holocarboxylase synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Holocarboxylase synthetase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Behavioral abnormality 90% Cheilitis 90% Cognitive impairment 90% Hearing impairment 90% Hypertrichosis 90% Inflammatory abnormality of the eye 90% Muscular hypotonia 90% Nausea and vomiting 90% Reduced consciousness/confusion 90% Seizures 90% Skin rash 90% Weight loss 90% Abnormal pattern of respiration 50% Hyperammonemia 50% Respiratory insufficiency 50% Alopecia 7.5% Dry skin 7.5% Incoordination 7.5% Thrombocytopenia 7.5% Autosomal recessive inheritance - Coma - Feeding difficulties in infancy - Hypertonia - Hyperventilation - Irritability - Lethargy - Metabolic acidosis - Organic aciduria - Tachypnea - Vomiting - 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 Metaphyseal chondrodysplasia Spahr type? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal chondrodysplasia Spahr 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) Abnormality of the hip bone 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu varum 90% Hyperlordosis 90% Reduced bone mineral density 90% Short stature 90% Abnormality of epiphysis morphology 50% Carious teeth 50% Scoliosis 50% Abnormality of the head - Autosomal recessive inheritance - Disproportionate short stature - Genu valgum - Metaphyseal chondrodysplasia - Metaphyseal sclerosis - Metaphyseal widening - Motor delay - Progressive leg bowing - Short lower limbs - Waddling gait - 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.
Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence.
What are the signs and symptoms of Dermatofibrosarcoma protuberans? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatofibrosarcoma protuberans. 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) Neoplasm of the skin 90% Sarcoma 90% Thickened skin 90% Skin ulcer 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.