bowang0911/MedQuAD huggingface dataset:
How is hypocomplementemic urticarial vasculitis (HUV) diagnosed? What kind of tests are required? A diagnosis of hypocomplementemic urticarial vasculitis (HUV) syndrome is supported by findings from varied tests, such as skin biopsy, blood tests, physical and eye examinations, and urinalysis and kidney imaging studies (when glomerulonephritis is suspected).  People with HUV syndrome have hives (urticaria) for at least six months and low levels of proteins (complement) in the blood. Complement levels can be determined through a blood test. Click here to visit the American Association for Clinical Chemistry's Web site Lab Tests Online to learn more about this test.  In addition to these major criteria, people with HUV syndrome must also have at least two of the following minor criteria: Inflammation in the small veins of the dermis (diagnosed by biopsy) Joint pain or arthritis Mild glomerulonephritis Inflammation in the eye (uvea or episclera) Recurrent abdominal pain The presence of anti-C1q antibodies (this test is not widely available) Some people have urticarial vasculitis and low complement levels (hypocomplementemia), but do not meet diagnostic criteria for HUV syndrome. These individuals may be diagnosed as having HUV (where symptoms are limited to the skin), versus HUV syndrome. Differential diagnoses for HUV syndrome include, Schnitzler's syndrome, Cogan's syndrome, and Muckle-Wells syndrome.
Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. The condition may not be diagnosed until iron accumulation is excessive. Early symptoms may be vague, such as fatigue or weakness. Other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration. Hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection. There is also a neonatal form. Hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance: Hemochromotosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage.
What are the signs and symptoms of Hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis. 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 glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - 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 hemochromatosis? The underlying cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form. Hereditary hemochromatosis is caused by mutations in any of several genes: type 1 hemochromatosis - the HFE gene type 2 hemochromatosis - either the HFE2 or HAMP gene type 3 hemochromatosis - the TFR2 gene type 4 hemochromatosis - the SLC40A1 gene These genes give the body instructions to make proteins that help regulate how iron is absorbed, transported, and stored. Mutations in these genes impair how iron is absorbed during digestion and alter the distribution of iron throughout the body. This causes iron to accumulate in tissues and organs. Acquired hemochromatosis (or secondary hemochromatosis) is usually due to other blood-related disorders, such as thalassemia or certain anemias, or having many blood transfusions. Sometimes it occurs as a result of long-term alcoholism or other health conditions. The cause of neonatal hemochromatosis is not fully understood. However, a woman with an affected child has approximately an 80% chance to have another affected child. This likelihood of recurrence is not explained by normal inheritance patterns. Therefore, this form appears to be familial, but not inherited.
Is hemochromatosis inherited? Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on the type a person has. Types 1, 2, and 3 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier. Type 4 is inherited in an autosomal dominant manner. This means having only one mutated copy of the responsible gene in each cell is enough to cause the condition. When a person with an autosomal dominant condition has children, each child has a 50% chance to inherit the mutated copy of the gene. In most cases, a person with type 4 hemochromatosis has one affected parent. Acquired hemochromatosis is not inherited. Neonatal hemochromatosis is also not inherited, but it does appear to be familial. A woman with an affected child has approximately an 80% chance to have another affected child. However, this likelihood of recurrence is not explained by normal inheritance patterns. The underlying cause of this type is not fully understood.
What are the signs and symptoms of Retinopathy pigmentary mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinopathy pigmentary mental retardation. 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) Arachnodactyly - Autosomal recessive inheritance - Cataract - Hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Joint hypermobility - Microcephaly - Moderately short stature - Myopia - Narrow palm - Pigmentary retinal degeneration - Reduced visual acuity - Retinopathy - Scoliosis - 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.
What are the signs and symptoms of Polyneuropathy mental retardation acromicria premature menopause? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyneuropathy mental retardation acromicria premature menopause. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Brachydactyly syndrome 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Micromelia 90% Secondary amenorrhea 90% Short stature 90% Skeletal muscle atrophy 90% Camptodactyly of finger 50% Truncal obesity 50% Ulnar deviation of finger 50% Abnormality of pelvic girdle bone morphology 7.5% Arrhythmia 7.5% Furrowed tongue 7.5% 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 Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. 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 iris 90% Patellar aplasia 90% Cataract 50% Cryptorchidism 50% Glaucoma 50% Hernia of the abdominal wall 50% Muscular hypotonia 50% Ptosis 50% Aniridia - Aplasia/Hypoplasia of the patella - Autosomal dominant 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.
Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.
What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or legs; slowed and slurred speech; and nystagmus. Although cerebellar disorders usually strike adults in middle age, the age of symptomatic onset varies depending on the underlying cause of the degeneration. Studies have shown that many patients with movement disorders caused by damage to the cerebellum also have psychiatric symptoms. These studies suggest that patients with cerebellar diseases may benefit from screening and treatment of psychiatric disorders.
What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum. Spinocerebellar ataxias, including Friedreich ataxia, are caused by inherited changes (mutations) in many different genes and are characterized by cell death in the cerebellum, brain stem, and spinal cord. Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal proteins. Multiple sclerosis occurs when the insulating membrane (myelin) that wraps around and protects nerve cells (including those of the cerebellum) become damaged. Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.
Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum, brain stem, and spinal cord. Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Other complex conditions such as multiple sclerosis and multisystem atrophy are also associated with cerebellar degeneration. These conditions are likely caused by the interaction of multiple genetic and environmental factors. Although complex conditions are not passed directly from parent to child, reports of familial forms exist. This suggests that a genetic susceptibility to these conditions can run in families. Many causes of cerebellar degeneration are acquired (non-genetic and non-inherited) including strokes, transmissible spongiform encephalopathies, chronic alcohol abuse and paraneoplastic disorders.
How is cerebellar degeneration diagnosed? A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm the diagnosis. However, this is only an option if the disease-causing gene for that particular condition is known. In cerebellar degeneration caused by acquired (non-genetic and non-inherited) conditions or conditions with an unknown genetic cause, imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) may be necessary to establish a diagnosis. A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities found in people with cerebellar degeneration. Is genetic testing available for cerebellar degeneration? Genetic testing is only available for cerebellar degeneration that is caused by an inherited change (mutation) in a disease-causing gene. For example, genetic testing is available for many different genes known to cause spinocerebellar ataxia (SCA) which is one cause of inherited cerebellar degeneration. For more information on genetic testing for SCA, please click here. For many conditions known to cause cerebellar ataxia, the genetic cause is unknown or the condition is acquired (non-genetic and non-inherited). Genetic testing is not an option for people with these conditions.
How might cerebellar degeneration be treated? There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life. In acquired (non-genetic and non-inherited) forms of cerebellar degeneration, some signs and symptoms may be reversible with treatment of the underlying cause. For example, paraneoplastic cerebellar degeneration may improve after successful treatment of the underlying cancer. For alcoholic/nutritional cerebellar degeneration, symptoms are often relieved with discontinuation of alcohol abuse, a normal diet and dietary supplementation with thiamine and other B vitamins.
Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usually similarly affected, but less severely. Other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. Only a few cases have been reported in the literature. This condition is caused by mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion.
What are the signs and symptoms of Brachydactyly type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type B. 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 metacarpal bones 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 7.5% Cutaneous finger syndactyly 5% Abnormality of the foot - Aplasia/Hypoplasia of the distal phalanges of the hand - Autosomal dominant inheritance - Broad thumb - Camptodactyly - Delayed cranial suture closure - Delayed eruption of permanent teeth - Hemivertebrae - Hypoplastic sacrum - Joint contracture of the hand - Micropenis - Short long bone - Short middle phalanx of finger - Syndactyly - Thoracolumbar scoliosis - Type B brachydactyly - Ventricular septal defect - Vertebral fusion - Wide anterior fontanel - 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 Holzgreve syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Holzgreve 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 lungs 90% Cleft palate 90% Hand polydactyly 90% Intrauterine growth retardation 90% Oligohydramnios 90% Renal hypoplasia/aplasia 90% Abnormal vertebral ossification 50% Abnormality of calvarial morphology 50% Abnormality of the mesentery 50% Abnormality of the metacarpal bones 50% Abnormality of the ribs 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the tongue 50% Bifid tongue 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Macrotia 50% Single umbilical artery 50% Webbed neck 50% Autosomal recessive inheritance - Cleft upper lip - Hypoplastic left heart - Renal agenesis - Renal hypoplasia - 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.