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What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? assistant Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. |
What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. 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 hair quantity 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Delayed skeletal maturation 90% Fine hair 90% Hypohidrosis 90% Hypothyroidism 90% Recurrent respiratory infections 90% Short stature 90% Lacrimation abnormality 50% Melanocytic nevus 50% Abnormal respiratory motile cilium morphology - Abnormality of skin pigmentation - Autosomal recessive inheritance - Ciliary dyskinesia - Hypohidrotic ectodermal dysplasia - Nail dysplasia - Primary hypothyroidism - Recurrent infections - Sparse eyebrow - Sparse scalp hair - Urticaria - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? assistant What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. 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 hair quantity 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Delayed skeletal maturation 90% Fine hair 90% Hypohidrosis 90% Hypothyroidism 90% Recurrent respiratory infections 90% Short stature 90% Lacrimation abnormality 50% Melanocytic nevus 50% Abnormal respiratory motile cilium morphology - Abnormality of skin pigmentation - Autosomal recessive inheritance - Ciliary dyskinesia - Hypohidrotic ectodermal dysplasia - Nail dysplasia - Primary hypothyroidism - Recurrent infections - Sparse eyebrow - Sparse scalp hair - Urticaria - 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 is (are) Biotin-thiamine-responsive basal ganglia disease ? | Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Biotin-thiamine-responsive basal ganglia disease ? assistant Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms. |
What are the symptoms of Biotin-thiamine-responsive basal ganglia disease ? | What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia disease. 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 basal ganglia - Autosomal recessive inheritance - Babinski sign - Coma - Confusion - Craniofacial dystonia - Dysarthria - Dysphagia - Encephalopathy - External ophthalmoplegia - Fever - Gait ataxia - Inability to walk - Irritability - Juvenile onset - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Mutism - Nystagmus - Paraparesis - Ptosis - Rigidity - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Biotin-thiamine-responsive basal ganglia disease ? assistant What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia disease. 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 basal ganglia - Autosomal recessive inheritance - Babinski sign - Coma - Confusion - Craniofacial dystonia - Dysarthria - Dysphagia - Encephalopathy - External ophthalmoplegia - Fever - Gait ataxia - Inability to walk - Irritability - Juvenile onset - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Mutism - Nystagmus - Paraparesis - Ptosis - Rigidity - 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. |
What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. CANDLE syndrome is often caused by changes (mutations) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? assistant Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. CANDLE syndrome is often caused by changes (mutations) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person. |
What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. 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 temperature regulation 90% Arthralgia 90% Hepatomegaly 90% Hyperostosis 90% Limitation of joint mobility 90% Lipoatrophy 90% Skin rash 90% Splenomegaly 90% Clubbing of toes 50% Hyperhidrosis 50% Increased antibody level in blood 50% Lymphadenopathy 50% Muscle weakness 50% Skeletal muscle atrophy 50% Abnormal nasal morphology 7.5% Abnormal pyramidal signs 7.5% Abnormality of the tongue 7.5% Arachnodactyly 7.5% Arrhythmia 7.5% Cardiomegaly 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Macrotia 7.5% Microcytic anemia 7.5% Respiratory insufficiency 7.5% Thick lower lip vermilion 7.5% Seizures 5% Short stature 5% Adipose tissue loss - Autosomal recessive inheritance - Basal ganglia calcification - Bone pain - Camptodactyly of finger - Clubbing of fingers - Conjunctivitis - Elbow flexion contracture - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Episcleritis - Erythema - Failure to thrive - Flexion contracture of toe - Hyperpigmentation of the skin - Hypertriglyceridemia - Intellectual disability, mild - Large eyes - Lipodystrophy - Long fingers - Macroglossia - Osteopenia - Panniculitis - Prominent nose - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? assistant What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. 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 temperature regulation 90% Arthralgia 90% Hepatomegaly 90% Hyperostosis 90% Limitation of joint mobility 90% Lipoatrophy 90% Skin rash 90% Splenomegaly 90% Clubbing of toes 50% Hyperhidrosis 50% Increased antibody level in blood 50% Lymphadenopathy 50% Muscle weakness 50% Skeletal muscle atrophy 50% Abnormal nasal morphology 7.5% Abnormal pyramidal signs 7.5% Abnormality of the tongue 7.5% Arachnodactyly 7.5% Arrhythmia 7.5% Cardiomegaly 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Macrotia 7.5% Microcytic anemia 7.5% Respiratory insufficiency 7.5% Thick lower lip vermilion 7.5% Seizures 5% Short stature 5% Adipose tissue loss - Autosomal recessive inheritance - Basal ganglia calcification - Bone pain - Camptodactyly of finger - Clubbing of fingers - Conjunctivitis - Elbow flexion contracture - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Episcleritis - Erythema - Failure to thrive - Flexion contracture of toe - Hyperpigmentation of the skin - Hypertriglyceridemia - Intellectual disability, mild - Large eyes - Lipodystrophy - Long fingers - Macroglossia - Osteopenia - Panniculitis - Prominent nose - 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 is (are) Mnire's disease ? | Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop attacks, also called spells of Tumarkin. The disorder usually affects only one ear and is a common cause of hearing loss. Some people develop symptoms in both ears many years after their initial diagnosis. The exact cause of Mnire's disease is unknown, but the symptoms are thought to be associated with a change in fluid volume within a portion of the inner ear known as the labyrinth. Treatment may include medications or surgery depending on the severity of the condition. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Mnire's disease ? assistant Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop attacks, also called spells of Tumarkin. The disorder usually affects only one ear and is a common cause of hearing loss. Some people develop symptoms in both ears many years after their initial diagnosis. The exact cause of Mnire's disease is unknown, but the symptoms are thought to be associated with a change in fluid volume within a portion of the inner ear known as the labyrinth. Treatment may include medications or surgery depending on the severity of the condition. |
What are the symptoms of Mnire's disease ? | What are the signs and symptoms of Mnire's disease? The symptoms of Mnire's disease typically occur suddenly and can arise daily, or as infrequently as once a year. Vertigo, often the most debilitating symptom of Mnire's disease, typically involves a whirling dizziness that forces the affected person to lie down. Vertigo attacks can lead to severe nausea, vomiting, and sweating, and often come with little or no warning. Some people with Mnire's disease have attacks that start with tinnitus (ear noises), a loss of hearing, or a full feeling or pressure in the affected ear. It is important to remember that all of these symptoms are unpredictable. Typically, the attack is characterized by a combination of vertigo, tinnitus, and hearing loss lasting several hours. People experience these discomforts at varying frequencies, durations, and intensities. Some may feel slight vertigo a few times a year. Others may be occasionally disturbed by intense, uncontrollable tinnitus while sleeping. Affected people may also notice hearing loss or feel unsteady for prolonged periods. Other occasional symptoms of Mnire's disease may include headaches, abdominal discomfort, and diarrhea. A person's hearing tends to recover between attacks but over time may become worse. Meniere's disease usually starts in one ear but it may extend to involve both ears over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Mnire's disease. 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 - Hearing impairment - Tinnitus - Vertigo - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Mnire's disease ? assistant What are the signs and symptoms of Mnire's disease? The symptoms of Mnire's disease typically occur suddenly and can arise daily, or as infrequently as once a year. Vertigo, often the most debilitating symptom of Mnire's disease, typically involves a whirling dizziness that forces the affected person to lie down. Vertigo attacks can lead to severe nausea, vomiting, and sweating, and often come with little or no warning. Some people with Mnire's disease have attacks that start with tinnitus (ear noises), a loss of hearing, or a full feeling or pressure in the affected ear. It is important to remember that all of these symptoms are unpredictable. Typically, the attack is characterized by a combination of vertigo, tinnitus, and hearing loss lasting several hours. People experience these discomforts at varying frequencies, durations, and intensities. Some may feel slight vertigo a few times a year. Others may be occasionally disturbed by intense, uncontrollable tinnitus while sleeping. Affected people may also notice hearing loss or feel unsteady for prolonged periods. Other occasional symptoms of Mnire's disease may include headaches, abdominal discomfort, and diarrhea. A person's hearing tends to recover between attacks but over time may become worse. Meniere's disease usually starts in one ear but it may extend to involve both ears over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Mnire's disease. 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 - Hearing impairment - Tinnitus - Vertigo - 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 Mnire's disease ? | What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditary predisposition; syphilis; allergies; abnormal immune system responses; migraines; and noise pollution. The symptoms of Mnire's disease are thought to relate to changes in fluid volume in the inner ear, which contains structures necessary for normal hearing and balance. Changes in fluid volume may disrupt signals sent from the inner ear to the brain, or may lead to tears or ruptures of the structures that affect hearing and balance. More detailed information about the causes of symptoms associated with Mnire's disease is available on NIDCD's Web site. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Mnire's disease ? assistant What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditary predisposition; syphilis; allergies; abnormal immune system responses; migraines; and noise pollution. The symptoms of Mnire's disease are thought to relate to changes in fluid volume in the inner ear, which contains structures necessary for normal hearing and balance. Changes in fluid volume may disrupt signals sent from the inner ear to the brain, or may lead to tears or ruptures of the structures that affect hearing and balance. More detailed information about the causes of symptoms associated with Mnire's disease is available on NIDCD's Web site. |
How to diagnose Mnire's disease ? | How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms. Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imaging (MRI). Accurate measurement and characterization of hearing loss are of critical importance in the diagnosis of Mnire's disease. Through the use of several types of hearing tests, physicians can characterize hearing loss as being sensory (arising from the inner ear) or neural (arising from the hearing nerve). Recording the auditory brain stem response, which measures electrical activity in the hearing nerve and brain stem, is useful in differentiating between these two types of hearing loss. Electrocochleography, recording the electrical activity of the inner ear in response to sound, helps confirm the diagnosis. To test the vestibular or balance system, physicians irrigate the ears with warm and cool water or air. This procedure, known as caloric testing, results in nystagmus, rapid eye movements that can help a physician analyze a balance disorder. Since tumor growth can produce symptoms similar to Mnire's disease, an MRI is a useful test to determine whether a tumor is causing the patient's vertigo and hearing loss. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Mnire's disease ? assistant How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms. Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imaging (MRI). Accurate measurement and characterization of hearing loss are of critical importance in the diagnosis of Mnire's disease. Through the use of several types of hearing tests, physicians can characterize hearing loss as being sensory (arising from the inner ear) or neural (arising from the hearing nerve). Recording the auditory brain stem response, which measures electrical activity in the hearing nerve and brain stem, is useful in differentiating between these two types of hearing loss. Electrocochleography, recording the electrical activity of the inner ear in response to sound, helps confirm the diagnosis. To test the vestibular or balance system, physicians irrigate the ears with warm and cool water or air. This procedure, known as caloric testing, results in nystagmus, rapid eye movements that can help a physician analyze a balance disorder. Since tumor growth can produce symptoms similar to Mnire's disease, an MRI is a useful test to determine whether a tumor is causing the patient's vertigo and hearing loss. |
What are the treatments for Mnire's disease ? | How might Mnire's disease be treated? At the present time there is no cure for Mnire's disease, but there are several safe and effective medical and surgical therapies that are available to help individuals cope with the symptoms. The symptoms of the disease are often controlled successfully by reducing the bodys retention of fluids through dietary changes (such as a low-salt or salt-free diet and no caffeine or alcohol). Medications such as antihistamines, anticholinergics, and diuretics may lower endolymphatic pressure by reducing the amount of endolymphatic fluid. Eliminating tobacco use and reducing stress levels may also help lessen the severity of symptoms. Symptoms such as dizziness, vertigo, and associated nausea and vomiting may respond to sedative/hypnotics, benzodiazepines like diazepam and anti-emetics. Different surgical procedures are an option for individuals with persistent, debilitating vertigo. Labyrinthectomy (removal of the inner ear sense organ) can effectively control vertigo, but sacrifices hearing and is reserved for patients with nonfunctional hearing in the affected ear. Vestibular neurectomy, selectively severing a nerve from the affected inner ear organ, usually controls the vertigo while preserving hearing but carries surgical risks. Recently, the administration of the ototoxic antibiotic gentamycin directly into the middle ear space has gained popularity worldwide for the control of vertigo associated with Mnire's disease. An article published in the journal Lancet in August 2008, written by Sajjadi and Paparella, reviews treatment options and strategies for individuals with Mnire's disease. Click here to view the abstract of this article. To obtain the complete article, the NLM Web site has a page for locating libraries in your area that can provide direct access to journals (print or online) or where you can get articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). Click on NLM Web site to access this page or go to the following link: http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Mnire's disease ? assistant How might Mnire's disease be treated? At the present time there is no cure for Mnire's disease, but there are several safe and effective medical and surgical therapies that are available to help individuals cope with the symptoms. The symptoms of the disease are often controlled successfully by reducing the bodys retention of fluids through dietary changes (such as a low-salt or salt-free diet and no caffeine or alcohol). Medications such as antihistamines, anticholinergics, and diuretics may lower endolymphatic pressure by reducing the amount of endolymphatic fluid. Eliminating tobacco use and reducing stress levels may also help lessen the severity of symptoms. Symptoms such as dizziness, vertigo, and associated nausea and vomiting may respond to sedative/hypnotics, benzodiazepines like diazepam and anti-emetics. Different surgical procedures are an option for individuals with persistent, debilitating vertigo. Labyrinthectomy (removal of the inner ear sense organ) can effectively control vertigo, but sacrifices hearing and is reserved for patients with nonfunctional hearing in the affected ear. Vestibular neurectomy, selectively severing a nerve from the affected inner ear organ, usually controls the vertigo while preserving hearing but carries surgical risks. Recently, the administration of the ototoxic antibiotic gentamycin directly into the middle ear space has gained popularity worldwide for the control of vertigo associated with Mnire's disease. An article published in the journal Lancet in August 2008, written by Sajjadi and Paparella, reviews treatment options and strategies for individuals with Mnire's disease. Click here to view the abstract of this article. To obtain the complete article, the NLM Web site has a page for locating libraries in your area that can provide direct access to journals (print or online) or where you can get articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). Click on NLM Web site to access this page or go to the following link: http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area. |
What is (are) Eosinophilic fasciitis ? | Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of this condition is unknown. Corticosteroids and other immune-suppressing medications are used to relieve the symptoms. Eosinophilic fasciitis is similar in appearance to scleroderma but is not related. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Eosinophilic fasciitis ? assistant Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of this condition is unknown. Corticosteroids and other immune-suppressing medications are used to relieve the symptoms. Eosinophilic fasciitis is similar in appearance to scleroderma but is not related. |
What are the symptoms of Eosinophilic fasciitis ? | What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. 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) Acrocyanosis 90% Cellulitis 90% Hypermelanotic macule 90% Muscular edema 90% Myalgia 90% Arthralgia 50% Arthritis 50% Myositis 7.5% Paresthesia 7.5% Weight loss 7.5% Autosomal recessive inheritance - Eosinophilic fasciitis - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Eosinophilic fasciitis ? assistant What are the signs and symptoms of Eosinophilic fasciitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Eosinophilic fasciitis. 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) Acrocyanosis 90% Cellulitis 90% Hypermelanotic macule 90% Muscular edema 90% Myalgia 90% Arthralgia 50% Arthritis 50% Myositis 7.5% Paresthesia 7.5% Weight loss 7.5% Autosomal recessive inheritance - Eosinophilic fasciitis - 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 treatments for Eosinophilic fasciitis ? | How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocorticoids are successful in treating eosionophilic fasciitis in over 70% of cases. If glucocorticoids are unsuccessful, methotrexate at low doses (1525 mg once weekly) is probably the most favored second-line treatment, especially in people with reddish to purpleish (morphea-like) skin lesions. Other treatment options include NSAIDs, D-penicillamine, chloroquine, cimetidine, azathioprine, cyclosporin A, infliximab, UVA-1, and bath PUVA. Physical therapy may help improve joint mobility and decrease contractures. Surgical release has been used in some severe cases to manage significant joint contractures. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Eosinophilic fasciitis ? assistant How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocorticoids are successful in treating eosionophilic fasciitis in over 70% of cases. If glucocorticoids are unsuccessful, methotrexate at low doses (1525 mg once weekly) is probably the most favored second-line treatment, especially in people with reddish to purpleish (morphea-like) skin lesions. Other treatment options include NSAIDs, D-penicillamine, chloroquine, cimetidine, azathioprine, cyclosporin A, infliximab, UVA-1, and bath PUVA. Physical therapy may help improve joint mobility and decrease contractures. Surgical release has been used in some severe cases to manage significant joint contractures. |
What are the symptoms of Madokoro Ohdo Sonoda syndrome ? | What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda 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 metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Madokoro Ohdo Sonoda syndrome ? assistant What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda 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 metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - 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 is (are) Myotonia congenita autosomal dominant ? | Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene. However, the conditions have different modes of inheritance. The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Myotonia congenita autosomal dominant ? assistant Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene. However, the conditions have different modes of inheritance. The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner. |
What are the symptoms of Myotonia congenita autosomal dominant ? | What are the signs and symptoms of Myotonia congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. 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) EMG abnormality 90% Myotonia 90% Muscle weakness 75% Myalgia 5% Myotonia with warm-up phenomenon 27/27 Percussion myotonia 26/27 Muscle stiffness 25/27 Skeletal muscle hypertrophy 7/9 Myalgia 11/27 Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Dysphagia - EMG: myotonic runs - Handgrip myotonia - Muscle hypertrophy of the lower extremities - Phenotypic variability - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Myotonia congenita autosomal dominant ? assistant What are the signs and symptoms of Myotonia congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. 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) EMG abnormality 90% Myotonia 90% Muscle weakness 75% Myalgia 5% Myotonia with warm-up phenomenon 27/27 Percussion myotonia 26/27 Muscle stiffness 25/27 Skeletal muscle hypertrophy 7/9 Myalgia 11/27 Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Dysphagia - EMG: myotonic runs - Handgrip myotonia - Muscle hypertrophy of the lower extremities - Phenotypic variability - 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 is (are) Progressive pseudorheumatoid arthropathy of childhood ? | Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda Autosomal dominant spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda Toledo type | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Progressive pseudorheumatoid arthropathy of childhood ? assistant Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda Autosomal dominant spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda Toledo type |
What are the symptoms of Progressive pseudorheumatoid arthropathy of childhood ? | What are the signs and symptoms of Progressive pseudorheumatoid arthropathy of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive pseudorheumatoid arthropathy of childhood. 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% Limitation of joint mobility 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the knees 50% Kyphosis 50% Osteoarthritis 50% Scoliosis 50% Abnormality of the foot - Arthropathy - Autosomal recessive inheritance - Camptodactyly of finger - Coxa vara - Decreased cervical spine mobility - Difficulty walking - Enlarged epiphyses - Enlarged interphalangeal joints - Enlarged metacarpophalangeal joints - Enlargement of the proximal femoral epiphysis - Flattened epiphysis - Genu varum - Joint stiffness - Joint swelling - Kyphoscoliosis - Metaphyseal widening - Muscle weakness - Osteoporosis - Platyspondyly - Sclerotic vertebral endplates - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Progressive pseudorheumatoid arthropathy of childhood ? assistant What are the signs and symptoms of Progressive pseudorheumatoid arthropathy of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive pseudorheumatoid arthropathy of childhood. 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% Limitation of joint mobility 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the knees 50% Kyphosis 50% Osteoarthritis 50% Scoliosis 50% Abnormality of the foot - Arthropathy - Autosomal recessive inheritance - Camptodactyly of finger - Coxa vara - Decreased cervical spine mobility - Difficulty walking - Enlarged epiphyses - Enlarged interphalangeal joints - Enlarged metacarpophalangeal joints - Enlargement of the proximal femoral epiphysis - Flattened epiphysis - Genu varum - Joint stiffness - Joint swelling - Kyphoscoliosis - Metaphyseal widening - Muscle weakness - Osteoporosis - Platyspondyly - Sclerotic vertebral endplates - 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. |
What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ? | What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. 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) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ? assistant What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. 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) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - 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 symptoms of Conductive deafness with malformed external ear ? | What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. 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) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7.5% Hernia of the abdominal wall 7.5% Preauricular skin tag 7.5% Sensorineural hearing impairment 7.5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Conductive deafness with malformed external ear ? assistant What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. 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) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7.5% Hernia of the abdominal wall 7.5% Preauricular skin tag 7.5% Sensorineural hearing impairment 7.5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - 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 is (are) Chromosome 8p deletion ? | Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Chromosome 8p deletion ? assistant Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. |
What are the symptoms of Monomelic amyotrophy ? | What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. 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 upper limb 90% Asymmetric growth 90% EMG abnormality 90% Acrocyanosis 50% Decreased nerve conduction velocity 50% Abnormality of the immune system 7.5% Involuntary movements 7.5% Tremor 7.5% EMG: neuropathic changes - Fasciculations - Insidious onset - Interosseus muscle atrophy - Sporadic - Upper limb muscle weakness - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Monomelic amyotrophy ? assistant What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. 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 upper limb 90% Asymmetric growth 90% EMG abnormality 90% Acrocyanosis 50% Decreased nerve conduction velocity 50% Abnormality of the immune system 7.5% Involuntary movements 7.5% Tremor 7.5% EMG: neuropathic changes - Fasciculations - Insidious onset - Interosseus muscle atrophy - Sporadic - Upper limb muscle weakness - 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 symptoms of Palant cleft palate syndrome ? | What are the signs and symptoms of Palant cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palant cleft palate 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 - Bulbous nose - Cleft palate - Contracture of the proximal interphalangeal joint of the 4th finger - Contracture of the proximal interphalangeal joint of the 5th finger - Exaggerated cupid's bow - Intellectual disability, progressive - Intellectual disability, severe - Motor delay - Short stature - Upslanted palpebral fissure - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Palant cleft palate syndrome ? assistant What are the signs and symptoms of Palant cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palant cleft palate 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 - Bulbous nose - Cleft palate - Contracture of the proximal interphalangeal joint of the 4th finger - Contracture of the proximal interphalangeal joint of the 5th finger - Exaggerated cupid's bow - Intellectual disability, progressive - Intellectual disability, severe - Motor delay - Short stature - Upslanted palpebral fissure - 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 symptoms of Optic atrophy polyneuropathy deafness ? | What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. 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 - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Optic atrophy polyneuropathy deafness ? assistant What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. 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 - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - 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 symptoms of Corneal dystrophy Thiel Behnke type ? | What are the signs and symptoms of Corneal dystrophy Thiel Behnke type? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy Thiel Behnke 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) Autosomal dominant inheritance - Corneal dystrophy - Corneal scarring - Juvenile epithelial corneal dystrophy - Photophobia - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Corneal dystrophy Thiel Behnke type ? assistant What are the signs and symptoms of Corneal dystrophy Thiel Behnke type? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy Thiel Behnke 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) Autosomal dominant inheritance - Corneal dystrophy - Corneal scarring - Juvenile epithelial corneal dystrophy - Photophobia - 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 symptoms of Mutiple parosteal osteochondromatous proliferations ? | What are the signs and symptoms of Mutiple parosteal osteochondromatous proliferations? The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. 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 wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Mutiple parosteal osteochondromatous proliferations ? assistant What are the signs and symptoms of Mutiple parosteal osteochondromatous proliferations? The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. 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 wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - 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 symptoms of Ectodermal dysplasia mental retardation syndactyly ? | What are the signs and symptoms of Ectodermal dysplasia mental retardation syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia mental retardation syndactyly. 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) 2-3 toe syndactyly - 3-4 finger syndactyly - Abnormal facial shape - Abnormality of the ear - Aplasia cutis congenita of scalp - Aqueductal stenosis - Autosomal recessive inheritance - Dental crowding - Dry skin - Ectodermal dysplasia - Headache - Hypohidrosis - Intellectual disability - Long palpebral fissure - Onychogryposis of toenails - Open mouth - Shovel-shaped maxillary central incisors - Sparse eyebrow - Sporadic - Subcapsular cataract - Ventriculomegaly - Wide nasal bridge - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ectodermal dysplasia mental retardation syndactyly ? assistant What are the signs and symptoms of Ectodermal dysplasia mental retardation syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia mental retardation syndactyly. 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) 2-3 toe syndactyly - 3-4 finger syndactyly - Abnormal facial shape - Abnormality of the ear - Aplasia cutis congenita of scalp - Aqueductal stenosis - Autosomal recessive inheritance - Dental crowding - Dry skin - Ectodermal dysplasia - Headache - Hypohidrosis - Intellectual disability - Long palpebral fissure - Onychogryposis of toenails - Open mouth - Shovel-shaped maxillary central incisors - Sparse eyebrow - Sporadic - Subcapsular cataract - Ventriculomegaly - Wide nasal bridge - 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 is (are) Pityriasis lichenoides chronica ? | Pityriasis lichenoides chronica is the mild, chronic form of pityriasis lichenoides, a skin disorder of unknown cause. This condition is characterized by the gradual development of symptomless, small, scaling papules that spontaneously flatten and regress over a period of weeks or months. Lesions at various stages may be present at any one time. Patients with this condition often have exacerbations and relapses of the condition, which can last for months or years. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pityriasis lichenoides chronica ? assistant Pityriasis lichenoides chronica is the mild, chronic form of pityriasis lichenoides, a skin disorder of unknown cause. This condition is characterized by the gradual development of symptomless, small, scaling papules that spontaneously flatten and regress over a period of weeks or months. Lesions at various stages may be present at any one time. Patients with this condition often have exacerbations and relapses of the condition, which can last for months or years. |
What are the symptoms of Pityriasis lichenoides chronica ? | What are the symptoms of pityriasis lichenoides chronica? Pityriasis lichenoides chronica usually starts out as a small pink papule that turns a reddish-brown color. There is usually a fine, mica-like adherent scale attached to the center which can be peeled off to reveal a shiny, pinkish brown surface. Over several weeks, the spot flattens out spontaneously and leaves behind a brown mark, which fades over several months. Pityriasis lichenoides chronica most commonly occurs over the trunk, buttocks, arms and legs, but may also occur on the hands, feet, face and scalp. Unlike the acute type of pityriasis lichenoides, lesions associated with pityriasis lichenoides chronica are not painful, itchy or irritating. What symptoms are associated with pityriasis lichenoides chronica (PLC)? PLC is the milder form of pityriasis lichenoides, and the lesions associated with this form consist of small, firm, red-brown spots. Unlike PLEVA, the lesions are not irritating and have mica-like adherent scale, which can be scraped off to reveal a shiny brown surface. The spot flattens out over several weeks to leave a brown mark which fades over several months. PLC can look like psoriasis, lichen planus, or insect bites. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pityriasis lichenoides chronica ? assistant What are the symptoms of pityriasis lichenoides chronica? Pityriasis lichenoides chronica usually starts out as a small pink papule that turns a reddish-brown color. There is usually a fine, mica-like adherent scale attached to the center which can be peeled off to reveal a shiny, pinkish brown surface. Over several weeks, the spot flattens out spontaneously and leaves behind a brown mark, which fades over several months. Pityriasis lichenoides chronica most commonly occurs over the trunk, buttocks, arms and legs, but may also occur on the hands, feet, face and scalp. Unlike the acute type of pityriasis lichenoides, lesions associated with pityriasis lichenoides chronica are not painful, itchy or irritating. What symptoms are associated with pityriasis lichenoides chronica (PLC)? PLC is the milder form of pityriasis lichenoides, and the lesions associated with this form consist of small, firm, red-brown spots. Unlike PLEVA, the lesions are not irritating and have mica-like adherent scale, which can be scraped off to reveal a shiny brown surface. The spot flattens out over several weeks to leave a brown mark which fades over several months. PLC can look like psoriasis, lichen planus, or insect bites. |
How to diagnose Pityriasis lichenoides chronica ? | How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is most often involved in the diagnosis and care of patients with this condition. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Pityriasis lichenoides chronica ? assistant How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is most often involved in the diagnosis and care of patients with this condition. |
What are the treatments for Pityriasis lichenoides chronica ? | How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different therapies available. First-line therapies may include: Sun exposure Topical steroids Topical immunomodulators such as tacrolimus or pimecrolimus Oral antibiotics such as erythromycin and tetracycline Second-line therapies may include: Phototherapy artificial ultraviolet radiation treatment with UVB or PUVA Third-line therapies may include: Systemic steroids Methotrexate Acitretin Dapsone Ciclosporin For more resistant and severe disease, a combination of the above may be used PubMed, a searchable database of medical literature, lists several journal articles that discuss treatment of pityriasis lichenoides chronica. Click on the link to view abstracts of articles related to this topic. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Pityriasis lichenoides chronica ? assistant How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different therapies available. First-line therapies may include: Sun exposure Topical steroids Topical immunomodulators such as tacrolimus or pimecrolimus Oral antibiotics such as erythromycin and tetracycline Second-line therapies may include: Phototherapy artificial ultraviolet radiation treatment with UVB or PUVA Third-line therapies may include: Systemic steroids Methotrexate Acitretin Dapsone Ciclosporin For more resistant and severe disease, a combination of the above may be used PubMed, a searchable database of medical literature, lists several journal articles that discuss treatment of pityriasis lichenoides chronica. Click on the link to view abstracts of articles related to this topic. |
What is (are) Osteogenesis imperfecta type VI ? | Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Osteogenesis imperfecta type VI ? assistant Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern. |
What are the symptoms of Osteogenesis imperfecta type VI ? | What are the signs and symptoms of Osteogenesis imperfecta type VI? Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology). People with this condition have bones that are thin (osteopenia) and break easily beginning after 6 months of age. A defect in how the bone uses minerals to build and strengthen bone (mineralization) causes a distinct "fish-scale" pattern. Unlike other types of osteogenesis imperfecta, the whites of the eyes (sclerae) and teeth do not appear to be affected. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VI. 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 - Beaking of vertebral bodies - Biconcave vertebral bodies - Coxa vara - Increased susceptibility to fractures - Ligamentous laxity - Protrusio acetabuli - Vertebral compression fractures - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Osteogenesis imperfecta type VI ? assistant What are the signs and symptoms of Osteogenesis imperfecta type VI? Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology). People with this condition have bones that are thin (osteopenia) and break easily beginning after 6 months of age. A defect in how the bone uses minerals to build and strengthen bone (mineralization) causes a distinct "fish-scale" pattern. Unlike other types of osteogenesis imperfecta, the whites of the eyes (sclerae) and teeth do not appear to be affected. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VI. 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 - Beaking of vertebral bodies - Biconcave vertebral bodies - Coxa vara - Increased susceptibility to fractures - Ligamentous laxity - Protrusio acetabuli - Vertebral compression fractures - 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. |
Is Osteogenesis imperfecta type VI inherited ? | How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier. The children of an individual with an autosomal recessive type of OI are always carriers for a disease-causing mutation. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Osteogenesis imperfecta type VI inherited ? assistant How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier. The children of an individual with an autosomal recessive type of OI are always carriers for a disease-causing mutation. |
How to diagnose Osteogenesis imperfecta type VI ? | Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative. GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on "Testing" next to the type of OI in which you are interested. 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 genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Osteogenesis imperfecta type VI ? assistant Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known. Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative. GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on "Testing" next to the type of OI in which you are interested. 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 genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members. |
What are the symptoms of Autosomal recessive spastic ataxia 4 ? | What are the signs and symptoms of Autosomal recessive spastic ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive spastic ataxia 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) Emotional lability 5% Autosomal recessive inheritance - Babinski sign - Delayed speech and language development - Dysarthria - Hyporeflexia - Nystagmus - Optic atrophy - Slow progression - Spastic ataxia - Spastic paraparesis - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Autosomal recessive spastic ataxia 4 ? assistant What are the signs and symptoms of Autosomal recessive spastic ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive spastic ataxia 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) Emotional lability 5% Autosomal recessive inheritance - Babinski sign - Delayed speech and language development - Dysarthria - Hyporeflexia - Nystagmus - Optic atrophy - Slow progression - Spastic ataxia - Spastic paraparesis - 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 symptoms of Fountain syndrome ? | What are the signs and symptoms of Fountain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fountain 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) Brachydactyly syndrome 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Edema 90% Round face 90% Sensorineural hearing impairment 90% Thick lower lip vermilion 90% EEG abnormality 50% Full cheeks 50% Hyperextensible skin 50% Malar flattening 50% Wide mouth 50% Abnormality of the metacarpal bones 7.5% Abnormality of the metaphyses 7.5% Abnormality of the palate 7.5% Clubbing of toes 7.5% Cutis marmorata 7.5% Gingival overgrowth 7.5% Kyphosis 7.5% Large hands 7.5% Macrocephaly 7.5% Neurological speech impairment 7.5% Scoliosis 7.5% Seizures 7.5% Short stature 7.5% Spina bifida occulta 7.5% Thick eyebrow 7.5% Autosomal recessive inheritance - Broad palm - Facial edema - Intellectual disability - Thickened calvaria - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Fountain syndrome ? assistant What are the signs and symptoms of Fountain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fountain 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) Brachydactyly syndrome 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Edema 90% Round face 90% Sensorineural hearing impairment 90% Thick lower lip vermilion 90% EEG abnormality 50% Full cheeks 50% Hyperextensible skin 50% Malar flattening 50% Wide mouth 50% Abnormality of the metacarpal bones 7.5% Abnormality of the metaphyses 7.5% Abnormality of the palate 7.5% Clubbing of toes 7.5% Cutis marmorata 7.5% Gingival overgrowth 7.5% Kyphosis 7.5% Large hands 7.5% Macrocephaly 7.5% Neurological speech impairment 7.5% Scoliosis 7.5% Seizures 7.5% Short stature 7.5% Spina bifida occulta 7.5% Thick eyebrow 7.5% Autosomal recessive inheritance - Broad palm - Facial edema - Intellectual disability - Thickened calvaria - 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 is (are) Mitochondrial genetic disorders ? | 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Mitochondrial genetic disorders ? assistant 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 symptoms of Mitochondrial genetic disorders ? | 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). | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Mitochondrial genetic disorders ? assistant 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 ? | 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Mitochondrial genetic disorders ? assistant 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. |
Is Mitochondrial genetic disorders inherited ? | Are mitochondrial genetic disorders inherited? Mitochondrial genetic disorder can be inherited in a variety of manners depending on the type of condition and the location of the disease-causing change (mutation). Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance. Only egg cells (not sperm cells) contribute mitochondria to the next generation, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mitochondrial DNA can appear in every generation of a family and can affect both males and females. In some cases, the condition results from a new (de novo) mutation in a mitochondrial gene and occurs in a person with no history of the condition in the family. Mitochondrial genetic disorders caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. In autosomal dominant conditions, one mutated copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with an autosomal dominant condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Mitochondrial genetic disorders inherited ? assistant Are mitochondrial genetic disorders inherited? Mitochondrial genetic disorder can be inherited in a variety of manners depending on the type of condition and the location of the disease-causing change (mutation). Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance. Only egg cells (not sperm cells) contribute mitochondria to the next generation, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mitochondrial DNA can appear in every generation of a family and can affect both males and females. In some cases, the condition results from a new (de novo) mutation in a mitochondrial gene and occurs in a person with no history of the condition in the family. Mitochondrial genetic disorders caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. In autosomal dominant conditions, one mutated copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with an autosomal dominant condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons. |
How to diagnose 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Mitochondrial genetic disorders ? assistant 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. |
What are the treatments for Mitochondrial genetic disorders ? | 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Mitochondrial genetic disorders ? assistant 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. |
What is (are) Neonatal progeroid syndrome ? | Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Neonatal progeroid syndrome ? assistant Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive. |
What are the symptoms of Neonatal progeroid syndrome ? | What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive Feeding difficulties Distinctive craniofacial features such as a triangular face; large skull with wide anterior (front) fontanelle; small, underdeveloped facial bones; natal teeth; low-set, posteriorly (towards the back) rotated ears, ectropion; and/or unusually sparse scalp hair, eyebrows, and eyelashes Thin arms and legs with disproportionately large hands and feet Small fingers and toes with underdeveloped nails Osteopenia (low bone density) Horizontal nystagmus Developmental delay Mild to severe intellectual disability The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal progeroid 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 hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Aplasia/Hypoplasia of the eyebrow 90% Arachnodactyly 90% Cognitive impairment 90% Delayed skeletal maturation 90% Frontal bossing 90% Hearing impairment 90% High forehead 90% Intrauterine growth retardation 90% Laryngomalacia 90% Lipoatrophy 90% Macrocephaly 90% Narrow mouth 90% Short stature 90% Thin skin 90% Triangular face 90% Advanced eruption of teeth 50% Cerebral cortical atrophy 50% Convex nasal ridge 50% Cryptorchidism 50% Ventriculomegaly 50% Abnormality of chromosome stability 7.5% Limitation of joint mobility 7.5% Long penis 7.5% Flexion contracture 5% Hypertriglyceridemia 5% Hypospadias 5% Abnormality of cardiovascular system morphology - Absence of subcutaneous fat - Aplasia/Hypoplasia of the earlobes - Autosomal recessive inheritance - Blue sclerae - Congenital onset - Decreased subcutaneous fat - Delayed closure of the anterior fontanelle - Dysphagia - Ectropion - Entropion - Failure to thrive - Feeding difficulties - Gynecomastia - Hypertelorism - Hypoplastic ilia - Hypotrichosis - Increased serum testosterone level - Intellectual disability - Intention tremor - Large hands - Long fingers - Long foot - Long toe - Low-set ears - Malar flattening - Muscular hypotonia - Narrow nasal ridge - Natal tooth - Nystagmus - Parietal bossing - Prominent scalp veins - Recurrent respiratory infections - Short femur - Short humerus - Small nail - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Sudanophilic leukodystrophy - Thin ribs - Truncal ataxia - Upslanted palpebral fissure - Widely patent fontanelles and sutures - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Neonatal progeroid syndrome ? assistant What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive Feeding difficulties Distinctive craniofacial features such as a triangular face; large skull with wide anterior (front) fontanelle; small, underdeveloped facial bones; natal teeth; low-set, posteriorly (towards the back) rotated ears, ectropion; and/or unusually sparse scalp hair, eyebrows, and eyelashes Thin arms and legs with disproportionately large hands and feet Small fingers and toes with underdeveloped nails Osteopenia (low bone density) Horizontal nystagmus Developmental delay Mild to severe intellectual disability The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal progeroid 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 hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Aplasia/Hypoplasia of the eyebrow 90% Arachnodactyly 90% Cognitive impairment 90% Delayed skeletal maturation 90% Frontal bossing 90% Hearing impairment 90% High forehead 90% Intrauterine growth retardation 90% Laryngomalacia 90% Lipoatrophy 90% Macrocephaly 90% Narrow mouth 90% Short stature 90% Thin skin 90% Triangular face 90% Advanced eruption of teeth 50% Cerebral cortical atrophy 50% Convex nasal ridge 50% Cryptorchidism 50% Ventriculomegaly 50% Abnormality of chromosome stability 7.5% Limitation of joint mobility 7.5% Long penis 7.5% Flexion contracture 5% Hypertriglyceridemia 5% Hypospadias 5% Abnormality of cardiovascular system morphology - Absence of subcutaneous fat - Aplasia/Hypoplasia of the earlobes - Autosomal recessive inheritance - Blue sclerae - Congenital onset - Decreased subcutaneous fat - Delayed closure of the anterior fontanelle - Dysphagia - Ectropion - Entropion - Failure to thrive - Feeding difficulties - Gynecomastia - Hypertelorism - Hypoplastic ilia - Hypotrichosis - Increased serum testosterone level - Intellectual disability - Intention tremor - Large hands - Long fingers - Long foot - Long toe - Low-set ears - Malar flattening - Muscular hypotonia - Narrow nasal ridge - Natal tooth - Nystagmus - Parietal bossing - Prominent scalp veins - Recurrent respiratory infections - Short femur - Short humerus - Small nail - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Sudanophilic leukodystrophy - Thin ribs - Truncal ataxia - Upslanted palpebral fissure - Widely patent fontanelles and sutures - 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 Neonatal progeroid syndrome ? | What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Neonatal progeroid syndrome ? assistant What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified. |
Is Neonatal progeroid syndrome inherited ? | Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Neonatal progeroid syndrome inherited ? assistant Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. |
How to diagnose Neonatal progeroid syndrome ? | How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Neonatal progeroid syndrome ? assistant How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth. |
What are the treatments for Neonatal progeroid syndrome ? | How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding tube may be recommended in infants with feeding difficulties who have trouble putting on weight. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Neonatal progeroid syndrome ? assistant How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding tube may be recommended in infants with feeding difficulties who have trouble putting on weight. |
What is (are) Hypophosphatasia ? | Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hypophosphatasia ? assistant Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA. |
What are the symptoms of Hypophosphatasia ? | What are the signs and symptoms of Hypophosphatasia? The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. Additional complications in infancy include poor feeding and a failure to gain weight, respiratory problems, and high levels of calcium in the blood (hypercalcemia), which can lead to recurrent vomiting and kidney problems. These complications are life-threatening in some cases. The forms of hypophosphatasia that appear in childhood or adulthood are typically less severe than those that appear in infancy. Early loss of primary (baby) teeth is one of the first signs of the condition in children. Affected children may have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation. The mildest form of this condition, called odontohypophosphatasia, only affects the teeth. People with this disorder typically experience abnormal tooth development and premature tooth loss, but do not have the skeletal abnormalities seen in other forms of hypophosphatasia. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypophosphatasia. 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 metaphyses 90% Abnormality of the ribs 90% Abnormality of the teeth 90% Bowing of the long bones 90% Craniosynostosis 90% Emphysema 90% Narrow chest 90% Sacrococcygeal pilonidal abnormality 90% Short stature 90% Anemia 50% Behavioral abnormality 50% Hypercalcemia 50% Muscular hypotonia 50% Recurrent fractures 50% Respiratory insufficiency 50% Seizures 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hypophosphatasia ? assistant What are the signs and symptoms of Hypophosphatasia? The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. Additional complications in infancy include poor feeding and a failure to gain weight, respiratory problems, and high levels of calcium in the blood (hypercalcemia), which can lead to recurrent vomiting and kidney problems. These complications are life-threatening in some cases. The forms of hypophosphatasia that appear in childhood or adulthood are typically less severe than those that appear in infancy. Early loss of primary (baby) teeth is one of the first signs of the condition in children. Affected children may have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation. The mildest form of this condition, called odontohypophosphatasia, only affects the teeth. People with this disorder typically experience abnormal tooth development and premature tooth loss, but do not have the skeletal abnormalities seen in other forms of hypophosphatasia. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypophosphatasia. 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 metaphyses 90% Abnormality of the ribs 90% Abnormality of the teeth 90% Bowing of the long bones 90% Craniosynostosis 90% Emphysema 90% Narrow chest 90% Sacrococcygeal pilonidal abnormality 90% Short stature 90% Anemia 50% Behavioral abnormality 50% Hypercalcemia 50% Muscular hypotonia 50% Recurrent fractures 50% Respiratory insufficiency 50% Seizures 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. |
What causes Hypophosphatasia ? | What causes hypophosphatasia? Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzyme, thus affecting the mineralization process. A shortage of the enzyme also causes other substances to build up in the body. These abnormalities lead to the features of HPP. ALPL mutations that almost completely eliminate alkaline phosphatase activity generally cause the more severe forms of HPP, while mutations that reduce activity to a lesser extent often cause the milder forms of HPP. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Hypophosphatasia ? assistant What causes hypophosphatasia? Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzyme, thus affecting the mineralization process. A shortage of the enzyme also causes other substances to build up in the body. These abnormalities lead to the features of HPP. ALPL mutations that almost completely eliminate alkaline phosphatase activity generally cause the more severe forms of HPP, while mutations that reduce activity to a lesser extent often cause the milder forms of HPP. |
Is Hypophosphatasia inherited ? | How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) 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 (ALPL) 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 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. The milder forms, especially adult HPP and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner - depending on the effect the ALPL mutation has on enzyme activity. In autosomal dominant inheritance, having a mutation in only one copy of the ALPL gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant HPP has children, each child has a 50% (1 in 2) chance to inherit that mutation. Most people with autosomal dominant HPP have inherited the mutation from a parent who may or may not have symptoms. Not all people with a mutation that causes autosomal dominant HPP develop symptoms of the condition. While it is possible to have autosomal dominant HPP due to a new mutation that was not inherited (a de novo mutation), this has never been reported in HPP. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Hypophosphatasia inherited ? assistant How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) 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 (ALPL) 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 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. The milder forms, especially adult HPP and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner - depending on the effect the ALPL mutation has on enzyme activity. In autosomal dominant inheritance, having a mutation in only one copy of the ALPL gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant HPP has children, each child has a 50% (1 in 2) chance to inherit that mutation. Most people with autosomal dominant HPP have inherited the mutation from a parent who may or may not have symptoms. Not all people with a mutation that causes autosomal dominant HPP develop symptoms of the condition. While it is possible to have autosomal dominant HPP due to a new mutation that was not inherited (a de novo mutation), this has never been reported in HPP. |
What are the treatments for Hypophosphatasia ? | How might hypophosphatasia be treated? Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infants, some of which need a tracheostomy, which can lead to problems with speech and language development and tolerance of oral feeds Physiotherapy, occupational therapy and chronic pain management for pain and motor difficulty Surgery for fractures that fail to heal More recently, research has shown positive effects of human recombinant enzyme replacement therapy (ERT), called asfotase alfa, on people who began having symptoms before 6 months of age. There reportedly have been significant improvements in the X-ray appearances of bone tissue, along with improvements in growth, respiratory function, motor development and calcium homeostasis after 612 months of treatment. The children in the original study have now received more than three years of treatment, without apparent major side effects, and with continuing improvement in affected systems. Asfotase alfa appears to be a valuable emerging therapy for the treatment of bone manifestations in people with pediatric-onset HPP. In October of 2015 the FDA approved asfotase alfa, sold as Strensiq. Bone marrow and stem cell transplantation in infancy and childhood have improved the severity of the disease, but have not provided long term improvement. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Hypophosphatasia ? assistant How might hypophosphatasia be treated? Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infants, some of which need a tracheostomy, which can lead to problems with speech and language development and tolerance of oral feeds Physiotherapy, occupational therapy and chronic pain management for pain and motor difficulty Surgery for fractures that fail to heal More recently, research has shown positive effects of human recombinant enzyme replacement therapy (ERT), called asfotase alfa, on people who began having symptoms before 6 months of age. There reportedly have been significant improvements in the X-ray appearances of bone tissue, along with improvements in growth, respiratory function, motor development and calcium homeostasis after 612 months of treatment. The children in the original study have now received more than three years of treatment, without apparent major side effects, and with continuing improvement in affected systems. Asfotase alfa appears to be a valuable emerging therapy for the treatment of bone manifestations in people with pediatric-onset HPP. In October of 2015 the FDA approved asfotase alfa, sold as Strensiq. Bone marrow and stem cell transplantation in infancy and childhood have improved the severity of the disease, but have not provided long term improvement. |
What are the symptoms of Kapur Toriello syndrome ? | What are the signs and symptoms of Kapur Toriello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kapur Toriello 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 90% Aplasia/Hypoplasia affecting the eye 90% Chorioretinal coloboma 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Oral cleft 90% Abnormality of female external genitalia 50% Constipation 50% Hypoplasia of penis 50% Intestinal malrotation 50% Short neck 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atresia of the external auditory canal 7.5% Patent ductus arteriosus 7.5% Preauricular skin tag 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Abnormality of the urinary system - Atria septal defect - Autosomal recessive inheritance - Bilateral single transverse palmar creases - Bulbous nose - Camptodactyly of finger - Cataract - Cleft palate - Cleft upper lip - Clinodactyly of the 5th toe - Conductive hearing impairment - Cryptorchidism - Hypoplastic labia majora - Intellectual disability, progressive - Intellectual disability, severe - Intrauterine growth retardation - Iridoretinal coloboma - Joint contracture of the hand - Low hanging columella - Low posterior hairline - Low-set ears - Micropenis - Microphthalmia - Overlapping fingers - Pachygyria - Polymicrogyria - Scoliosis - Seizures - Short thumb - Single transverse palmar crease - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Kapur Toriello syndrome ? assistant What are the signs and symptoms of Kapur Toriello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kapur Toriello 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 90% Aplasia/Hypoplasia affecting the eye 90% Chorioretinal coloboma 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Oral cleft 90% Abnormality of female external genitalia 50% Constipation 50% Hypoplasia of penis 50% Intestinal malrotation 50% Short neck 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atresia of the external auditory canal 7.5% Patent ductus arteriosus 7.5% Preauricular skin tag 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Abnormality of the urinary system - Atria septal defect - Autosomal recessive inheritance - Bilateral single transverse palmar creases - Bulbous nose - Camptodactyly of finger - Cataract - Cleft palate - Cleft upper lip - Clinodactyly of the 5th toe - Conductive hearing impairment - Cryptorchidism - Hypoplastic labia majora - Intellectual disability, progressive - Intellectual disability, severe - Intrauterine growth retardation - Iridoretinal coloboma - Joint contracture of the hand - Low hanging columella - Low posterior hairline - Low-set ears - Micropenis - Microphthalmia - Overlapping fingers - Pachygyria - Polymicrogyria - Scoliosis - Seizures - Short thumb - Single transverse palmar crease - 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 symptoms of Spinal muscular atrophy with respiratory distress 1 ? | What are the signs and symptoms of Spinal muscular atrophy with respiratory distress 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy with respiratory distress 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) Autosomal recessive inheritance - Camptodactyly of finger - Constipation - Decreased fetal movement - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Denervation of the diaphragm - Diaphragmatic eventration - Diaphragmatic paralysis - Distal amyotrophy - Distal muscle weakness - EMG: neuropathic changes - Failure to thrive - Hyperhidrosis - Hyporeflexia - Inspiratory stridor - Intrauterine growth retardation - Limb muscle weakness - Peripheral axonal degeneration - Premature birth - Respiratory failure - Small for gestational age - Spinal muscular atrophy - Tachypnea - Talipes equinovarus - Urinary incontinence - Ventilator dependence with inability to wean - Weak cry - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spinal muscular atrophy with respiratory distress 1 ? assistant What are the signs and symptoms of Spinal muscular atrophy with respiratory distress 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy with respiratory distress 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) Autosomal recessive inheritance - Camptodactyly of finger - Constipation - Decreased fetal movement - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Denervation of the diaphragm - Diaphragmatic eventration - Diaphragmatic paralysis - Distal amyotrophy - Distal muscle weakness - EMG: neuropathic changes - Failure to thrive - Hyperhidrosis - Hyporeflexia - Inspiratory stridor - Intrauterine growth retardation - Limb muscle weakness - Peripheral axonal degeneration - Premature birth - Respiratory failure - Small for gestational age - Spinal muscular atrophy - Tachypnea - Talipes equinovarus - Urinary incontinence - Ventilator dependence with inability to wean - Weak cry - 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 is (are) Glutaric acidemia type II ? | Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Glutaric acidemia type II ? assistant Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet. |
What are the symptoms of Glutaric acidemia type II ? | What are the signs and symptoms of Glutaric acidemia type II? Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body. The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. Some affected individuals have a characteristic odor resembling sweaty feet. Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of the genital system - Abnormality of the pinna - Autosomal recessive inheritance - Congenital cataract - Defective dehydrogenation of isovaleryl CoA and butyryl CoA - Depressed nasal bridge - Electron transfer flavoprotein-ubiquinone oxidoreductase defect - Ethylmalonic aciduria - Generalized aminoaciduria - Gliosis - Glutaric acidemia - Glutaric aciduria - Glycosuria - Hepatic periportal necrosis - Hepatic steatosis - Hepatomegaly - High forehead - Hypoglycemia - Hypoglycemic coma - Jaundice - Macrocephaly - Muscle weakness - Muscular hypotonia - Nausea - Neonatal death - Pachygyria - Polycystic kidney dysplasia - Proximal tubulopathy - Pulmonary hypoplasia - Renal cortical cysts - Respiratory distress - Telecanthus - Vomiting - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Glutaric acidemia type II ? assistant What are the signs and symptoms of Glutaric acidemia type II? Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body. The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. Some affected individuals have a characteristic odor resembling sweaty feet. Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of the genital system - Abnormality of the pinna - Autosomal recessive inheritance - Congenital cataract - Defective dehydrogenation of isovaleryl CoA and butyryl CoA - Depressed nasal bridge - Electron transfer flavoprotein-ubiquinone oxidoreductase defect - Ethylmalonic aciduria - Generalized aminoaciduria - Gliosis - Glutaric acidemia - Glutaric aciduria - Glycosuria - Hepatic periportal necrosis - Hepatic steatosis - Hepatomegaly - High forehead - Hypoglycemia - Hypoglycemic coma - Jaundice - Macrocephaly - Muscle weakness - Muscular hypotonia - Nausea - Neonatal death - Pachygyria - Polycystic kidney dysplasia - Proximal tubulopathy - Pulmonary hypoplasia - Renal cortical cysts - Respiratory distress - Telecanthus - Vomiting - 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 treatments for Glutaric acidemia type II ? | How might glutaric acidemia type II be treated? The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may develop life-long learning problems. Individuals with glutaric acidemia type II should consult with a metabolic doctor and a dietician who can help to develop an appropriate dietary plan. Some treatments may be recommended for some children but not for others. When necessary, treatment should be continued throughout the lifetime. The following treatments are often recommended: -Avoidance of fasting. Infants and young children with glutaric acidemia type II should eat frequent meals in order to prevent hypoglycemia and metabolic crises. -A low-fat, low-protein, high-carbohydrate diet may be advised. -Riboflavin, L-carnitine and glycine supplements may be needed. These supplements help the body create energy. -Alert the child's doctor if they should become ill, as illness can trigger a metabolic crisis. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Glutaric acidemia type II ? assistant How might glutaric acidemia type II be treated? The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may develop life-long learning problems. Individuals with glutaric acidemia type II should consult with a metabolic doctor and a dietician who can help to develop an appropriate dietary plan. Some treatments may be recommended for some children but not for others. When necessary, treatment should be continued throughout the lifetime. The following treatments are often recommended: -Avoidance of fasting. Infants and young children with glutaric acidemia type II should eat frequent meals in order to prevent hypoglycemia and metabolic crises. -A low-fat, low-protein, high-carbohydrate diet may be advised. -Riboflavin, L-carnitine and glycine supplements may be needed. These supplements help the body create energy. -Alert the child's doctor if they should become ill, as illness can trigger a metabolic crisis. |
What is (are) Neurofibromatosis type 1 ? | Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly from person to person. NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner. In approximately 50% of cases, the condition is inherited from an affected parent. Other cases may result from new (de novo) mutations in the gene which occur in people with no history of the condition in their family. Treatment is based on the signs and symptoms present in each person. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Neurofibromatosis type 1 ? assistant Neurofibromatosis type 1 (NF1) is a rare, inherited condition that is characterized primarily by changes in skin coloring and the development of multiple benign tumors along the nerves of the skin, brain, and other parts of the body. The severity of the condition and the associated signs and symptoms vary significantly from person to person. NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner. In approximately 50% of cases, the condition is inherited from an affected parent. Other cases may result from new (de novo) mutations in the gene which occur in people with no history of the condition in their family. Treatment is based on the signs and symptoms present in each person. |
What are the symptoms of Neurofibromatosis type 1 ? | What are the signs and symptoms of Neurofibromatosis type 1? People affected by neurofibromatosis type 1 (NF1) have an increased risk of developing many different types of tumors (both cancerous and noncancerous). Almost all people with NF1 have neurofibromas, which are benign tumors that can affect nearly any nerve in the body. Most will develop these tumors on or just underneath the skin; however, neurofibromas can also grow in other places in the body and may even affect multiple nerves. Malignant peripheral nerve sheath tumors, which also grow along the nerves throughout the body, are the most common cancerous tumor found in people with NF1 and occur in approximately 10% of affected people. In children with NF1, the most common tumors are optic glioma (tumors that grow along the nerve leading from the eye to the brain) and brain tumors. Optic gliomas associated with NF1 are often asymptomatic although they can lead to vision loss. Other features of NF1 may include: Caf au lait spots (flat patches on the skin that are darker than the surrounding area) Freckling, especially in the underarm and groin Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision) Learning disabilities Seizures Autism spectrum disorder High blood pressure Short stature An unusually large head (macrocephaly) Skeletal abnormalities such as scoliosis GeneReview's Web site offers more specific information about the features of NF1. Please click on the link to access this resource. The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis type 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) Cafe-au-lait spot 100% Lisch nodules 95% Benign neoplasm of the central nervous system 90% Generalized hyperpigmentation 90% Hypermelanotic macule 90% Kyphosis 90% Melanocytic nevus 90% Multiple lipomas 90% Neoplasm of the skin 90% Attention deficit hyperactivity disorder 50% Freckling 50% Hearing impairment 50% Heterochromia iridis 50% Incoordination 50% Memory impairment 50% Migraine 50% Neurological speech impairment 50% Paresthesia 50% Proptosis 50% Skeletal dysplasia 50% Slender long bone 50% Short stature 31% Plexiform neurofibroma 30% Specific learning disability 30% Abnormality of the respiratory system 7.5% Arterial stenosis 7.5% Glaucoma 7.5% Hydrocephalus 7.5% Hypertension 7.5% Hypopigmented skin patches 7.5% Leukemia 7.5% Limitation of joint mobility 7.5% Macrocephaly 7.5% Neoplasm of the gastrointestinal tract 7.5% Neuroendocrine neoplasm 7.5% Precocious puberty 7.5% Sarcoma 7.5% Scoliosis 7.5% Seizures 7.5% Tall stature 7.5% Urinary tract neoplasm 7.5% Visual impairment 7.5% Tibial pseudoarthrosis 4% Aqueductal stenosis 1.5% Genu valgum 1.5% Hypsarrhythmia 1.5% Optic glioma 1.5% Renal artery stenosis 1.5% Spinal neurofibromas 1.5% Meningioma 1% Pheochromocytoma 1% Astrocytoma - Autosomal dominant inheritance - Axillary freckling - Hypertelorism - Inguinal freckling - Intellectual disability, mild - Neurofibrosarcoma - Overgrowth - Parathyroid adenoma - Rhabdomyosarcoma - Spina bifida - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Neurofibromatosis type 1 ? assistant What are the signs and symptoms of Neurofibromatosis type 1? People affected by neurofibromatosis type 1 (NF1) have an increased risk of developing many different types of tumors (both cancerous and noncancerous). Almost all people with NF1 have neurofibromas, which are benign tumors that can affect nearly any nerve in the body. Most will develop these tumors on or just underneath the skin; however, neurofibromas can also grow in other places in the body and may even affect multiple nerves. Malignant peripheral nerve sheath tumors, which also grow along the nerves throughout the body, are the most common cancerous tumor found in people with NF1 and occur in approximately 10% of affected people. In children with NF1, the most common tumors are optic glioma (tumors that grow along the nerve leading from the eye to the brain) and brain tumors. Optic gliomas associated with NF1 are often asymptomatic although they can lead to vision loss. Other features of NF1 may include: Caf au lait spots (flat patches on the skin that are darker than the surrounding area) Freckling, especially in the underarm and groin Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision) Learning disabilities Seizures Autism spectrum disorder High blood pressure Short stature An unusually large head (macrocephaly) Skeletal abnormalities such as scoliosis GeneReview's Web site offers more specific information about the features of NF1. Please click on the link to access this resource. The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis type 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) Cafe-au-lait spot 100% Lisch nodules 95% Benign neoplasm of the central nervous system 90% Generalized hyperpigmentation 90% Hypermelanotic macule 90% Kyphosis 90% Melanocytic nevus 90% Multiple lipomas 90% Neoplasm of the skin 90% Attention deficit hyperactivity disorder 50% Freckling 50% Hearing impairment 50% Heterochromia iridis 50% Incoordination 50% Memory impairment 50% Migraine 50% Neurological speech impairment 50% Paresthesia 50% Proptosis 50% Skeletal dysplasia 50% Slender long bone 50% Short stature 31% Plexiform neurofibroma 30% Specific learning disability 30% Abnormality of the respiratory system 7.5% Arterial stenosis 7.5% Glaucoma 7.5% Hydrocephalus 7.5% Hypertension 7.5% Hypopigmented skin patches 7.5% Leukemia 7.5% Limitation of joint mobility 7.5% Macrocephaly 7.5% Neoplasm of the gastrointestinal tract 7.5% Neuroendocrine neoplasm 7.5% Precocious puberty 7.5% Sarcoma 7.5% Scoliosis 7.5% Seizures 7.5% Tall stature 7.5% Urinary tract neoplasm 7.5% Visual impairment 7.5% Tibial pseudoarthrosis 4% Aqueductal stenosis 1.5% Genu valgum 1.5% Hypsarrhythmia 1.5% Optic glioma 1.5% Renal artery stenosis 1.5% Spinal neurofibromas 1.5% Meningioma 1% Pheochromocytoma 1% Astrocytoma - Autosomal dominant inheritance - Axillary freckling - Hypertelorism - Inguinal freckling - Intellectual disability, mild - Neurofibrosarcoma - Overgrowth - Parathyroid adenoma - Rhabdomyosarcoma - Spina bifida - 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 Neurofibromatosis type 1 ? | What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 1. People with neurofibromatosis type 1 are typically born with one mutated copy of the NF1 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF1 gene must be altered. The mutation in the second copy of the NF1 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Neurofibromatosis type 1 ? assistant What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 1. People with neurofibromatosis type 1 are typically born with one mutated copy of the NF1 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF1 gene must be altered. The mutation in the second copy of the NF1 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1. |
Is Neurofibromatosis type 1 inherited ? | How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with NF1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: Is Neurofibromatosis type 1 inherited ? assistant How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with NF1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child. |
How to diagnose Neurofibromatosis type 1 ? | Is genetic testing available for neurofibromatosis type 1? Although it is usually not necessary for diagnosis, genetic testing is available for NF1, the gene known to cause neurofibromatosis type 1. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is neurofibromatosis type 1 diagnosed? The diagnosis of neurofibromatosis type 1 (NF1) is usually based on the presence of characteristic signs and symptoms. Specifically, doctors look for two or more of the following features to make a diagnosis of NF1: Six or more cafe-au-lait spots (measuring more than 5 mm across in children and more than 15 mm across in adolescents and adults) Two or more neurofibromas of any type or one plexiform neurofibroma (a neurofibroma that involves many nerves) Freckling in the underarm and/or groin Optic glioma Two or more Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision) Bone abnormalities including sphenoid dysplasia (absence of bone surrounding the eye) or tibial pseudarthrosis (incomplete healing of a fracture) A parent, sibling, or child who has been diagnosed with NF1 Because many of the features associated with NF1 develop with age, it can sometimes take several years to make a diagnosis in children without a family history of the condition. Genetic testing for changes (mutations) in the NF1 gene is available, but it is often not necessary. Prenatal testing and preimplantation genetic diagnosis is only an option if the disease-causing mutation in the family is known. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Neurofibromatosis type 1 ? assistant Is genetic testing available for neurofibromatosis type 1? Although it is usually not necessary for diagnosis, genetic testing is available for NF1, the gene known to cause neurofibromatosis type 1. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is neurofibromatosis type 1 diagnosed? The diagnosis of neurofibromatosis type 1 (NF1) is usually based on the presence of characteristic signs and symptoms. Specifically, doctors look for two or more of the following features to make a diagnosis of NF1: Six or more cafe-au-lait spots (measuring more than 5 mm across in children and more than 15 mm across in adolescents and adults) Two or more neurofibromas of any type or one plexiform neurofibroma (a neurofibroma that involves many nerves) Freckling in the underarm and/or groin Optic glioma Two or more Lisch nodules (clumps of pigment in the colored part of the eye that do not interfere with vision) Bone abnormalities including sphenoid dysplasia (absence of bone surrounding the eye) or tibial pseudarthrosis (incomplete healing of a fracture) A parent, sibling, or child who has been diagnosed with NF1 Because many of the features associated with NF1 develop with age, it can sometimes take several years to make a diagnosis in children without a family history of the condition. Genetic testing for changes (mutations) in the NF1 gene is available, but it is often not necessary. Prenatal testing and preimplantation genetic diagnosis is only an option if the disease-causing mutation in the family is known. |
What are the treatments for Neurofibromatosis type 1 ? | How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant peripheral nerve sheath tumors are generally treated with complete surgical excision (when possible) although some cases may require the addition of chemotherapy and/or radiation therapy. Most optic gliomas associated with NF1 do not cause any symptoms and therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1. GeneReview's Web site offers more specific information regarding the treatment and management of NF1. Please click on the link to access this resource. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Neurofibromatosis type 1 ? assistant How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant peripheral nerve sheath tumors are generally treated with complete surgical excision (when possible) although some cases may require the addition of chemotherapy and/or radiation therapy. Most optic gliomas associated with NF1 do not cause any symptoms and therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1. GeneReview's Web site offers more specific information regarding the treatment and management of NF1. Please click on the link to access this resource. |
What is (are) Lichen sclerosus ? | Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering. It often lasts for years and can cause permanent scarring. The underlying cause of lichen sclerosus is not fully understood but it is thought to relate to an autoimmune process. Treatment may include topical steroids or other types of topical creams and/or surgery. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Lichen sclerosus ? assistant Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while others may experience itchiness (sometimes severe), discomfort, or blistering. It often lasts for years and can cause permanent scarring. The underlying cause of lichen sclerosus is not fully understood but it is thought to relate to an autoimmune process. Treatment may include topical steroids or other types of topical creams and/or surgery. |
What are the symptoms of Lichen sclerosus ? | What are the signs and symptoms of Lichen sclerosus? The symptoms are the same in children and adults. Early in the disease, small, subtle white spots appear. These areas are usually slightly shiny and smooth. As time goes on, the spots develop into bigger patches, and the skin surface becomes thinned and crinkled. As a result, the skin tears easily, and bright red or purple discoloration from bleeding inside the skin is common. Symptoms vary depending on the area affected. Patients experience different degrees of discomfort. When lichen sclerosus occurs on parts of the body other than the genital area, most often there are no symptoms, other than itching. If the disease is severe, bleeding, tearing, and blistering caused by rubbing or bumping the skin can cause pain. The Human Phenotype Ontology provides the following list of signs and symptoms for Lichen sclerosus. 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 renal physiology 90% Abnormality of reproductive system physiology 90% Abnormality of the gastrointestinal tract 90% Aplasia/Hypoplasia of the skin 90% Constipation 90% Hyperkeratosis 90% Lichenification 90% Pruritus 90% Autoimmunity 7.5% Psoriasis 7.5% Vaginal neoplasm 7.5% Verrucae 7.5% Autosomal dominant inheritance - Squamous cell carcinoma - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Lichen sclerosus ? assistant What are the signs and symptoms of Lichen sclerosus? The symptoms are the same in children and adults. Early in the disease, small, subtle white spots appear. These areas are usually slightly shiny and smooth. As time goes on, the spots develop into bigger patches, and the skin surface becomes thinned and crinkled. As a result, the skin tears easily, and bright red or purple discoloration from bleeding inside the skin is common. Symptoms vary depending on the area affected. Patients experience different degrees of discomfort. When lichen sclerosus occurs on parts of the body other than the genital area, most often there are no symptoms, other than itching. If the disease is severe, bleeding, tearing, and blistering caused by rubbing or bumping the skin can cause pain. The Human Phenotype Ontology provides the following list of signs and symptoms for Lichen sclerosus. 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 renal physiology 90% Abnormality of reproductive system physiology 90% Abnormality of the gastrointestinal tract 90% Aplasia/Hypoplasia of the skin 90% Constipation 90% Hyperkeratosis 90% Lichenification 90% Pruritus 90% Autoimmunity 7.5% Psoriasis 7.5% Vaginal neoplasm 7.5% Verrucae 7.5% Autosomal dominant inheritance - Squamous cell carcinoma - 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 Lichen sclerosus ? | What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of the skin. Other autoimmune conditions are reported to occur more frequently than expected in people with lichen sclerosis. In some cases, lichen sclerosus appears on skin that has been damaged or scarred from previous injury or trauma. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Lichen sclerosus ? assistant What causes lichen sclerosus? The underlying cause of lichen sclerosus is not fully understood. The condition may be due to genetic, hormonal, irritant and/or infectious factors (or a combination of these factors). It is believed to relate to an autoimmune process, in which antibodies mistakenly attack a component of the skin. Other autoimmune conditions are reported to occur more frequently than expected in people with lichen sclerosis. In some cases, lichen sclerosus appears on skin that has been damaged or scarred from previous injury or trauma. |
What are the treatments for Lichen sclerosus ? | How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearance to return to normal. Other treatments that may be used instead of steroid creams, or in combination with steroid creams, include calcipotriol cream, topical and systemic retinoids (acitretin), and/or systemic steroids. If the vaginal opening has narrowed, dilators may be needed. In rare cases, surgery is necessary to allow for sexual intercourse. The condition sometimes causes the vaginal opening to narrow or close again after surgery is initially successful. Additional information about treatment of lichen sclerosus can be viewed on Medscape's Web site. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Lichen sclerosus ? assistant How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearance to return to normal. Other treatments that may be used instead of steroid creams, or in combination with steroid creams, include calcipotriol cream, topical and systemic retinoids (acitretin), and/or systemic steroids. If the vaginal opening has narrowed, dilators may be needed. In rare cases, surgery is necessary to allow for sexual intercourse. The condition sometimes causes the vaginal opening to narrow or close again after surgery is initially successful. Additional information about treatment of lichen sclerosus can be viewed on Medscape's Web site. |
What are the symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ? | What are the signs and symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive. 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) Arthritis - Autosomal recessive inheritance - B lymphocytopenia - Conjunctivitis - Diarrhea - Failure to thrive - Failure to thrive secondary to recurrent infections - Mastoiditis - Meningitis - Otitis media - Panhypogammaglobulinemia - Pneumonia - Recurrent opportunistic infections - Severe combined immunodeficiency - Severe T lymphocytopenia - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ? assistant What are the signs and symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive. 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) Arthritis - Autosomal recessive inheritance - B lymphocytopenia - Conjunctivitis - Diarrhea - Failure to thrive - Failure to thrive secondary to recurrent infections - Mastoiditis - Meningitis - Otitis media - Panhypogammaglobulinemia - Pneumonia - Recurrent opportunistic infections - Severe combined immunodeficiency - Severe T lymphocytopenia - 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 symptoms of Spastic paraplegia 15 ? | What are the signs and symptoms of Spastic paraplegia 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 15. 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) Peripheral axonal neuropathy 5/9 Retinal degeneration 3/7 Nystagmus 4/10 Ataxia - Autosomal recessive inheritance - Babinski sign - Bowel incontinence - Clonus - Distal amyotrophy - Dysarthria - Hypoplasia of the corpus callosum - Intellectual disability - Lower limb muscle weakness - Lower limb spasticity - Macular degeneration - Mood swings - Pes cavus - Phenotypic variability - Progressive - Psychosis - Reduced visual acuity - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spastic paraplegia 15 ? assistant What are the signs and symptoms of Spastic paraplegia 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 15. 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) Peripheral axonal neuropathy 5/9 Retinal degeneration 3/7 Nystagmus 4/10 Ataxia - Autosomal recessive inheritance - Babinski sign - Bowel incontinence - Clonus - Distal amyotrophy - Dysarthria - Hypoplasia of the corpus callosum - Intellectual disability - Lower limb muscle weakness - Lower limb spasticity - Macular degeneration - Mood swings - Pes cavus - Phenotypic variability - Progressive - Psychosis - Reduced visual acuity - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - 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 symptoms of Ossicular Malformations, familial ? | What are the signs and symptoms of Ossicular Malformations, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Ossicular Malformations, 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 the middle ear ossicles - Autosomal dominant inheritance - Congenital conductive hearing 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Ossicular Malformations, familial ? assistant What are the signs and symptoms of Ossicular Malformations, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Ossicular Malformations, 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 the middle ear ossicles - Autosomal dominant inheritance - Congenital conductive hearing 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 symptoms of Spinocerebellar ataxia autosomal recessive 8 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 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) Incoordination 90% Cerebellar atrophy - Dysarthria - Dysmetria - Gait ataxia - Limb ataxia - Nystagmus - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Spinocerebellar ataxia autosomal recessive 8 ? assistant What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 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) Incoordination 90% Cerebellar atrophy - Dysarthria - Dysmetria - Gait ataxia - Limb ataxia - Nystagmus - 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 is (are) VIPoma ? | VIPoma is a rare cancer that develops within the pancreas. This tumor causes pancreatic cells to produce high levels of a hormone called vasoactive intestinal peptide (VIP). The signs and symptoms of a VIPoma include abdominal pain, flushing or redness of the face, nausea, watery diarrhea, weight loss, dehydration, and low blood potassium (hypokalemia). VIPomas are usually diagnosed in adults around age 50. The cause of VIPoma is unknown. Treatment may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) VIPoma ? assistant VIPoma is a rare cancer that develops within the pancreas. This tumor causes pancreatic cells to produce high levels of a hormone called vasoactive intestinal peptide (VIP). The signs and symptoms of a VIPoma include abdominal pain, flushing or redness of the face, nausea, watery diarrhea, weight loss, dehydration, and low blood potassium (hypokalemia). VIPomas are usually diagnosed in adults around age 50. The cause of VIPoma is unknown. Treatment may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. |
What are the treatments for VIPoma ? | How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency ablation, or hepatic artery embolization. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for VIPoma ? assistant How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency ablation, or hepatic artery embolization. |
What are the symptoms of Laurin-Sandrow syndrome ? | What are the signs and symptoms of Laurin-Sandrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurin-Sandrow 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 the metacarpal bones 90% Aplasia/Hypoplasia of the thumb 90% Finger syndactyly 90% Preaxial foot polydactyly 90% Preaxial hand polydactyly 90% Tarsal synostosis 90% Toe syndactyly 90% Abnormality of the tibia 50% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Limb duplication 50% Limitation of joint mobility 50% Talipes 50% Underdeveloped nasal alae 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Downturned corners of mouth 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Muscular hypotonia 7.5% Abnormality of the face - Absent radius - Absent tibia - Autosomal dominant inheritance - Broad foot - Fibular duplication - Hand polydactyly - Patellar aplasia - Short foot - Syndactyly - Triphalangeal thumb - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Laurin-Sandrow syndrome ? assistant What are the signs and symptoms of Laurin-Sandrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurin-Sandrow 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 the metacarpal bones 90% Aplasia/Hypoplasia of the thumb 90% Finger syndactyly 90% Preaxial foot polydactyly 90% Preaxial hand polydactyly 90% Tarsal synostosis 90% Toe syndactyly 90% Abnormality of the tibia 50% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Limb duplication 50% Limitation of joint mobility 50% Talipes 50% Underdeveloped nasal alae 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Downturned corners of mouth 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Muscular hypotonia 7.5% Abnormality of the face - Absent radius - Absent tibia - Autosomal dominant inheritance - Broad foot - Fibular duplication - Hand polydactyly - Patellar aplasia - Short foot - Syndactyly - Triphalangeal thumb - 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 is (are) Pseudohypoparathyroidism type 1C ? | Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Pseudohypoparathyroidism type 1C ? assistant Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene. |
What are the symptoms of Pseudohypoparathyroidism type 1C ? | What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. 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 - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Pseudohypoparathyroidism - Round face - Seizures - Short metacarpal - Short metatarsal - Short neck - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Pseudohypoparathyroidism type 1C ? assistant What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. 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 - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Pseudohypoparathyroidism - Round face - Seizures - Short metacarpal - Short metatarsal - Short neck - 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. |
What is (are) Vohwinkel syndrome ? | Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner. Although there is currently no cure for the condition, treatments are available to alleviate symptoms. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Vohwinkel syndrome ? assistant Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner. Although there is currently no cure for the condition, treatments are available to alleviate symptoms. |
What are the symptoms of Vohwinkel syndrome ? | What are the signs and symptoms of Vohwinkel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vohwinkel 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) Sensorineural hearing impairment 90% Abnormality of the genital system 50% Cognitive impairment 50% Abnormality of the toenails 7.5% Alopecia 7.5% Cleft palate 7.5% Ichthyosis 7.5% Osteolysis 7.5% Self-injurious behavior 7.5% Amniotic constriction ring - Autoamputation of digits - Autosomal dominant inheritance - Honeycomb palmoplantar keratoderma - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Vohwinkel syndrome ? assistant What are the signs and symptoms of Vohwinkel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vohwinkel 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) Sensorineural hearing impairment 90% Abnormality of the genital system 50% Cognitive impairment 50% Abnormality of the toenails 7.5% Alopecia 7.5% Cleft palate 7.5% Ichthyosis 7.5% Osteolysis 7.5% Self-injurious behavior 7.5% Amniotic constriction ring - Autoamputation of digits - Autosomal dominant inheritance - Honeycomb palmoplantar keratoderma - 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 is (are) Plasmablastic lymphoma ? | Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression of the immune system (i.e. HIV infection, immunosuppressive therapy). There is currently no standard therapy for plasmablastic lymphoma. Treatment usually consists of chemotherapy with or without radiation therapy and hematopoietic stem cell transplantation. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Plasmablastic lymphoma ? assistant Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression of the immune system (i.e. HIV infection, immunosuppressive therapy). There is currently no standard therapy for plasmablastic lymphoma. Treatment usually consists of chemotherapy with or without radiation therapy and hematopoietic stem cell transplantation. |
What are the symptoms of Blepharoptosis myopia ectopia lentis ? | What are the signs and symptoms of Blepharoptosis myopia ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharoptosis myopia ectopia lentis. 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) Ectopia lentis 90% Glaucoma 90% Myopia 90% Abnormality of the fingernails 50% Palpebral edema 50% Abnormality of retinal pigmentation 7.5% Abnormality of the helix 7.5% Iris coloboma 7.5% Prominent occiput 7.5% Autosomal dominant inheritance - Congenital ptosis - Increased axial globe length - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Blepharoptosis myopia ectopia lentis ? assistant What are the signs and symptoms of Blepharoptosis myopia ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharoptosis myopia ectopia lentis. 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) Ectopia lentis 90% Glaucoma 90% Myopia 90% Abnormality of the fingernails 50% Palpebral edema 50% Abnormality of retinal pigmentation 7.5% Abnormality of the helix 7.5% Iris coloboma 7.5% Prominent occiput 7.5% Autosomal dominant inheritance - Congenital ptosis - Increased axial globe length - 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 is (are) Familial dermographism ? | Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Familial dermographism ? assistant Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own. |
What are the symptoms of Familial dermographism ? | What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. 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 - Dermatographic urticaria - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Familial dermographism ? assistant What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. 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 - Dermatographic urticaria - 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 symptoms of Oculoectodermal syndrome ? | What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal 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 corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7.5% Cleft eyelid 7.5% Displacement of the external urethral meatus 7.5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Oculoectodermal syndrome ? assistant What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal 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 corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7.5% Cleft eyelid 7.5% Displacement of the external urethral meatus 7.5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - 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 is (are) Adult-onset Still's disease ? | Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition in children in 1896. Still's disease which occurs in children (those under the age of 16) is now known as systemic onset juvenile rheumatoid arthritis (JRA). In 1971, the term "adult Still's disease" was used to describe adults who had a condition similar to systemic onset JRA. The cause of adult-onset Still's disease is unknown. No risk factors for the disease have been identified. There's no cure for adult-onset Still's disease; however, treatment may offer symptom relief and help prevent complications. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Adult-onset Still's disease ? assistant Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition in children in 1896. Still's disease which occurs in children (those under the age of 16) is now known as systemic onset juvenile rheumatoid arthritis (JRA). In 1971, the term "adult Still's disease" was used to describe adults who had a condition similar to systemic onset JRA. The cause of adult-onset Still's disease is unknown. No risk factors for the disease have been identified. There's no cure for adult-onset Still's disease; however, treatment may offer symptom relief and help prevent complications. |
What are the symptoms of Adult-onset Still's disease ? | What are the signs and symptoms of Adult-onset Still's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset Still's disease. 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 temperature regulation 90% Arthralgia 90% Arthritis 90% Hepatomegaly 90% Joint swelling 90% Leukocytosis 90% Pruritus 90% Restrictive lung disease 90% Skin rash 90% Splenomegaly 90% Urticaria 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Mediastinal lymphadenopathy 50% Myalgia 50% Abnormality of lipid metabolism 7.5% Abnormality of the myocardium 7.5% Bone marrow hypocellularity 7.5% Cartilage destruction 7.5% Elevated hepatic transaminases 7.5% Meningitis 7.5% Recurrent pharyngitis 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Adult-onset Still's disease ? assistant What are the signs and symptoms of Adult-onset Still's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset Still's disease. 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 temperature regulation 90% Arthralgia 90% Arthritis 90% Hepatomegaly 90% Joint swelling 90% Leukocytosis 90% Pruritus 90% Restrictive lung disease 90% Skin rash 90% Splenomegaly 90% Urticaria 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Mediastinal lymphadenopathy 50% Myalgia 50% Abnormality of lipid metabolism 7.5% Abnormality of the myocardium 7.5% Bone marrow hypocellularity 7.5% Cartilage destruction 7.5% Elevated hepatic transaminases 7.5% Meningitis 7.5% Recurrent pharyngitis 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 causes Adult-onset Still's disease ? | What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. To date, no conclusive evidence has been found to prove or disprove either theory. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Adult-onset Still's disease ? assistant What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. To date, no conclusive evidence has been found to prove or disprove either theory. |
What is (are) Menetrier disease ? | Mntrier disease is a condition characterized by inflammation and ulcers of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. The condition is associated with the following signs: protein loss from the stomach, excessive mucus production, and hypochlorhydria (low levels of stomach acid) or achlorhydia (absent levels of stomach acid). Symptoms usually include vomiting, diarrhea, and weight loss. The disease may increase an individual's risk of developing stomach cancer. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Menetrier disease ? assistant Mntrier disease is a condition characterized by inflammation and ulcers of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. The condition is associated with the following signs: protein loss from the stomach, excessive mucus production, and hypochlorhydria (low levels of stomach acid) or achlorhydia (absent levels of stomach acid). Symptoms usually include vomiting, diarrhea, and weight loss. The disease may increase an individual's risk of developing stomach cancer. |
What are the symptoms of Menetrier disease ? | What are the signs and symptoms of Menetrier disease? Although some patients with Mntrier disease may not experience symptoms, most patients have stomach pain, diarrhea, weight loss, peripheral edema, and sometimes bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Menetrier disease. 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) Abdominal pain 90% Edema of the lower limbs 90% Nausea and vomiting 90% Anorexia 50% Gastrointestinal hemorrhage 50% Hypoproteinemia 50% Iron deficiency anemia 50% Weight loss 50% Sepsis 7.5% Giant hypertrophic gastritis - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Menetrier disease ? assistant What are the signs and symptoms of Menetrier disease? Although some patients with Mntrier disease may not experience symptoms, most patients have stomach pain, diarrhea, weight loss, peripheral edema, and sometimes bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Menetrier disease. 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) Abdominal pain 90% Edema of the lower limbs 90% Nausea and vomiting 90% Anorexia 50% Gastrointestinal hemorrhage 50% Hypoproteinemia 50% Iron deficiency anemia 50% Weight loss 50% Sepsis 7.5% Giant hypertrophic gastritis - 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 Menetrier disease ? | What causes Mntrier disease? The exact cause of Mntrier disease is unknown. However, it has been associated with cytomegalovirus (CMV) infection in children and Heliobacter pylori (H. pylori) infection in adults. In addition, some have suggested that overexpression of a type of growth factor called the transforming growth factor-, which is found in a specific part of the stomach, the superficial gastric epithelium, might play a role. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What causes Menetrier disease ? assistant What causes Mntrier disease? The exact cause of Mntrier disease is unknown. However, it has been associated with cytomegalovirus (CMV) infection in children and Heliobacter pylori (H. pylori) infection in adults. In addition, some have suggested that overexpression of a type of growth factor called the transforming growth factor-, which is found in a specific part of the stomach, the superficial gastric epithelium, might play a role. |
What are the treatments for Menetrier disease ? | What treatment is available for Mntrier disease? No one treatment has proven effective for all patients with Mntrier disease; however, some benefit has been shown through the use of anticholinergic drugs, acid suppression, octreotide, and H. pylori eradication. Partial or complete removal of the stomach is generally recommended for those patients who continue to have protein loss or who have signs of pre-cancer or cancer. You can locate additional treatment information by searching PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "menetrier disease AND treatment" as your search term should locate articles. To narrow your search, click on the Limits tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Menetrier disease ? assistant What treatment is available for Mntrier disease? No one treatment has proven effective for all patients with Mntrier disease; however, some benefit has been shown through the use of anticholinergic drugs, acid suppression, octreotide, and H. pylori eradication. Partial or complete removal of the stomach is generally recommended for those patients who continue to have protein loss or who have signs of pre-cancer or cancer. You can locate additional treatment information by searching PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "menetrier disease AND treatment" as your search term should locate articles. To narrow your search, click on the Limits tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area. |
What is (are) Salivary gland cancer, adult ? | Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major salivary glands: the parotid glands, the sublingual glands, and the submandibular glands. The National Cancer Institute provides a picture of the anatomy of the salivary glands. Some risk factors for salivary gland cancer are older age, exposure to radiation of the head and/or neck area, and family history. Signs and symptoms of the disease may include: a lump near the ear, cheek, jaw, lip, or inside of the mouth; trouble swallowing; fluid draining from the ear; numbness or weakness in the face; and on-going pain in the face. Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (currently used by physicians) and some are being tested in clinical trials (by researchers). It is suggested that patients with salivary gland cancer have their treatment planned and managed by a team of doctors who are experts in treating head and neck cancer. Although treatment depends on the stage of the cancer, typically the following three treatments are used: (1) surgery, (2) radiation therapy, and (3) chemotherapy. [1] [2] | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Salivary gland cancer, adult ? assistant Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major salivary glands: the parotid glands, the sublingual glands, and the submandibular glands. The National Cancer Institute provides a picture of the anatomy of the salivary glands. Some risk factors for salivary gland cancer are older age, exposure to radiation of the head and/or neck area, and family history. Signs and symptoms of the disease may include: a lump near the ear, cheek, jaw, lip, or inside of the mouth; trouble swallowing; fluid draining from the ear; numbness or weakness in the face; and on-going pain in the face. Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (currently used by physicians) and some are being tested in clinical trials (by researchers). It is suggested that patients with salivary gland cancer have their treatment planned and managed by a team of doctors who are experts in treating head and neck cancer. Although treatment depends on the stage of the cancer, typically the following three treatments are used: (1) surgery, (2) radiation therapy, and (3) chemotherapy. [1] [2] |
What is (are) Myofibrillar myopathy ? | Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy or cardiomyopathy may also be present. Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood. It may be caused by mutations in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC, and BAG3; the signs and symptoms of MFM can vary widely depending on the condition's genetic cause. It is inherited in an autosomal dominant manner. Treatment may include a pacemaker and implantable cardioverter defibrillator (ICD) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory support for respiratory failure; and physical therapy and assistive devices for those with advanced muscle weakness. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Myofibrillar myopathy ? assistant Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy or cardiomyopathy may also be present. Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood. It may be caused by mutations in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC, and BAG3; the signs and symptoms of MFM can vary widely depending on the condition's genetic cause. It is inherited in an autosomal dominant manner. Treatment may include a pacemaker and implantable cardioverter defibrillator (ICD) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory support for respiratory failure; and physical therapy and assistive devices for those with advanced muscle weakness. |
What are the symptoms of Myofibrillar myopathy ? | What are the signs and symptoms of Myofibrillar myopathy? Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of MFM can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the front surface of the eyes (cataracts). The Human Phenotype Ontology provides the following list of signs and symptoms for Myofibrillar 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) Arrhythmia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bulbar palsy - Constipation - Diarrhea - Dilated cardiomyopathy - Distal muscle weakness - EMG: myopathic abnormalities - Facial palsy - Hypertrophic cardiomyopathy - Hyporeflexia of lower limbs - Late-onset proximal muscle weakness - Neck muscle weakness - Phenotypic variability - Respiratory insufficiency due to muscle weakness - Restrictive heart failure - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Myofibrillar myopathy ? assistant What are the signs and symptoms of Myofibrillar myopathy? Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of MFM can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the front surface of the eyes (cataracts). The Human Phenotype Ontology provides the following list of signs and symptoms for Myofibrillar 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) Arrhythmia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bulbar palsy - Constipation - Diarrhea - Dilated cardiomyopathy - Distal muscle weakness - EMG: myopathic abnormalities - Facial palsy - Hypertrophic cardiomyopathy - Hyporeflexia of lower limbs - Late-onset proximal muscle weakness - Neck muscle weakness - Phenotypic variability - Respiratory insufficiency due to muscle weakness - Restrictive heart failure - 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 symptoms of Hypertrichosis lanuginosa, acquired ? | What are the signs and symptoms of Hypertrichosis lanuginosa, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa, acquired. 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 eye 90% Abnormality of the eyebrow 90% Congenital, generalized hypertrichosis 90% Fine hair 90% Hypopigmentation of hair 90% Glossitis 50% Acanthosis nigricans 7.5% Ichthyosis 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Ovarian neoplasm 7.5% Weight loss 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hypertrichosis lanuginosa, acquired ? assistant What are the signs and symptoms of Hypertrichosis lanuginosa, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa, acquired. 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 eye 90% Abnormality of the eyebrow 90% Congenital, generalized hypertrichosis 90% Fine hair 90% Hypopigmentation of hair 90% Glossitis 50% Acanthosis nigricans 7.5% Ichthyosis 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Ovarian neoplasm 7.5% Weight loss 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 symptoms of Kohlschutter Tonz syndrome ? | What are the signs and symptoms of Kohlschutter Tonz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kohlschutter Tonz 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 dental color 90% Abnormality of dental enamel 90% Developmental regression 90% EEG abnormality 90% Hypertonia 90% Seizures 90% Hypohidrosis 50% Hydrocephalus 7.5% Short stature 7.5% Amelogenesis imperfecta - Ataxia - Autosomal recessive inheritance - Cerebellar hypoplasia - Cerebral atrophy - Dementia - Epileptic encephalopathy - Hypoplasia of dental enamel - Hypsarrhythmia - Intellectual disability, severe - Spasticity - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Kohlschutter Tonz syndrome ? assistant What are the signs and symptoms of Kohlschutter Tonz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kohlschutter Tonz 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 dental color 90% Abnormality of dental enamel 90% Developmental regression 90% EEG abnormality 90% Hypertonia 90% Seizures 90% Hypohidrosis 50% Hydrocephalus 7.5% Short stature 7.5% Amelogenesis imperfecta - Ataxia - Autosomal recessive inheritance - Cerebellar hypoplasia - Cerebral atrophy - Dementia - Epileptic encephalopathy - Hypoplasia of dental enamel - Hypsarrhythmia - Intellectual disability, severe - Spasticity - 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 symptoms of Cataract and cardiomyopathy ? | What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. 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) Cataract 90% Hypertrophic cardiomyopathy 90% Myopathy 90% Nystagmus 90% Strabismus 90% Myopia 50% Abnormal electroretinogram 7.5% Corneal dystrophy 7.5% Glaucoma 7.5% Thrombocytopenia 5% 3-Methylglutaconic aciduria - Autosomal recessive inheritance - Congenital cataract - Easy fatigability - Exercise intolerance - Exercise-induced lactic acidemia - Fatigue - Growth delay - Increased serum lactate - Infantile onset - Mitochondrial myopathy - Motor delay - Muscle weakness - Muscular hypotonia - Respiratory insufficiency - 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. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Cataract and cardiomyopathy ? assistant What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. 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) Cataract 90% Hypertrophic cardiomyopathy 90% Myopathy 90% Nystagmus 90% Strabismus 90% Myopia 50% Abnormal electroretinogram 7.5% Corneal dystrophy 7.5% Glaucoma 7.5% Thrombocytopenia 5% 3-Methylglutaconic aciduria - Autosomal recessive inheritance - Congenital cataract - Easy fatigability - Exercise intolerance - Exercise-induced lactic acidemia - Fatigue - Growth delay - Increased serum lactate - Infantile onset - Mitochondrial myopathy - Motor delay - Muscle weakness - Muscular hypotonia - Respiratory insufficiency - 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 is (are) Angelman syndrome ? | Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent. Treatment is aimed at addressing each individual's symptoms and may include antiepileptics for seizures; physical, occupational, and speech therapy; and special education services. | Answer the question truthfully, you are a medical professional. | system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Angelman syndrome ? assistant Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent. Treatment is aimed at addressing each individual's symptoms and may include antiepileptics for seizures; physical, occupational, and speech therapy; and special education services. |
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