sarnsrun/medquad huggingface dataset:
Topic: Autoimmune hemolytic anemia
Question: What causes Autoimmune hemolytic anemia ?
Answer: What causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a person has a blood and marrow stem cell transplant. Secondary causes of autoimmune hemolytic anemia include:  Autoimmune diseases, such as lupus Chronic lymphocytic leukemia Non-Hodgkin's lymphoma and other blood cancers Epstein-Barr virus Cytomegalovirus Mycoplasma pneumonia Hepatitis HIV
Source: GARD
Topic: Autoimmune hemolytic anemia
Question: Is Autoimmune hemolytic anemia inherited ?
Answer: Is autoimmune hemolytic anemia inherited? In many cases, the cause of autoimmune hemolytic anemia remains unknown. Some researchers believe that there are multiple factors involved, including genetic and environmental influences (multifactorial). In a very small number of cases, autoimmune hemolytic anemia appears to run in families. In these cases, it appears to follow an autosomal recessive pattern of inheritance. If you have concerns about the specific risks in your family, we encourage you to consult with a genetics professional.
Source: GARD
Topic: Primary orthostatic hypotension
Question: What is (are) Primary orthostatic hypotension ?
Answer: Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinsons disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or blackout. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.
Source: GARD
Topic: Basilar migraine
Question: What is (are) Basilar migraine ?
Answer: Basilar migraine is a type of migraine headache with aura that is associated with bilateral (on both sides) pain at the back of the head. An aura is a group of symptoms that generally serve as a warning sign that a bad headache is coming and may include dizziness and vertigo, slurred speech, ataxia, tinnitus, visual changes, and loss of balance. Although basilar migraines can occur in men and women of all ages, they are most common in adolescent girls. The exact underlying cause is not well understood. However, migraines are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors. In rare cases, the susceptibility to basilar migraines may be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. During episodes, affected people are typically treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms.
Source: GARD
Topic: Basilar migraine
Question: What are the symptoms of Basilar migraine ?
Answer: What are the signs and symptoms of Basilar migraine? Episodes of basilar migraines usually begin with an aura, which is a group of symptoms that serve as a warning sign that a bad headache is coming. Signs and symptoms of an aura vary, but may include: Dizziness and vertigo Disorientation Double vision and other visual changes Tinnitus Loss of balance Confusion Dysarthria Fainting Loss of consciousness These symptoms can last any where from two minutes to over an hour. They are then followed by a throbbing headache which is often along the back of the head and nausea. The Human Phenotype Ontology provides the following list of signs and symptoms for Basilar migraine. 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) Aphasia - Apraxia - Autosomal dominant inheritance - Blurred vision - Coma - Confusion - Diplopia - Drowsiness - Dysarthria - Dysphasia - Episodic ataxia - Fever - Hemiparesis - Hemiplegia - Incomplete penetrance - Intellectual disability - Migraine with aura - Seizures - Transient unilateral blurring of vision - 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 are the signs and symptoms of a basilar migraine? Episodes of basilar migraines usually begin with an aura, which is a group of symptoms that serve as a warning sign that a bad headache is coming. Signs and symptoms of an aura vary, but may include: Dizziness and vertigo Disorientation Double vision and other visual changes Tinnitus Loss of balance Confusion Dysarthria Fainting Loss of consciousness These symptoms can last any where from two minutes to over an hour. They are then followed by a throbbing headache which is often along the back of the head and nausea.
Source: GARD
Topic: Basilar migraine
Question: What causes Basilar migraine ?
Answer: What causes a basilar migraine? The exact underlying cause of basilar migraines is not well understood. Basilar migraines, like all types of migraines, are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors. Scientists also suspect that nerve abnormalities and/or altered blood flow to certain parts of the brain (brainstem and occipital lobes, specifically) may also play a role in the development of basilar migraines. The susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, episodes of basilar migraines may occur in more than one family member.
Source: GARD
Topic: Basilar migraine
Question: Is Basilar migraine inherited ?
Answer: Are basilar migraines inherited? In most cases, basilar migraines are not inherited. However, the susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, they are inherited in an autosomal dominant manner. This means that to be affected, a person only needs a mutation in one copy of the responsible gene in each cell. In some 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 one of these mutations has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Source: GARD
Topic: Basilar migraine
Question: How to diagnose Basilar migraine ?
Answer: How is a basilar migraine diagnosed? A diagnosis of basilar migraine is made based on the presence of characteristic signs and symptoms. Although there are no tests available to confirm the diagnosis, additional testing may be ordered to rule out other conditions that can cause similar features. These tests may include: Brain MRI MR angiogram (MRA) Electroencephalogram 24-hour heart monitor Specialized blood tests
Source: GARD
Topic: Basilar migraine
Question: What are the treatments for Basilar migraine ?
Answer: How are basilar migraines treated? During episodes of basilar migraines, people are generally treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms. In some cases, a nerve block can be used to treat pain if other therapies are ineffective. In people with episodes of basilar migraines that are frequent, prolonged, or particularly debilitating, certain medications such as verapamil or topiramate may be prescribed as a preventative therapy.
Source: GARD
Topic: Epidermolytic ichthyosis
Question: What is (are) Epidermolytic ichthyosis ?
Answer: Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Blister formation decreases, but may still occur after skin trauma or during summer months. Skin can be itchy and smelly, and prone to infection. Other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure. EI is caused by changes (mutations) in the KRT1 or KRT10 genes. About half of cases are due to new mutations and are not inherited from a parent (sporadic). Other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner. Treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes.
Source: GARD
Topic: Epidermolytic ichthyosis
Question: What are the symptoms of Epidermolytic ichthyosis ?
Answer: What are the signs and symptoms of Epidermolytic ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolytic ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Ichthyosis 90% Weight loss 90% Melanocytic nevus 50% Conjunctival hamartoma 7.5% Palmoplantar keratoderma 7.5% Skin ulcer 7.5% Autosomal dominant inheritance - Erythroderma - Palmoplantar hyperkeratosis - Scaling skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Epidermolytic ichthyosis
Question: Is Epidermolytic ichthyosis inherited ?
Answer: How is epidermolytic ichthyosis inherited? Many cases of epidermolytic ichthyosis (EI) are sporadic. This means they result from a new mutation in one of the responsible genes (KRT1 or KRT10), in people with no family history of EI. However, while people with sporadic EI did not inherit the condition from a parent, they may still pass the condition on to their children. Inherited cases of EI usually have an autosomal dominant inheritance pattern. This means that having a mutation in only one copy of KRT1 or KRT10 in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Typically, EI due to a new mutation will follow autosomal dominant inheritance in subsequent generations. Very rarely, EI caused by mutations in the KRT10 gene is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier.
Source: GARD
Topic: Oculocutaneous albinism type 1B
Question: What are the symptoms of Oculocutaneous albinism type 1B ?
Answer: What are the signs and symptoms of Oculocutaneous albinism type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 1B. 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) Freckling 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Ocular albinism 90% Strabismus 90% Abnormality of the macula 50% Melanocytic nevus 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Neoplasm of the skin 7.5% Thickened skin 7.5% Albinism - Autosomal recessive inheritance - Hypopigmentation of the fundus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Spinocerebellar ataxia 15
Question: What is (are) Spinocerebellar ataxia 15 ?
Answer: Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and  balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.
Source: GARD
Topic: Spinocerebellar ataxia 15
Question: What are the symptoms of Spinocerebellar ataxia 15 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 15? Spinocerebellar ataxia 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor (which occurs when a person tries to maintain a position against gravity, such as holding the arms outstretched), mild hyperreflexia (exaggerated reflexes), gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain (an inability to stabilize the eyes during small head tremors, which makes it difficult to read, etc.). Mild dysphagia and movement-induced oscillopsia (a bouncing and blurring of vision) have been observed in some patients. Symptoms typically present between the ages of 7 and 66 years. Gait ataxia and tremor are often the first noticeable symptoms. The ability to walk independently may be maintained for many years (or even decades) following onset of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 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) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Gaze-evoked horizontal nystagmus - Hyperreflexia - Impaired smooth pursuit - Juvenile onset - Limb ataxia - Postural tremor - Scanning speech - Slow progression - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Stickler syndrome, type 2
Question: What is (are) Stickler syndrome, type 2 ?
Answer: Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.
Source: GARD
Topic: Stickler syndrome, type 2
Question: What are the symptoms of Stickler syndrome, type 2 ?
Answer: What are the signs and symptoms of Stickler syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome, type 2. 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 vitreous humor 90% Cataract 90% Myopia 90% Opacification of the corneal stroma 90% Retinal detachment 90% Sensorineural hearing impairment 90% Cleft palate 50% Retinopathy 50% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Bifid uvula - Depressed nasal bridge - Flat midface - Glaucoma - Joint hypermobility - Long fingers - Malar flattening - Pierre-Robin sequence - Spondyloepiphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Cone dystrophy
Question: What is (are) Cone dystrophy ?
Answer: Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light. There are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy. The age when symptoms begin, the type and severity of symptoms, and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy. Mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner.
Source: GARD