umarjan11/Medical-qna huggingface dataset:
Question: Is intestinal pseudo-obstruction inherited ?

Answer: Intestinal pseudo-obstruction is often not inherited. When it does run in families, it can have different inheritance patterns.  Intestinal pseudo-obstruction caused by FLNA gene mutations is inherited in an X-linked recessive pattern. The FLNA gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  Intestinal pseudo-obstruction can also be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In other families it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When intestinal pseudo-obstruction is inherited in an autosomal dominant or autosomal recessive pattern, the genetic cause of the disorder is unknown.  When intestinal pseudo-obstruction is a feature of MNGIE disease, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA (mtDNA). Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.  In some cases, the inheritance pattern is unknown.
Question: What is (are) Jacobsen syndrome ?

Answer: Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.  The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of speech and motor skills (such as sitting, standing, and walking). Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also associated with an increased likelihood of autism spectrum disorders, which are characterized by impaired communication and socialization skills.  Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance.  More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cell fragments that are necessary for blood clotting.  Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood.
Question: What are the symptoms of Diarrhea ?

Answer: Diarrhea may be accompanied by cramping, abdominal pain, nausea, an urgent need to use the bathroom, or loss of bowel control. Some infections that cause diarrhea can also cause a fever and chills or bloody stools.
                
Dehydration
                
Diarrhea can cause dehydration. Loss of electrolytes through dehydration affects the amount of water in the body, muscle activity, and other important functions.
                
Dehydration is particularly dangerous in children, older adults, and people with weakened immune systems. Dehydration must be treated promptly to avoid serious health problems, such as organ damage, shock, or comaa sleeplike state in which a person is not conscious.
                
Signs of dehydration in adults include
                
- thirst  - less frequent urination than usual  - dark-colored urine  - dry skin  - fatigue  - dizziness  - light-headedness
                
Signs of dehydration in infants and young children include
                
- dry mouth and tongue  - no tears when crying  - no wet diapers for 3 hours or more  - sunken eyes, cheeks, or soft spot in the skull  - high fever  - listlessness or irritability
                
Also, when people are dehydrated, their skin does not flatten back to normal right away after being gently pinched and released.
                
Anyone with signs of dehydration should see a health care provider immediately. Severe dehydration may require hospitalization.
                
Although drinking plenty of water is important in preventing dehydration, water does not contain electrolytes. Adults can prevent dehydration by also drinking liquids that contain electrolytes, such as fruit juices, sports drinks, caffeine-free soft drinks, and broths. Children with diarrhea should be given oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte to prevent dehydration.
Question: What are the complications of Ectopic Kidney ?

Answer: Possible complications of an ectopic kidney include problems with urine drainage from that kidney. Sometimes, urine can even flow backwards from the bladder to the kidney, a problem called vesicoureteral reflux (VUR). More information about VUR is provided in the NIDDK health topic, Vesicoureteral Reflux.
                
Abnormal urine flow and the placement of the ectopic kidney can lead to various problems:
                
- Infection. Normally, urine flow washes out bacteria and keeps them from growing in the kidneys and urinary tract. When a kidney is out of the usual position, urine may get trapped in the ureter or in the kidney itself. Urine that remains in the urinary tract gives bacteria the chance to grow and spread. Symptoms of a urinary tract infection include frequent or painful urination, back or abdominal pain, fever, chills, and cloudy or foul-smelling urine.  - Stones. Urinary stones form from substances found in the urine, such as calcium and oxalate. When urine remains in the urinary tract for too long, the risk that these substances will have time to form stones is increased. Symptoms of urinary stones include extreme pain in the back, side, or pelvis; blood in the urine; fever or chills; vomiting; and a burning feeling during urination.  - Kidney damage. If urine backs up all the way to the kidney, damage to the kidney can occur. As a result, the kidney cant filter wastes and extra water from the blood. One ectopic kidney, even when it has no function, will not cause kidney failure. The other kidney can usually perform the functions of two healthy kidneys. Total kidney failure happens only in rare cases when both kidneys are damaged.  - Trauma. If the ectopic kidney is in the lower abdomen or pelvis, it may be susceptible to injury from blunt trauma. People with an ectopic kidney who want to participate in body contact sports may want to wear protective gear.
Question: What are the symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ?

Answer: What are the signs and symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features. 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 pinna - Aggressive behavior - Arnold-Chiari type I malformation - Blepharophimosis - Broad alveolar ridges - Broad foot - Broad nasal tip - Gingival overgrowth - Highly arched eyebrow - Hyperkeratosis - Hypertrichosis - Intellectual disability - Low anterior hairline - Low posterior hairline - Low-set ears - Posteriorly rotated ears - Prominent fingertip pads - Short chin - Short palpebral fissure - Short philtrum - Sporadic - Thick corpus callosum - Thick eyebrow - 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.
Question: What are the symptoms of Nestor-guillermo progeria syndrome ?

Answer: What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria 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 forearm - Abnormality of the ribs - Atherosclerosis - Autosomal recessive inheritance - Convex nasal ridge - Delayed closure of the anterior fontanelle - Dental crowding - Failure to thrive - Flexion contracture - Hypoplasia of midface - Joint stiffness - Lipoatrophy - Malar flattening - Osteolytic defects of the distal phalanges of the hand - Osteoporosis - Progressive clavicular acroosteolysis - Proptosis - Pulmonary hypertension - Scoliosis - Short stature - Sinus tachycardia - Sparse eyebrow - Sparse eyelashes - Spotty hyperpigmentation - Wide cranial 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.
Question: How to diagnose Hemophilia ?

Answer: If you or your child appears to have a bleeding problem, your doctor will ask about your personal and family medical histories. This will reveal whether you or your family members, including women and girls, have bleeding problems. However, some people who have hemophilia have no recent family history of the disease.
                
You or your child also will likely have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out:
                
How long it takes for your blood to clot
                
Whether your blood has low levels of any clotting factors
                
Whether any clotting factors are completely missing from your blood
                
The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is.
                
Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.
                
The severity of symptoms can overlap between the categories. For example, some people who have mild hemophilia may have bleeding problems almost as often or as severe as some people who have moderate hemophilia.
                
Severe hemophilia can cause serious bleeding problems in babies. Thus, children who have severe hemophilia usually are diagnosed during the first year of life. People who have milder forms of hemophilia may not be diagnosed until they're adults.
                
The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type of the disorder you or your child has. Knowing which type is important because the treatments are different.
                
Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 12 weeks into their pregnancies.
                
Women who are hemophilia carriers also can have "preimplantation diagnosis" to have children who don't have hemophilia.
                
For this process, women have their eggs removed and fertilized by sperm in a laboratory. The embryos are then tested for hemophilia. Only embryos without the disorder are implanted in the womb.
Question: What are the genetic changes related to combined pituitary hormone deficiency ?

Answer: Mutations in at least eight genes have been found to cause combined pituitary hormone deficiency. Mutations in the PROP1 gene are the most common known cause of this disorder, accounting for an estimated 12 to 55 percent of cases. Mutations in other genes have each been identified in a smaller number of affected individuals.  The genes associated with combined pituitary hormone deficiency provide instructions for making proteins called transcription factors, which help control the activity of many other genes. The proteins are involved in the development of the pituitary gland and the specialization (differentiation) of its cell types. The cells of the pituitary gland are responsible for triggering the release of several hormones that direct the development of many parts of the body. Some of the transcription factors are found only in the pituitary gland, and some are also active in other parts of the body.  Mutations in the genes associated with combined pituitary hormone deficiency can result in abnormal differentiation of pituitary gland cells and may prevent the production of several hormones. These hormones can include growth hormone (GH), which is needed for normal growth; follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which both play a role in sexual development and the ability to have children (fertility); thyroid-stimulating hormone (TSH), which helps with thyroid gland function; prolactin, which stimulates the production of breast milk; and adrenocorticotropic hormone (ACTH), which influences energy production in the body and maintains normal blood sugar and blood pressure levels. The degree to which these hormones are deficient is variable, with prolactin and ACTH showing the most variability. In many affected individuals, ACTH deficiency does not occur until late adulthood.  Most people with combined pituitary hormone deficiency do not have identified mutations in any of the genes known to be associated with this condition. The cause of the disorder in these individuals is unknown.
Question: What is (are) allergic asthma ?

Answer: Asthma is a breathing disorder characterized by inflammation of the airways and recurrent episodes of breathing difficulty. These episodes, sometimes referred to as asthma attacks, are triggered by irritation of the inflamed airways. In allergic asthma, the attacks occur when substances known as allergens are inhaled, causing an allergic reaction. Allergens are harmless substances that the body's immune system mistakenly reacts to as though they are harmful. Common allergens include pollen, dust, animal dander, and mold. The immune response leads to the symptoms of asthma. Allergic asthma is the most common form of the disorder.  A hallmark of asthma is bronchial hyperresponsiveness, which means the airways are especially sensitive to irritants and respond excessively. Because of this hyperresponsiveness, attacks can be triggered by irritants other than allergens, such as physical activity, respiratory infections, or exposure to tobacco smoke, in people with allergic asthma.  An asthma attack is characterized by tightening of the muscles around the airways (bronchoconstriction), which narrows the airway and makes breathing difficult. Additionally, the immune reaction can lead to swelling of the airways and overproduction of mucus. During an attack, an affected individual can experience chest tightness, wheezing, shortness of breath, and coughing. Over time, the muscles around the airways can become enlarged (hypertrophied), further narrowing the airways.  Some people with allergic asthma have another allergic disorder, such as hay fever (allergic rhinitis) or food allergies. Asthma is sometimes part of a series of allergic disorders, referred to as the atopic march. Development of these conditions typically follows a pattern, beginning with eczema (atopic dermatitis), followed by food allergies, then hay fever, and finally asthma. However, not all individuals with asthma have progressed through the atopic march, and not all individuals with one allergic disease will develop others.
Question: What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ?

Answer: What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. 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) Agenesis of corpus callosum - Autosomal recessive inheritance - Broad eyebrow - Broad nasal tip - Clinodactyly of the 5th finger - Dental crowding - Full cheeks - High palate - Hypoplasia of the corpus callosum - Intellectual disability - Large earlobe - Macular degeneration - Pes planus - Pointed chin - Poor eye contact - Sensorineural hearing impairment - Smooth philtrum - Strabismus - 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.
Question: What are the symptoms of Reardon Wilson Cavanagh syndrome ?

Answer: What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh 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) Cognitive impairment 90% Incoordination 90% Nystagmus 90% Sensorineural hearing impairment 90% Strabismus 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the cerebellum 50% Cerebral cortical atrophy 50% Decreased nerve conduction velocity 50% EMG abnormality 50% Muscular hypotonia 50% Neurological speech impairment 50% Scoliosis 50% Skeletal muscle atrophy 50% Ventriculomegaly 50% Joint hypermobility 7.5% Ataxia - Autosomal recessive inheritance - Intellectual disability - Progressive sensorineural 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.