umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to Beckwith-Wiedemann syndrome ?

Answer: The genetic causes of Beckwith-Wiedemann syndrome are complex. The condition usually results from the abnormal regulation of genes in a particular region of chromosome 11. People normally inherit one copy of this chromosome from each parent. For most genes on chromosome 11, both copies of the gene are expressed, or "turned on," in cells. For some genes, however, only the copy inherited from a person's father (the paternally inherited copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternally inherited copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes on chromosome 11 that undergo genomic imprinting are responsible for most cases of Beckwith-Wiedemann syndrome.  At least half of all cases result from changes in a process called methylation. Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. In genes that undergo genomic imprinting, methylation is one way that a gene's parent of origin is marked during the formation of egg and sperm cells. Beckwith-Wiedemann syndrome is often associated with changes in regions of DNA on chromosome 11 called imprinting centers (ICs). ICs control the methylation of several genes that are involved in normal growth, including the CDKN1C, H19, IGF2, and KCNQ1OT1 genes. Abnormal methylation disrupts the regulation of these genes, which leads to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome.  About twenty percent of cases of Beckwith-Wiedemann syndrome are caused by a genetic change known as paternal uniparental disomy (UPD). Paternal UPD causes people to have two active copies of paternally inherited genes rather than one active copy from the father and one inactive copy from the mother. People with paternal UPD are also missing genes that are active only on the maternally inherited copy of the chromosome. In Beckwith-Wiedemann syndrome, paternal UPD usually occurs early in embryonic development and affects only some of the body's cells. This phenomenon is called mosaicism. Mosaic paternal UPD leads to an imbalance in active paternal and maternal genes on chromosome 11, which underlies the signs and symptoms of the disorder.  Less commonly, mutations in the CDKN1C gene cause Beckwith-Wiedemann syndrome. This gene provides instructions for making a protein that helps control growth before birth. Mutations in the CDKN1C gene prevent this protein from restraining growth, which leads to the abnormalities characteristic of Beckwith-Wiedemann syndrome.  About 1 percent of all people with Beckwith-Wiedemann syndrome have a chromosomal abnormality such as a rearrangement (translocation), abnormal copying (duplication), or loss (deletion) of genetic material from chromosome 11. Like the other genetic changes responsible for Beckwith-Wiedemann syndrome, these abnormalities disrupt the normal regulation of certain genes on this chromosome.
Question: What are the symptoms of Myofibrillar myopathy ?

Answer: 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.
Question: What are the symptoms of 22q11.2 duplication syndrome ?

Answer: What are the signs and symptoms of 22q11.2 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q11.2 duplication 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 chromosome segregation 90% Abnormal nasal morphology 50% Abnormality of the pharynx 50% Abnormality of the voice 50% Cleft palate 50% Cognitive impairment 50% Epicanthus 50% High forehead 50% Hypertelorism 50% Malar flattening 50% Muscular hypotonia 50% Narrow face 50% Neurological speech impairment 50% Abnormality of immune system physiology 7.5% Abnormality of the aorta 7.5% Abnormality of the philtrum 7.5% Abnormality of the upper urinary tract 7.5% Anterior creases of earlobe 7.5% Aplasia/Hypoplasia of the thymus 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hypoplastic left heart 7.5% Microcephaly 7.5% Obsessive-compulsive behavior 7.5% Ptosis 7.5% Scoliosis 7.5% Seizures 7.5% Stereotypic behavior 7.5% Tetralogy of Fallot 7.5% Transposition of the great arteries 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Abnormality of the pinna - Autosomal dominant inheritance - Delayed speech and language development - Depressed nasal ridge - Growth delay - High palate - Intellectual disability - Low-set ears - Nasal speech - Specific learning disability - Sporadic - Velopharyngeal insufficiency - 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 is (are) Fecal Incontinence ?

Answer: Fecal incontinence can cause embarrassment, fear, and loneliness. Taking steps to cope is important. The following tips can help:
                
- carrying a bag with cleanup supplies and a change of clothes when leaving the house.  - finding public restrooms before one is needed.  - using the toilet before leaving home.  - wearing disposable underwear or absorbent pads inserted in the underwear.  - using fecal deodorantspills that reduce the smell of stool and gas. Although fecal deodorants are available over the counter, a health care provider can help people find them.
                
Eating tends to trigger contractions of the large intestine that push stool toward the rectum and also cause the rectum to contract for 30 to 60 minutes. Both these events increase the likelihood that a person will pass gas and have a bowel movement soon after eating. This activity may increase if the person is anxious. People with fecal incontinence may want to avoid eating in restaurants or at social gatherings, or they may want to take antidiarrheal medications before eating in these situations.
                
Anal Discomfort   The skin around the anus is delicate and sensitive. Constipation and diarrhea or contact between skin and stool can cause pain or itching. The following steps can help relieve anal discomfort:   - Washing the anal area after a bowel movement. Washing with water, but not soap, can help prevent discomfort. Soap can dry out the skin, making discomfort worse. Ideally, the anal area should be washed in the shower with lukewarm water or in a sitz batha special plastic tub that allows a person to sit in a few inches of warm water. No-rinse skin cleansers, such as Cavilon, are a good alternative. Wiping with toilet paper further irritates the skin and should be avoided. Premoistened, alcohol-free towelettes are a better choice.   - Keeping the anal area dry. The anal area should be allowed to air dry after washing. If time doesnt permit air drying, the anal area can be gently patted dry with a lint-free cloth.   - Creating a moisture barrier. A moisture barrier cream that contains ingredients such as dimethiconea type of siliconecan help form a barrier between skin and stool. The anal area should be cleaned before applying barrier cream. However, people should talk with their health care provider before using anal creams and ointments because some can irritate the anus.   - Using nonmedicated powders. Nonmedicated talcum powder or cornstarch can also relieve anal discomfort. As with moisture barrier creams, the anal area should be clean and dry before use.   - Using wicking pads or disposable underwear. Pads and disposable underwear with a wicking layer can pull moisture away from the skin.   - Wearing breathable clothes and underwear. Clothes and underwear should allow air to flow and keep skin dry. Tight clothes or plastic or rubber underwear that blocks air can worsen skin problems.   - Changing soiled underwear as soon as possible.
Question: What are the symptoms of Marden Walker like syndrome ?

Answer: What are the signs and symptoms of Marden Walker like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marden Walker like 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 eyebrow 90% Abnormality of the ribs 90% Arachnodactyly 90% Blepharophimosis 90% Camptodactyly of finger 90% Clinodactyly of the 5th finger 90% Convex nasal ridge 90% Depressed nasal bridge 90% Disproportionate tall stature 90% Hallux valgus 90% Hypoplasia of the zygomatic bone 90% Long toe 90% Macrotia 90% Narrow nasal bridge 90% Abnormality of dental morphology 50% Bowing of the long bones 50% Delayed skeletal maturation 50% Elbow dislocation 50% Hypertelorism 50% Limitation of joint mobility 50% Slender long bone 50% Triphalangeal thumb 50% Underdeveloped nasal alae 50% Aplasia/Hypoplasia of the cerebellum 7.5% Cleft palate 7.5% Laryngomalacia 7.5% Talipes 7.5% Sclerocornea 5% Autosomal recessive inheritance - Camptodactyly of toe - Craniosynostosis - Dental crowding - Dislocated radial head - Distal ulnar hypoplasia - Elbow flexion contracture - Femoral bowing - Glenoid fossa hypoplasia - High palate - Hypoplasia of the maxilla - Joint contracture of the hand - Knee flexion contracture - Lateral clavicle hook - Long hallux - Long metacarpals - Malar flattening - Narrow foot - Narrow nose - Pectus excavatum - Protruding ear - Single umbilical artery - Slender metacarpals - Stridor - Talipes equinovarus - Thin ribs - Ulnar bowing - 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 causes Thalassemias ?

Answer: Your body makes three types of blood cells: red blood cells, white blood cells, and platelets (PLATE-lets). Red blood cells contain hemoglobin, an iron-rich protein that carries oxygen from your lungs to all parts of your body. Hemoglobin also carries carbon dioxide (a waste gas) from your body to your lungs, where it's exhaled.
                
Hemoglobin has two kinds of protein chains: alpha globin and beta globin. If your body doesn't make enough of these protein chains or they're abnormal, red blood cells won't form correctly or carry enough oxygen. Your body won't work well if your red blood cells don't make enough healthy hemoglobin.
                
Genes control how the body makes hemoglobin protein chains. When these genes are missing or altered, thalassemias occur.
                
Thalassemias are inherited disordersthat is, they're passed from parents to children through genes. People who inherit faulty hemoglobin genes from one parent but normal genes from the other are called carriers. Carriers often have no signs of illness other than mild anemia. However, they can pass the faulty genes on to their children.
                
People who have moderate to severe forms of thalassemia have inherited faulty genes from both parents.
                
Alpha Thalassemias
                
You need four genes (two from each parent) to make enough alpha globin protein chains. If one or more of the genes is missing, you'll have alpha thalassemia trait or disease. This means that your body doesn't make enough alpha globin protein.
                
If you're only missing one gene, you're a "silent" carrier. This means you won't have any signs of illness.
                
If you're missing two genes, you have alpha thalassemia trait (also called alpha thalassemia minor). You may have mild anemia.
                
If you're missing three genes, you likely have hemoglobin H disease (which a blood test can detect). This form of thalassemia causes moderate to severe anemia.
                
Very rarely, a baby is missing all four genes. This condition is called alpha thalassemia major or hydrops fetalis. Babies who have hydrops fetalis usually die before or shortly after birth.
                
Example of an Inheritance Pattern for Alpha Thalassemia
                

                
Beta Thalassemias
                
You need two genes (one from each parent) to make enough beta globin protein chains. If one or both of these genes are altered, you'll have beta thalassemia. This means that your body wont make enough beta globin protein.
                
If you have one altered gene, you're a carrier. This condition is called beta thalassemia trait or beta thalassemia minor. It causes mild anemia.
                
If both genes are altered, you'll have beta thalassemia intermedia or beta thalassemia major (also called Cooley's anemia). The intermedia form of the disorder causes moderate anemia. The major form causes severe anemia.
                
Example of an Inheritance Pattern for Beta Thalassemia
Question: What are the genetic changes related to color vision deficiency ?

Answer: Mutations in the OPN1LW, OPN1MW, and OPN1SW genes cause the forms of color vision deficiency described above. The proteins produced from these genes play essential roles in color vision. They are found in the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells, called rods and cones, that transmit visual signals from the eye to the brain. Rods provide vision in low light. Cones provide vision in bright light, including color vision. There are three types of cones, each containing a specific pigment (a photopigment called an opsin) that is most sensitive to particular wavelengths of light. The brain combines input from all three types of cones to produce normal color vision.  The OPN1LW, OPN1MW, and OPN1SW genes provide instructions for making the three opsin pigments in cones. The opsin made from the OPN1LW gene is more sensitive to light in the yellow/orange part of the visible spectrum (long-wavelength light), and cones with this pigment are called long-wavelength-sensitive or L cones. The opsin made from the OPN1MW gene is more sensitive to light in the middle of the visible spectrum (yellow/green light), and cones with this pigment are called middle-wavelength-sensitive or M cones. The opsin made from the OPN1SW gene is more sensitive to light in the blue/violet part of the visible spectrum (short-wavelength light), and cones with this pigment are called short-wavelength-sensitive or S cones.  Genetic changes involving the OPN1LW or OPN1MW gene cause red-green color vision defects. These changes lead to an absence of L or M cones or to the production of abnormal opsin pigments in these cones that affect red-green color vision. Blue-yellow color vision defects result from mutations in the OPN1SW gene. These mutations lead to the premature destruction of S cones or the production of defective S cones. Impaired S cone function alters perception of the color blue, making it difficult or impossible to detect differences between shades of blue and green and causing problems with distinguishing dark blue from black.  Blue cone monochromacy occurs when genetic changes affecting the OPN1LW and OPN1MW genes prevent both L and M cones from functioning normally. In people with this condition, only S cones are functional, which leads to reduced visual acuity and poor color vision. The loss of L and M cone function also underlies the other vision problems in people with blue cone monochromacy.  Some problems with color vision are not caused by gene mutations. These nonhereditary conditions are described as acquired color vision deficiencies. They can be caused by other eye disorders, such as diseases involving the retina, the nerve that carries visual information from the eye to the brain (the optic nerve), or areas of the brain involved in processing visual information. Acquired color vision deficiencies can also be side effects of certain drugs, such as chloroquine (which is used to treat malaria), or result from exposure to particular chemicals, such as organic solvents.
Question: What are the symptoms of Mucopolysaccharidosis type VI ?

Answer: What are the signs and symptoms of Mucopolysaccharidosis type VI? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis 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) Abnormality of epiphysis morphology 90% Abnormality of the nasal alae 90% Coarse facial features 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Otitis media 90% Short stature 90% Sinusitis 90% Thick lower lip vermilion 90% Abnormality of the ribs 50% Genu valgum 50% Hearing impairment 50% Hernia 50% Kyphosis 50% Short neck 50% Splenomegaly 50% Abnormality of the heart valves 7.5% Abnormality of the tongue 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Anterior wedging of L1 - Anterior wedging of L2 - Autosomal recessive inheritance - Broad ribs - Cardiomyopathy - Cervical myelopathy - Depressed nasal bridge - Dermatan sulfate excretion in urine - Disproportionate short-trunk short stature - Dolichocephaly - Dysostosis multiplex - Epiphyseal dysplasia - Flared iliac wings - Glaucoma - Hepatomegaly - Hip dysplasia - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic iliac wing - Inguinal hernia - Joint stiffness - Lumbar hyperlordosis - Macrocephaly - Macroglossia - Metaphyseal irregularity - Metaphyseal widening - Ovoid vertebral bodies - Prominent sternum - Recurrent upper respiratory tract infections - Split hand - Umbilical hernia - 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.