umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Platelet storage pool deficiency ?

Answer: What are the signs and symptoms of Platelet storage pool deficiency? The signs and symptoms of platelet storage pool deficiency vary but may include: Frequent nosebleeds Abnormally heavy or prolonged menstruation Easy bruising Recurrent anemia Abnormal bleeding after surgery, dental work or childbirth The Human Phenotype Ontology provides the following list of signs and symptoms for Platelet storage pool deficiency. 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 bleeding - Acute leukemia - Autosomal dominant inheritance - Decreased mean platelet volume - Myelodysplasia - Prolonged bleeding time - 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 genetic changes related to DOLK-congenital disorder of glycosylation ?

Answer: DOLK-CDG is caused by mutations in the DOLK gene. This gene provides instructions for making the enzyme dolichol kinase, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation changes proteins in ways that are important for their functions. During glycosylation, sugars are added to dolichol phosphate in order to build the oligosaccharide chain. Once the chain is formed, dolichol phosphate transports the oligosaccharide to the protein that needs to be glycosylated and attaches it to a specific site on the protein.  Mutations in the DOLK gene lead to the production of abnormal dolichol kinase with reduced or absent activity. Without properly functioning dolichol kinase, dolichol phosphate is not produced and glycosylation cannot proceed normally. In particular, a protein known to stabilize heart muscle fibers, called alpha-dystroglycan, has been shown to have reduced glycosylation in people with DOLK-CDG. Impaired glycosylation of alpha-dystroglycan disrupts its normal function, which damages heart muscle fibers as they repeatedly contract and relax. Over time, the fibers weaken and break down, leading to dilated cardiomyopathy. The other signs and symptoms of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues.
Question: What are the genetic changes related to rippling muscle disease ?

Answer: Rippling muscle disease can be caused by mutations in the CAV3 gene. Muscle conditions caused by CAV3 gene mutations are called caveolinopathies. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure. It may also help regulate calcium levels in muscle cells, which play a role in controlling muscle contraction and relaxation.  CAV3 gene mutations that cause rippling muscle disease result in a shortage of caveolin-3 protein in the muscle cell membrane. Researchers suggest that the reduction in caveolin-3 protein disrupts the normal control of calcium levels in muscle cells, leading to abnormal muscle contractions in response to stimulation.  In addition to rippling muscle disease, CAV3 gene mutations can cause other caveolinopathies including CAV3-related distal myopathy, limb-girdle muscular dystrophy, isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy. Several CAV3 gene mutations have been found to cause different caveolinopathies in different individuals. It is unclear why a single CAV3 gene mutation may cause different patterns of signs and symptoms, even within the same family.  Some people with rippling muscle disease do not have mutations in the CAV3 gene. The cause of the disorder in these individuals is unknown.
Question: What are the genetic changes related to Dowling-Degos disease ?

Answer: Mutations in the KRT5 gene cause Dowling-Degos disease. The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a family of proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. Keratin 5 is produced in cells called keratinocytes found in the outer layer of the skin (the epidermis). Keratin 5 is one component of molecules called keratin intermediate filaments. These filaments assemble into strong networks that help attach keratinocytes together and anchor the epidermis to underlying layers of skin. Researchers believe that keratin 5 may also play a role in transporting melanosomes, which are cellular structures that produce a pigment called melanin. The transport of these structures into keratinocytes is important for normal skin coloration (pigmentation).  KRT5 gene mutations that cause Dowling-Degos disease lead to a decrease in the amount of functional keratin 5 protein that is produced. A reduction in keratin 5 can impair the formation of keratin intermediate filaments. As a result, the normal organization of the epidermis is altered, leading to the development of different types of skin lesions. Additionally, a decrease in keratin 5 may disrupt the movement of pigment-carrying melanosomes into keratinocytes, where they are needed for normal skin pigmentation. This disruption of melanosome transport is thought to cause the pigmentation abnormalities seen in individuals with Dowling-Degos disease.  Some people with Dowling-Degos disease do not have an identified mutation in the KRT5 gene. In these cases, the cause of the condition is unknown.
Question: What are the symptoms of Penoscrotal transposition ?

Answer: What are the signs and symptoms of Penoscrotal transposition? The Human Phenotype Ontology provides the following list of signs and symptoms for Penoscrotal transposition. 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) Absent facial hair - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Female external genitalia in individual with 46,XY karyotype - Growth abnormality - Gynecomastia - Inguinal hernia - Neoplasm - Primary amenorrhea - Sparse axillary hair - Sparse pubic hair - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Potocki-Shaffer syndrome ?

Answer: Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended.
Question: What are the symptoms of Von Willebrand disease ?

Answer: What are the signs and symptoms of Von Willebrand disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Von Willebrand 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) Aortic valve stenosis - Autosomal dominant inheritance - Bruising susceptibility - Epistaxis - Gastrointestinal angiodysplasia - Gastrointestinal hemorrhage - Impaired platelet aggregation - Incomplete penetrance - Joint hemorrhage - Menorrhagia - Mitral valve prolapse - Prolonged bleeding time - Prolonged whole-blood clotting time - Reduced factor VIII activity - 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 Congenital deafness with vitiligo and achalasia ?

Answer: What are the signs and symptoms of Congenital deafness with vitiligo and achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital deafness with vitiligo and achalasia. 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) EEG abnormality 90% Hypopigmented skin patches 90% Sensorineural hearing impairment 90% Short stature 90% Skeletal muscle atrophy 90% Achalasia - Autosomal recessive inheritance - Hearing impairment - Vitiligo - 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 Hypersensitivity vasculitis ?

Answer: What are the signs and symptoms of Hypersensitivity vasculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypersensitivity vasculitis. 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% Cutis marmorata 90% Gangrene 90% Myalgia 90% Skin ulcer 90% Subcutaneous hemorrhage 90% Urticaria 90% Vasculitis 90% Arthralgia 50% Skin rash 50% Abnormality of the oral cavity 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.
Question: What is (are) Tuberculosis (TB) ?

Answer: The Division of Tuberculosis Elimination (DTBE) Laboratory Branch (LB) provides services for the following tests on mycobacterial cultures. Any local health department, licensed physician's office, licensed laboratory or licensed health care facility may submit cultures for testing but they must be routed through either their state health department or other authorized facility.
  Genotyping
  State or local TB control programs
  
A genotyping laboratory, in Michigan  is under contract with CDC to provide genotyping services to TB programs in the United States. Three genotyping methods to identify TB strains:
  
   - Spoligotyping
   - Mycobacterial interspersed repetitive unit (MIRU) analysis
   - IS6110-based restriction fragment length polymorphism (RFLP) analysis
  
  
For more information, view the Guide to the Application of Genotyping to Tuberculosis Prevention and Control.
  
DTBE epidemiologic investigations and surveillance activities
  
   - The LB provides support for DTBE epidemiologic investigations and surveillance activities. TB genotyping results, when combined with epidemiologic data, help to distinguish TB patients who are involved in the same chain of recent transmission.
  
  Drug susceptibility testing
  
The LB performs drug susceptibility testing for selected Mycobacterium species referred from state or other authorized health facilities. Cultures of mycobacteria are tested by the indirect proportion method with antituberculosis drugs incorporated into 7H10 agar plates.
  
  Additional Resources
Question: What is (are) Aphasia ?

Answer: Aphasia is a neurological disorder caused by damage to the portions of the brain that are responsible for language production or processing. It may occur suddenly or progressively, depending on the type and location of brain tissue involved. Primary signs of the disorder include difficulty in expressing oneself when speaking, trouble understanding speech, and difficulty with reading and writing. Aphasia is not a disease, but a symptom of brain damage. Although it is primarily seen in individuals who have suffered a stroke, aphasia can also result from a brain tumor, infection, inflammation, head injury, or dementia that affect language-associated regions of the brain. It is estimated that about 1 million people in the United States today suffer from aphasia. The type and severity of language dysfunction depends on the precise location and extent of the damaged brain tissue.
                
Generally, aphasia can be divided into four broad categories: (1) Expressive aphasia (also called Broca's aphasia) involves difficulty in conveying thoughts through speech or writing. The person knows what she/he wants to say, but cannot find the words he needs. (2) Receptive aphasia (Wernicke's aphasia) involves difficulty understanding spoken or written language. The individual hears the voice or sees the print but cannot make sense of the words. (3) Global aphasia results from severe and extensive damage to the language areas of the brain. People lose almost all language function, both comprehension and expression. They cannot speak or understand speech, nor can they read or write. (4) Indiivfduals with anomic or amnesia aphasia, the least severe form of aphasia, have difficulty in using the correct names for particular objects, people, places, or events.
Question: What are the genetic changes related to episodic ataxia ?

Answer: Episodic ataxia can be caused by mutations in several genes that play important roles in the nervous system. Three of these genes, KCNA1, CACNA1A, and CACNB4, provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. Mutations in the KCNA1, CACNA1A, and CACNB4 genes are responsible for episodic ataxia types 1, 2, and 5, respectively.  Mutations in the SLC1A3 gene have been found to cause episodic ataxia type 6. This gene provides instructions for making a protein that transports a brain chemical (neurotransmitter) called glutamate. Neurotransmitters, including glutamate, allow neurons to communicate by relaying chemical signals from one neuron to another.  Researchers believe that mutations in the KCNA1, CACNA1A, CACNB4, and SLC1A3 genes alter the transport of ions and glutamate in the brain, which causes certain neurons to become overexcited and disrupts normal communication between these cells. Although changes in chemical signaling in the brain underlie the recurrent attacks seen in people with episodic ataxia, it is unclear how mutations in these genes cause the specific features of the disorder.  The genetic causes of episodic ataxia types 3, 4, and 7 have not been identified. Researchers are looking for additional genes that can cause episodic ataxia.
Question: What is (are) Nager syndrome ?

Answer: Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.  Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth called a cleft palate. These abnormalities frequently cause feeding problems in infants with Nager syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems.  People with Nager syndrome often have eyes that slant downward, absent eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small or unusually formed ears, and about 60 percent have hearing loss caused by defects in the middle ear (conductive hearing loss). Nager syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment.  Individuals with Nager syndrome have bone abnormalities in their hands and arms. The most common abnormality is malformed or absent thumbs. Affected individuals may also have fingers that are unusually curved (clinodactyly) or fused together (syndactyly). Their forearms may be shortened due to the partial or complete absence of a bone called the radius. People with Nager syndrome sometimes have difficulty fully extending their elbows. This condition can also cause bone abnormalities in the legs and feet.  Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, and urinary tract.
Question: What are the genetic changes related to intranuclear rod myopathy ?

Answer: Intranuclear rod myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made up of actin molecules and thick filaments made up of another protein called myosin are the primary components of muscle fibers and are important for muscle contraction. Attachment (binding) and release of the overlapping thick and thin filaments allows them to move relative to each other so that the muscles can contract.  ACTA1 gene mutations that cause intranuclear rod myopathy result in the accumulation of rods of skeletal -actin in the nucleus of muscle cells. Normally, most actin is found in the fluid surrounding the nucleus (the cytoplasm), with small amounts in the nucleus itself. Researchers suggest that the ACTA1 gene mutations that cause intranuclear rod myopathy may interfere with the normal transport of actin between the nucleus and the cytoplasm, resulting in the accumulation of actin in the nucleus and the formation of intranuclear rods. Abnormal accumulation of actin in the nucleus of muscle cells and a corresponding reduction of available actin in muscle fibers may impair muscle contraction and lead to the muscle weakness seen in intranuclear rod myopathy.  In some people with intranuclear rod myopathy, no ACTA1 gene mutations have been identified. The cause of the disorder in these individuals is unknown.