umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Osteogenesis imperfecta type VI ?

Answer: What are the signs and symptoms of Osteogenesis imperfecta type VI? Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology).  People with this condition have bones that are thin (osteopenia) and break easily beginning  after 6 months of age.  A defect in how the bone uses minerals to build and strengthen bone (mineralization) causes a distinct "fish-scale" pattern.  Unlike other types of osteogenesis imperfecta, the whites of the eyes (sclerae) and teeth do not appear to be affected. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VI. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Beaking of vertebral bodies - Biconcave vertebral bodies - Coxa vara - Increased susceptibility to fractures - Ligamentous laxity - Protrusio acetabuli - Vertebral compression fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the genetic changes related to beta-ureidopropionase deficiency ?

Answer: Beta-ureidopropionase deficiency is caused by mutations in the UPB1 gene, which provides instructions for making an enzyme called beta-ureidopropionase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA.  The beta-ureidopropionase enzyme is involved in the last step of the process that breaks down pyrimidines. This step converts N-carbamyl-beta-aminoisobutyric acid to beta-aminoisobutyric acid and also breaks down N-carbamyl-beta-alanine to beta-alanine, ammonia, and carbon dioxide. Both beta-aminoisobutyric acid and beta-alanine are thought to play roles in the nervous system. Beta-aminoisobutyric acid increases the production of a protein called leptin, which has been found to help protect brain cells from damage caused by toxins, inflammation, and other factors. Research suggests that beta-alanine is involved in sending signals between nerve cells (synaptic transmission) and in controlling the level of a chemical messenger (neurotransmitter) called dopamine.  UPB1 gene mutations can reduce or eliminate beta-ureidopropionase enzyme activity. Loss of this enzyme function reduces the production of beta-aminoisobutyric acid and beta-alanine, and leads to an excess of their precursor molecules, N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine, which are released in the urine. Reduced production of beta-aminoisobutyric acid and beta-alanine may impair the function of these molecules in the nervous system, leading to neurological problems in some people with beta-ureidopropionase deficiency. The extent of the reduction in enzyme activity caused by a particular UPB1 gene mutation, along with other genetic and environmental factors, may determine whether people with beta-ureidopropionase deficiency develop neurological problems and the severity of these problems.
Question: What is (are) branchiootorenal/branchiootic syndrome ?

Answer: Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).  "Branchio-" refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. Some affected people have abnormal holes or pits called fistulae in the side of the neck just above the collarbone. Fistulae can form tunnels into the neck, exiting in the mouth near the tonsil. Branchial cleft cysts and fistulae can cause health problems if they become infected, so they are often removed surgically.  "Oto-" and "-otic" refer to the ear; most people with BOR/BO syndrome have hearing loss and other ear abnormalities. The hearing loss can be sensorineural, meaning it is caused by abnormalities in the inner ear; conductive, meaning it results from changes in the small bones in the middle ear; or mixed, meaning it is caused by a combination of inner ear and middle ear abnormalities. Some affected people have tiny holes in the skin or extra bits of tissue just in front of the ear. These are called preauricular pits and preauricular tags, respectively.  "Renal" refers to the kidneys; BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.
Question: What are the genetic changes related to D-bifunctional protein deficiency ?

Answer: D-bifunctional protein deficiency is caused by mutations in the HSD17B4 gene. The protein produced from this gene (D-bifunctional protein) is an enzyme, which means that it helps specific biochemical reactions to take place. The D-bifunctional protein is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The D-bifunctional protein is involved in the breakdown of certain molecules called fatty acids. The protein has two separate regions (domains) with enzyme activity, called the hydratase and dehydrogenase domains. These domains help carry out the second and third steps, respectively, of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the fatty acid molecules by two carbon atoms at a time until the fatty acids are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell.  HSD17B4 gene mutations that cause D-bifunctional protein deficiency can affect one or both of the protein's functions; however, this distinction does not seem to affect the severity or features of the disorder. Impairment of one or both of the protein's enzymatic activities prevents the D-bifunctional protein from breaking down fatty acids efficiently. As a result, these fatty acids accumulate in the body. It is unclear how fatty acid accumulation leads to the specific neurological and non-neurological features of D-bifunctional protein deficiency. However, the accumulation may result in abnormal development of the brain and the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Abnormal brain development and leukodystrophy likely underlie the neurological abnormalities that occur in D-bifunctional protein deficiency.
Question: What are the symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism ?

Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease with ptosis and parkinsonism. 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 atrioventricular conduction - Atrioventricular block - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal loss - Central hypoventilation - Chronic diarrhea - Chronic sensorineural polyneuropathy - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Dementia - Distal amyotrophy - Enhanced neurotoxicity of vincristine - Gliosis - Hyperhidrosis - Hyperreflexia - Nausea - Orthostatic hypotension - Parkinsonism - Penetrating foot ulcers - Peroneal muscle atrophy - Peroneal muscle weakness - Pes cavus - Ptosis - Sensory neuropathy - Trophic limb changes - Vomiting - X-linked 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 are the symptoms of Cataract and cardiomyopathy ?

Answer: What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Hypertrophic cardiomyopathy 90% Myopathy 90% Nystagmus 90% Strabismus 90% Myopia 50% Abnormal electroretinogram 7.5% Corneal dystrophy 7.5% Glaucoma 7.5% Thrombocytopenia 5% 3-Methylglutaconic aciduria - Autosomal recessive inheritance - Congenital cataract - Easy fatigability - Exercise intolerance - Exercise-induced lactic acidemia - Fatigue - Growth delay - Increased serum lactate - Infantile onset - Mitochondrial myopathy - Motor delay - Muscle weakness - Muscular hypotonia - Respiratory insufficiency - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Langerhans cell histiocytosis ?

Answer: What are the signs and symptoms of Langerhans cell histiocytosis? Symptoms of Langerhans cell histiocytosis (LCH) can vary greatly from person to person depending on how much of the body is involved and what part(s) are affected. The disease can affect virtually every organ, including skin, bones, lymph nodes, bone marrow, liver, spleen, lungs, gastrointestinal tract, thymus, central nervous system, and hormone glands. The symptoms may range from localized bone lesions or skin disease to multiple organ involvement and severe dysfunction. Below are the organs that may be affected as well as the symptoms that might be observed: Skin - Red, scaly papules in areas where opposing skin surfaces touch or rub (e.g. skin folds) are commonly seen in LCH. Infants with the skin presentation on the scalp are often misdiagnosed with cradle cap. The skin symptoms usually improve without treatment. Bone - Lesions that cause bone destruction are common, with the skull, lower limbs, ribs, pelvis, and vertebrae usually being affected. Symptoms may include pain, swelling, limited motion, and inability to bear weight. Lymph node - Lymph node involvement may be limited or associated with a skin or bone lesion or disseminated disease. Although any of the lymph nodes may be affected, the cervical lymph nodes are where the disease commonly occurs. Individuals usually only present with pain of the lymph node affected. If only one lymph node is affected, prognosis is normally good and treatment is unnecessary. Liver - Liver involvement at the time of diagnosis is generally associated with more severe disease. Symptoms may include ascites, jaundice, low levels of protein, and prolonged clotting time. Central nervous system (CNS) and hormone - CNS involvement is rare and may be devastating. The most common result of CNS involvement is the altering of hormonal function, with some individuals developing diabetes insipidus. More detailed information about the symptoms of LCH can be accessed through the Histiocytosis Association's website.
Question: What are the symptoms of Gorham's disease ?

Answer: What are the signs and symptoms of Gorham's disease? Most cases of Gorham's disease are discovered before the age of 40. Symptoms vary among affected people and depend on the area of the body involved. The most commonly involved sites are the skull, jaw, shoulder, rib cage, and pelvis. The degree of complications ranges from mild to severe, or even life-threatening. In some cases, affected people may rapidly develop pain and swelling in the affected area, or a fracture on the affected site. Others may experience a dull pain or ache, limitation of motion, or generalized weakness that builds over time. Some people don't have any symptoms. Complications from Gorham's disease may occur when fluids build-up in the space between the membrane that surround each lung and line the chest cavity (pleural effusion). This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure. The Human Phenotype Ontology provides the following list of signs and symptoms for Gorham's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cystic angiomatosis of bone - 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 complications of Cyclic Vomiting Syndrome ?

Answer: The severe vomiting and retching that define cyclic vomiting syndrome increase the chance of developing several complications, including dehydration, esophagitis, a Mallory-Weiss tear, and tooth decay.
                
- Dehydration may occur when a person does not replace fluids that were lost because of vomiting and diarrhea. When dehydrated, the body lacks enough fluid and electrolytesminerals in salts, including sodium, potassium, and chlorideto function properly. Severe dehydration may require intravenous (IV) fluids and hospitalization.  - Esophagitisinflammation or irritation of the esophaguscan result from the stomach acid that exits through the esophagus during vomiting.  - A Mallory-Weiss teara tear in the lower end of the esophagusis caused by severe vomiting. A person with bloody vomit and stool should see a health care provider right away.  - Tooth decay or corroding tooth enamel is damage caused by stomach acid.
                

                
Seek Help for Signs or Symptoms of Severe Dehydration   People who have any signs or symptoms of severe dehydration should call or see a health care provider right away:   - excessive thirst   - dark-colored urine   - infrequent urination   - lethargy, dizziness, or faintness   - dry skin    Infants, children, older adults, and people with weak immune systems have the greatest chance of becoming dehydrated. People should watch for the following signs and symptoms of dehydration in infants, young children, and people who are unable to communicate their symptoms:   - dry mouth and tongue   - lack of tears when crying   - infants with no wet diapers for 3 hours or more   - infants with a sunken soft spot   - unusually cranky or drowsy behavior   - sunken eyes or cheeks   - fever    If left untreated, severe dehydration can cause serious health problems, such as organ damage, shock, or comaa sleeplike state in which a person is not conscious.
Question: What are the symptoms of Gastrointestinal Carcinoid Tumors ?

Answer: Some gastrointestinal carcinoid tumors have no signs or symptoms in the early stages.Signs and symptoms may be caused by the growth of the tumor and/or the hormones the tumor makes. Some tumors, especially tumors of the stomach or appendix, may not cause signs or symptoms. Carcinoid tumors are often found during tests or treatments for other conditions.    Carcinoid tumors in the small intestine (duodenum, jejunum, and ileum), colon, and rectum sometimes cause signs or symptoms as they grow or because of the hormones they make. Other conditions may cause the same signs or symptoms. Check with your doctor if you have any of the following:         -  Duodenum  Signs and symptoms of GI carcinoid tumors in the duodenum (first part of the small intestine, that connects to the stomach) may include the following:                  -  Abdominal pain.       -  Constipation.       -  Diarrhea.       - Change in stool color.       -  Nausea.       -  Vomiting.       -  Jaundice (yellowing of the skin and whites of the eyes).       - Heartburn.                -  Jejunum and ileum  Signs and symptoms of GI carcinoid tumors in the jejunum (middle part of the small intestine) and ileum (last part of the small intestine, that connects to the colon) may include the following:                  -  Abdominal pain.       - Weight loss for no known reason.       - Feeling very tired.       - Feeling bloated       -  Diarrhea.       -  Nausea.       - Vomiting.                -  Colon  Signs and symptoms of GI carcinoid tumors in the colon may include the following:                  - Abdominal pain.       - Weight loss for no known reason.                -  Rectum  Signs and symptoms of GI carcinoid tumors in the rectum may include the following:                  -  Blood in the stool.       - Pain in the rectum.       -  Constipation.
Question: What are the symptoms of Giant axonal neuropathy ?

Answer: What are the signs and symptoms of Giant axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant axonal neuropathy. 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) Intellectual disability 5% Abnormal pyramidal signs - Abnormality of the cerebellum - Abnormality of the hand - Areflexia of lower limbs - Autosomal recessive inheritance - Curly hair - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Dysarthria - Facial palsy - Hyperreflexia - Hyporeflexia of lower limbs - Juvenile onset - Morphological abnormality of the pyramidal tract - Motor axonal neuropathy - Nystagmus - Pes cavus - Pes planus - Phenotypic variability - Proximal muscle weakness - Scoliosis - Sensory axonal neuropathy - Slow progression - Spastic paraplegia - Steppage gait - Talipes equinovarus - 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.