Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What is (are) isolated Duane retraction syndrome ?
Answer: Isolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. About 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands. Researchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and III. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward.
Question: How many people are affected by isolated Duane retraction syndrome ?
Answer: Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people worldwide. This condition accounts for 1 percent to 5 percent of all cases of abnormal eye alignment (strabismus). For unknown reasons, isolated Duane syndrome affects females more often than males.
Question: What are the genetic changes related to isolated Duane retraction syndrome ?
Answer: In most people with isolated Duane retraction syndrome, the cause of the condition is unknown. However, researchers have identified mutations in one gene, CHN1, that cause the disorder in a small number of families. The CHN1 gene provides instructions for making a protein that is involved in the early development of the nervous system. Specifically, the protein appears to be critical for the formation of nerves that control several of the muscles surrounding the eyes (extraocular muscles). Mutations in the CHN1 gene disrupt the normal development of these nerves and the extraocular muscles needed for side-to-side eye movement. Abnormal function of these muscles leads to restricted eye movement and related problems with vision.
Question: Is isolated Duane retraction syndrome inherited ?
Answer: Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. These cases are described as simplex, and their genetic cause is unknown. Less commonly, isolated Duane retraction syndrome can run in families. Familial cases most often have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When isolated Duane retraction syndrome is caused by CHN1 mutations, it has an autosomal dominant inheritance pattern. In a few families with isolated Duane retraction syndrome, the pattern of affected family members suggests autosomal recessive inheritance. In these families, one or more children are affected, although the parents typically have no signs or symptoms of the condition. The parents of children with an autosomal recessive condition are called carriers, which means they carry one mutated copy of a gene in each cell. In affected children, both copies of the gene in each cell are mutated. However, researchers have not discovered the gene or genes responsible for autosomal recessive isolated Duane retraction syndrome.
Question: What are the treatments for isolated Duane retraction syndrome ?
Answer: These resources address the diagnosis or management of isolated Duane retraction syndrome: - Gene Review: Gene Review: Duane Syndrome - Genetic Testing Registry: Duane's syndrome - MedlinePlus Encyclopedia: Extraocular Muscle Function Testing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) autosomal recessive hypotrichosis ?
Answer: Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair. Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.
Question: How many people are affected by autosomal recessive hypotrichosis ?
Answer: The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals.
Question: What are the genetic changes related to autosomal recessive hypotrichosis ?
Answer: Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. These cell processes are important for the normal development of hair follicles and for hair growth; as the cells in the hair follicle divide, the hair strand (shaft) is pushed upward and extends beyond the skin, causing the hair to grow. The proteins produced from the LIPH, LPAR6, and DSG4 genes are also found in the outermost layer of skin (the epidermis) and glands in the skin that produce a substance that protects the skin and hair (sebaceous glands). Mutations in the LIPH, LPAR6, or DSG4 gene result in the production of abnormal proteins that cannot aid in the development of hair follicles. As a result, hair follicles are structurally abnormal and often underdeveloped. Irregular hair follicles alter the structure and growth of hair shafts, leading to woolly, fragile hair that is easily broken. A lack of these proteins in the epidermis likely contributes to the skin problems sometimes seen in affected individuals. In some areas of the body, other proteins can compensate for the function of the missing protein, so not all areas with hair are affected and not all individuals have skin problems.
Question: Is autosomal recessive hypotrichosis inherited ?
Answer: This condition 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.
Question: What are the treatments for autosomal recessive hypotrichosis ?
Answer: These resources address the diagnosis or management of autosomal recessive hypotrichosis: - American Academy of Dermatology: Hair Loss: Tips for Managing - Genetic Testing Registry: Hypotrichosis 8 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: How many people are affected by multiple lentigines syndrome ?
Answer: Multiple lentigines syndrome is thought to be a rare condition; approximately 200 cases have been reported worldwide.
Question: What are the genetic changes related to multiple lentigines syndrome ?
Answer: Mutations in the PTPN11, RAF1, or BRAF genes cause multiple lentigines syndrome. Approximately 90 percent of individuals with multiple lentigines syndrome have mutations in the PTPN11 gene. RAF1 and BRAF gene mutations are responsible for a total of about 10 percent of cases. A small proportion of people with multiple lentigines syndrome do not have an identified mutation in any of these three genes. In these individuals, the cause of the condition is unknown. The PTPN11, RAF1, and BRAF genes all provide instructions for making proteins that are involved in important signaling pathways needed for the proper formation of several types of tissue during development. These proteins also play roles in the regulation of cell division, cell movement (migration), and cell differentiation (the process by which cells mature to carry out specific functions). Mutations in the PTPN11, RAF1, or BRAF genes lead to the production of a protein that functions abnormally. This abnormal functioning impairs the protein's ability to respond to cell signals. A disruption in the regulation of systems that control cell growth and division leads to the characteristic features of multiple lentigines syndrome.
Question: Is multiple lentigines syndrome inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Question: What are the treatments for multiple lentigines syndrome ?
Answer: These resources address the diagnosis or management of multiple lentigines syndrome: - Cincinnati Children's Hospital: Cardiomyopathies - Gene Review: Gene Review: Noonan Syndrome with Multiple Lentigines - Genetic Testing Registry: LEOPARD syndrome 1 - Genetic Testing Registry: LEOPARD syndrome 2 - Genetic Testing Registry: LEOPARD syndrome 3 - Genetic Testing Registry: Noonan syndrome with multiple lentigines - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) sickle cell disease ?
Answer: Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications. The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.
Question: How many people are affected by sickle cell disease ?
Answer: Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central America, and parts of the Caribbean. Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans. The disease is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans.
Question: What are the genetic changes related to sickle cell disease ?
Answer: Mutations in the HBB gene cause sickle cell disease. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. The HBB gene provides instructions for making beta-globin. Various versions of beta-globin result from different mutations in the HBB gene. One particular HBB gene mutation produces an abnormal version of beta-globin known as hemoglobin S (HbS). Other mutations in the HBB gene lead to additional abnormal versions of beta-globin such as hemoglobin C (HbC) and hemoglobin E (HbE). HBB gene mutations can also result in an unusually low level of beta-globin; this abnormality is called beta thalassemia. In people with sickle cell disease, at least one of the beta-globin subunits in hemoglobin is replaced with hemoglobin S. In sickle cell anemia, which is a common form of sickle cell disease, hemoglobin S replaces both beta-globin subunits in hemoglobin. In other types of sickle cell disease, just one beta-globin subunit in hemoglobin is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal variant, such as hemoglobin C. For example, people with sickle-hemoglobin C (HbSC) disease have hemoglobin molecules with hemoglobin S and hemoglobin C instead of beta-globin. If mutations that produce hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S-beta thalassemia (HbSBetaThal) disease. Abnormal versions of beta-globin can distort red blood cells into a sickle shape. The sickle-shaped red blood cells die prematurely, which can lead to anemia. Sometimes the inflexible, sickle-shaped cells get stuck in small blood vessels and can cause serious medical complications.
Question: Is sickle cell disease inherited ?
Answer: This condition 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.
Question: What are the treatments for sickle cell disease ?
Answer: These resources address the diagnosis or management of sickle cell disease: - Baby's First Test: S, Beta-Thalassemia - Baby's First Test: S, C Disease - Baby's First Test: Sickle Cell Anemia - Gene Review: Gene Review: Sickle Cell Disease - Genetic Testing Registry: Hb SS disease - Genomics Education Programme (UK) - Howard University Hospital Center for Sickle Cell Disease - MedlinePlus Encyclopedia: Sickle Cell Anemia - MedlinePlus Encyclopedia: Sickle Cell Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) beta-mannosidosis ?
Answer: Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas).
Question: How many people are affected by beta-mannosidosis ?
Answer: Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed.
Question: What are the genetic changes related to beta-mannosidosis ?
Answer: Mutations in the MANBA gene cause beta-mannosidosis. The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose. Mutations in the MANBA gene interfere with the ability of the beta-mannosidase enzyme to perform its role in breaking down mannose-containing disaccharides. These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis.
Question: Is beta-mannosidosis inherited ?
Answer: This condition 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.
Question: What are the treatments for beta-mannosidosis ?
Answer: These resources address the diagnosis or management of beta-mannosidosis: - Genetic Testing Registry: Beta-D-mannosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) hyperphosphatemic familial tumoral calcinosis ?
Answer: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Calcinosis usually occurs in and just under skin tissue around the joints, most often the hips, shoulders, and elbows. Calcinosis may also develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis occurs in blood vessels or in the brain and can cause serious health problems. The deposits develop over time and vary in size. Larger deposits form masses that are noticeable under the skin and can interfere with the function of joints and impair movement. These large deposits may appear tumor-like (tumoral), but they are not tumors or cancerous. The number and frequency of deposits varies among affected individuals; some develop few deposits during their lifetime, while others may develop many in a short period of time. Other features of HFTC include eye abnormalities such as calcium buildup in the clear front covering of the eye (corneal calcification) or angioid streaks that occur when tiny breaks form in the layer of tissue at the back of the eye called Bruch's membrane. Inflammation of the long bones (diaphysis) or excessive bone growth (hyperostosis) may occur. Some affected individuals have dental abnormalities. In males, small crystals of cholesterol can accumulate (microlithiasis) in the testicles, which usually causes no health problems. A similar condition called hyperphosphatemia-hyperostosis syndrome (HHS) results in increased levels of phosphate in the blood, excessive bone growth, and bone lesions. This condition used to be considered a separate disorder, but it is now thought to be a mild variant of HFTC.
Question: How many people are affected by hyperphosphatemic familial tumoral calcinosis ?
Answer: The prevalence of HFTC is unknown, but it is thought to be a rare condition. It occurs most often in Middle Eastern and African populations.
Question: What are the genetic changes related to hyperphosphatemic familial tumoral calcinosis ?
Answer: Mutations in the FGF23, GALNT3, or KL gene cause HFTC. The proteins produced from these genes are all involved in the regulation of phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The kidneys normally rid the body of excess phosphate by excreting it in urine, and they reabsorb this mineral into the bloodstream when more is needed. The FGF23 gene provides instructions for making a protein called fibroblast growth factor 23, which is produced in bone cells and signals the kidneys to stop reabsorbing phosphate. The proteins produced from the GALNT3 and KL genes help to regulate fibroblast growth factor 23. The protein produced from the GALNT3 gene, called ppGalNacT3, attaches sugar molecules to fibroblast growth factor 23 in a process called glycosylation. Glycosylation allows fibroblast growth factor 23 to move out of the cell and protects the protein from being broken down. Once outside the bone cell, fibroblast growth factor 23 must attach (bind) to a receptor protein that spans the membrane of kidney cells. The protein produced from the KL gene, called alpha-klotho, turns on (activates) the receptor protein so that fibroblast growth factor 23 can bind to it. Binding of fibroblast growth factor 23 to its receptor stimulates signaling that stops phosphate reabsorption into the bloodstream. Mutations in the FGF23, GALNT3, or KL gene lead to a disruption in fibroblast growth factor 23 signaling. FGF23 gene mutations result in the production of a protein with decreased function that quickly gets broken down. Mutations in the GALNT3 gene result in the production of ppGalNacT3 protein with little or no function. As a result, the protein cannot glycosylate fibroblast growth factor 23, which is consequently trapped inside the cell and broken down rather than being released from the cell (secreted). KL gene mutations lead to a shortage of functional alpha-klotho. As a result, the receptor protein is not activated, causing it to be unavailable to be bound to fibroblast growth factor 23. All of these impairments to fibroblast growth factor 23 function and signaling lead to increased phosphate absorption by the kidneys. Calcinosis results when the excess phosphate combines with calcium to form deposits that build up in soft tissues. Although phosphate levels are increased, calcium is typically within the normal range.
Question: Is hyperphosphatemic familial tumoral calcinosis inherited ?
Answer: This condition 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.
Question: What are the treatments for hyperphosphatemic familial tumoral calcinosis ?
Answer: These resources address the diagnosis or management of hyperphosphatemic familial tumoral calcinosis: - Genetic Testing Registry: Tumoral calcinosis, familial, hyperphosphatemic These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care