Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the genetic changes related to familial adenomatous polyposis ?
Answer: Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. Although most people with mutations in the APC gene will develop colorectal cancer, the number of polyps and the time frame in which they become malignant depend on the location of the mutation in the gene. Mutations in the MUTYH gene cause autosomal recessive familial adenomatous polyposis (also called MYH-associated polyposis). Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer.
Question: Is familial adenomatous polyposis inherited ?
Answer: Familial adenomatous polyposis can have different inheritance patterns. When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Question: What are the treatments for familial adenomatous polyposis ?
Answer: These resources address the diagnosis or management of familial adenomatous polyposis: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Review: Gene Review: APC-Associated Polyposis Conditions - Gene Review: Gene Review: MUTYH-Associated Polyposis - GeneFacts: Familial Adenomatous Polyposis: Diagnosis - GeneFacts: Familial Adenomatous Polyposis: Management - Genetic Testing Registry: Desmoid disease, hereditary - Genetic Testing Registry: Familial adenomatous polyposis 1 - Genetic Testing Registry: Familial multiple polyposis syndrome - Genetic Testing Registry: MYH-associated polyposis - Genomics Education Programme (UK): Familial Adenomatous Polyposis - Genomics Education Programme (UK): MYH-Associated Polyposis - MedlinePlus Encyclopedia: Colon Cancer - MedlinePlus Encyclopedia: Colorectal polyps - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes 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) Lesch-Nyhan syndrome ?
Answer: Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones. The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.
Question: How many people are affected by Lesch-Nyhan syndrome ?
Answer: The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations.
Question: What are the genetic changes related to Lesch-Nyhan syndrome ?
Answer: Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. The HPRT1 gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. Recycling purines ensures that cells have a plentiful supply of building blocks for the production of DNA and RNA. HPRT1 gene mutations that cause Lesch-Nyhan syndrome result in a severe shortage (deficiency) or complete absence of hypoxanthine phosphoribosyltransferase 1. When this enzyme is lacking, purines are broken down but not recycled, producing abnormally high levels of uric acid. For unknown reasons, a deficiency of hypoxanthine phosphoribosyltransferase 1 is associated with low levels of a chemical messenger in the brain called dopamine. Dopamine transmits messages that help the brain control physical movement and emotional behavior, and its shortage may play a role in the movement problems and other features of this disorder. However, it is unclear how a shortage of hypoxanthine phosphoribosyltransferase 1 causes the neurological and behavioral problems characteristic of Lesch-Nyhan syndrome. Some people with HPRT1 gene mutations produce some functional enzyme. These individuals are said to have Lesch-Nyhan variant. The signs and symptoms of Lesch-Nyhan variant are often milder than those of Lesch-Nyhan syndrome and do not include self-injury.
Question: Is Lesch-Nyhan syndrome inherited ?
Answer: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: What are the treatments for Lesch-Nyhan syndrome ?
Answer: These resources address the diagnosis or management of Lesch-Nyhan syndrome: - Gene Review: Gene Review: Lesch-Nyhan Syndrome - Genetic Testing Registry: Lesch-Nyhan syndrome - MedlinePlus Encyclopedia: Lesch-Nyhan Syndrome - MedlinePlus Encyclopedia: Uric Acid Crystals 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) Warsaw breakage syndrome ?
Answer: Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks. Other common features include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and heart malformations.
Question: How many people are affected by Warsaw breakage syndrome ?
Answer: Warsaw breakage syndrome is a rare condition; at least four cases have been described in the medical literature.
Question: What are the genetic changes related to Warsaw breakage syndrome ?
Answer: Mutations in the DDX11 gene cause Warsaw breakage syndrome. The DDX11 gene provides instructions for making an enzyme called ChlR1. This enzyme functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA and any mistakes that are made when DNA is copied. In addition, after DNA is copied, ChlR1 plays a role in ensuring proper separation of each chromosome during cell division. By helping repair mistakes in DNA and ensuring proper DNA replication, the ChlR1 enzyme is involved in maintaining the stability of a cell's genetic information. DDX11 gene mutations severely reduce or completely eliminate ChlR1 enzyme activity. As a result, the enzyme cannot bind to DNA and cannot unwind the DNA strands to help with DNA replication and repair. A lack of functional ChlR1 impairs cell division and leads to an accumulation of DNA damage. This DNA damage can appear as breaks in the DNA, giving the condition its name. It is unclear how these problems in DNA maintenance lead to the specific abnormalities characteristic of Warsaw breakage syndrome.
Question: Is Warsaw breakage syndrome 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 Warsaw breakage syndrome ?
Answer: These resources address the diagnosis or management of Warsaw breakage syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children - Genetic Testing Registry: Warsaw breakage syndrome - MedlinePlus Encyclopedia: Hearing Loss--Infants 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 hyper-IgE syndrome ?
Answer: Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune system. A hallmark feature of the condition is recurrent infections that are severe and can be life-threatening. Skin infections can be caused by bacteria, viruses, or fungi. These infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with AR-HIES also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with AR-HIES include an inflammatory skin disorder called eczema, food or environmental allergies, and asthma. In some affected individuals, the immune system malfunctions and attacks the body's own tissues and organs, causing autoimmune disease. For example, autoimmunity can lead to abnormal destruction of red blood cells (hemolytic anemia) in people with AR-HIES. AR-HIES is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood; the levels are more than 10 times higher than normal. IgE normally triggers an immune response against foreign invaders in the body, particularly parasitic worms, and plays a role in allergies. It is unclear why people with AR-HIES have such high levels of this protein. People with AR-HIES also have highly elevated numbers of certain white blood cells called eosinophils (hypereosinophilia). Eosinophils aid in the immune response and are involved in allergic reactions. Some people with AR-HIES have neurological problems, such as paralysis that affects the face or one side of the body (hemiplegia). Blockage of blood flow in the brain or abnormal bleeding in the brain, both of which can lead to stroke, can also occur in AR-HIES. People with AR-HIES have a greater-than-average risk of developing cancer, particularly cancers of the blood or skin.
Question: How many people are affected by autosomal recessive hyper-IgE syndrome ?
Answer: AR-HIES is a rare disorder whose prevalence is unknown.
Question: What are the genetic changes related to autosomal recessive hyper-IgE syndrome ?
Answer: AR-HIES is usually caused by mutations in the DOCK8 gene. The protein produced from this gene plays a critical role in the survival and function of several types of immune system cells. One of the protein's functions is to help maintain the structure and integrity of immune cells called T cells and NK cells, which recognize and attack foreign invaders, particularly as these cells travel to sites of infection within the body. In addition, DOCK8 is involved in chemical signaling pathways that stimulate other immune cells called B cells to mature and produce antibodies, which are specialized proteins that attach to foreign particles and germs, marking them for destruction. DOCK8 gene mutations result in the production of little or no functional DOCK8 protein. Shortage of this protein impairs normal immune cell development and function. It is thought that T cells and NK cells lacking DOCK8 cannot maintain their shape as they move through dense spaces, such as those found within the skin. The abnormal cells die, resulting in reduced numbers of these cells. A shortage of these immune cells impairs the immune response to foreign invaders, accounting for the severe viral skin infections common in AR-HIES. A lack of DOCK8 also impairs B cell maturation and the production of antibodies. A lack of this type of immune response leads to recurrent respiratory tract infections in people with this disorder. It is unclear how DOCK8 gene mutations are involved in other features of AR-HIES, such as the elevation of IgE levels, autoimmunity, and neurological problems. Some people with AR-HIES do not have mutations in the DOCK8 gene. The genetic cause of the condition in these individuals is unknown.
Question: Is autosomal recessive hyper-IgE syndrome 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 hyper-IgE syndrome ?
Answer: These resources address the diagnosis or management of autosomal recessive hyper-IgE syndrome: - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperimmunoglobulin E Syndrome - Merck Manual Professional Version: Hyperimmunoglobulin E Syndrome - PID UK: Hyperimmunoglobulin E Syndromes Treatment and Immunizations 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) giant congenital melanocytic nevus ?
Answer: Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow at the same rate the body grows and will eventually be at least 40 cm (15.75 inches) across. The nevus can appear anywhere on the body, but it is more often found on the trunk or limbs. The color ranges from tan to black and can become darker or lighter over time. The surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface can vary in different regions of the nevus, and it can change over time. The skin of the nevus is often dry and prone to irritation and itching (dermatitis). Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body. People with giant congenital melanocytic nevus may have more than one nevus (plural: nevi). The other nevi are often smaller than the giant nevus. Affected individuals may have one or two additional nevi or multiple small nevi that are scattered over the skin; these are known as satellite or disseminated nevi. Affected individuals may feel anxiety or emotional stress due to the impact the nevus may have on their appearance and their health. Children with giant congenital melanocytic nevus can develop emotional or behavior problems. Some people with giant congenital melanocytic nevus develop a condition called neurocutaneous melanosis, which is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and spinal cord. These melanocytes may be spread out or grouped together in clusters. Their growth can cause increased pressure in the brain, leading to headache, vomiting, irritability, seizures, and movement problems. Tumors in the brain may also develop. Individuals with giant congenital melanocytic nevus have an increased risk of developing an aggressive form of cancer called melanoma, which arises from melanocytes. Estimates vary, but it is generally thought that people with giant congenital melanocytic nevus have a 5 to 10 percent lifetime risk of developing melanoma. Melanoma commonly begins in the nevus, but it can develop when melanocytes that invade other tissues, such as those in the brain and spinal cord, become cancerous. When melanoma occurs in people with giant congenital melanocytic nevus, the survival rate is low. Other types of tumors can also develop in individuals with giant congenital melanocytic nevus, including soft tissue tumors (sarcomas), fatty tumors (lipomas), and tumors of the nerve cells (schwannomas).
Question: How many people are affected by giant congenital melanocytic nevus ?
Answer: Giant congenital melanocytic nevus occurs in approximately 1 in 20,000 newborns worldwide.
Question: What are the genetic changes related to giant congenital melanocytic nevus ?
Answer: NRAS gene mutations cause most cases of giant congenital melanocytic nevus. Rarely, mutations in the BRAF gene are responsible for this condition. The proteins produced from these genes are involved in a process known as signal transduction by which signals are relayed from outside the cell to the cell's nucleus. Signals relayed by the N-Ras and BRAF proteins instruct the cell to grow and divide (proliferate) or to mature and take on specialized functions (differentiate). To transmit signals, these proteins must be turned on; when the proteins are turned off, they do not relay signals to the cell's nucleus. The NRAS or BRAF gene mutations responsible for giant congenital melanocytic nevus are somatic, meaning that they are acquired during a person's lifetime and are present only in certain cells. These mutations occur early in embryonic development during the growth and division (proliferation) of cells that develop into melanocytes. Somatic NRAS or BRAF gene mutations cause the altered protein in affected cells to be constantly turned on (constitutively active) and relaying signals. The overactive protein may contribute to the development of giant congenital melanocytic nevus by allowing cells that develop into melanocytes to grow and divide uncontrollably, starting before birth.
Question: Is giant congenital melanocytic nevus inherited ?
Answer: This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. A somatic mutation in one copy of the NRAS or BRAF gene is sufficient to cause this disorder.
Question: What are the treatments for giant congenital melanocytic nevus ?
Answer: These resources address the diagnosis or management of giant congenital melanocytic nevus: - Cleveland Clinic: The Facts About Melanoma - Genetic Testing Registry: Giant pigmented hairy nevus - MedlinePlus Encyclopedia: Giant Congenital Nevus - Nevus Outreach: Treatment Options - Primary Care Dermatology Society 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) spinocerebellar ataxia type 36 ?
Answer: Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of specialized nerve cells that control muscle movement (motor neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals. Some people with SCA36 have abnormalities of the eye muscles, which can lead to involuntary eye movements (nystagmus), rapid eye movements (saccades), trouble moving the eyes side-to-side (oculomotor apraxia), and droopy eyelids (ptosis). Sensorineural hearing loss, which is hearing loss caused by changes in the inner ear, may also occur in people with SCA36. Brain imaging of people with SCA36 shows progressive atrophy of various parts of the brain, particularly within the cerebellum, which is the area of the brain involved in coordinating movements. Over time, the loss of cells in the cerebellum causes the movement problems characteristic of SCA36. In older affected individuals, the frontal lobes of the brain may show atrophy resulting in loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Signs and symptoms of SCA36 typically begin in a person's forties or fifties but can appear anytime during adulthood. People with SCA36 have a normal lifespan and are usually mobile for 15 to 20 years after they are diagnosed.
Question: How many people are affected by spinocerebellar ataxia type 36 ?
Answer: Approximately 100 individuals with SCA36 have been reported in the scientific literature. Almost all of these individuals have been from two regions: western Japan and the Costa de Morte in Galicia, Spain.