sarnsrun/medquad huggingface dataset:
Topic: cytogenetically normal acute myeloid leukemia
Question: What is (are) cytogenetically normal acute myeloid leukemia ?
Answer: Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.  People with CN-AML have a shortage of all types of mature blood cells: a shortage of white blood cells (leukopenia) leads to increased susceptibility to infections, a low number of red blood cells (anemia) causes fatigue and weakness, and a reduction in the amount of platelets (thrombocytopenia) can result in easy bruising and abnormal bleeding. Other symptoms of CN-AML may include fever and weight loss.  The age at which CN-AML begins ranges from childhood to late adulthood. CN-AML is said to be an intermediate-risk cancer because the prognosis varies: some affected individuals respond well to normal treatment while others may require stronger treatments. The age at which the condition begins and the prognosis are affected by the specific genetic factors involved in the condition.
Source: GHR
Topic: cytogenetically normal acute myeloid leukemia
Question: How many people are affected by cytogenetically normal acute myeloid leukemia ?
Answer: Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. Forty to 50 percent of people with acute myeloid leukemia have CN-AML.
Source: GHR
Topic: cytogenetically normal acute myeloid leukemia
Question: What are the genetic changes related to cytogenetically normal acute myeloid leukemia ?
Answer: CN-AML is classified as "cytogenetically normal" based on the type of genetic changes involved in its development. Cytogenetically normal refers to the fact that this form of acute myeloid leukemia is not associated with large chromosomal abnormalities. About half of people with acute myeloid leukemia have this form of the condition; the other half have genetic changes that alter large regions of certain chromosomes. These changes can be identified by a test known as cytogenetic analysis. CN-AML is associated with smaller genetic changes that cannot be seen by cytogenetic analysis.  Mutations in a large number of genes have been found in people with CN-AML; the most commonly affected genes are NPM1, FLT3, DNMT3A, CEBPA, IDH1, and IDH2. The proteins produced from these genes have different functions in the cell. Most are involved in regulating processes such as the growth and division (proliferation), maturation (differentiation), or survival of cells. For example, the protein produced from the FLT3 gene stimulates the proliferation and survival of cells. The proteins produced from the CEBPA and DNMT3A genes regulate gene activity and help to control when cells divide and how they mature. The NPM1 gene provides instructions for a protein that is likely involved in the regulation of cell growth and division. Mutations in any of these genes can disrupt one or more of these processes in hematopoietic stem cells and lead to overproduction of abnormal, immature white blood cells, which is characteristic of CN-AML. Although the proteins produced from two other genes involved in CN-AML, IDH1 and IDH2, are not normally involved in proliferation, differentiation, or survival of cells, mutations in these genes lead to the production of proteins with a new function. These changes result in impaired differentiation of hematopoietic stem cells, which leads to CN-AML.  CN-AML is a complex condition influenced by several genetic and environmental factors. Typically, mutations in more than one gene are involved. For example, people with an NPM1 gene mutation frequently also have a mutation in the FLT3 gene, both of which are likely involved in the cancer's development. In addition, environmental factors such as smoking or exposure to radiation increase an individual's risk of developing acute myeloid leukemia.
Source: GHR
Topic: cytogenetically normal acute myeloid leukemia
Question: Is cytogenetically normal acute myeloid leukemia inherited ?
Answer: CN-AML is not usually inherited but arises from genetic changes in the body's cells that occur after conception. Rarely, an inherited mutation in the CEBPA gene causes acute myeloid leukemia. In these cases, the condition follows an autosomal dominant pattern of inheritance, which means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder. These cases of CN-AML are referred to as familial acute myeloid leukemia with mutated CEBPA.
Source: GHR
Topic: cytogenetically normal acute myeloid leukemia
Question: What are the treatments for cytogenetically normal acute myeloid leukemia ?
Answer: These resources address the diagnosis or management of cytogenetically normal acute myeloid leukemia:  - Fred Hutchinson Cancer Research Center  - National Cancer Institute: Acute Myeloid Leukemia Treatment  - St. Jude Children's Research Hospital   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
Source: GHR
Topic: prothrombin deficiency
Question: What is (are) prothrombin deficiency ?
Answer: Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Women with prothrombin deficiency can have prolonged and sometimes abnormally heavy menstrual bleeding. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and the condition may only become apparent following surgery or a serious injury.
Source: GHR
Topic: prothrombin deficiency
Question: How many people are affected by prothrombin deficiency ?
Answer: Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 million people in the general population.
Source: GHR
Topic: prothrombin deficiency
Question: What are the genetic changes related to prothrombin deficiency ?
Answer: Mutations in the F2 gene cause prothrombin deficiency. The F2 gene provides instructions for making the prothrombin protein (also called coagulation factor II), which plays a critical role in the formation of blood clots in response to injury. Prothrombin is the precursor to thrombin, a protein that initiates a series of chemical reactions to form a blood clot. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss.  F2 gene mutations reduce the production of prothrombin in cells, which prevents clots from forming properly in response to injury. Problems with blood clotting can lead to excessive bleeding. Some mutations drastically reduce the activity of prothrombin and can lead to severe bleeding episodes. Other F2 gene mutations allow for a moderate amount of prothrombin activity, typically resulting in mild bleeding episodes.
Source: GHR
Topic: prothrombin deficiency
Question: Is prothrombin deficiency 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.
Source: GHR
Topic: prothrombin deficiency
Question: What are the treatments for prothrombin deficiency ?
Answer: These resources address the diagnosis or management of prothrombin deficiency:  - Genetic Testing Registry: Prothrombin deficiency, congenital  - MedlinePlus Encyclopedia: Factor II deficiency   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
Source: GHR
Topic: familial exudative vitreoretinopathy
Question: What is (are) familial exudative vitreoretinopathy ?
Answer: Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.  The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. In others, a reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). This retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil.  Some people with familial exudative vitreoretinopathy also have reduced bone mineral density, which weakens bones and increases the risk of fractures.
Source: GHR
Topic: familial exudative vitreoretinopathy
Question: How many people are affected by familial exudative vitreoretinopathy ?
Answer: The prevalence of familial exudative vitreoretinopathy is unknown. It appears to be rare, although affected people with normal vision may never come to medical attention.
Source: GHR
Topic: familial exudative vitreoretinopathy
Question: What are the genetic changes related to familial exudative vitreoretinopathy ?
Answer: Mutations in the FZD4, LRP5, and NDP genes can cause familial exudative vitreoretinopathy. These genes provide instructions for making proteins that participate in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the proteins produced from the FZD4, LRP5, and NDP genes appear to play critical roles in the specialization of retinal cells and the establishment of a blood supply to the retina and the inner ear. The LRP5 protein also helps regulate bone formation.  Mutations in the FZD4, LRP5, or NDP gene disrupt chemical signaling during early development, which interferes with the formation of blood vessels at the edges of the retina. The resulting abnormal blood supply to this tissue leads to retinal damage and vision loss in some people with familial exudative vitreoretinopathy.  The eye abnormalities associated with familial exudative vitreoretinopathy tend to be similar no matter which gene is altered. However, affected individuals with LRP5 gene mutations often have reduced bone mineral density in addition to vision loss. Mutations in the other genes responsible for familial exudative vitreoretinopathy do not appear to affect bone density.  In some cases, the cause of familial exudative vitreoretinopathy is unknown. Researchers believe that mutations in several as-yet-unidentified genes are responsible for the disorder in these cases.
Source: GHR
Topic: familial exudative vitreoretinopathy
Question: Is familial exudative vitreoretinopathy inherited ?
Answer: Familial exudative vitreoretinopathy has different inheritance patterns depending on the gene involved. Most commonly, the condition results from mutations in the FZD4 or LRP5 gene and has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant familial exudative vitreoretinopathy inherit the altered gene from a parent, although the parent may not have any signs and symptoms associated with this disorder.  Familial exudative vitreoretinopathy caused by LRP5 gene mutations can also have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with autosomal recessive familial exudative vitreoretinopathy each carry one copy of the mutated gene, but they do not have the disorder.  When familial exudative vitreoretinopathy is caused by mutations in the NDP gene, it has an X-linked recessive pattern of inheritance. The NDP gene 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 disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Source: GHR
Topic: familial exudative vitreoretinopathy
Question: What are the treatments for familial exudative vitreoretinopathy ?
Answer: These resources address the diagnosis or management of familial exudative vitreoretinopathy:  - Gene Review: Gene Review: Familial Exudative Vitreoretinopathy, Autosomal Dominant  - Gene Review: Gene Review: NDP-Related Retinopathies  - Genetic Testing Registry: Exudative vitreoretinopathy 1  - Genetic Testing Registry: Exudative vitreoretinopathy 3  - Genetic Testing Registry: Exudative vitreoretinopathy 4  - Genetic Testing Registry: Familial exudative vitreoretinopathy, X-linked   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
Source: GHR
Topic: autosomal dominant vitreoretinochoroidopathy
Question: What is (are) autosomal dominant vitreoretinochoroidopathy ?
Answer: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.  The signs and symptoms of ADVIRC vary, even among members of the same family. Many affected individuals have microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. The area behind the cornea can also be abnormally small, which is described as a shallow anterior chamber. Individuals with ADVIRC can develop increased pressure in the eyes (glaucoma) or clouding of the lens of the eye (cataract). In addition, some people have breakdown (degeneration) of the vitreous or the choroid.  A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. This feature can help physicians diagnose the disorder. Affected individuals may also have white spots on the retina.
Source: GHR
Topic: autosomal dominant vitreoretinochoroidopathy
Question: How many people are affected by autosomal dominant vitreoretinochoroidopathy ?
Answer: ADVIRC is considered a rare disease. Its prevalence is unknown.
Source: GHR
Topic: autosomal dominant vitreoretinochoroidopathy
Question: What are the genetic changes related to autosomal dominant vitreoretinochoroidopathy ?
Answer: ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina and is involved in growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and color. In the retinal pigment epithelium, bestrophin-1 functions as a channel that transports charged chlorine atoms (chloride ions) across the cell membrane.  Mutations in the BEST1 gene alter how the gene's instructions are used to make bestrophin-1, which leads to production of versions of the protein that are missing certain segments or have extra segments. It is not clear how these versions of bestrophin affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities are related to defects in the retinal pigment epithelium or the photoreceptors.
Source: GHR
Topic: autosomal dominant vitreoretinochoroidopathy
Question: Is autosomal dominant vitreoretinochoroidopathy 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. In most cases, an affected person has one parent with the condition.
Source: GHR
Topic: autosomal dominant vitreoretinochoroidopathy
Question: What are the treatments for autosomal dominant vitreoretinochoroidopathy ?
Answer: These resources address the diagnosis or management of autosomal dominant vitreoretinochoroidopathy:  - American Foundation for the Blind: Living with Vision Loss  - Genetic Testing Registry: Vitreoretinochoroidopathy dominant   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
Source: GHR
Topic: geleophysic dysplasia
Question: What is (are) geleophysic dysplasia ?
Answer: Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.  People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called contractures, both of which significantly limit mobility. Affected individuals usually have a limited range of motion in their fingers, toes, wrists, and elbows. Additionally, contractures in the legs and hips cause many affected people to walk on their toes.  The name of this condition, which comes from the Greek words for happy ("gelios") and nature ("physis"), is derived from the good-natured facial appearance seen in most affected individuals. The distinctive facial features associated with this condition include a round face with full cheeks, a small nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned corners of the mouth, and a flat area between the upper lip and the nose (philtrum).  Geleophysic dysplasia is also characterized by heart (cardiac) problems, particularly abnormalities of the cardiac valves. These valves normally control the flow of blood through the heart. In people with geleophysic dysplasia, the cardiac valves thicken, which impedes blood flow and increases blood pressure in the heart. Other heart problems have also been reported in people with geleophysic dysplasia; these include a narrowing of the artery from the heart to the lungs (pulmonary stenosis) and a hole between the two upper chambers of the heart (atrial septal defect).  Other features of geleophysic dysplasia can include an enlarged liver (hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a narrowing of the windpipe (tracheal stenosis) can cause serious breathing problems. As a result of heart and respiratory abnormalities, geleophysic dysplasia is often life-threatening in childhood. However, some affected people have lived into adulthood.
Source: GHR
Topic: geleophysic dysplasia
Question: How many people are affected by geleophysic dysplasia ?
Answer: Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported.
Source: GHR
Topic: geleophysic dysplasia
Question: What are the genetic changes related to geleophysic dysplasia ?
Answer: Geleophysic dysplasia results from mutations in the ADAMTSL2 gene. This gene provides instructions for making a protein whose function is unclear. The protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Studies suggest that the ADAMTSL2 protein may play a role in the microfibrillar network, which is an organized clustering of thread-like filaments (called microfibrils) in the extracellular matrix. This network provides strength and flexibility to tissues throughout the body.  Mutations in the ADAMTSL2 protein likely change the protein's 3-dimensional structure. Through a process that is poorly understood, ADAMTSL2 gene mutations alter the microfibrillar network in many different tissues. Impairment of this essential network disrupts the normal functions of cells, which likely contributes to the varied signs and symptoms of geleophysic dysplasia. Researchers are working to determine how mutations in the ADAMTSL2 gene lead to short stature, heart disease, and the other features of this condition.
Source: GHR
Topic: geleophysic dysplasia
Question: Is geleophysic dysplasia 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.
Source: GHR
Topic: geleophysic dysplasia
Question: What are the treatments for geleophysic dysplasia ?
Answer: These resources address the diagnosis or management of geleophysic dysplasia:  - Gene Review: Gene Review: Geleophysic Dysplasia  - Genetic Testing Registry: Geleophysic dysplasia 2  - MedlinePlus Encyclopedia: Short Stature   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
Source: GHR