fenil210/Med-Lamma huggingface dataset:
Is Turner syndrome inherited ?
Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may lose a sex chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have a single X chromosome in each cell and will be missing the other sex chromosome.  Mosaic Turner syndrome is also not inherited. In an affected individual, it occurs as a random event during cell division in early fetal development. As a result, some of an affected person's cells have the usual two sex chromosomes, and other cells have only one copy of the X chromosome. Other sex chromosome abnormalities are also possible in females with X chromosome mosaicism.  Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the next. + GHR + Turner syndrome
What are the treatments for Turner syndrome ?
These resources address the diagnosis or management of Turner syndrome:  - Genetic Testing Registry: Turner syndrome  - MedlinePlus Encyclopedia: Ovarian Hypofunction  - MedlinePlus Encyclopedia: Turner Syndrome   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 + GHR + Turner syndrome
What is (are) Kufs disease ?
Kufs disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of Kufs disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.  Two types of Kufs disease have been described: type A and type B. The two types are differentiated by their genetic cause, pattern of inheritance, and certain signs and symptoms. Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), impaired muscle coordination (ataxia), involuntary movements such as tremors or tics, and speech difficulties (dysarthria). Kufs disease type B shares many features with type A, but it is distinguished by changes in personality and is not associated with myoclonic epilepsy or dysarthria.  The signs and symptoms of Kufs disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins.  Kufs disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are also known as Batten disease. These disorders affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. Kufs disease, however, does not affect vision. The different types of NCLs are distinguished by the age at which signs and symptoms first appear. + GHR + Kufs disease
How many people are affected by Kufs disease ?
Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals have the condition. Kufs disease is thought to represent 1.3 to 10 percent of all NCLs. + GHR + Kufs disease
What are the genetic changes related to Kufs disease ?
Mutations in the CLN6 or PPT1 gene cause Kufs disease type A, and mutations in the DNAJC5 or CTSF gene cause Kufs disease type B. Most of the proteins or enzymes produced from these genes are involved in breaking down proteins or clearing unneeded materials from cells.  The CLN6 gene provides instructions for making a protein that likely regulates the transport of certain proteins and fats within the cell. Based on this function, the CLN6 protein appears to help in the process of ridding cells of materials they no longer need.  The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is found in structures called lysosomes, which are compartments within cells that break down and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats from proteins, which probably helps break down the proteins.  The protein produced from the DNAJC5 gene is called cysteine string protein alpha (CSP). This protein is found in the brain and plays a role in the transmission of nerve impulses by ensuring that nerve cells receive signals.  The enzyme produced from the CTSF gene is called cathepsin F. Cathepsin F acts as a protease, which modifies proteins by cutting them apart. Cathepsin F is found in many types of cells and is active in lysosomes. By cutting proteins apart, cathepsin F can break proteins down, turn on (activate) proteins, and regulate self-destruction of the cell (apoptosis).  Mutations in the CLN6, PPT1, DNAJC5, or CTSF gene usually reduce the activity of the gene or impair the function of the protein or enzyme produced from the gene. In many cases, these mutations cause incomplete breakdown of certain proteins and other materials. These materials accumulate in the lysosome, forming fatty substances called lipopigments. In other cases, it is unclear what causes the buildup of lipopigments. In Kufs disease, these accumulations occur in nerve cells (neurons) in the brain, resulting in cell dysfunction and eventually cell death. The progressive death of neurons leads to the signs and symptoms of Kufs disease.  Some people with either type of Kufs disease do not have an identified mutation in any of these four genes. In these individuals, the cause of the condition is unknown. + GHR + Kufs disease
Is Kufs disease inherited ?
Kufs disease type A, caused by mutations in the CLN6 or PPT1 gene, has 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 an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  Kufs disease type B, caused by mutations in the DNAJC5 or CTSF gene, 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 cases of Kufs disease type B occur in people with no history of the disorder in their family. + GHR + Kufs disease
What are the treatments for Kufs disease ?
These resources address the diagnosis or management of Kufs disease:  - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses  - Genetic Testing Registry: Adult neuronal ceroid lipofuscinosis  - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 4B autosomal 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 + GHR + Kufs disease
What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ?
Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.  Women with MRKH syndrome may also have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects. + GHR + Mayer-Rokitansky-Kster-Hauser syndrome
How many people are affected by Mayer-Rokitansky-Kster-Hauser syndrome ?
MRKH syndrome affects approximately 1 in 4,500 newborn girls. + GHR + Mayer-Rokitansky-Kster-Hauser syndrome
What are the genetic changes related to Mayer-Rokitansky-Kster-Hauser syndrome ?
The cause of MRKH syndrome is unknown, although it probably results from a combination of genetic and environmental factors. Researchers have not identified any genes associated with MRKH syndrome.  The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Mllerian duct. This structure in the embryo develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Mllerian duct in affected individuals is unknown. Originally, researchers believed that MRKH syndrome was caused by something the fetus was exposed to during pregnancy, such as a medication or maternal illness. However, studies have not identified an association with maternal drug use, illness, or other factors. It is also unclear why some affected individuals have abnormalities in parts of the body other than the reproductive system. + GHR + Mayer-Rokitansky-Kster-Hauser syndrome
Is Mayer-Rokitansky-Kster-Hauser syndrome inherited ?
Most cases of MRKH syndrome occur in people with no history of the disorder in their family.  Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. However, in some families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is typically sufficient to cause the disorder, although no genes have been associated with MRKH syndrome. + GHR + Mayer-Rokitansky-Kster-Hauser syndrome
What are the treatments for Mayer-Rokitansky-Kster-Hauser syndrome ?
These resources address the diagnosis or management of Mayer-Rokitansky-Kster-Hauser syndrome:  - American Urological Association Foundation: Vaginal Agenesis  - Children's Hospital Boston: Center for Young Women's Health  - Genetic Testing Registry: Rokitansky Kuster Hauser syndrome   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 + GHR + Mayer-Rokitansky-Kster-Hauser syndrome
What is (are) cytogenetically normal acute myeloid leukemia ?
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. + GHR + cytogenetically normal acute myeloid leukemia
How many people are affected by cytogenetically normal acute myeloid leukemia ?
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. + GHR + cytogenetically normal acute myeloid leukemia
What are the genetic changes related to cytogenetically normal acute myeloid leukemia ?
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. + GHR + cytogenetically normal acute myeloid leukemia
Is cytogenetically normal acute myeloid leukemia inherited ?
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. + GHR + cytogenetically normal acute myeloid leukemia
What are the treatments for cytogenetically normal acute myeloid leukemia ?
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 + GHR + cytogenetically normal acute myeloid leukemia
What is (are) prothrombin deficiency ?
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. + GHR + prothrombin deficiency
How many people are affected by prothrombin deficiency ?
Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 million people in the general population. + GHR + prothrombin deficiency
What are the genetic changes related to prothrombin deficiency ?
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. + GHR + prothrombin deficiency
Is prothrombin deficiency inherited ?
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. + GHR + prothrombin deficiency
What are the treatments for prothrombin deficiency ?
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 + GHR + prothrombin deficiency
What is (are) familial exudative vitreoretinopathy ?
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. + GHR + familial exudative vitreoretinopathy
How many people are affected by familial exudative vitreoretinopathy ?
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. + GHR + familial exudative vitreoretinopathy
What are the genetic changes related to familial exudative vitreoretinopathy ?
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. + GHR + familial exudative vitreoretinopathy
Is familial exudative vitreoretinopathy inherited ?
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. + GHR + familial exudative vitreoretinopathy