sarnsrun/medquadmini huggingface dataset:
Question:
What is (are) Erdheim-Chester disease ?

Answer:
Erdheim-Chester disease is a rare disorder characterized by histiocytosis, a condition in which the immune system produces excess quantities of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. Erdheim-Chester disease is classified as a form of non-Langerhans cell histiocytosis to distinguish it from Langerhans cell histiocytosis, which involves accumulation of a specific type of histiocyte called Langerhans cells. In Erdheim-Chester disease, histiocytosis leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.  People with Erdheim-Chester disease often have bone pain, especially in the lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces several hormones, including a hormone that controls the amount of water released in the urine) may result in hormonal problems such as a condition called diabetes insipidus that leads to excessive urination. Abnormally high pressure of the cerebrospinal fluid within the skull (intracranial hypertension) caused by accumulation of histiocytes in the brain may result in headaches, seizures, cognitive impairment, or problems with movement or sensation. People with this condition can also have shortness of breath, heart or kidney disease, protruding eyes (exophthalmos), skin growths, or inability to conceive a child (infertility). Affected individuals may also experience fever, night sweats, fatigue, weakness, and weight loss.  The signs and symptoms of Erdheim-Chester disease usually appear between the ages of 40 and 60, although the disorder can occur at any age. The severity of the condition varies widely; some affected individuals have few or no associated health problems, while others have severe complications that can be life-threatening.
Question:
How many people are affected by Erdheim-Chester disease ?

Answer:
Erdheim-Chester disease is a rare disorder; its exact prevalence is unknown. More than 500 affected individuals worldwide have been described in the medical literature. For unknown reasons, men are slightly more likely to develop the disease, accounting for about 60 percent of cases.
Question:
What are the genetic changes related to Erdheim-Chester disease ?

Answer:
More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder.  The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions. Specifically, the RAS/MAPK pathway regulates the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis).  The BRAF gene mutation that causes Erdheim-Chester disease is somatic, which means that it occurs during a person's lifetime and is present only in certain cells. The mutation occurs in histiocytes or in immature precursor cells that will develop into histiocytes. This mutation leads to production of a BRAF protein that is abnormally active, which disrupts regulation of cell growth and division. The unregulated overproduction of histiocytes results in their accumulation in the body's tissues and organs, leading to the signs and symptoms of Erdheim-Chester disease.  The BRAF gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. Researchers disagree on whether Erdheim-Chester disease should be considered a form of cancer because of the unregulated accumulation of histiocytes.
Question:
Is Erdheim-Chester disease inherited ?

Answer:
This condition is not inherited. It arises from a somatic mutation in histiocytes or their precursor cells during an individual's lifetime.
Question:
What are the treatments for Erdheim-Chester disease ?

Answer:
These resources address the diagnosis or management of Erdheim-Chester disease:  - Histiocytosis Association: Erdheim-Chester Disease Diagnosis and Treatment   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) histidinemia ?

Answer:
Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition.  The combination of histidinemia and a medical complication during or soon after birth (such as a temporary lack of oxygen) might increase a person's chances of developing intellectual disability, behavioral problems, or learning disorders.
Question:
How many people are affected by histidinemia ?

Answer:
Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people.
Question:
What are the genetic changes related to histidinemia ?

Answer:
Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver and the skin.  HAL gene mutations lead to the production of a histidase enzyme that cannot break down histidine, which results in elevated levels of histidine in the blood and urine. These increased levels of histidine do not appear to have any negative effects on the body.
Question:
Is histidinemia 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 histidinemia ?

Answer:
These resources address the diagnosis or management of histidinemia:  - Genetic Testing Registry: Histidinemia   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) ALG12-congenital disorder of glycosylation ?

Answer:
ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures.  Some people with ALG12-CDG have physical abnormalities such as a small head size (microcephaly) and unusual facial features. These features can include folds of skin that cover the inner corners of the eyes (epicanthal folds), a prominent nasal bridge, and abnormally shaped ears. Some males with ALG12-CDG have abnormal genitalia, such as a small penis (micropenis) and undescended testes.  People with ALG12-CDG often produce abnormally low levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies can make it difficult for affected individuals to fight infections.  Less common abnormalities seen in people with ALG12-CDG include a weakened heart muscle (cardiomyopathy) and poor bone development, which can lead to skeletal abnormalities.
Question:
How many people are affected by ALG12-congenital disorder of glycosylation ?

Answer:
ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of affected individuals have been described in the medical literature.
Question:
What are the genetic changes related to ALG12-congenital disorder of glycosylation ?

Answer:
Mutations in the ALG12 gene cause ALG12-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fully perform their functions. The enzyme produced from the ALG12 gene transfers a simple sugar called mannose to growing oligosaccharides at a particular step in the formation of the sugar chain. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or lipid.  ALG12 gene mutations lead to the production of an abnormal enzyme with reduced activity. Without a properly functioning enzyme, mannose cannot be added to the chain efficiently, and the resulting oligosaccharides are often incomplete. Although the short oligosaccharides can be transferred to proteins and fats, the process is not as efficient as with the full-length oligosaccharide. As a result, glycosylation is reduced. The wide variety of signs and symptoms in ALG12-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for normal function of many organs and tissues, including the brain.
Question:
Is ALG12-congenital disorder of glycosylation 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 ALG12-congenital disorder of glycosylation ?

Answer:
These resources address the diagnosis or management of ALG12-CDG:  - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview  - Genetic Testing Registry: Congenital disorder of glycosylation type 1G   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) recurrent hydatidiform mole ?

Answer:
Recurrent hydatidiform mole occurs when women have at least two abnormal pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in pregnancy when an embryo does not fully develop and the placenta develops abnormally. The placenta is a solid structure in the uterus that normally provides nutrients to a growing fetus. If a hydatidiform mole occurs once, it is known a sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole.  A hydatidiform mole often causes vaginal bleeding in the first trimester of the pregnancy. In an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes. In some cases, the ultrasound shows no fetus, umbilical cord, or amniotic sac (a fluid-filled sac that normally surrounds the fetus).  Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind (persistent mole) will continue to grow and become a cancerous tumor called an invasive mole. The invasive mole can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.
Question:
How many people are affected by recurrent hydatidiform mole ?

Answer:
Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western countries and are more common in developing countries. One to six percent of previously affected women will have a recurrent hydatidiform mole.
Question:
What are the genetic changes related to recurrent hydatidiform mole ?

Answer:
Mutations in the NLRP7 or KHDC3L gene can cause recurrent hydatidiform mole, with NLRP7 gene mutations being the most common cause.  Within egg cells (oocytes), both the NLRP7 and KHDC3L proteins are thought to play a role in turning off (inactivating) certain genes based on which parent the copy of the gene came from, a phenomenon known as genomic imprinting. For most genes, both copies of the gene (one copy inherited from each parent) are active in all cells. For a small subset of genes, however, only one of the two copies is active; for some of these genes, the copy from the father is normally active, while for others, the copy from the mother is normally active. The NLRP7 and KHDC3L proteins are likely involved in imprinting multiple maternal genes in oocytes, ensuring that they will be inactive in the developing embryo; the corresponding paternal genes are active.  NLRP7 or KHDC3L gene mutations result in the production of proteins with impaired function. As a result, multiple genes that contribute to a developing embryo are not imprinted properly, leading to abnormal gene activity (expression) in all pregnancies. Because many genes that would normally be inactive are instead active, embryonic development is impaired, resulting in a hydatidiform mole.  The NLRP7 protein has also been found to play a role in cell growth and division (proliferation) and cell maturation (differentiation). Research suggests that the NLRP7 protein plays an additional role in immune responses by regulating the release of an immune protein called interleukin-1 beta. Normally, the immune system would recognize a hydatidiform mole as a non-growing pregnancy or foreign tissue and signal the body to remove it. Because the impaired NLRP7 protein slows interleukin-1 beta release, the body cannot trigger an immune response to the abnormal pregnancy. Instead, the hydatidiform mole remains in the body. The cause of the retention of the pregnancy in women with KHDC3L gene mutations is unclear.  In some cases of recurrent hydatidiform mole, no mutations in either of these genes have been identified. In these instances, the cause of the condition is unknown.  When there is only a single instance of hydatidiform mole, it is often caused by abnormal fertilization of an egg. In sporadic hydatidiform mole, the embryo either receives genetic information only from sperm cells because the egg has no DNA-containing nucleus, or the embryo receives too much genetic information because two sperm cells fertilized one egg.
Question:
Is recurrent hydatidiform mole inherited ?

Answer:
This condition is often inherited in an autosomal recessive pattern, which means a woman has to have mutations in both copies of the gene in each of her cells to have recurrent hydatidiform mole pregnancies. Because the mutations are present in all of a woman's cells, including oocytes (which need these genes to promote normal embryonic development), a hydatidiform mole will develop in each pregnancy that occurs with those egg cells.
Question:
What are the treatments for recurrent hydatidiform mole ?

Answer:
These resources address the diagnosis or management of recurrent hydatidiform mole:  - American Cancer Society: Signs and Symptoms of Gestational Trophoblastic Disease  - Genetic Testing Registry: Hydatidiform mole  - Genetic Testing Registry: Hydatidiform mole, recurrent, 2  - MedlinePlus Encyclopedia: Choriocarcinoma  - MedlinePlus Encyclopedia: Hydatidiform Mole   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) antiphospholipid syndrome ?

Answer:
Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently occur in the vessels of the lower limbs. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs.  Women with antiphospholipid syndrome are at increased risk of complications during pregnancy. These complications include pregnancy-induced high blood pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), early delivery, or pregnancy loss (miscarriage). In addition, women with antiphospholipid syndrome are at greater risk of having a thrombosis during pregnancy than at other times during their lives. At birth, infants of mothers with antiphospholipid syndrome may be small and underweight.  A thrombosis or pregnancy complication is typically the first sign of antiphospholipid syndrome. This condition usually appears in early to mid-adulthood but can begin at any age.  Other signs and symptoms of antiphospholipid syndrome that affect blood cells and vessels include a reduced amount of blood clotting cells called platelets (thrombocytopenia), a shortage of red blood cells (anemia) due to their premature breakdown (hemolysis), and a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. In addition, affected individuals may have open sores (ulcers) on the skin, migraine headaches, heart disease, or intellectual disability. Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus.  Rarely, people with antiphospholipid syndrome develop thromboses in multiple blood vessels throughout their body. These thromboses block blood flow in affected organs, which impairs their function and ultimately causes organ failure. These individuals are said to have catastrophic antiphospholipid syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and liver, and is fatal in over half of affected individuals. Less than 1 percent of individuals with antiphospholipid syndrome develop CAPS.
Question:
How many people are affected by antiphospholipid syndrome ?

Answer:
The exact prevalence of antiphospholipid syndrome is unknown. This condition is thought to be fairly common, and may be responsible for up to one percent of all thromboses. It is estimated that 20 percent of individuals younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 percent of people with systemic lupus erythematosus have antiphospholipid syndrome. Similarly, 10 to 15 percent of women with recurrent miscarriages likely have this condition. Approximately 70 percent of individuals diagnosed with antiphospholipid syndrome are female.
Question:
What are the genetic changes related to antiphospholipid syndrome ?

Answer:
The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibodies in antiphospholipid syndrome attack normal human proteins. When these antibodies attach (bind) to proteins, the proteins change shape and bind to other molecules and receptors on the surface of cells. Binding to cells, particularly immune cells, turns on (activates) the blood clotting pathway and other immune responses.  The production of lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I may coincide with exposure to foreign invaders, such as viruses and bacteria, that are similar to normal human proteins. Exposure to these foreign invaders may cause the body to produce antibodies to fight the infection, but because the invaders are so similar to the body's own proteins, the antibodies also attack the human proteins. Similar triggers may occur during pregnancy when a woman's physiology, particularly her immune system, adapts to accommodate the developing fetus. These changes during pregnancy may explain the high rate of affected females.  Certain genetic variations (polymorphisms) in a few genes have been found in people with antiphospholipid syndrome and may predispose individuals to produce the specific antibodies known to contribute to the formation of thromboses. However, the contribution of these genetic changes to the development of the condition is unclear.  People who test positive for all three antibodies but have not had a thrombosis or recurrent miscarriages are said to be antiphospholipid carriers. These individuals are at greater risk of developing a thrombosis than is the general population.
Question:
Is antiphospholipid syndrome inherited ?

Answer:
Most cases of antiphospholipid syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing antiphospholipid syndrome.
Question:
What are the treatments for antiphospholipid syndrome ?

Answer:
These resources address the diagnosis or management of antiphospholipid syndrome:  - Genetic Testing Registry: Antiphospholipid syndrome  - Hughes Syndrome Foundation: Diagnosis: How To Get Tested  - Hughes Syndrome Foundation: Treatment and Medication: Current Advice and Information  - National Heart Lung and Blood Institute: How Is Antiphospholipid Antibody Syndrome Treated?   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) Arts syndrome ?

Answer:
Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.  Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).  Boys with Arts syndrome also usually have recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.  In females with Arts syndrome, hearing loss that begins in adulthood may be the only symptom.
Question:
How many people are affected by Arts syndrome ?

Answer:
Arts syndrome appears to be extremely rare. Only a few families with this disorder have been described in the medical literature.