bowang0911/MedQuAD huggingface dataset:
These resources address the diagnosis or management of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome:  - Gene Review: Gene Review: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome  - Genetic Testing Registry: Navajo neurohepatopathy  - The United Mitochondrial Disease Foundation: Treatments and Therapies   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
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), retarded growth and development, genital abnormality, and ear abnormality. The pattern of malformations varies among individuals with this disorder, and infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics.  The major characteristics of CHARGE syndrome are more specific to this disorder than are the minor characteristics. Many individuals with CHARGE syndrome have a hole in one of the structures of the eye (coloboma), which forms during early development. A coloboma may be present in one or both eyes and can affect a person's vision, depending on its size and location. Some people also have small eyes (microphthalmia). One or both nasal passages may be narrowed (choanal stenosis) or completely blocked (choanal atresia). Individuals with CHARGE syndrome frequently have cranial nerve abnormalities. The cranial nerves emerge directly from the brain and extend to various areas of the head and neck, controlling muscle movement and transmitting sensory information. Abnormal function of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) or completely absent (anosmia), and mild to profound hearing loss. People with CHARGE syndrome also typically have middle and inner ear abnormalities and unusually shaped ears.  The minor characteristics of CHARGE syndrome are not specific to this disorder; they are frequently present in people without CHARGE syndrome. The minor characteristics include heart defects, slow growth starting in late infancy, developmental delay, and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Individuals frequently have hypogonadotropic hypogonadism, which affects the production of hormones that direct sexual development. Males are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). External genitalia abnormalities are seen less often in females with CHARGE syndrome. Puberty can be incomplete or delayed. Individuals may have a tracheoesophageal fistula, which is an abnormal connection (fistula) between the esophagus and the trachea. People with CHARGE syndrome also have distinctive facial features, including a square-shaped face and difference in the appearance between the right and left sides of the face (facial asymmetry). Individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication.
Mutations in the CHD7 gene cause more than half of all cases of CHARGE syndrome. The CHD7 gene provides instructions for making a protein that most likely regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed.  Most mutations in the CHD7 gene lead to the production of an abnormally short, nonfunctional CHD7 protein, which presumably disrupts chromatin remodeling and the regulation of gene expression. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome.  About one-third of individuals with CHARGE syndrome do not have an identified mutation in the CHD7 gene. Researchers suspect that other genetic and environmental factors may be involved in these individuals.
These resources address the diagnosis or management of CHARGE syndrome:  - Gene Review: Gene Review: CHARGE Syndrome  - Genetic Testing Registry: CHARGE association  - MedlinePlus Encyclopedia: Choanal atresia  - MedlinePlus Encyclopedia: Coloboma  - MedlinePlus Encyclopedia: Facial Paralysis   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
8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer.  The condition can occur at any age. It usually begins as a myeloproliferative disorder, which is characterized by a high number of white blood cells (leukocytes). Most affected individuals also have an excess of myeloid cells known as eosinophils (eosinophilia).  In addition to a myeloproliferative disorder, many people with 8p11 myeloproliferative syndrome develop lymphoma, which is a form of blood cancer that involves lymphoid cells. The cancerous lymphoid cells grow and divide in lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of 8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called T cells. Lymphoma can develop at the same time as the myeloproliferative disorder or later.  In most people with 8p11 myeloproliferative syndrome, the myeloproliferative disorder develops into a fast-growing blood cancer called acute myeloid leukemia.  The rapid myeloid and lymphoid cell production caused by these cancers results in enlargement of the spleen and liver (splenomegaly and hepatomegaly, respectively). Most people with 8p11 myeloproliferative syndrome have symptoms such as fatigue or night sweats. Some affected individuals have no symptoms, and the condition is discovered through routine blood tests.
8p11 myeloproliferative syndrome is caused by rearrangements of genetic material (translocations) between two chromosomes. All of the translocations that cause this condition involve the FGFR1 gene, which is found on the short (p) arm of chromosome 8 at a position described as p11. The translocations lead to fusion of part of the FGFR1 gene with part of another gene; the most common partner gene is ZMYM2 on chromosome 13. These genetic changes are found only in cancer cells.  The protein normally produced from the FGFR1 gene can trigger a cascade of chemical reactions that instruct the cell to undergo certain changes, such as growing and dividing. This signaling is turned on when the FGFR1 protein interacts with growth factors. In contrast, when the FGFR1 gene is fused with another gene, FGFR1 signaling is turned on without the need for stimulation by growth factors. The uncontrolled signaling promotes continuous cell growth and division, leading to cancer.  Researchers believe the mutations that cause this condition occur in a very early blood cell called a stem cell that has the ability to mature into either a myeloid cell or a lymphoid cell. For this reason, this condition is sometimes referred to as stem cell leukemia/lymphoma.
These resources address the diagnosis or management of 8p11 myeloproliferative syndrome:  - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis  - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options  - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Diagnosis  - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Treatment Options  - Genetic Testing Registry: Chromosome 8p11 myeloproliferative 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
Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). These molecules transport triglycerides and cholesterol throughout the body. In people with hepatic lipase deficiency, the LDL molecules are often abnormally large.  Normally, high levels of HDL (known as "good cholesterol") and low levels of LDL (known as "bad cholesterol") are protective against an accumulation of fatty deposits on the artery walls (atherosclerosis) and heart disease. However, some individuals with hepatic lipase deficiency, who have this imbalance of HDL and LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do not. It is unknown whether people with hepatic lipase deficiency have a greater risk of developing atherosclerosis or heart disease than individuals in the general population. Similarly, it is unclear how increased blood triglycerides and cholesterol levels affect the risk of atherosclerosis and heart disease in people with hepatic lipase deficiency.
Hepatic lipase deficiency is caused by mutations in the LIPC gene. This gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps convert very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs) to LDLs. The enzyme also assists in transporting HDLs that carry cholesterol and triglycerides from the blood to the liver, where the HDLs deposit these fats so they can be redistributed to other tissues or removed from the body.  LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result, VLDLs and IDLs are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglycerides remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency.
These resources address the diagnosis or management of hepatic lipase deficiency:  - Genetic Testing Registry: Hepatic lipase deficiency  - MedlinePlus Encyclopedia: Cholesterol Testing and Results  - MedlinePlus Encyclopedia: Triglyceride Level   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
C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood.  The kidney problems associated with C3 glomerulopathy tend to worsen over time. About half of affected individuals develop end-stage renal disease (ESRD) within 10 years after their diagnosis. ESRD is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.  Researchers have identified two major forms of C3 glomerulopathy: dense deposit disease and C3 glomerulonephritis. Although the two disorders cause similar kidney problems, the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. However, the signs and symptoms of either disease may not begin until adulthood.  One of the two forms of C3 glomerulopathy, dense deposit disease, can also be associated with other conditions unrelated to kidney function. For example, people with dense deposit disease may have acquired partial lipodystrophy, a condition characterized by a lack of fatty (adipose) tissue under the skin in the upper part of the body. Additionally, some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the back of the eye (the retina). These deposits usually appear in childhood or adolescence and can cause vision problems later in life.
C3 glomerulopathy is associated with changes in many genes. Most of these genes provide instructions for making proteins that help regulate a part of the body's immune response known as the complement system. This system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. The complement system must be carefully regulated so it targets only unwanted materials and does not damage the body's healthy cells.  A specific mutation in one of the complement system-related genes, CFHR5, has been found to cause C3 glomerulopathy in people from the Mediterranean island of Cyprus. Mutation in the C3 and CFH genes, as well as other complement system-related genes, have been found to cause the condition in other populations. The known mutations account for only a small percentage of all cases of C3 glomerulopathy. In most cases, the cause of the condition is unknown.  Several normal variants (polymorphisms) in complement system-related genes are associated with an increased likelihood of developing C3 glomerulopathy. In some cases, the increased risk is related to a group of specific variants in several genes, a combination known as a C3 glomerulopathy at-risk haplotype. While these polymorphisms increase the risk of C3 glomerulopathy, many people who inherit these genetic changes will never develop the condition.  The genetic changes related to C3 glomerulopathy "turn up," or increase the activation of, the complement system. The overactive system damages structures called glomeruli in the kidneys. These structures are clusters of tiny blood vessels that help filter waste products from the blood. Damage to glomeruli prevents the kidneys from filtering waste products normally and can lead to ESRD. Studies suggest that uncontrolled activation of the complement system also causes the other health problems that can occur with dense deposit disease, including acquired partial lipodystrophy and a buildup of drusen in the retina. Researchers are working to determine how these associated health problems are related to overactivity of the complement system.  Studies suggest that C3 glomerulopathy can also result from the presence of specialized proteins called autoantibodies. Autoantibodies cause the condition by altering the activity of proteins involved in regulating the complement system.
Most cases of C3 glomerulopathy are sporadic, which means they occur in people with no history of the disorder in their family. Only a few reported families have had more than one family member with C3 glomerulopathy. However, many affected people have had close relatives with autoimmune diseases, which occur when the immune system malfunctions and attacks the body's tissues and organs. The connection between C3 glomerulopathy and autoimmune diseases is not fully understood.
These resources address the diagnosis or management of C3 glomerulopathy:  - Gene Review: Gene Review: Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II  - Genetic Testing Registry: C3 Glomerulonephritis  - Genetic Testing Registry: CFHR5 deficiency  - Genetic Testing Registry: CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II  - Genetic Testing Registry: Factor H deficiency  - Genetic Testing Registry: Mesangiocapillary glomerulonephritis, type II  - National Institute of Diabetes and Digestive and Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You   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
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect.  Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.  In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the nerves do not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.
Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown.  Changes in dozens of genes in individuals with spina bifida and in their mothers may influence the risk of developing this type of neural tube defect. The best-studied of these genes is MTHFR, which provides instructions for making a protein that is involved in processing the vitamin folate (also called vitamin B9). A shortage (deficiency) of this vitamin is an established risk factor for neural tube defects. Changes in other genes related to folate processing and genes involved in the development of the neural tube have also been studied as potential risk factors for spina bifida. However, none of these genes appears to play a major role in causing the condition.  Researchers have also examined environmental factors that could contribute to the risk of spina bifida. As mentioned above, folate deficiency appears to play a significant role. Studies have shown that women who take supplements containing folic acid (the synthetic form of folate) before they get pregnant and very early in their pregnancy are significantly less likely to have a baby with spina bifida or a related neural tube defect. Other possible maternal risk factors for spina bifida include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of spina bifida.
These resources address the diagnosis or management of spina bifida:  - Benioff Children's Hospital, University of California, San Francisco: Treatment of Spina Bifida  - Centers for Disease Control and Prevention: Living with Spina Bifida  - GeneFacts: Spina Bifida: Diagnosis  - GeneFacts: Spina Bifida: Management  - Genetic Testing Registry: Neural tube defect  - Genetic Testing Registry: Neural tube defects, folate-sensitive  - Spina Bifida Association: Urologic Care and Management  - University of California, San Francisco Fetal Treatment Center   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
Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures).  People with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. Some individuals with mandibuloacral dysplasia have metabolic problems, such as diabetes.  A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two types of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may build up around the neck and shoulders. Type B is a generalized lipodystrophy, with loss of fatty tissue in the face, torso, and limbs.  MADA usually begins in adulthood, although children can be affected. MADB begins earlier, often just after birth. Many babies with MADB are born prematurely.
The two forms of mandibuloacral dysplasia are caused by mutations in different genes. Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes.  The LMNA gene provides instructions for making two related proteins, lamin A and lamin C. These proteins act as scaffolding (supporting) components of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus and may help regulate the activity of certain genes. Mutations in this gene likely change the structure of lamin A and lamin C.  The lamin A protein (but not lamin C) must be processed within the cell before becoming part of the nuclear envelope. The protein produced from the ZMPSTE24 gene is involved in this processing; it cuts the immature lamin A protein (prelamin A) at a particular location, forming mature lamin A. Mutations in the ZMPSTE24 gene lead to a buildup of prelamin A and a shortage of the mature protein.  Mutations in the LMNA or ZMPSTE24 gene likely disrupt the structure of the nuclear envelope. Researchers are working to understand how these genetic changes result in the signs and symptoms of mandibuloacral dysplasia.