Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What is (are) congenital hepatic fibrosis ?
Answer: Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various molecules needed by the body and breaking down other molecules so that their components can be used or eliminated. Congenital hepatic fibrosis is characterized by malformation of the bile ducts and of the blood vessels of the hepatic portal system. Bile ducts carry bile (a fluid that helps to digest fats) from the liver to the gallbladder and small intestine. The hepatic portal system is a branching network of veins (portal veins) that carry blood from the gastrointestinal tract to the liver for processing. A buildup of scar tissue (fibrosis) in the portal tracts also occurs in this disorder. Portal tracts are structures in the liver that bundle the vessels through which blood, lymph, and bile flow, and fibrosis in the portal tracts can restrict the normal movement of fluids in these vessels. Lymph is a fluid that helps exchange immune cells, proteins, and other substances between the blood and tissues. Constriction of the portal veins due to malformation and portal tract fibrosis results in high blood pressure in the hepatic portal system (portal hypertension). Portal hypertension impairs the flow of blood from the gastrointestinal tract, causing an increase in pressure in the veins of the esophagus, stomach, and intestines. These veins may stretch and their walls may become thin, leading to a risk of abnormal bleeding. People with congenital hepatic fibrosis have an enlarged liver and spleen (hepatosplenomegaly). The liver is abnormally shaped. Affected individuals also have an increased risk of infection of the bile ducts (cholangitis), hard deposits in the gallbladder or bile ducts (gallstones), and cancer of the liver or gallbladder. Congenital hepatic fibrosis may occur alone, in which case it is called isolated congenital hepatic fibrosis. More frequently, it occurs as a feature of genetic syndromes that also affect the kidneys (the renal system), such as polycystic kidney disease (PKD).
Question: What are the genetic changes related to congenital hepatic fibrosis ?
Answer: Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown. Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include malformation of embryonic structures called ductal plates. Each ductal plate is a cylinder of cells surrounding branches of the portal veins. During development before birth, the ductal plates normally develop into the network of bile ducts. In congenital hepatic fibrosis, the development of the ductal plates does not proceed normally, resulting in the persistence of immature bile ducts. Branching of the portal vein network also proceeds abnormally, and excess fibrous tissue develops in the portal tracts. The malformation of the portal veins and bile ducts disrupts the normal flow of blood and bile, which leads to the progressive signs and symptoms of congenital hepatic fibrosis.
Question: Is congenital hepatic fibrosis inherited ?
Answer: The various syndromes of which congenital hepatic fibrosis is often a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated 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. Rare syndromes involving congenital hepatic fibrosis may be inherited in an X-linked recessive pattern, in which the gene associated with the syndrome is located on the X chromosome, which is one of the two sex chromosomes. In isolated congenital hepatic fibrosis, the inheritance pattern is unknown.
Question: What are the treatments for congenital hepatic fibrosis ?
Answer: These resources address the diagnosis or management of congenital hepatic fibrosis: - Gene Review: Gene Review: Congenital Hepatic Fibrosis Overview - Genetic Testing Registry: Congenital hepatic fibrosis 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: How many people are affected by Dandy-Walker malformation ?
Answer: Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns.
Question: What are the genetic changes related to Dandy-Walker malformation ?
Answer: Researchers have found mutations in a few genes that are thought to cause Dandy-Walker malformation, but these mutations account for only a small number of cases. Dandy-Walker malformation has also been associated with many chromosomal abnormalities. This condition can be a feature of some conditions in which there is an extra copy of one chromosome in each cell (trisomy). Dandy-Walker malformation most often occurs in people with trisomy 18 (an extra copy of chromosome 18), but can also occur in people with trisomy 13, trisomy 21, or trisomy 9. This condition can also be associated with missing (deletions) or copied (duplications) pieces of certain chromosomes. Dandy-Walker malformation can also be a feature of genetic syndromes that are caused by mutations in specific genes. However, the brain malformations associated with Dandy-Walker malformation often occur as an isolated feature (not associated with other health problems), and in these cases the cause is frequently unknown. Research suggests that Dandy-Walker malformation could be caused by environmental factors that affect early development before birth. For example, exposure of the fetus to substances that cause birth defects (teratogens) may be involved in the development of this condition. In addition, a mother with diabetes is more likely than a healthy mother to have a child with Dandy-Walker malformation.
Question: Is Dandy-Walker malformation inherited ?
Answer: Most cases of Dandy-Walker malformation are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases seem to run in families; however, Dandy-Walker malformation does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. First-degree relatives (such as siblings and children) of people with Dandy-Walker malformation have an increased risk of developing the condition compared with people in the general population. When Dandy-Walker malformation is a feature of a genetic condition, it is inherited in the pattern of that condition.
Question: What are the treatments for Dandy-Walker malformation ?
Answer: These resources address the diagnosis or management of Dandy-Walker malformation: - Genetic Testing Registry: Dandy-Walker syndrome - National Hydrocephalus Foundation: Treatment of Hydrocephalus 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) familial hyperaldosteronism ?
Answer: Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure. Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement. There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.
Question: How many people are affected by familial hyperaldosteronism ?
Answer: The prevalence of familial hyperaldosteronism is unknown. Familial hyperaldosteronism type II appears to be the most common variety. All types of familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of hyperaldosteronism.
Question: What are the genetic changes related to familial hyperaldosteronism ?
Answer: The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzymes that are found in the adrenal glands. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme helps produce hormones called cortisol and corticosterone. The CYP11B2 gene provides instructions for making another enzyme called aldosterone synthase, which helps produce aldosterone. When CYP11B1 and CYP11B2 are abnormally fused together, too much aldosterone synthase is produced. This overproduction causes the adrenal glands to make excess aldosterone, which leads to the signs and symptoms of familial hyperaldosteronism type I. Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. In the adrenal glands,the flow of ions through potassium channels produced from the KCNJ5 gene is thought to help regulate the production of aldosterone. Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III. The genetic cause of familial hyperaldosteronism type II is unknown.
Question: Is familial hyperaldosteronism 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.
Question: What are the treatments for familial hyperaldosteronism ?
Answer: These resources address the diagnosis or management of familial hyperaldosteronism: - Genetic Testing Registry: Familial hyperaldosteronism type 1 - Genetic Testing Registry: Familial hyperaldosteronism type 3 - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism - International Registry for Glucocorticoid-Remediable Aldosteronism - MedlinePlus Encyclopedia: Aldosterone 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) Pfeiffer syndrome ?
Answer: Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common. In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly). Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.
Question: How many people are affected by Pfeiffer syndrome ?
Answer: Pfeiffer syndrome affects about 1 in 100,000 individuals.
Question: What are the genetic changes related to Pfeiffer syndrome ?
Answer: Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet. Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene, and have not been associated with changes in the FGFR1 gene.
Question: Is Pfeiffer syndrome 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.
Question: What are the treatments for Pfeiffer syndrome ?
Answer: These resources address the diagnosis or management of Pfeiffer syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Pfeiffer syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Webbing of fingers or toes 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) 3MC syndrome ?
Answer: 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body. The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate). Common features affecting other body systems include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Other features of 3MC syndrome can include abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals. 3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.
Question: How many people are affected by 3MC syndrome ?
Answer: 3MC syndrome is a rare disorder; its exact prevalence is unknown.
Question: What are the genetic changes related to 3MC syndrome ?
Answer: 3MC syndrome is caused by mutations in the COLEC11 or MASP1 gene. These genes provide instructions for making proteins that are involved in a series of reactions called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during early development before birth to form the organs and systems of the body. It appears to be particularly important in directing the migration of neural crest cells, which give rise to various tissues including many tissues in the face and skull, the glands that produce hormones (endocrine glands), and portions of the nervous system. The COLEC11 gene provides instructions for making a protein called CL-K1. Three different proteins, MASP-1, MASP-3, and MAp44 can be produced from the MASP1 gene, depending on how the gene's instructions are pieced together. The MASP1 gene mutations identified in people with 3MC syndrome affect the MASP-3 protein; some affect the MASP-1 protein in addition to MASP-3. COLEC11 and MASP1 gene mutations that cause 3MC syndrome impair or eliminate the function of the corresponding proteins, resulting in faulty control of cell migration in embryonic development and leading to the various abnormalities that occur in this disorder. In some people with 3MC syndrome, no mutations in the COLEC11 or MASP1 gene have been identified. In these individuals, the cause of the disorder is unknown.
Question: Is 3MC syndrome inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Question: What are the treatments for 3MC syndrome ?
Answer: These resources address the diagnosis or management of 3MC syndrome: - Genetic Testing Registry: Carnevale syndrome - Genetic Testing Registry: Craniofacial-ulnar-renal syndrome - Genetic Testing Registry: Malpuech facial clefting syndrome - Genetic Testing Registry: Michels 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
Question: What is (are) methylmalonic acidemia with homocystinuria ?
Answer: Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of the combined condition, methylmalonic acidemia with homocystinuria, usually develop in infancy, although they can begin at any age. When the condition begins early in life, affected individuals typically have an inability to grow and gain weight at the expected rate (failure to thrive), which is sometimes recognized before birth (intrauterine growth retardation). These infants can also have difficulty feeding and an abnormally pale appearance (pallor). Neurological problems are also common in methylmalonic acidemia with homocystinuria, including weak muscle tone (hypotonia) and seizures. Most infants and children with this condition have an unusually small head size (microcephaly), delayed development, and intellectual disability. Less common features of the condition include eye problems and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of methylmalonic acidemia with homocystinuria worsen over time, and the condition can be life-threatening if not treated. When methylmalonic acidemia with homocystinuria begins in adolescence or adulthood, the signs and symptoms usually include psychiatric changes and cognitive problems. Affected individuals can exhibit changes in their behavior and personality; they may become less social and may experience hallucinations, delirium, and psychosis. In addition, these individuals can begin to lose previously acquired mental and movement abilities, resulting in a decline in school or work performance, difficulty controlling movements, memory problems, speech difficulties, a decline in intellectual function (dementia), or an extreme lack of energy (lethargy). Some people with methylmalonic acidemia with homocystinuria whose signs and symptoms begin later in life develop a condition called subacute combined degeneration of the spinal cord, which leads to numbness and weakness in the lower limbs, difficulty walking, and frequent falls.
Question: How many people are affected by methylmalonic acidemia with homocystinuria ?
Answer: The most common form of the condition, called methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns worldwide. Studies indicate that this form of the condition may be even more common in particular populations. These studies estimate the condition occurs in 1 in 100,000 people in New York and 1 in 60,000 people in California. Other types of methylmalonic acidemia with homocystinuria are much less common. Fewer than 20 cases of each of the other types have been reported in the medical literature.