Druvith/medqa1 huggingface dataset:
Question:  What are the genetic changes related to pseudoachondroplasia ?
Answer: Mutations in the COMP gene cause pseudoachondroplasia. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.  The COMP protein is normally found in the spaces between cartilage-forming cells called chondrocytes, where it interacts with other proteins. COMP gene mutations result in the production of an abnormal COMP protein that cannot be transported out of the cell. The abnormal protein builds up inside the chondrocyte and ultimately leads to early cell death. Early death of the chondrocytes prevents normal bone growth and causes the short stature and bone abnormalities seen in pseudoachondroplasia.
Question:  Is pseudoachondroplasia inherited ?
Answer: Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  In some cases, an affected person inherits the mutation from one affected parent. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question:  What are the treatments for pseudoachondroplasia ?
Answer: These resources address the diagnosis or management of pseudoachondroplasia:  - Gene Review: Gene Review: Pseudoachondroplasia  - Genetic Testing Registry: Pseudoachondroplastic spondyloepiphyseal dysplasia 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) lacrimo-auriculo-dento-digital syndrome ?
Answer: Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).  The lacrimal system consists of structures in the eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects the inside corner of the eye where tears gather (tear sac) to the nasal cavity. These malformations of the lacrimal system can lead to chronic tearing (epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the front surface of the eye (keratoconjunctivitis), or an inability to produce tears.  Ears that are low-set and described as cup-shaped, often accompanied by hearing loss, are a common feature of LADD syndrome. The hearing loss may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss).  People with LADD syndrome may have underdeveloped or absent salivary glands, which impairs saliva production. A decrease in saliva leads to dry mouth (xerostomia) and a greater susceptibility to cavities. Individuals with LADD syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped front teeth (incisors).  Hand deformities are also a frequent feature of LADD syndrome. Affected individuals may have abnormally small or missing thumbs. Alternatively, the thumb might be duplicated, fused with the index finger (syndactyly), abnormally placed, or have three bones instead of the normal two and resemble a finger. Abnormalities of the fingers include syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). Sometimes, the forearm is also affected. It can be shorter than normal with abnormal wrist and elbow joint development that limits movement.  People with LADD syndrome may also experience other signs and symptoms. They can have kidney problems that include hardening of the kidneys (nephrosclerosis) and urine accumulation in the kidneys (hydronephrosis), which can impair kidney function. Recurrent urinary tract infections and abnormalities of the genitourinary system can also occur. Some people with LADD syndrome have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). The signs and symptoms of this condition vary widely, even among affected family members.
Question:  How many people are affected by lacrimo-auriculo-dento-digital syndrome ?
Answer: LADD syndrome appears to be a rare condition; at least 60 cases have been described in the scientific literature.
Question:  What are the genetic changes related to lacrimo-auriculo-dento-digital syndrome ?
Answer: Mutations in the FGFR2, FGFR3, or FGF10 gene can cause LADD syndrome.  The FGFR2 and FGFR3 genes provide instructions for making proteins that are part of a family called fibroblast growth factor receptors. The FGF10 gene provides instructions for making a protein called a fibroblast growth factor, which is a family of proteins that attaches (binds) to fibroblast growth factor receptors. The receptors are located within the membranes of cells, where they receive signals that control growth and development from growth factors outside the cell. The signals triggered by the FGFR2, FGFR3, and FGF10 genes appear to stimulate cells to form the structures that make up the lacrimal glands, salivary glands, ears, skeleton, and many other organs.  Mutations in the FGFR2, FGFR3, or FGF10 gene alter the proteins produced from these genes and disrupt the signaling within cells. As a result, cell maturation and development is impaired and the formation of many tissues is affected, leading to the signs and symptoms of LADD syndrome.
Question:  Is lacrimo-auriculo-dento-digital syndrome inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means a mutation in one copy of the FGFR2, FGFR3, or FGF10 gene in each cell is sufficient to cause the disorder.  In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question:  What are the treatments for lacrimo-auriculo-dento-digital syndrome ?
Answer: These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome:  - American Academy of Ophthalmology: The Tearing Patient  - Cincinnati Children's Hospital: Tear Duct Probing and Irrigation  - Cleveland Clinic: Dry Eyes  - Cleveland Clinic: Dry Mouth Treatment  - Genetic Testing Registry: Levy-Hollister syndrome  - Monroe Carell Jr. Children's Hospital at Vanderbilt: Blocked Tear Duct (Dacryostenosis)   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) alternating hemiplegia of childhood ?
Answer: Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days.  In addition to paralysis, affected individuals can have sudden attacks of uncontrollable muscle activity; these can cause involuntary limb movements (choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), or shortness of breath (dyspnea). People with alternating hemiplegia of childhood may also experience sudden redness and warmth (flushing) or unusual paleness (pallor) of the skin. These attacks can occur during or separately from episodes of hemiplegia.  The episodes of hemiplegia or uncontrolled movements can be triggered by certain factors, such as stress, extreme tiredness, cold temperatures, or bathing, although the trigger is not always known. A characteristic feature of alternating hemiplegia of childhood is that all symptoms disappear while the affected person is sleeping but can reappear shortly after awakening. The number and length of the episodes initially worsen throughout childhood but then begin to decrease over time. The uncontrollable muscle movements may disappear entirely, but the episodes of hemiplegia occur throughout life.  Alternating hemiplegia of childhood also causes mild to severe cognitive problems. Almost all affected individuals have some level of developmental delay and intellectual disability. Their cognitive functioning typically declines over time.
Question:  How many people are affected by alternating hemiplegia of childhood ?
Answer: Alternating hemiplegia of childhood is a rare condition that affects approximately 1 in 1 million people.
Question:  What are the genetic changes related to alternating hemiplegia of childhood ?
Answer: Alternating hemiplegia of childhood is primarily caused by mutations in the ATP1A3 gene. Very rarely, a mutation in the ATP1A2 gene is involved in the condition. These genes provide instructions for making very similar proteins. They function as different forms of one piece, the alpha subunit, of a larger protein complex called Na+/K+ ATPase; the two versions of the complex are found in different parts of the brain. Both versions play a critical role in the normal function of nerve cells (neurons). Na+/K+ ATPase transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement.  Mutations in the ATP1A3 or ATP1A2 gene reduce the activity of the Na+/K+ ATPase, impairing its ability to transport ions normally. It is unclear how a malfunctioning Na+/K+ ATPase causes the episodes of paralysis or uncontrollable movements characteristic of alternating hemiplegia of childhood.
Question:  Is alternating hemiplegia of childhood inherited ?
Answer: Alternating hemiplegia of childhood is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of alternating hemiplegia of childhood result from new mutations in the gene and occur in people with no history of the disorder in their family. However, the condition can also run in families. For unknown reasons, the signs and symptoms are typically milder when the condition is found in multiple family members than when a single individual is affected.
Question:  What are the treatments for alternating hemiplegia of childhood ?
Answer: These resources address the diagnosis or management of alternating hemiplegia of childhood:  - The Great Ormond Street Hospital  - University of Utah School of Medicine   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) progressive familial intrahepatic cholestasis ?
Answer: Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.  Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).  There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.  In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.  The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.  Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.
Question:  How many people are affected by progressive familial intrahepatic cholestasis ?
Answer: PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC type 1 is much more common in the Inuit population of Greenland and the Old Order Amish population of the United States.
Question:  What are the genetic changes related to progressive familial intrahepatic cholestasis ?
Answer: Mutations in the ATP8B1, ABCB11, and ABCB4 genes can cause PFIC.  ATP8B1 gene mutations cause PFIC1. The ATP8B1 gene provides instructions for making a protein that helps to maintain an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. In its role in maintaining bile acid homeostasis, some researchers believe that the ATP8B1 protein is involved in moving certain fats across cell membranes. Mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells, damaging these cells and causing liver disease. The ATP8B1 protein is found throughout the body, but it is unclear how a lack of this protein causes short stature, deafness, and other signs and symptoms of PFIC1.  Mutations in the ABCB11 gene are responsible for PFIC2. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. Mutations in the ABCB11 gene result in the buildup of bile salts in liver cells, damaging these cells and causing liver disease.  ABCB4 gene mutations cause PFIC3. The ABCB4 gene provides instructions for making a protein that moves certain fats called phospholipids across cell membranes. Outside liver cells, phospholipids attach (bind) to bile acids. Large amounts of bile acids can be toxic when they are not bound to phospholipids. Mutations in the ABCB4 gene lead to a lack of phospholipids available to bind to bile acids. A buildup of free bile acids damages liver cells and leads to liver disease.  Some people with PFIC do not have a mutation in the ATP8B1, ABCB11, or ABCB4 gene. In these cases, the cause of the condition is unknown.
Question:  Is progressive familial intrahepatic cholestasis 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 progressive familial intrahepatic cholestasis ?
Answer: These resources address the diagnosis or management of progressive familial intrahepatic cholestasis:  - Gene Review: Gene Review: ATP8B1 Deficiency  - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 2  - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 3  - Genetic Testing Registry: Progressive intrahepatic cholestasis  - MedlinePlus Encyclopedia: Cholestasis  - MedlinePlus Encyclopedia: Hepatocellular Carcinoma   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) megalencephalic leukoencephalopathy with subcortical cysts ?
Answer: Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. Megalencephaly leads to an increase in the size of the head (macrocephaly). Affected people also have leukoencephalopathy, an abnormality of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In megalencephalic leukoencephalopathy with subcortical cysts, the myelin is swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy). Individuals affected with this condition may develop cysts in the brain; because these cysts form below an area of the brain called the cerebral cortex, they are called subcortical cysts. These cysts can grow in size and number.  The brain abnormalities in people with megalencephalic leukoencephalopathy with subcortical cysts affect the use of muscles and lead to movement problems. Affected individuals typically experience muscle stiffness (spasticity) and difficulty coordinating movements (ataxia). Walking ability varies greatly among those affected. Some people lose the ability to walk early in life and need wheelchair assistance, while others are able to walk unassisted well into adulthood. Minor head trauma can further impair movements and may lead to coma. Affected individuals may also develop uncontrolled muscle tensing (dystonia), involuntary writhing movements of the limbs (athetosis), difficulty swallowing (dysphagia), and impaired speech (dysarthria). More than half of all people with this condition have recurrent seizures (epilepsy). Despite the widespread brain abnormalities, people with this condition typically have only mild to moderate intellectual disability.  There are three types of megalencephalic leukoencephalopathy with subcortical cysts, which are distinguished by their signs and symptoms and genetic cause. Types 1 and 2A have different genetic causes but are nearly identical in signs and symptoms. Types 2A and 2B have the same genetic cause but the signs and symptoms of type 2B often begin to improve after one year. After improvement, individuals with type 2B usually have macrocephaly and may have intellectual disability.
Question:  How many people are affected by megalencephalic leukoencephalopathy with subcortical cysts ?
Answer: Megalencephalic leukoencephalopathy with subcortical cysts is a rare condition; its exact prevalence is unknown. More than 150 cases have been reported in the scientific literature.
Question:  What are the genetic changes related to megalencephalic leukoencephalopathy with subcortical cysts ?
Answer: Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. The MLC1 gene provides instructions for producing a protein that is made primarily in the brain. The MLC1 protein is found in astroglial cells, which are a specialized form of brain cells called glial cells. Glial cells protect and maintain other nerve cells (neurons). The MLC1 protein functions at junctions that connect neighboring astroglial cells. The role of the MLC1 protein at the cell junction is unknown, but research suggests that it may control the flow of fluids into cells or the strength of cells' attachment to one another (cell adhesion).  Mutations in the HEPACAM gene cause megalencephalic leukoencephalopathy with subcortical cysts types 2A and 2B; together, these types account for 20 percent of all cases. The HEPACAM gene provides instructions for making a protein called GlialCAM. This protein primarily functions in the brain, particularly in glial cells. GlialCAM attaches (binds) to other GlialCAM proteins or to the MLC1 protein and guides them to cell junctions. The function of GlialCAM at the cell junction is unclear.  Most MLC1 gene mutations alter the structure of the MLC1 protein or prevent the cell from producing any of this protein, leading to a lack of functional MLC1 protein at the astroglial cell junctions. HEPACAM gene mutations lead to a protein that is unable to correctly transport GlialCAM and MLC1 proteins to cell junctions. It is unknown how a lack of functional MLC1 or GlialCAM protein at cell junctions in the brain impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts.  Approximately 5 percent of people with megalencephalic leukoencephalopathy with subcortical cysts do not have identified mutations in the MLC1 or HEPACAM gene. In these individuals, the cause of the disorder is unknown.
Question:  Is megalencephalic leukoencephalopathy with subcortical cysts inherited ?
Answer: All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a 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.  Megalencephalic leukoencephalopathy with subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered HEPACAM gene in each cell is sufficient to cause the disorder. Most cases of type 2B result from new (de novo) mutations in the HEPACAM gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Question:  What are the treatments for megalencephalic leukoencephalopathy with subcortical cysts ?
Answer: These resources address the diagnosis or management of megalencephalic leukoencephalopathy with subcortical cysts:  - Gene Review: Gene Review: Megalencephalic Leukoencephalopathy with Subcortical Cysts  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 1  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2a  - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation  - MedlinePlus Encyclopedia: Myelin   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