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What is (are) spastic paraplegia type 8 ? | Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and ... | spastic paraplegia type 8 |
How many people are affected by spastic paraplegia type 8 ? | The prevalence of all hereditary spastic paraplegias combined is estimated to be 1 to 18 in 100,000 people worldwide. Spastic paraplegia type 8 likely accounts for only a small percentage of all spastic paraplegia cases. | spastic paraplegia type 8 |
What are the genetic changes related to spastic paraplegia type 8 ? | Mutations in the KIAA0196 gene cause spastic paraplegia type 8. The KIAA0196 gene provides instructions for making a protein called strumpellin. Strumpellin is active (expressed) throughout the body, although its exact function is unknown. The protein's structure suggests that strumpellin may interact with the structur... | spastic paraplegia type 8 |
Is spastic paraplegia type 8 inherited ? | Spastic paraplegia type 8 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 most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people wit... | spastic paraplegia type 8 |
What are the treatments for spastic paraplegia type 8 ? | These resources address the diagnosis or management of spastic paraplegia type 8: - Gene Review: Gene Review: Spastic Paraplegia 8 - Genetic Testing Registry: Spastic paraplegia 8 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis ... | spastic paraplegia type 8 |
What is (are) arginase deficiency ? | Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effe... | arginase deficiency |
How many people are affected by arginase deficiency ? | Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals. | arginase deficiency |
What are the genetic changes related to arginase deficiency ? | Mutations in the ARG1 gene cause arginase deficiency. Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called... | arginase deficiency |
Is arginase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | arginase deficiency |
What are the treatments for arginase deficiency ? | These resources address the diagnosis or management of arginase deficiency: - Baby's First Test - Gene Review: Gene Review: Arginase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Arginase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality T... | arginase deficiency |
What is (are) primary sclerosing cholangitis ? | Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of i... | primary sclerosing cholangitis |
How many people are affected by primary sclerosing cholangitis ? | An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide. | primary sclerosing cholangitis |
What are the genetic changes related to primary sclerosing cholangitis ? | Primary sclerosing cholangitis is thought to arise from a combination of genetic and environmental factors. Researchers believe that genetic changes play a role in this condition because it often occurs in several members of a family and because immediate family members of someone with primary sclerosing cholangitis ha... | primary sclerosing cholangitis |
Is primary sclerosing cholangitis inherited ? | The inheritance pattern of primary sclerosing cholangitis is unknown because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a risk factor for developing the disease. | primary sclerosing cholangitis |
What are the treatments for primary sclerosing cholangitis ? | These resources address the diagnosis or management of primary sclerosing cholangitis: - American Liver Foundation: Primary Sclerosing Cholangitis (PSC) - Genetic Testing Registry: Primary sclerosing cholangitis - MedlinePlus Encyclopedia: Sclerosing Cholangitis - University of California San Francisco Medical Cent... | primary sclerosing cholangitis |
What is (are) Snyder-Robinson syndrome ? | Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males. Males with Snyder-Robinson syndrome have delayed development and intellectual disability beginning in early childhood. The intellectual d... | Snyder-Robinson syndrome |
How many people are affected by Snyder-Robinson syndrome ? | Snyder-Robinson syndrome is a rare condition; its prevalence is unknown. About 10 affected families have been identified worldwide. | Snyder-Robinson syndrome |
What are the genetic changes related to Snyder-Robinson syndrome ? | Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines have many critical functions within cells. Studies sugge... | Snyder-Robinson syndrome |
Is Snyder-Robinson syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | Snyder-Robinson syndrome |
What are the treatments for Snyder-Robinson syndrome ? | These resources address the diagnosis or management of Snyder-Robinson syndrome: - Gene Review: Gene Review: Snyder-Robinson Syndrome - Genetic Testing Registry: Snyder Robinson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... | Snyder-Robinson syndrome |
What is (are) Townes-Brocks Syndrome ? | Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two o... | Townes-Brocks Syndrome |
How many people are affected by Townes-Brocks Syndrome ? | The prevalence of this condition is unknown, although one study estimated that it may affect 1 in 250,000 people. It is difficult to determine how frequently Townes-Brocks syndrome occurs because the varied signs and symptoms of this disorder overlap with those of other genetic syndromes. | Townes-Brocks Syndrome |
What are the genetic changes related to Townes-Brocks Syndrome ? | Mutations in the SALL1 gene cause Townes-Brocks Syndrome. The SALL1 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bi... | Townes-Brocks Syndrome |
Is Townes-Brocks Syndrome inherited ? | 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. | Townes-Brocks Syndrome |
What are the treatments for Townes-Brocks Syndrome ? | These resources address the diagnosis or management of Townes-Brocks Syndrome: - Gene Review: Gene Review: Townes-Brocks Syndrome - Genetic Testing Registry: Townes syndrome - MedlinePlus Encyclopedia: Ear Disorders (image) - MedlinePlus Encyclopedia: Imperforate Anus These resources from MedlinePlus offer inform... | Townes-Brocks Syndrome |
What is (are) Potocki-Shaffer syndrome ? | Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also h... | Potocki-Shaffer syndrome |
How many people are affected by Potocki-Shaffer syndrome ? | Potocki-Shaffer syndrome is a rare condition, although its prevalence is unknown. Fewer than 100 cases have been reported in the scientific literature. | Potocki-Shaffer syndrome |
What are the genetic changes related to Potocki-Shaffer syndrome ? | Potocki-Shaffer syndrome (also known as proximal 11p deletion syndrome) is caused by a deletion of genetic material from the short (p) arm of chromosome 11 at a position designated 11p11.2. The size of the deletion varies among affected individuals. Studies suggest that the full spectrum of features is caused by a dele... | Potocki-Shaffer syndrome |
Is Potocki-Shaffer syndrome inherited ? | Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a deleted segment from an affected parent. More commonly, the conditio... | Potocki-Shaffer syndrome |
What are the treatments for Potocki-Shaffer syndrome ? | These resources address the diagnosis or management of Potocki-Shaffer syndrome: - Genetic Testing Registry: Potocki-Shaffer syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ... | Potocki-Shaffer syndrome |
What is (are) tyrosinemia ? | Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems. There are three types of tyrosinemia,... | tyrosinemia |
How many people are affected by tyrosinemia ? | Worldwide, tyrosinemia type I affects about 1 in 100,000 individuals. This type is more common in Norway where 1 in 60,000 to 74,000 individuals are affected. Tyrosinemia type I is even more common in Quebec, Canada where it occurs in about 1 in 16,000 individuals. In the Saguenay-Lac St. Jean region of Quebec, tyrosin... | tyrosinemia |
What are the genetic changes related to tyrosinemia ? | Mutations in the FAH, TAT, and HPD genes can cause tyrosinemia types I, II, and III, respectively. In the liver, enzymes break down tyrosine in a five step process, resulting in molecules that are either excreted by the kidneys or used to produce energy or make other substances in the body. The FAH gene provides instr... | tyrosinemia |
Is tyrosinemia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | tyrosinemia |
What are the treatments for tyrosinemia ? | These resources address the diagnosis or management of tyrosinemia: - Baby's First Test: Tyrosinemia, Type I - Baby's First Test: Tyrosinemia, Type II - Baby's First Test: Tyrosinemia, Type III - Gene Review: Gene Review: Tyrosinemia Type I - Genetic Testing Registry: 4-Hydroxyphenylpyruvate dioxygenase deficiency... | tyrosinemia |
What is (are) Angelman syndrome ? | Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epile... | Angelman syndrome |
How many people are affected by Angelman syndrome ? | Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people. | Angelman syndrome |
What are the genetic changes related to Angelman syndrome ? | Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. In certain areas of the brain, however, only the copy inhe... | Angelman syndrome |
Is Angelman syndrome inherited ? | Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typicall... | Angelman syndrome |
What are the treatments for Angelman syndrome ? | These resources address the diagnosis or management of Angelman syndrome: - Gene Review: Gene Review: Angelman Syndrome - Genetic Testing Registry: Angelman syndrome - MedlinePlus Encyclopedia: Speech Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health ... | Angelman syndrome |
What is (are) deafness-dystonia-optic neuronopathy syndrome ? | Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjrg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males. The first symptom of DDON syndrome is hearing loss ... | deafness-dystonia-optic neuronopathy syndrome |
How many people are affected by deafness-dystonia-optic neuronopathy syndrome ? | DDON syndrome is a rare disorder; it has been reported in fewer than 70 people worldwide. | deafness-dystonia-optic neuronopathy syndrome |
What are the genetic changes related to deafness-dystonia-optic neuronopathy syndrome ? | Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. This complex functions by transporting other ... | deafness-dystonia-optic neuronopathy syndrome |
Is deafness-dystonia-optic neuronopathy syndrome inherited ? | DDON syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have tw... | deafness-dystonia-optic neuronopathy syndrome |
What are the treatments for deafness-dystonia-optic neuronopathy syndrome ? | These resources address the diagnosis or management of deafness-dystonia-optic neuronopathy syndrome: - Gene Review: Gene Review: Deafness-Dystonia-Optic Neuronopathy Syndrome - Genetic Testing Registry: Mohr-Tranebjaerg syndrome These resources from MedlinePlus offer information about the diagnosis and management ... | deafness-dystonia-optic neuronopathy syndrome |
What is (are) myosin storage myopathy ? | Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy ... | myosin storage myopathy |
How many people are affected by myosin storage myopathy ? | Myosin storage myopathy is a rare condition. Its prevalence is unknown. | myosin storage myopathy |
What are the genetic changes related to myosin storage myopathy ? | Mutations in the MYH7 gene cause myosin storage myopathy. The MYH7 gene provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers, one of two types of fibers that make up the muscles that the body uses... | myosin storage myopathy |
Is myosin storage myopathy inherited ? | 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. | myosin storage myopathy |
What are the treatments for myosin storage myopathy ? | These resources address the diagnosis or management of myosin storage myopathy: - Genetic Testing Registry: Myosin storage myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... | myosin storage myopathy |
What is (are) Troyer syndrome ? | Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. T... | Troyer syndrome |
How many people are affected by Troyer syndrome ? | About 20 cases of Troyer syndrome have been reported in the Old Order Amish population of Ohio. It has not been found outside this population. | Troyer syndrome |
What are the genetic changes related to Troyer syndrome ? | Troyer syndrome is caused by a mutation in the SPG20 gene. The SPG20 gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from t... | Troyer syndrome |
Is Troyer syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | Troyer syndrome |
What are the treatments for Troyer syndrome ? | These resources address the diagnosis or management of Troyer syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Troyer Syndrome - Genetic Testing Registry: Troyer syndrome - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from Me... | Troyer syndrome |
What is (are) Wolf-Hirschhorn syndrome ? | Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat... | Wolf-Hirschhorn syndrome |
How many people are affected by Wolf-Hirschhorn syndrome ? | The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births. However, this may be an underestimate because it is likely that some affected individuals are never diagnosed. For unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females as males. | Wolf-Hirschhorn syndrome |
What are the genetic changes related to Wolf-Hirschhorn syndrome ? | Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disabi... | Wolf-Hirschhorn syndrome |
Is Wolf-Hirschhorn syndrome inherited ? | Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. More complex chromosomal rearrangements can also occur as de... | Wolf-Hirschhorn syndrome |
What are the treatments for Wolf-Hirschhorn syndrome ? | These resources address the diagnosis or management of Wolf-Hirschhorn syndrome: - Gene Review: Gene Review: Wolf-Hirschhorn Syndrome - Genetic Testing Registry: 4p partial monosomy syndrome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management o... | Wolf-Hirschhorn syndrome |
What is (are) hereditary pancreatitis ? | Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tis... | hereditary pancreatitis |
How many people are affected by hereditary pancreatitis ? | Hereditary pancreatitis is thought to be a rare condition. In Europe, its prevalence is estimated to be 3 to 6 per million individuals. | hereditary pancreatitis |
What are the genetic changes related to hereditary pancreatitis ? | Mutations in the PRSS1 gene cause most cases of hereditary pancreatitis. The PRSS1 gene provides instructions for making an enzyme called cationic trypsinogen. This enzyme is produced in the pancreas and helps with the digestion of food. When cationic trypsinogen is needed, it is released (secreted) from the pancreas a... | hereditary pancreatitis |
Is hereditary pancreatitis inherited ? | When hereditary pancreatitis is caused by mutations in the PRSS1 gene, it 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 PRSS1 gene mutation from one affected parent. Other cases res... | hereditary pancreatitis |
What are the treatments for hereditary pancreatitis ? | These resources address the diagnosis or management of hereditary pancreatitis: - Encyclopedia: Chronic Pancreatitis - Gene Review: Gene Review: PRSS1-Related Hereditary Pancreatitis - Gene Review: Gene Review: Pancreatitis Overview - Genetic Testing Registry: Hereditary pancreatitis - Johns Hopkins Medicine: Trea... | hereditary pancreatitis |
What is (are) alternating hemiplegia of childhood ? | 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 begi... | alternating hemiplegia of childhood |
How many people are affected by alternating hemiplegia of childhood ? | Alternating hemiplegia of childhood is a rare condition that affects approximately 1 in 1 million people. | alternating hemiplegia of childhood |
What are the genetic changes related to alternating hemiplegia of childhood ? | 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 compl... | alternating hemiplegia of childhood |
Is alternating hemiplegia of childhood inherited ? | 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 the... | alternating hemiplegia of childhood |
What are the treatments for alternating hemiplegia of childhood ? | 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 Thera... | alternating hemiplegia of childhood |
What is (are) Partington syndrome ? | Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The intellectual disabil... | Partington syndrome |
How many people are affected by Partington syndrome ? | The prevalence of Partington syndrome is unknown. About 20 cases have been described in the medical literature. | Partington syndrome |
What are the genetic changes related to Partington syndrome ? | Partington syndrome is caused by mutations in the ARX gene. This gene provides instructions for producing a protein that regulates the activity of other genes. Within the developing brain, the ARX protein is involved with movement (migration) and communication of nerve cells (neurons). In particular, this protein regul... | Partington syndrome |
Is Partington syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | Partington syndrome |
What are the treatments for Partington syndrome ? | These resources address the diagnosis or management of Partington syndrome: - American Academy of Child and Adolescent Psychiatry: Services in School for Children with Special Needs - American Academy of Pediatrics: What is a Developmental/Behavioral Pediatrician? - Centers for Disease Control and Prevention: Develo... | Partington syndrome |
What is (are) Ewing sarcoma ? | Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related beca... | Ewing sarcoma |
How many people are affected by Ewing sarcoma ? | Approximately 3 per 1 million children each year are diagnosed with a Ewing sarcoma. It is estimated that, in the United States, 250 children are diagnosed with one of these types of tumor each year. Ewing sarcoma accounts for about 1.5 percent of all childhood cancers, and it is the second most common type of bone tum... | Ewing sarcoma |
What are the genetic changes related to Ewing sarcoma ? | The most common mutation that causes Ewing sarcoma involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. A rearrangement (translocation) of genetic material between chromosomes 22 and 11, written as t(11;22), fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/F... | Ewing sarcoma |
Is Ewing sarcoma inherited ? | This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. | Ewing sarcoma |
What are the treatments for Ewing sarcoma ? | These resources address the diagnosis or management of Ewing sarcoma: - Cancer.Net: Ewing Family of Tumors - Childhood: Diagnosis - Cancer.Net: Ewing Family of Tumors - Childhood: Treatment - Genetic Testing Registry: Ewing's sarcoma - MedlinePlus Encyclopedia: Ewing Sarcoma These resources from MedlinePlus offer... | Ewing sarcoma |
What is (are) Tay-Sachs disease ? | Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscl... | Tay-Sachs disease |
How many people are affected by Tay-Sachs disease ? | Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian c... | Tay-Sachs disease |
What are the genetic changes related to Tay-Sachs disease ? | Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recy... | Tay-Sachs disease |
Is Tay-Sachs disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | Tay-Sachs disease |
What are the treatments for Tay-Sachs disease ? | These resources address the diagnosis or management of Tay-Sachs disease: - Gene Review: Gene Review: Hexosaminidase A Deficiency - Genetic Testing Registry: Tay-Sachs disease - MedlinePlus Encyclopedia: Tay-Sachs Disease These resources from MedlinePlus offer information about the diagnosis and management of vari... | Tay-Sachs disease |
What is (are) glycogen storage disease type I ? | Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to func... | glycogen storage disease type I |
How many people are affected by glycogen storage disease type I ? | The overall incidence of GSDI is 1 in 100,000 individuals. GSDIa is more common than GSDIb, accounting for 80 percent of all GSDI cases. | glycogen storage disease type I |
What are the genetic changes related to glycogen storage disease type I ? | Mutations in two genes, G6PC and SLC37A4, cause GSDI. G6PC gene mutations cause GSDIa, and SLC37A4 gene mutations cause GSDIb. The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces the simple sugar ... | glycogen storage disease type I |
Is glycogen storage disease type I inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | glycogen storage disease type I |
What are the treatments for glycogen storage disease type I ? | These resources address the diagnosis or management of glycogen storage disease type I: - American Liver Foundation - Canadian Liver Foundation - Gene Review: Gene Review: Glycogen Storage Disease Type I - Genetic Testing Registry: Glucose-6-phosphate transport defect - Genetic Testing Registry: Glycogen storage d... | glycogen storage disease type I |
What is (are) beta thalassemia ? | Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individua... | beta thalassemia |
How many people are affected by beta thalassemia ? | Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia. | beta thalassemia |
What are the genetic changes related to beta thalassemia ? | Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin. Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin. ... | beta thalassemia |
Is beta thalassemia inherited ? | Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB 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... | beta thalassemia |
What are the treatments for beta thalassemia ? | These resources address the diagnosis or management of beta thalassemia: - Gene Review: Gene Review: Beta-Thalassemia - Genetic Testing Registry: Beta-thalassemia, dominant inclusion body type - Genetic Testing Registry: beta Thalassemia - MedlinePlus Encyclopedia: Thalassemia These resources from MedlinePlus off... | beta thalassemia |
What is (are) Leigh syndrome ? | Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of i... | Leigh syndrome |
How many people are affected by Leigh syndrome ? | Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more common in certain populations. For example, the condition occurs in approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of Quebec, Canada. | Leigh syndrome |
What are the genetic changes related to Leigh syndrome ? | Leigh syndrome can be caused by mutations in one of over 30 different genes. In humans, most genes are found in DNA in the cell's nucleus, called nuclear DNA. However, some genes are found in DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA (mtDNA). While mos... | Leigh syndrome |
Is Leigh syndrome inherited ? | Leigh syndrome can have different inheritance patterns. It is most commonly inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. This pattern of inheritance applies to genes contained in nuclear DNA. The parents of an individual with an autosomal recessive condit... | Leigh syndrome |
What are the treatments for Leigh syndrome ? | These resources address the diagnosis or management of Leigh syndrome: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Nuclear Gene-Encoded Leigh Syndrome Overview - Genetic Testing Registry: Leigh Syndrome (mtDNA mutation) - Genetic Testing Registry: Lei... | Leigh syndrome |
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