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What is (are) WAGR syndrome ? | WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation). People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidn... | WAGR syndrome |
How many people are affected by WAGR syndrome ? | The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million individuals. It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to WAGR syndrome. | WAGR syndrome |
What are the genetic changes related to WAGR syndrome ? | WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. The size of the deletion varies among affected individuals. The signs and symptoms of WAGR syndrome are related to the loss of multiple genes on the short arm of chromosome 11. WAGR syndrome is often described as a contigu... | WAGR syndrome |
Is WAGR syndrome inherited ? | Most cases of WAGR syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Some affected individuals inherit a c... | WAGR syndrome |
What are the treatments for WAGR syndrome ? | These resources address the diagnosis or management of WAGR syndrome: - Gene Review: Gene Review: Aniridia - Gene Review: Gene Review: Wilms Tumor Overview - Genetic Testing Registry: 11p partial monosomy syndrome - Genetic Testing Registry: Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and ob... | WAGR syndrome |
What is (are) factor V Leiden thrombophilia ? | Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. People with factor V Leiden thrombophilia have a higher than average... | factor V Leiden thrombophilia |
How many people are affected by factor V Leiden thrombophilia ? | Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation. The mutation is less common in other populations. | factor V Leiden thrombophilia |
What are the genetic changes related to factor V Leiden thrombophilia ? | A particular mutation in the F5 gene causes factor V Leiden thrombophilia. The F5 gene provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. The coagulat... | factor V Leiden thrombophilia |
Is factor V Leiden thrombophilia inherited ? | The chance of developing an abnormal blood clot depends on whether a person has one or two copies of the factor V Leiden mutation in each cell. People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that ... | factor V Leiden thrombophilia |
What are the treatments for factor V Leiden thrombophilia ? | These resources address the diagnosis or management of factor V Leiden thrombophilia: - American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing - Gene Review: Gene Review: Factor V Leiden Thrombophilia - GeneFacts: Factor V Leiden-Associated Thrombosis: Diagnosis - GeneFacts: Fa... | factor V Leiden thrombophilia |
What is (are) Hirschsprung disease ? | Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two mon... | Hirschsprung disease |
How many people are affected by Hirschsprung disease ? | Hirschsprung disease occurs in approximately 1 in 5,000 newborns. | Hirschsprung disease |
What are the genetic changes related to Hirschsprung disease ? | Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be requir... | Hirschsprung disease |
Is Hirschsprung disease inherited ? | Approximately 20 percent of cases of Hirschsprung disease occur in multiple members of the same family. The remainder of cases occur in people with no history of the disorder in their families. Hirschsprung disease appears to have a dominant pattern of inheritance, which means one copy of the altered gene in each cell... | Hirschsprung disease |
What are the treatments for Hirschsprung disease ? | These resources address the diagnosis or management of Hirschsprung disease: - Cedars-Sinai: Treating Hirschsprung's Disease (Colonic Aganglionosis) - Gene Review: Gene Review: Hirschsprung Disease Overview - Genetic Testing Registry: Hirschsprung disease 1 - Genetic Testing Registry: Hirschsprung disease 2 - Gene... | Hirschsprung disease |
What is (are) Waardenburg syndrome ? | Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birt... | Waardenburg syndrome |
How many people are affected by Waardenburg syndrome ? | Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare. | Waardenburg syndrome |
What are the genetic changes related to Waardenburg syndrome ? | Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes. Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye ... | Waardenburg syndrome |
Is Waardenburg syndrome inherited ? | Waardenburg syndrome is usually 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 has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur... | Waardenburg syndrome |
What are the treatments for Waardenburg syndrome ? | These resources address the diagnosis or management of Waardenburg syndrome: - Gene Review: Gene Review: Waardenburg Syndrome Type I - Genetic Testing Registry: Klein-Waardenberg's syndrome - Genetic Testing Registry: Waardenburg syndrome type 1 - Genetic Testing Registry: Waardenburg syndrome type 2A - Genetic Te... | Waardenburg syndrome |
What is (are) primary ciliary dyskinesia ? | Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that... | primary ciliary dyskinesia |
How many people are affected by primary ciliary dyskinesia ? | Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals. | primary ciliary dyskinesia |
What are the genetic changes related to primary ciliary dyskinesia ? | Primary ciliary dyskinesia can result from mutations in many different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs an... | primary ciliary dyskinesia |
Is primary ciliary dyskinesia 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. | primary ciliary dyskinesia |
What are the treatments for primary ciliary dyskinesia ? | These resources address the diagnosis or management of primary ciliary dyskinesia: - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Ciliary dyskinesia, primary, 17 - Genetic Testing Registry: Kartagener syndrome - Genetic Testing Registry: Primary ciliary dyskinesia These resourc... | primary ciliary dyskinesia |
What is (are) MyD88 deficiency ? | MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of... | MyD88 deficiency |
How many people are affected by MyD88 deficiency ? | The prevalence of MyD88 deficiency is unknown. At least 24 affected individuals have been described in the medical literature. | MyD88 deficiency |
What are the genetic changes related to MyD88 deficiency ? | MyD88 deficiency is caused by mutations in the MYD88 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to bacterial infection. The MyD88 protein is part of a signaling pathway that is involved in early recognition of pathogens and the initiat... | MyD88 deficiency |
Is MyD88 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. | MyD88 deficiency |
What are the treatments for MyD88 deficiency ? | These resources address the diagnosis or management of MyD88 deficiency: - Genetic Testing Registry: Myd88 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counse... | MyD88 deficiency |
What is (are) Marinesco-Sjgren syndrome ? | Marinesco-Sjgren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjgren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and di... | Marinesco-Sjgren syndrome |
How many people are affected by Marinesco-Sjgren syndrome ? | Marinesco-Sjgren syndrome appears to be a rare condition. More than 100 cases have been reported worldwide. | Marinesco-Sjgren syndrome |
What are the genetic changes related to Marinesco-Sjgren syndrome ? | Mutations in the SIL1 gene cause Marinesco-Sjgren syndrome. The SIL1 gene provides instructions for producing a protein located in a cell structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape.... | Marinesco-Sjgren syndrome |
Is Marinesco-Sjgren 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. | Marinesco-Sjgren syndrome |
What are the treatments for Marinesco-Sjgren syndrome ? | These resources address the diagnosis or management of Marinesco-Sjgren syndrome: - Gene Review: Gene Review: Marinesco-Sjogren Syndrome - Genetic Testing Registry: Marinesco-Sjgren syndrome - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Hypogonadism - MedlinePlus Encyclopedia: Muscle ... | Marinesco-Sjgren syndrome |
What is (are) renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. Instead, the ... | renal tubular acidosis with deafness |
How many people are affected by renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is a rare disorder; its prevalence is unknown. | renal tubular acidosis with deafness |
What are the genetic changes related to renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. These genes provide instructions for making proteins that are parts (subunits) of a large protein complex known as vacuolar H+-ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively ... | renal tubular acidosis with deafness |
Is renal tubular acidosis with deafness 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. | renal tubular acidosis with deafness |
What are the treatments for renal tubular acidosis with deafness ? | These resources address the diagnosis or management of renal tubular acidosis with deafness: - Genetic Testing Registry: Renal tubular acidosis with progressive nerve deafness - MedlinePlus Encyclopedia: Audiometry - MedlinePlus Encyclopedia: Kidney Function Tests These resources from MedlinePlus offer information... | renal tubular acidosis with deafness |
What is (are) 5q minus syndrome ? | 5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is part... | 5q minus syndrome |
How many people are affected by 5q minus syndrome ? | MDS affects nearly 1 in 20,000 people in the United States. It is thought that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of MDS, which occur more frequently in men than women, 5q- syndrome is more than twice as common in women. | 5q minus syndrome |
What are the genetic changes related to 5q minus syndrome ? | 5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. This deletion occurs in immature bl... | 5q minus syndrome |
Is 5q minus syndrome 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. Affected people typically have no history of the disorder in their family. | 5q minus syndrome |
What are the treatments for 5q minus syndrome ? | These resources address the diagnosis or management of 5q minus syndrome: - American Cancer Society: How are Myelodysplastic Syndromes Diagnosed? - Cancer.Net: MyelodysplasticSyndromes: Treatment Options - Genetic Testing Registry: 5q- syndrome - National Cancer Institute: FDA Approval for Lenalidomide These reso... | 5q minus syndrome |
What is (are) complement factor I deficiency ? | Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which m... | complement factor I deficiency |
How many people are affected by complement factor I deficiency ? | Complement factor I deficiency is a rare disorder; its exact prevalence is unknown. At least 38 cases have been reported in the medical literature. | complement factor I deficiency |
What are the genetic changes related to complement factor I deficiency ? | Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to dest... | complement factor I deficiency |
Is complement factor I 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. | complement factor I deficiency |
What are the treatments for complement factor I deficiency ? | These resources address the diagnosis or management of complement factor I deficiency: - MedlinePlus Encyclopedia: Complement These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti... | complement factor I deficiency |
What is (are) metachromatic leukodystrophy ? | Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white ... | metachromatic leukodystrophy |
How many people are affected by metachromatic leukodystrophy ? | Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. The condition is more common in certain genetically isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the Navajo Nation... | metachromatic leukodystrophy |
What are the genetic changes related to metachromatic leukodystrophy ? | Most individuals with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, arylsulfatase A helps break down sulfatides. A ... | metachromatic leukodystrophy |
Is metachromatic leukodystrophy 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. | metachromatic leukodystrophy |
What are the treatments for metachromatic leukodystrophy ? | These resources address the diagnosis or management of metachromatic leukodystrophy: - Gene Review: Gene Review: Arylsulfatase A Deficiency - Genetic Testing Registry: Metachromatic leukodystrophy - Genetic Testing Registry: Sphingolipid activator protein 1 deficiency These resources from MedlinePlus offer informa... | metachromatic leukodystrophy |
What is (are) episodic ataxia ? | Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches... | episodic ataxia |
How many people are affected by episodic ataxia ? | Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only types 1 and 2 have been identified in more than one family, and type 2 is by far the most common form of the condition. | episodic ataxia |
What are the genetic changes related to episodic ataxia ? | Episodic ataxia can be caused by mutations in several genes that play important roles in the nervous system. Three of these genes, KCNA1, CACNA1A, and CACNB4, provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical... | episodic ataxia |
Is episodic ataxia 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. 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 histor... | episodic ataxia |
What are the treatments for episodic ataxia ? | These resources address the diagnosis or management of episodic ataxia: - Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) - Gene Review: Gene Review: Episodic Ataxia Type 1 - Gene Review: Gene Review: Episodic Ataxia Type 2 - Genetic Testing Registry: Episodic ataxia type 1 - Genetic... | episodic ataxia |
What is (are) REN-related kidney disease ? | REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney fai... | REN-related kidney disease |
How many people are affected by REN-related kidney disease ? | REN-related kidney disease is a rare condition. At least three families with this condition have been identified. | REN-related kidney disease |
What are the genetic changes related to REN-related kidney disease ? | Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body. Mutations in the REN gene that cause REN-related kidney disease result ... | REN-related kidney disease |
Is REN-related kidney disease 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. | REN-related kidney disease |
What are the treatments for REN-related kidney disease ? | These resources address the diagnosis or management of REN-related kidney disease: - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related (ADTKD-REN) - Genetic Testing Registry: Hyperuricemic nephropathy, familial juvenile, 2 - MedlinePlus Encyclopedia: Hyperkalemia - MedlineP... | REN-related kidney disease |
What is (are) Sotos syndrome ? | Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In... | Sotos syndrome |
How many people are affected by Sotos syndrome ? | Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000. | Sotos syndrome |
What are the genetic changes related to Sotos syndrome ? | Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified. The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. Histone methyltransferases are enzymes t... | Sotos syndrome |
Is Sotos syndrome inherited ? | About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Most of these cases result from new mutations involving the NSD1 gene. A few families have been described with more than one affected family member. These cases helped researchers determine that Sotos syndrome has... | Sotos syndrome |
What are the treatments for Sotos syndrome ? | These resources address the diagnosis or management of Sotos syndrome: - Gene Review: Gene Review: Sotos Syndrome - Genetic Testing Registry: Sotos' syndrome - MedlinePlus Encyclopedia: Increased Head Circumference These resources from MedlinePlus offer information about the diagnosis and management of various hea... | Sotos syndrome |
What is (are) Friedreich ataxia ? | Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffne... | Friedreich ataxia |
How many people are affected by Friedreich ataxia ? | Friedreich ataxia is estimated to affect 1 in 40,000 people. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups. | Friedreich ataxia |
What are the genetic changes related to Friedreich ataxia ? | Mutations in the FXN gene cause Friedreich ataxia. This gene provides instructions for making a protein called frataxin. Although its role is not fully understood, frataxin appears to be important for the normal function of mitochondria, the energy-producing centers within cells. One region of the FXN gene contains a s... | Friedreich ataxia |
Is Friedreich ataxia 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. | Friedreich ataxia |
What are the treatments for Friedreich ataxia ? | These resources address the diagnosis or management of Friedreich ataxia: - Friedreich's Ataxia Research Alliance: Clinical Care Guidelines - Gene Review: Gene Review: Friedreich Ataxia - Genetic Testing Registry: Friedreich ataxia 1 - MedlinePlus Encyclopedia: Friedreich's Ataxia - MedlinePlus Encyclopedia: Hyper... | Friedreich ataxia |
What is (are) chronic atrial and intestinal dysrhythmia ? | Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food thro... | chronic atrial and intestinal dysrhythmia |
How many people are affected by chronic atrial and intestinal dysrhythmia ? | The prevalence of CAID is unknown. At least 17 affected individuals have been described in the medical literature. | chronic atrial and intestinal dysrhythmia |
What are the genetic changes related to chronic atrial and intestinal dysrhythmia ? | CAID is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex called cohesin. This protein complex helps control the placement of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is ar... | chronic atrial and intestinal dysrhythmia |
Is chronic atrial and intestinal dysrhythmia 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. | chronic atrial and intestinal dysrhythmia |
What are the treatments for chronic atrial and intestinal dysrhythmia ? | These resources address the diagnosis or management of chronic atrial and intestinal dysrhythmia: - Children's Hospital of Pittsburgh: Chronic Intestinal Pseudo-obstruction - Genetic Testing Registry: Chronic atrial and intestinal dysrhythmia - MedlinePlus Encyclopedia: Heart Pacemakers - MedlinePlus Health Topic: ... | chronic atrial and intestinal dysrhythmia |
What is (are) mucopolysaccharidosis type VI ? | Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals. People ... | mucopolysaccharidosis type VI |
How many people are affected by mucopolysaccharidosis type VI ? | The exact incidence of MPS VI is unknown, although it is estimated to occur in 1 in 250,000 to 600,000 newborns. | mucopolysaccharidosis type VI |
What are the genetic changes related to mucopolysaccharidosis type VI ? | Mutations in the ARSB gene cause MPS VI. The ARSB gene provides instructions for producing an enzyme called arylsulfatase B, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutatio... | mucopolysaccharidosis type VI |
Is mucopolysaccharidosis type VI 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. | mucopolysaccharidosis type VI |
What are the treatments for mucopolysaccharidosis type VI ? | These resources address the diagnosis or management of mucopolysaccharidosis type VI: - Emory University Lysosomal Storage Disease Center - Genetic Testing Registry: Mucopolysaccharidosis type VI - MedlinePlus Encyclopedia: Mucopolysaccharides - National Institute of Neurological Disorders and Stroke: Mucopolysacch... | mucopolysaccharidosis type VI |
What is (are) familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas o... | familial osteochondritis dissecans |
How many people are affected by familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a rare condition, although the prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is estimated to occur in the knee in 15 to 29 per 100,000 individuals. | familial osteochondritis dissecans |
What are the genetic changes related to familial osteochondritis dissecans ? | Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. In addition, aggr... | familial osteochondritis dissecans |
Is familial osteochondritis dissecans 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. In most cases, an affected person has one parent with the condition. | familial osteochondritis dissecans |
What are the treatments for familial osteochondritis dissecans ? | These resources address the diagnosis or management of familial osteochondritis dissecans: - Cedars-Sinai - Genetic Testing Registry: Osteochondritis dissecans - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and managemen... | familial osteochondritis dissecans |
What is (are) age-related macular degeneration ? | Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. Age-related macular degeneration mainly affects central vision, which is needed ... | age-related macular degeneration |
How many people are affected by age-related macular degeneration ? | Age-related macular degeneration has an estimated prevalence of 1 in 2,000 people in the United States and other developed countries. The condition currently affects several million Americans, and the prevalence is expected to increase over the coming decades as the proportion of older people in the population increase... | age-related macular degeneration |
What are the genetic changes related to age-related macular degeneration ? | Age-related macular degeneration results from a combination of genetic and environmental factors. Many of these factors have been identified, but some remain unknown. Researchers have considered changes in many genes as possible risk factors for age-related macular degeneration. The best-studied of these genes are inv... | age-related macular degeneration |
Is age-related macular degeneration inherited ? | Age-related macular degeneration usually does not have a clear-cut pattern of inheritance, although the condition appears to run in families in some cases. An estimated 15 to 20 percent of people with age-related macular degeneration have at least one first-degree relative (such as a sibling) with the condition. | age-related macular degeneration |
What are the treatments for age-related macular degeneration ? | These resources address the diagnosis or management of age-related macular degeneration: - BrightFocus Foundation: Macular Degeneration Treatment - Genetic Testing Registry: Age-related macular degeneration - Genetic Testing Registry: Age-related macular degeneration 1 - Genetic Testing Registry: Age-related macula... | age-related macular degeneration |
What is (are) SLC4A1-associated distal renal tubular acidosis ? | SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid ... | SLC4A1-associated distal renal tubular acidosis |
How many people are affected by SLC4A1-associated distal renal tubular acidosis ? | The prevalence of SLC4A1-associated distal renal tubular acidosis is unknown. The condition is most common in Southeast Asia, especially Thailand. | SLC4A1-associated distal renal tubular acidosis |
What are the genetic changes related to SLC4A1-associated distal renal tubular acidosis ? | Both the autosomal dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis are caused by mutations in the SLC4A1 gene. This gene provides instructions for making the anion exchanger 1 (AE1) protein, which transports negatively charged atoms (anions) across cell membranes. Specifically,... | SLC4A1-associated distal renal tubular acidosis |
Is SLC4A1-associated distal renal tubular acidosis inherited ? | SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affecte... | SLC4A1-associated distal renal tubular acidosis |
What are the treatments for SLC4A1-associated distal renal tubular acidosis ? | These resources address the diagnosis or management of SLC4A1-associated distal renal tubular acidosis: - Genetic Testing Registry: Renal tubular acidosis, distal, autosomal dominant - Genetic Testing Registry: Renal tubular acidosis, distal, with hemolytic anemia These resources from MedlinePlus offer information ... | SLC4A1-associated distal renal tubular acidosis |
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