qtype stringclasses 16
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genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) sensorineural deafness and male infertility ? | Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does no... |
frequency | How many people are affected by sensorineural deafness and male infertility ? | The prevalence of sensorineural deafness and male infertility is unknown. |
genetic changes | What are the genetic changes related to sensorineural deafness and male infertility ? | Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Resear... |
inheritance | Is sensorineural deafness and male infertility inherited ? | Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with sensorineural deafness and male infertility each carry one copy of the chromosome 15 deletion, but they do not show symptom... |
treatment | What are the treatments for sensorineural deafness and male infertility ? | These resources address the diagnosis or management of sensorineural deafness and male infertility: - Cleveland Clinic: Male Infertility - Gene Review: Gene Review: CATSPER-Related Male Infertility - Genetic Testing Registry: Deafness, sensorineural, and male infertility - MedlinePlus Health Topic: Assisted Reprodu... |
information | What is (are) Unverricht-Lundborg disease ? | Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience episodes of involunta... |
frequency | How many people are affected by Unverricht-Lundborg disease ? | Progressive myoclonus epilepsy is a rare condition. Unverricht-Lundborg disease is believed to be the most common cause of this type of epilepsy, but its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most frequently in Finland, where approximately 4 in 100,000 people are affected. |
genetic changes | What are the genetic changes related to Unverricht-Lundborg disease ? | Mutations in the CSTB gene cause Unverricht-Lundborg disease. The CSTB gene provides instructions for making a protein called cystatin B. This protein reduces the activity of enzymes called cathepsins. Cathepsins help break down certain proteins in the lysosomes (compartments in the cell that digest and recycle materia... |
inheritance | Is Unverricht-Lundborg 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. |
treatment | What are the treatments for Unverricht-Lundborg disease ? | These resources address the diagnosis or management of Unverricht-Lundborg disease: - Gene Review: Gene Review: Unverricht-Lundborg Disease - Genetic Testing Registry: Unverricht-Lundborg syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ... |
information | What is (are) Bietti crystalline dystrophy ? | Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss. People with Bietti crystalline... |
frequency | How many people are affected by Bietti crystalline dystrophy ? | Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 people. It is more common in people of East Asian descent, especially those of Chinese and Japanese background. Researchers suggest that Bietti crystalline dystrophy may be underdiagnosed because its symptoms are similar to those of other eye disor... |
genetic changes | What are the genetic changes related to Bietti crystalline dystrophy ? | Bietti crystalline dystrophy is caused by mutations in the CYP4V2 gene. This gene provides instructions for making a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules and chemicals within cells. The CYP4V2 enzyme is involved in a multi-step p... |
inheritance | Is Bietti crystalline dystrophy 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. |
treatment | What are the treatments for Bietti crystalline dystrophy ? | These resources address the diagnosis or management of Bietti crystalline dystrophy: - Gene Review: Gene Review: Bietti Crystalline Dystrophy - Genetic Testing Registry: Bietti crystalline corneoretinal dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health... |
information | What is (are) Pallister-Killian mosaic syndrome ? | Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), a... |
frequency | How many people are affected by Pallister-Killian mosaic syndrome ? | Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may be underdiagnosed because it can be difficult to detect in people with mild signs and symptoms. As a result, most diagnoses are made in children with more severe features of the disorder. More t... |
genetic changes | What are the genetic changes related to Pallister-Killian mosaic syndrome ? | Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Is... |
inheritance | Is Pallister-Killian mosaic syndrome inherited ? | Pallister-Killian mosaic syndrome is not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Affected individuals have no history of the disorder in their ... |
treatment | What are the treatments for Pallister-Killian mosaic syndrome ? | These resources address the diagnosis or management of Pallister-Killian mosaic syndrome: - Genetic Testing Registry: Pallister-Killian syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Mosaicism These resources from MedlinePlus offer information about the diagnosis and management of vari... |
information | What is (are) central core disease ? | Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. This weakness affect... |
frequency | How many people are affected by central core disease ? | Central core disease is probably an uncommon condition, although its incidence is unknown. |
genetic changes | What are the genetic changes related to central core disease ? | Mutations in the RYR1 gene cause central core disease. The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions a... |
inheritance | Is central core disease inherited ? | Central core disease is most often 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 may result from new mutations in the gene. These cases o... |
treatment | What are the treatments for central core disease ? | These resources address the diagnosis or management of central core disease: - Gene Review: Gene Review: Central Core Disease - Genetic Testing Registry: Central core disease - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Malignant Hyperthermia These resources from MedlinePlus offer information... |
information | What is (are) Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? | Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally desc... |
frequency | How many people are affected by Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? | NFJS/DPR is a rare condition; its prevalence is unknown. Only a few affected families have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? | NFJS/DPR results from mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14. Keratins are tough, fibrous proteins that provide strength and resiliency to the outer layer of the skin (the epidermis). Researchers believe that keratin 14 may also play a role in the formation o... |
inheritance | Is Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis 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. |
treatment | What are the treatments for Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ? | These resources address the diagnosis or management of NFJS/DPR: - Foundation for Ichthyosis and Related Skin Types (FIRST): Palmoplantar Keratodermas - Genetic Testing Registry: Dermatopathia pigmentosa reticularis - Genetic Testing Registry: Naegeli-Franceschetti-Jadassohn syndrome - MedlinePlus Encyclopedia: Ect... |
information | What is (are) Fanconi anemia ? | Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen... |
frequency | How many people are affected by Fanconi anemia ? | Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and black South Africans. |
genetic changes | What are the genetic changes related to Fanconi anemia ? | Mutations in at least 15 genes can cause Fanconi anemia. Proteins produced from these genes are involved in a cell process known as the FA pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway sends certain pro... |
inheritance | Is Fanconi anemia inherited ? | Fanconi anemia is most often 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. Very... |
treatment | What are the treatments for Fanconi anemia ? | These resources address the diagnosis or management of Fanconi anemia: - Cincinnati Children's Hospital: Fanconi Anemia Comprehensive Care Center - Fanconi Anemia Research Fund: Fanconi Anemia Guidelines for Diagnosis and Management - Gene Review: Gene Review: Fanconi Anemia - Genetic Testing Registry: Fanconi anem... |
information | What is (are) 18q deletion syndrome ? | 18q deletion syndrome is a chromosomal condition that results when a piece of chromosome 18 is missing. The condition can lead to a wide variety of signs and symptoms among affected individuals. Most people with 18q deletion syndrome have intellectual disability and delayed development that can range from mild to seve... |
frequency | How many people are affected by 18q deletion syndrome ? | 18q deletion syndrome occurs in an estimated 1 in 40,000 newborns. This condition is found in people of all ethnic backgrounds. |
genetic changes | What are the genetic changes related to 18q deletion syndrome ? | 18q deletion syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 18. This chromosomal change is written as 18q-. The size of the deletion and its location on the chromosome vary among affected individuals. The signs and symptoms of 18q deletion syndrome, including the leukodystroph... |
inheritance | Is 18q deletion syndrome inherited ? | Most cases of 18q deletion syndrome are not inherited. The deletion occurs most often 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. In some cases, 18q deletion syndrome is inherited,... |
treatment | What are the treatments for 18q deletion syndrome ? | These resources address the diagnosis or management of 18q deletion syndrome: - Gene Review: Gene Review: Leukodystrophy Overview - University of Texas Chromosome 18 Clinical Research Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... |
information | What is (are) X-linked adrenoleukodystrophy ? | X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioratio... |
frequency | How many people are affected by X-linked adrenoleukodystrophy ? | The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 individuals worldwide. This condition occurs with a similar frequency in all populations. |
genetic changes | What are the genetic changes related to X-linked adrenoleukodystrophy ? | Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. Peroxisomes are small sacs within cells that ... |
inheritance | Is X-linked adrenoleukodystrophy inherited ? | X-linked adrenoleukodystrophy is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the ABCD1 gene in each cell is su... |
treatment | What are the treatments for X-linked adrenoleukodystrophy ? | These resources address the diagnosis or management of X-linked adrenoleukodystrophy: - Gene Review: Gene Review: X-Linked Adrenoleukodystrophy - Genetic Testing Registry: Adrenoleukodystrophy - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Adrenoleukodystrophy - National Marrow Donor Program - X-... |
information | What is (are) familial restrictive cardiomyopathy ? | Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart... |
frequency | How many people are affected by familial restrictive cardiomyopathy ? | The prevalence of familial restrictive cardiomyopathy is unknown. Although cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in which relaxation of the heart muscle is impaired, is the least common type. Some other forms of cardiomyopathy involve a weak or enlarged heart muscle with impaired ... |
genetic changes | What are the genetic changes related to familial restrictive cardiomyopathy ? | Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. Cardiac troponin I is one of three ... |
inheritance | Is familial restrictive cardiomyopathy 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. |
treatment | What are the treatments for familial restrictive cardiomyopathy ? | These resources address the diagnosis or management of familial restrictive cardiomyopathy: - Genetic Testing Registry: Familial restrictive cardiomyopathy - Genetic Testing Registry: Familial restrictive cardiomyopathy 1 - Genetic Testing Registry: Familial restrictive cardiomyopathy 2 - Genetic Testing Registry: ... |
information | What is (are) nail-patella syndrome ? | Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be... |
frequency | How many people are affected by nail-patella syndrome ? | The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals. |
genetic changes | What are the genetic changes related to nail-patella syndrome ? | Mutations in the LMX1B gene cause nail-patella syndrome. The LMX1B gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. The LMX1B protein appears to be... |
inheritance | Is nail-patella syndrome inherited ? | Nail-patella syndrome 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 may result from new mutations in the LMX1B gene. These cases occur... |
treatment | What are the treatments for nail-patella syndrome ? | These resources address the diagnosis or management of nail-patella syndrome: - Gene Review: Gene Review: Nail-Patella Syndrome - Genetic Testing Registry: Nail-patella syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... |
information | What is (are) Fraser syndrome ? | Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitali... |
frequency | How many people are affected by Fraser syndrome ? | Fraser syndrome affects an estimated 1 in 200,000 newborns. The condition occurs in approximately 1 in 10,000 fetuses that do not survive to birth. |
genetic changes | What are the genetic changes related to Fraser syndrome ? | Mutations in the FRAS1, FREM2, or GRIP1 gene can cause Fraser syndrome. FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome. FREM2 and GRIP1 gene mutations are each found in a small percentage of cases. The FRAS1 and FREM2 proteins (produced from the FRAS1 and FREM2 ge... |
inheritance | Is Fraser 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. |
treatment | What are the treatments for Fraser syndrome ? | These resources address the diagnosis or management of Fraser syndrome: - Genetic Testing Registry: Cryptophthalmos syndrome - University of Arizona College of Medicine: Cryptophthalmos These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic ... |
information | What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ? | Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MR... |
frequency | How many people are affected by Mayer-Rokitansky-Kster-Hauser syndrome ? | MRKH syndrome affects approximately 1 in 4,500 newborn girls. |
genetic changes | What are the genetic changes related to Mayer-Rokitansky-Kster-Hauser syndrome ? | The cause of MRKH syndrome is unknown, although it probably results from a combination of genetic and environmental factors. Researchers have not identified any genes associated with MRKH syndrome. The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Mllerian duct. This structure in... |
inheritance | Is Mayer-Rokitansky-Kster-Hauser syndrome inherited ? | Most cases of MRKH syndrome occur in people with no history of the disorder in their family. Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. How... |
treatment | What are the treatments for Mayer-Rokitansky-Kster-Hauser syndrome ? | These resources address the diagnosis or management of Mayer-Rokitansky-Kster-Hauser syndrome: - American Urological Association Foundation: Vaginal Agenesis - Children's Hospital Boston: Center for Young Women's Health - Genetic Testing Registry: Rokitansky Kuster Hauser syndrome These resources from MedlinePlus ... |
information | What is (are) Axenfeld-Rieger syndrome ? | Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris... |
frequency | How many people are affected by Axenfeld-Rieger syndrome ? | Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 people. |
genetic changes | What are the genetic changes related to Axenfeld-Rieger syndrome ? | Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. The proteins produced from the PITX2 and FOXC1 genes... |
inheritance | Is Axenfeld-Rieger 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. |
treatment | What are the treatments for Axenfeld-Rieger syndrome ? | These resources address the diagnosis or management of Axenfeld-Rieger syndrome: - Genetic Testing Registry: Axenfeld-Rieger syndrome type 1 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 2 - Genetic Testing Registry: Axenfeld-Rieger syndrome type 3 - Genetic Testing Registry: Rieger syndrome - Glaucoma... |
information | What is (are) spondylocarpotarsal synostosis syndrome ? | Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the trunk results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined tog... |
frequency | How many people are affected by spondylocarpotarsal synostosis syndrome ? | Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence is unknown. At least 25 affected individuals have been identified. |
genetic changes | What are the genetic changes related to spondylocarpotarsal synostosis syndrome ? | Mutations in the FLNB gene cause spondylocarpotarsal synostosis syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds)... |
inheritance | Is spondylocarpotarsal synostosis syndrome inherited ? | Spondylocarpotarsal synostosis syndrome caused by FLNB gene mutations 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 sho... |
treatment | What are the treatments for spondylocarpotarsal synostosis syndrome ? | These resources address the diagnosis or management of spondylocarpotarsal synostosis syndrome: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Spondylocarpotarsal synostosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various heal... |
information | What is (are) nonsyndromic paraganglioma ? | Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in... |
frequency | How many people are affected by nonsyndromic paraganglioma ? | It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 people, and the prevalence of other paragangliomas is 1 in 1 million people. These statistics include syndromic and nonsyndromic paraganglioma and pheochromocytoma. |
genetic changes | What are the genetic changes related to nonsyndromic paraganglioma ? | The VHL, RET, SDHB, and SDHD genes can be mutated in both syndromic and nonsyndromic forms of paraganglioma and pheochromocytoma. Mutations in at least three additional genes, TMEM127, SDHA, and KIF1B, have been identified in people with the nonsyndromic form of these conditions. Gene mutations increase the risk of dev... |
inheritance | Is nonsyndromic paraganglioma inherited ? | Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing a paraganglioma or pheochromocytoma. People with mutations in the gene inherit an increased risk of this condition, not the condition itsel... |
treatment | What are the treatments for nonsyndromic paraganglioma ? | These resources address the diagnosis or management of nonsyndromic paraganglioma: - Genetic Testing Registry: Pheochromocytoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene... |
information | What is (are) hypomagnesemia with secondary hypocalcemia ? | Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia). Hypomagnesemia impairs the function of the parathyroid glands, which are sm... |
frequency | How many people are affected by hypomagnesemia with secondary hypocalcemia ? | Hypomagnesemia with secondary hypocalcemia is thought to be a rare condition, but its prevalence is unknown. |
genetic changes | What are the genetic changes related to hypomagnesemia with secondary hypocalcemia ? | Hypomagnesemia with secondary hypocalcemia is caused by mutations in the TRPM6 gene. This gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to pass into cells. ... |
inheritance | Is hypomagnesemia with secondary hypocalcemia 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. |
treatment | What are the treatments for hypomagnesemia with secondary hypocalcemia ? | These resources address the diagnosis or management of hypomagnesemia with secondary hypocalcemia: - Genetic Testing Registry: Hypomagnesemia 1, intestinal - MedlinePlus Encyclopedia: Hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... |
information | What is (are) tetrasomy 18p ? | Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. Howeve... |
frequency | How many people are affected by tetrasomy 18p ? | Tetrasomy 18p is a rare disorder. It is known to affect about 250 families worldwide. |
genetic changes | What are the genetic changes related to tetrasomy 18p ? | Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 18p is a ve... |
inheritance | Is tetrasomy 18p inherited ? | Tetrasomy 18p is usually not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Most affected individuals have no history of the disorder in their family.... |
treatment | What are the treatments for tetrasomy 18p ? | These resources address the diagnosis or management of tetrasomy 18p: - Chromosome 18 Clinical Research Center, University of Texas Health Science Center at San Antonio - Genetic Testing Registry: Chromosome 18, tetrasomy 18p These resources from MedlinePlus offer information about the diagnosis and management of v... |
information | What is (are) spinocerebellar ataxia type 3 ? | Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle sti... |
frequency | How many people are affected by spinocerebellar ataxia type 3 ? | The prevalence of SCA3 is unknown. This condition is thought to be the most common type of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. |
genetic changes | What are the genetic changes related to spinocerebellar ataxia type 3 ? | Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin is a... |
inheritance | Is spinocerebellar ataxia type 3 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. As the altered ATXN3 gene is passed down from one generation to the next, the length of the CAG t... |
treatment | What are the treatments for spinocerebellar ataxia type 3 ? | These resources address the diagnosis or management of SCA3: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 3 - Genetic Testing Registry: Azorean disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... |
information | What is (are) inherited thyroxine-binding globulin deficiency ? | Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in reg... |
frequency | How many people are affected by inherited thyroxine-binding globulin deficiency ? | The complete form of inherited thyroxine-binding globulin deficiency, TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, affects about 1 in 4,000 newborns. These conditions appear to be more common in the Australian Aborigine population and in the Bedouin population of southern Israel. |
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