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What is (are) Majeed syndrome ? | Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin. One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of pain and joint ... | Majeed syndrome |
How many people are affected by Majeed syndrome ? | Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East. | Majeed syndrome |
What are the genetic changes related to Majeed syndrome ? | Majeed syndrome results from mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin-2 also may be inv... | Majeed syndrome |
Is Majeed 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. Although carriers typically do not show signs and symptoms of the condition, some pa... | Majeed syndrome |
What are the treatments for Majeed syndrome ? | These resources address the diagnosis or management of Majeed syndrome: - Gene Review: Gene Review: Majeed Syndrome - Genetic Testing Registry: Majeed syndrome - MedlinePlus Encyclopedia: Osteomyelitis - MedlinePlus Encyclopedia: Psoriasis These resources from MedlinePlus offer information about the diagnosis and... | Majeed syndrome |
What is (are) renal coloboma syndrome ? | Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when th... | renal coloboma syndrome |
How many people are affected by renal coloboma syndrome ? | The prevalence of renal coloboma syndrome is unknown; at least 60 cases have been reported in the scientific literature. | renal coloboma syndrome |
What are the genetic changes related to renal coloboma syndrome ? | Renal coloboma syndrome is caused by mutations in the PAX2 gene. The PAX2 gene provides instructions for making a protein that is involved in the early development of the eyes, ears, brain and spinal cord (central nervous system), kidneys, and genital tract. The PAX2 protein attaches (binds) to specific regions of DNA ... | renal coloboma syndrome |
Is renal coloboma 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. | renal coloboma syndrome |
What are the treatments for renal coloboma syndrome ? | These resources address the diagnosis or management of renal coloboma syndrome: - Gene Review: Gene Review: Renal Coloboma Syndrome - Genetic Testing Registry: Renal coloboma syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te... | renal coloboma syndrome |
What is (are) 22q11.2 duplication ? | 22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, in... | 22q11.2 duplication |
How many people are affected by 22q11.2 duplication ? | The prevalence of the 22q11.2 duplication in the general population is difficult to determine. Because many individuals with this duplication have no associated symptoms, their duplication may never be detected. Most people tested for the 22q11.2 duplication have come to medical attention as a result of developmental ... | 22q11.2 duplication |
What are the genetic changes related to 22q11.2 duplication ? | People with 22q11.2 duplication have an extra copy of some genetic material at position q11.2 on chromosome 22. In most cases, this extra genetic material consists of a sequence of about 3 million DNA building blocks (base pairs), also written as 3 megabases (Mb). The 3 Mb duplicated region contains 30 to 40 genes. Fo... | 22q11.2 duplication |
Is 22q11.2 duplication inherited ? | The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication affects one of the two copies of chromosome 22 in each cell. About 70 percent of affected individuals inherit the duplication from a parent. In other cases, the duplication is not inherited and instead occurs as a random eve... | 22q11.2 duplication |
What are the treatments for 22q11.2 duplication ? | These resources address the diagnosis or management of 22q11.2 duplication: - Gene Review: Gene Review: 22q11.2 Duplication - Genetic Testing Registry: 22q11.2 duplication syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... | 22q11.2 duplication |
What is (are) short QT syndrome ? | Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term "short QT" refers to a specific pattern of heart activity that is detected with an electrocardi... | short QT syndrome |
How many people are affected by short QT syndrome ? | Short QT syndrome appears to be rare. At least 70 cases have been identified worldwide since the condition was discovered in 2000. However, the condition may be underdiagnosed because some affected individuals never experience symptoms. | short QT syndrome |
What are the genetic changes related to short QT syndrome ? | Mutations in the KCNH2, KCNJ2, and KCNQ1 genes can cause short QT syndrome. These genes provide instructions for making channels that transport positively charged atoms (ions) of potassium out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in the ... | short QT syndrome |
Is short QT syndrome inherited ? | Short QT syndrome appears to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals have a family history of short QT syndrome or related heart problems and sudden cardiac death. Other cases of short QT synd... | short QT syndrome |
What are the treatments for short QT syndrome ? | These resources address the diagnosis or management of short QT syndrome: - Genetic Testing Registry: Short QT syndrome 1 - Genetic Testing Registry: Short QT syndrome 2 - Genetic Testing Registry: Short QT syndrome 3 - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about... | short QT syndrome |
What is (are) congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("H... | congenital hemidysplasia with ichthyosiform erythroderma and limb defects |
How many people are affected by congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? | CHILD syndrome is a rare disorder; it has been reported in about 60 people worldwide. This condition occurs almost exclusively in females. | congenital hemidysplasia with ichthyosiform erythroderma and limb defects |
What are the genetic changes related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? | Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Alth... | congenital hemidysplasia with ichthyosiform erythroderma and limb defects |
Is congenital hemidysplasia with ichthyosiform erythroderma and limb defects inherited ? | This condition has an X-linked dominant pattern of inheritance. 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. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. ... | congenital hemidysplasia with ichthyosiform erythroderma and limb defects |
What are the treatments for congenital hemidysplasia with ichthyosiform erythroderma and limb defects ? | These resources address the diagnosis or management of CHILD syndrome: - Gene Review: Gene Review: NSDHL-Related Disorders - Genetic Testing Registry: Child syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... | congenital hemidysplasia with ichthyosiform erythroderma and limb defects |
What is (are) congenital leptin deficiency ? | Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia... | congenital leptin deficiency |
How many people are affected by congenital leptin deficiency ? | Congenital leptin deficiency is a rare disorder. Only a few dozen cases have been reported in the medical literature. | congenital leptin deficiency |
What are the genetic changes related to congenital leptin deficiency ? | Congenital leptin deficiency is caused by mutations in the LEP gene. This gene provides instructions for making a hormone called leptin, which is involved in the regulation of body weight. Normally, the body's fat cells release leptin in proportion to their size. As fat accumulates in cells, more leptin is produced. Th... | congenital leptin deficiency |
Is congenital leptin 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. | congenital leptin deficiency |
What are the treatments for congenital leptin deficiency ? | These resources address the diagnosis or management of congenital leptin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Obesity, severe, due to leptin deficiency - Genetics of Obesity Study - Nation... | congenital leptin deficiency |
What is (are) lysinuric protein intolerance ? | Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typica... | lysinuric protein intolerance |
How many people are affected by lysinuric protein intolerance ? | Lysinuric protein intolerance is estimated to occur in 1 in 60,000 newborns in Finland and 1 in 57,000 newborns in Japan. Outside these populations this condition occurs less frequently, but the exact incidence is unknown. | lysinuric protein intolerance |
What are the genetic changes related to lysinuric protein intolerance ? | Mutations in the SLC7A7 gene cause lysinuric protein intolerance. The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting lysine, arginine, and ornithine between cells in the body. The transportation of amino acids from the small int... | lysinuric protein intolerance |
Is lysinuric protein intolerance 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. | lysinuric protein intolerance |
What are the treatments for lysinuric protein intolerance ? | These resources address the diagnosis or management of lysinuric protein intolerance: - Gene Review: Gene Review: Lysinuric Protein Intolerance - Genetic Testing Registry: Lysinuric protein intolerance - MedlinePlus Encyclopedia: Aminoaciduria - MedlinePlus Encyclopedia: Malabsorption These resources from Medline... | lysinuric protein intolerance |
What is (are) beta-ketothiolase deficiency ? | Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. The signs and symptoms of beta-ketothi... | beta-ketothiolase deficiency |
How many people are affected by beta-ketothiolase deficiency ? | Beta-ketothiolase deficiency appears to be very rare. It is estimated to affect fewer than 1 in 1 million newborns. | beta-ketothiolase deficiency |
What are the genetic changes related to beta-ketothiolase deficiency ? | Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, the ACAT1 enzyme helps proce... | beta-ketothiolase deficiency |
Is beta-ketothiolase 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. | beta-ketothiolase deficiency |
What are the treatments for beta-ketothiolase deficiency ? | These resources address the diagnosis or management of beta-ketothiolase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of acetyl-CoA acetyltransferase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D... | beta-ketothiolase deficiency |
What is (are) hypermanganesemia with dystonia, polycythemia, and cirrhosis ? | Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is an inherited disorder in which excessive amounts of the element manganese accumulate in the body, particularly in the brain, liver, and blood (hypermanganesemia). Signs and symptoms of this condition can appear in childhood (early-onset), typically... | hypermanganesemia with dystonia, polycythemia, and cirrhosis |
How many people are affected by hypermanganesemia with dystonia, polycythemia, and cirrhosis ? | The prevalence of HMDPC is unknown. A small number of cases have been described in the scientific literature. | hypermanganesemia with dystonia, polycythemia, and cirrhosis |
What are the genetic changes related to hypermanganesemia with dystonia, polycythemia, and cirrhosis ? | Mutations in the SLC30A10 gene cause HMDPC. This gene provides instructions for making a protein that transports manganese across cell membranes. Manganese is important for many cellular functions, but large amounts are toxic, particularly to brain and liver cells. The SLC30A10 protein is found in the membranes surroun... | hypermanganesemia with dystonia, polycythemia, and cirrhosis |
Is hypermanganesemia with dystonia, polycythemia, and cirrhosis 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. | hypermanganesemia with dystonia, polycythemia, and cirrhosis |
What are the treatments for hypermanganesemia with dystonia, polycythemia, and cirrhosis ? | These resources address the diagnosis or management of HMDPC: - Gene Review: Gene Review: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease - Genetic Testing Registry: Hypermanganesemia with dystonia, polycythemia and cirrhosis These resources from MedlinePlus offer information about... | hypermanganesemia with dystonia, polycythemia, and cirrhosis |
What is (are) 1q21.1 microdeletion ? | 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neu... | 1q21.1 microdeletion |
How many people are affected by 1q21.1 microdeletion ? | 1q21.1 microdeletion is a rare chromosomal change; only a few dozen individuals with this deletion have been reported in the medical literature. | 1q21.1 microdeletion |
What are the genetic changes related to 1q21.1 microdeletion ? | Most people with a 1q21.1 microdeletion are missing a sequence of about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region of chromosome 1. However, the exact size of the deleted region varies. This deletion affects one of the two copies of chromosome 1 in each cell.... | 1q21.1 microdeletion |
Is 1q21.1 microdeletion inherited ? | 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms. In at least half of cases, individuals ... | 1q21.1 microdeletion |
What are the treatments for 1q21.1 microdeletion ? | These resources address the diagnosis or management of 1q21.1 microdeletion: - Gene Review: Gene Review: 1q21.1 Recurrent Microdeletion - Genetic Testing Registry: 1q21.1 recurrent microdeletion These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di... | 1q21.1 microdeletion |
What is (are) rapid-onset dystonia parkinsonism ? | Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia)... | rapid-onset dystonia parkinsonism |
How many people are affected by rapid-onset dystonia parkinsonism ? | Rapid-onset dystonia parkinsonism appears to be a rare disorder, although its prevalence is unknown. It has been diagnosed in individuals and families from the United States, Europe, and Korea. | rapid-onset dystonia parkinsonism |
What are the genetic changes related to rapid-onset dystonia parkinsonism ? | Rapid-onset dystonia parkinsonism is caused by mutations in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. It transports charged atoms (i... | rapid-onset dystonia parkinsonism |
Is rapid-onset dystonia parkinsonism inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ATP1A3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no h... | rapid-onset dystonia parkinsonism |
What are the treatments for rapid-onset dystonia parkinsonism ? | These resources address the diagnosis or management of rapid-onset dystonia parkinsonism: - Gene Review: Gene Review: Rapid-Onset Dystonia-Parkinsonism - Genetic Testing Registry: Dystonia 12 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... | rapid-onset dystonia parkinsonism |
What is (are) glucose-galactose malabsorption ? | Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. Glucose and galactose are called simple sugars, or monosaccharides. Sucrose (table sugar) and l... | glucose-galactose malabsorption |
How many people are affected by glucose-galactose malabsorption ? | Glucose-galactose malabsorption is a rare disorder; only a few hundred cases have been identified worldwide. However, as many as 10 percent of the population may have a somewhat reduced capacity for glucose absorption without associated health problems. This condition may be a milder variation of glucose-galactose mala... | glucose-galactose malabsorption |
What are the genetic changes related to glucose-galactose malabsorption ? | Mutations in the SLC5A1 gene cause glucose-galactose malabsorption. The SLC5A1 gene provides instructions for producing a sodium/glucose cotransporter protein called SGLT1. This protein is found mainly in the intestinal tract and, to a lesser extent, in the kidneys, where it is involved in transporting glucose and the... | glucose-galactose malabsorption |
Is glucose-galactose malabsorption inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In some cases, indi... | glucose-galactose malabsorption |
What are the treatments for glucose-galactose malabsorption ? | These resources address the diagnosis or management of glucose-galactose malabsorption: - Genetic Testing Registry: Congenital glucose-galactose malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Sur... | glucose-galactose malabsorption |
What is (are) mandibulofacial dysostosis with microcephaly ? | Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (... | mandibulofacial dysostosis with microcephaly |
How many people are affected by mandibulofacial dysostosis with microcephaly ? | MFDM is a rare disorder; its exact prevalence is unknown. More than 60 affected individuals have been described in the medical literature. | mandibulofacial dysostosis with microcephaly |
What are the genetic changes related to mandibulofacial dysostosis with microcephaly ? | MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosom... | mandibulofacial dysostosis with microcephaly |
Is mandibulofacial dysostosis with microcephaly 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. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the m... | mandibulofacial dysostosis with microcephaly |
What are the treatments for mandibulofacial dysostosis with microcephaly ? | These resources address the diagnosis or management of MFDM: - Gene Review: Gene Review: Mandibulofacial Dysostosis with Microcephaly - Genetic Testing Registry: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate These resources from MedlinePlus offer information about the dia... | mandibulofacial dysostosis with microcephaly |
What is (are) craniofacial microsomia ? | Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures ... | craniofacial microsomia |
How many people are affected by craniofacial microsomia ? | Craniofacial microsomia has been estimated to occur in between 1 in 5,600 and 1 in 26,550 newborns. However, this range may be an underestimate because not all medical professionals agree on the criteria for diagnosis of this condition, and because mild cases may never come to medical attention. For reasons that are un... | craniofacial microsomia |
What are the genetic changes related to craniofacial microsomia ? | It is unclear what genes are involved in craniofacial microsomia. This condition results from problems in the development of structures in the embryo called the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six pairs of pharyngeal arches give rise to the muscles, ar... | craniofacial microsomia |
Is craniofacial microsomia inherited ? | Craniofacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their ... | craniofacial microsomia |
What are the treatments for craniofacial microsomia ? | These resources address the diagnosis or management of craniofacial microsomia: - Children's Hospital and Medical Center of the University of Nebraska - Gene Review: Gene Review: Craniofacial Microsomia Overview - Genetic Testing Registry: Goldenhar syndrome - Seattle Children's Hospital - Virginia Commonwealth Un... | craniofacial microsomia |
What is (are) branchio-oculo-facial syndrome ? | Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which ar... | branchio-oculo-facial syndrome |
How many people are affected by branchio-oculo-facial syndrome ? | Branchio-oculo-facial syndrome is a rare condition, although the prevalence is unknown. | branchio-oculo-facial syndrome |
What are the genetic changes related to branchio-oculo-facial syndrome ? | Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the act... | branchio-oculo-facial syndrome |
Is branchio-oculo-facial syndrome inherited ? | Branchio-oculo-facial 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 about half of cases, an affected person inherits the mutation from one affected parent. The remaining cases occur in people whose parents do not ha... | branchio-oculo-facial syndrome |
What are the treatments for branchio-oculo-facial syndrome ? | These resources address the diagnosis or management of branchio-oculo-facial syndrome: - Gene Review: Gene Review: Branchiooculofacial Syndrome - Genetic Testing Registry: Branchiooculofacial syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate These resources from MedlinePlus offer information about the diag... | branchio-oculo-facial syndrome |
What is (are) tumor necrosis factor receptor-associated periodic syndrome ? | Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can o... | tumor necrosis factor receptor-associated periodic syndrome |
How many people are affected by tumor necrosis factor receptor-associated periodic syndrome ? | TRAPS has an estimated prevalence of one per million individuals; it is the second most common inherited recurrent fever syndrome, following a similar condition called familial Mediterranean fever. More than 1,000 people worldwide have been diagnosed with TRAPS. | tumor necrosis factor receptor-associated periodic syndrome |
What are the genetic changes related to tumor necrosis factor receptor-associated periodic syndrome ? | TRAPS is caused by mutations in the TNFRSF1A gene. This gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1). This protein is found within the membrane of cells, where it attaches (binds) to another protein called tumor necrosis factor (TNF). This binding sends signals that ca... | tumor necrosis factor receptor-associated periodic syndrome |
Is tumor necrosis factor receptor-associated periodic 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. However, some people who inherit the altered gene never develop features of TRAPS. (This situation is known as reduced penetrance.) It is unclear why some people with ... | tumor necrosis factor receptor-associated periodic syndrome |
What are the treatments for tumor necrosis factor receptor-associated periodic syndrome ? | These resources address the diagnosis or management of TRAPS: - Genetic Testing Registry: TNF receptor-associated periodic fever syndrome (TRAPS) - University College London: National Amyloidosis Center (UK) These resources from MedlinePlus offer information about the diagnosis and management of various health cond... | tumor necrosis factor receptor-associated periodic syndrome |
What is (are) deafness and myopia syndrome ? | Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be ... | deafness and myopia syndrome |
How many people are affected by deafness and myopia syndrome ? | The prevalence of deafness and myopia syndrome is unknown. Only a few affected families have been described in the medical literature. | deafness and myopia syndrome |
What are the genetic changes related to deafness and myopia syndrome ? | Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit auditory signals. It also controls (regulates) the growth of the... | deafness and myopia syndrome |
Is deafness and myopia 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. | deafness and myopia syndrome |
What are the treatments for deafness and myopia syndrome ? | These resources address the diagnosis or management of deafness and myopia syndrome: - Baby's First Test: Hearing Loss - EyeSmart: Eyeglasses for Vision Correction - Gene Review: Gene Review: Deafness and Myopia Syndrome - Harvard Medical School Center for Hereditary Deafness - KidsHealth: Hearing Evaluation in Ch... | deafness and myopia syndrome |
What is (are) hyperkalemic periodic paralysis ? | Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after w... | hyperkalemic periodic paralysis |
How many people are affected by hyperkalemic periodic paralysis ? | Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people. | hyperkalemic periodic paralysis |
What are the genetic changes related to hyperkalemic periodic paralysis ? | Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. One of the cha... | hyperkalemic periodic paralysis |
Is hyperkalemic periodic paralysis 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. | hyperkalemic periodic paralysis |
What are the treatments for hyperkalemic periodic paralysis ? | These resources address the diagnosis or management of hyperkalemic periodic paralysis: - Gene Review: Gene Review: Hyperkalemic Periodic Paralysis - Genetic Testing Registry: Familial hyperkalemic periodic paralysis - Genetic Testing Registry: Hyperkalemic Periodic Paralysis Type 1 - MedlinePlus Encyclopedia: Hype... | hyperkalemic periodic paralysis |
What is (are) Meesmann corneal dystrophy ? | Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign ... | Meesmann corneal dystrophy |
How many people are affected by Meesmann corneal dystrophy ? | Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. It was first described in a large, multi-generational German family with more than 100 affected members. Since then, the condition has been reported in individuals and families worldwide. | Meesmann corneal dystrophy |
What are the genetic changes related to Meesmann corneal dystrophy ? | Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide instructions for making proteins called keratin 12 and keratin 3, which are found in the corneal epithelium. The two proteins interact to form the structural framework of this layer of the cornea. Mutatio... | Meesmann corneal dystrophy |
Is Meesmann corneal dystrophy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of an altered KRT12 or KRT3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent. | Meesmann corneal dystrophy |
What are the treatments for Meesmann corneal dystrophy ? | These resources address the diagnosis or management of Meesmann corneal dystrophy: - Genetic Testing Registry: Meesman's corneal dystrophy - Merck Manual Home Health Handbook: Tests for Eye Disorders: The Eye Examination These resources from MedlinePlus offer information about the diagnosis and management of variou... | Meesmann corneal dystrophy |
What is (are) achondroplasia ? | Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone ... | achondroplasia |
How many people are affected by achondroplasia ? | Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns. | achondroplasia |
What are the genetic changes related to achondroplasia ? | Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutati... | achondroplasia |
Is achondroplasia inherited ? | Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. In the remaining cases, people with ... | achondroplasia |
What are the treatments for achondroplasia ? | These resources address the diagnosis or management of achondroplasia: - Gene Review: Gene Review: Achondroplasia - GeneFacts: Achondroplasia: Diagnosis - GeneFacts: Achondroplasia: Management - Genetic Testing Registry: Achondroplasia - MedlinePlus Encyclopedia: Achondroplasia - MedlinePlus Encyclopedia: Hydroce... | achondroplasia |
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