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What is (are) congenital central hypoventilation syndrome ? | Congenital central hypoventilation syndrome (CCHS) is a disorder that affects breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Ordinarily, the part of the nervous system that controls invol... | congenital central hypoventilation syndrome |
How many people are affected by congenital central hypoventilation syndrome ? | CCHS is a relatively rare disorder. Approximately 1,000 individuals with this condition have been identified. Researchers believe that some cases of sudden infant death syndrome (SIDS) or sudden unexplained death in children may be caused by undiagnosed CCHS. | congenital central hypoventilation syndrome |
What are the genetic changes related to congenital central hypoventilation syndrome ? | Mutations in the PHOX2B gene cause CCHS. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the n... | congenital central hypoventilation syndrome |
Is congenital central hypoventilation 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. More than 90 percent of cases of CCHS result from new mutations in the PHOX2B gene. These cases occur in people with no history of the disorder in their family. Occas... | congenital central hypoventilation syndrome |
What are the treatments for congenital central hypoventilation syndrome ? | These resources address the diagnosis or management of CCHS: - Gene Review: Gene Review: Congenital Central Hypoventilation Syndrome - Genetic Testing Registry: Congenital central hypoventilation - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from MedlinePlus offer information about the diagnos... | congenital central hypoventilation syndrome |
What is (are) MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failure to ... | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome |
How many people are affected by MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is thought to be a rare condition. Approximately 30 cases have been described in the scientific literature, including seven families with Navajo neurohepatopathy. Within the Navajo Nation of the southwestern United States, Navajo neurohepatopathy is esti... | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome |
What are the genetic changes related to MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? | As the condition name suggests, mutations in the MPV17 gene cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The protein produced from the MPV17 gene is located in the inner membrane of cell structures called mitochondria. Mitochondria are involved in a wide variety of cellular activities, inclu... | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome |
Is MPV17-related hepatocerebral mitochondrial DNA depletion 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. | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome |
What are the treatments for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? | These resources address the diagnosis or management of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome: - Gene Review: Gene Review: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome - Genetic Testing Registry: Navajo neurohepatopathy - The United Mitochondrial Disease Foundation: Tr... | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome |
What is (are) Loeys-Dietz syndrome ? | Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. There are four types of Loeys-Dietz syndrome, labelled types I through IV, which are distinguished by ... | Loeys-Dietz syndrome |
How many people are affected by Loeys-Dietz syndrome ? | The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms. | Loeys-Dietz syndrome |
What are the genetic changes related to Loeys-Dietz syndrome ? | The four types of Loeys-Dietz syndrome are distinguished by their genetic cause: mutations in the TGFBR1 gene cause type I, mutations in the TGFBR2 gene cause type II, mutations in the SMAD3 gene cause type III, and mutations in the TGFB2 gene cause type IV. These four genes play a role in cell signaling that promotes ... | Loeys-Dietz syndrome |
Is Loeys-Dietz syndrome inherited ? | Loeys-Dietz syndrome is considered 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. In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their ... | Loeys-Dietz syndrome |
What are the treatments for Loeys-Dietz syndrome ? | These resources address the diagnosis or management of Loeys-Dietz syndrome: - Gene Review: Gene Review: Loeys-Dietz Syndrome - Genetic Testing Registry: Loeys-Dietz syndrome - Genetic Testing Registry: Loeys-Dietz syndrome 1 - Genetic Testing Registry: Loeys-Dietz syndrome 2 - Genetic Testing Registry: Loeys-Diet... | Loeys-Dietz syndrome |
What is (are) N-acetylglutamate synthase deficiency ? | N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. N-acetylglutamate synth... | N-acetylglutamate synthase deficiency |
How many people are affected by N-acetylglutamate synthase deficiency ? | N-acetylglutamate synthase deficiency is a very rare disorder. Only a few cases have been reported worldwide, and the overall incidence is unknown. | N-acetylglutamate synthase deficiency |
What are the genetic changes related to N-acetylglutamate synthase deficiency ? | Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency. N-acetylglutamate synthase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by... | N-acetylglutamate synthase deficiency |
Is N-acetylglutamate synthase 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. | N-acetylglutamate synthase deficiency |
What are the treatments for N-acetylglutamate synthase deficiency ? | These resources address the diagnosis or management of N-acetylglutamate synthase deficiency: - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperammonemia, type III - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resources from MedlinePlus offer informati... | N-acetylglutamate synthase deficiency |
What is (are) desmosterolosis ? | Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). Later in childhood, some affected individu... | desmosterolosis |
How many people are affected by desmosterolosis ? | The prevalence of desmosterolosis is unknown; at least 10 affected individuals have been described in the scientific literature. | desmosterolosis |
What are the genetic changes related to desmosterolosis ? | Desmosterolosis is caused by mutations in the DHCR24 gene. This gene provides instructions for making an enzyme called 24-dehydrocholesterol reductase, which is involved in the production (synthesis) of cholesterol. Cholesterol is a waxy, fat-like substance that can be obtained from foods that come from animals (partic... | desmosterolosis |
Is desmosterolosis 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. | desmosterolosis |
What are the treatments for desmosterolosis ? | These resources address the diagnosis or management of desmosterolosis: - Genetic Testing Registry: Desmosterolosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... | desmosterolosis |
What is (are) 5-alpha reductase deficiency ? | 5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotes... | 5-alpha reductase deficiency |
How many people are affected by 5-alpha reductase deficiency ? | 5-alpha reductase deficiency is a rare condition; the exact incidence is unknown. Large families with affected members have been found in several countries, including the Dominican Republic, Papua New Guinea, Turkey, and Egypt. | 5-alpha reductase deficiency |
What are the genetic changes related to 5-alpha reductase deficiency ? | Mutations in the SRD5A2 gene cause 5-alpha reductase deficiency. The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. This enzyme is involved in processing androgens, which are hormones that direct male sexual development. Specifically, the enzyme is responsible for a chemical ... | 5-alpha reductase deficiency |
Is 5-alpha reductase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the SRD5A2 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. Although pe... | 5-alpha reductase deficiency |
What are the treatments for 5-alpha reductase deficiency ? | These resources address the diagnosis or management of 5-alpha reductase deficiency: - Genetic Testing Registry: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the d... | 5-alpha reductase deficiency |
What is (are) trisomy 13 ? | Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fi... | trisomy 13 |
How many people are affected by trisomy 13 ? | Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older. | trisomy 13 |
What are the genetic changes related to trisomy 13 ? | Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13. Trisomy 13 can also occur when part of chromosome 13 becomes attac... | trisomy 13 |
Is trisomy 13 inherited ? | Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosom... | trisomy 13 |
What are the treatments for trisomy 13 ? | These resources address the diagnosis or management of trisomy 13: - Genetic Testing Registry: Complete trisomy 13 syndrome - MedlinePlus Encyclopedia: Trisomy 13 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | trisomy 13 |
What is (are) cone-rod dystrophy ? | Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina grad... | cone-rod dystrophy |
How many people are affected by cone-rod dystrophy ? | Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals. | cone-rod dystrophy |
What are the genetic changes related to cone-rod dystrophy ? | Mutations in approximately 30 genes are known to cause cone-rod dystrophy. Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting f... | cone-rod dystrophy |
Is cone-rod dystrophy inherited ? | Cone-rod dystrophy is usually 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. Les... | cone-rod dystrophy |
What are the treatments for cone-rod dystrophy ? | These resources address the diagnosis or management of cone-rod dystrophy: - Cleveland Clinic: Eye Examinations: What to Expect - Genetic Testing Registry: CONE-ROD DYSTROPHY, AIPL1-RELATED - Genetic Testing Registry: Cone-rod dystrophy - Genetic Testing Registry: Cone-rod dystrophy 1 - Genetic Testing Registry: C... | cone-rod dystrophy |
What is (are) 8p11 myeloproliferative syndrome ? | 8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative synd... | 8p11 myeloproliferative syndrome |
How many people are affected by 8p11 myeloproliferative syndrome ? | The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition. | 8p11 myeloproliferative syndrome |
What are the genetic changes related to 8p11 myeloproliferative syndrome ? | 8p11 myeloproliferative syndrome is caused by rearrangements of genetic material (translocations) between two chromosomes. All of the translocations that cause this condition involve the FGFR1 gene, which is found on the short (p) arm of chromosome 8 at a position described as p11. The translocations lead to fusion of ... | 8p11 myeloproliferative syndrome |
Is 8p11 myeloproliferative 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. | 8p11 myeloproliferative syndrome |
What are the treatments for 8p11 myeloproliferative syndrome ? | These resources address the diagnosis or management of 8p11 myeloproliferative syndrome: - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options - Cancer.Net from the American S... | 8p11 myeloproliferative syndrome |
What is (are) microcephaly-capillary malformation syndrome ? | Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). In people with microcephaly-capillary malformation syndrome, microcephaly begins before ... | microcephaly-capillary malformation syndrome |
How many people are affected by microcephaly-capillary malformation syndrome ? | Microcephaly-capillary malformation syndrome is rare. About a dozen people have been diagnosed with the disorder. | microcephaly-capillary malformation syndrome |
What are the genetic changes related to microcephaly-capillary malformation syndrome ? | Microcephaly-capillary malformation syndrome results from mutations in the STAMBP gene. This gene provides instructions for making a protein called STAM binding protein. This protein plays a role in sorting damaged or unneeded proteins so they can be transported from the cell surface to specialized cell compartments th... | microcephaly-capillary malformation syndrome |
Is microcephaly-capillary malformation syndrome inherited ? | This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and ... | microcephaly-capillary malformation syndrome |
What are the treatments for microcephaly-capillary malformation syndrome ? | These resources address the diagnosis or management of microcephaly-capillary malformation syndrome: - Gene Review: Gene Review: Microcephaly-Capillary Malformation Syndrome - Genetic Testing Registry: Microcephaly-capillary malformation syndrome These resources from MedlinePlus offer information about the diagnosi... | microcephaly-capillary malformation syndrome |
What is (are) idiopathic inflammatory myopathy ? | Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age. The primary symptom of idio... | idiopathic inflammatory myopathy |
How many people are affected by idiopathic inflammatory myopathy ? | The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 cases per million people each year. For unknown reasons, polymyositis and dermatomyositis are about twice as common in women as in men, while sporadic inclusion body myositis is more common in men. | idiopathic inflammatory myopathy |
What are the genetic changes related to idiopathic inflammatory myopathy ? | Idiopathic inflammatory myopathy is thought to arise from a combination of genetic and environmental factors. The term "idiopathic" indicates that the specific cause of the disorder is unknown. Researchers have identified variations in several genes that may influence the risk of developing idiopathic inflammatory myo... | idiopathic inflammatory myopathy |
Is idiopathic inflammatory myopathy inherited ? | Most cases of idiopathic inflammatory myopathy are sporadic, which means they occur in people with no history of the disorder in their family. However, several people with idiopathic inflammatory myopathy have had close relatives with autoimmune disorders. Autoimmune diseases occur when the immune system malfunctions a... | idiopathic inflammatory myopathy |
What are the treatments for idiopathic inflammatory myopathy ? | These resources address the diagnosis or management of idiopathic inflammatory myopathy: - Genetic Testing Registry: Idiopathic myopathy - Genetic Testing Registry: Inclusion body myositis - Johns Hopkins Myositis Center: Diagnosis - Johns Hopkins Myositis Center: Treatment - Muscular Dystrophy Association: Facts ... | idiopathic inflammatory myopathy |
What is (are) bladder cancer ? | Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply without control or order. The bladder is a hollow, muscular organ in the lower abdomen that stores urine until it is ready to be excreted from the body. The most common type of bladder cancer begins in cells lining the inside... | bladder cancer |
How many people are affected by bladder cancer ? | In the United States, bladder cancer is the fourth most common type of cancer in men and the ninth most common cancer in women. About 45,000 men and 17,000 women are diagnosed with bladder cancer each year. | bladder cancer |
What are the genetic changes related to bladder cancer ? | As with most cancers, the exact causes of bladder cancer are not known; however, many risk factors are associated with this disease. Many of the major risk factors are environmental, such as smoking and exposure to certain industrial chemicals. Studies suggest that chronic bladder inflammation, a parasitic infection ca... | bladder cancer |
Is bladder cancer inherited ? | Bladder cancer is typically not inherited. Most often, tumors result from genetic mutations that occur in bladder cells during a person's lifetime. These noninherited genetic changes are called somatic mutations. | bladder cancer |
What are the treatments for bladder cancer ? | These resources address the diagnosis or management of bladder cancer: - Genetic Testing Registry: Malignant tumor of urinary bladder - MedlinePlus Encyclopedia: Bladder Cancer These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - ... | bladder cancer |
What is (are) Langer-Giedion syndrome ? | Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Multiple osteochondromas may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, t... | Langer-Giedion syndrome |
How many people are affected by Langer-Giedion syndrome ? | Langer-Giedion syndrome is a rare condition; its incidence is unknown. | Langer-Giedion syndrome |
What are the genetic changes related to Langer-Giedion syndrome ? | Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes on chromosome 8. Researchers have determined that the loss of a functional EXT1 gene is responsible for the multiple osteochondromas seen in people with Langer-Giedion syndrome. Loss of a functional TRPS1 gene may cause the other bone a... | Langer-Giedion syndrome |
Is Langer-Giedion syndrome inherited ? | Most cases of Langer-Giedion syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. There have been very few instances in which people with Lange... | Langer-Giedion syndrome |
What are the treatments for Langer-Giedion syndrome ? | These resources address the diagnosis or management of Langer-Giedion syndrome: - Genetic Testing Registry: Langer-Giedion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... | Langer-Giedion syndrome |
What is (are) FG syndrome ? | FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which range... | FG syndrome |
How many people are affected by FG syndrome ? | The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. Researchers suspect that FG syndrome may be overdiagnosed because many of its signs and symptoms are also seen with other disorders. | FG syndrome |
What are the genetic changes related to FG syndrome ? | Researchers have identified changes in five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in a gene called MED12, which is located in one of these regions, appear to be the most common cause of the disorder. Researchers are investigating genes in other regions of the X chrom... | FG syndrome |
Is FG syndrome inherited ? | FG syndrome is inherited in an X-linked recessive pattern. The genes likely associated with this disorder, including MED12, are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.... | FG syndrome |
What are the treatments for FG syndrome ? | These resources address the diagnosis or management of FG syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: FG syndrome - Genetic Testing Registry: FG syndrome 2 - Genetic Testing Registry: FG syndrome 3 - Genetic Testing Registry: FG syndrome 4 - Genetic Testing Registry: ... | FG syndrome |
What is (are) Schwartz-Jampel syndrome ? | Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. T... | Schwartz-Jampel syndrome |
How many people are affected by Schwartz-Jampel syndrome ? | Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases have been reported in the medical literature. | Schwartz-Jampel syndrome |
What are the genetic changes related to Schwartz-Jampel syndrome ? | Schwartz-Jampel syndrome is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein known as perlecan. This protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, it is found i... | Schwartz-Jampel syndrome |
Is Schwartz-Jampel 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. | Schwartz-Jampel syndrome |
What are the treatments for Schwartz-Jampel syndrome ? | These resources address the diagnosis or management of Schwartz-Jampel syndrome: - Genetic Testing Registry: Schwartz Jampel syndrome type 1 - National Institute of Neurological Disorders and Stroke: Myotonia Information Page These resources from MedlinePlus offer information about the diagnosis and management of v... | Schwartz-Jampel syndrome |
What is (are) Asperger syndrome ? | Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for their differences and live indepen... | Asperger syndrome |
How many people are affected by Asperger syndrome ? | The prevalence of Asperger syndrome is not well established. Estimates range from 1 in 250 to 1 in 5,000 children. Three to four times as many males are affected than females. Because of changes in the way developmental disorders are classified, Asperger syndrome was not often diagnosed in adults until recently, and t... | Asperger syndrome |
What are the genetic changes related to Asperger syndrome ? | While genetic factors are believed to contribute to the development of Asperger syndrome, no related genes have been confirmed. It is unclear whether certain gene variations that are being studied in other autism spectrum disorders will play a role in Asperger syndrome. It appears likely that a combination of genetic v... | Asperger syndrome |
Is Asperger syndrome inherited ? | Autism spectrum disorders including Asperger syndrome have a tendency to run in families, but the inheritance pattern is unknown. | Asperger syndrome |
What are the treatments for Asperger syndrome ? | These resources address the diagnosis or management of Asperger syndrome: - Genetic Testing Registry: Asperger syndrome 1 - Genetic Testing Registry: Asperger syndrome 2 - Genetic Testing Registry: Asperger syndrome 3 - Genetic Testing Registry: Asperger syndrome 4 - Genetic Testing Registry: Asperger syndrome X-l... | Asperger syndrome |
What is (are) mucopolysaccharidosis type IV ? | Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals. The first signs and symptoms of MPS IV usually become apparent during early childhood. Affected individuals develop v... | mucopolysaccharidosis type IV |
How many people are affected by mucopolysaccharidosis type IV ? | The exact prevalence of MPS IV is unknown, although it is estimated to occur in 1 in 200,000 to 300,000 individuals. | mucopolysaccharidosis type IV |
What are the genetic changes related to mucopolysaccharidosis type IV ? | Mutations in the GALNS and GLB1 genes cause MPS IV. These genes provide instructions for producing enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. When MPS IV is caused by mutations... | mucopolysaccharidosis type IV |
Is mucopolysaccharidosis type IV 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 IV |
What are the treatments for mucopolysaccharidosis type IV ? | These resources address the diagnosis or management of mucopolysaccharidosis type IV: - Genetic Testing Registry: Morquio syndrome - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-A - Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-B - MedlinePlus Encyclopedia: Morquio syndrome These resources fr... | mucopolysaccharidosis type IV |
What is (are) juvenile primary lateral sclerosis ? | Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.... | juvenile primary lateral sclerosis |
How many people are affected by juvenile primary lateral sclerosis ? | Juvenile primary lateral sclerosis is a rare disorder, with few reported cases. | juvenile primary lateral sclerosis |
What are the genetic changes related to juvenile primary lateral sclerosis ? | Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is... | juvenile primary lateral sclerosis |
Is juvenile primary lateral sclerosis inherited ? | When caused by mutations in the ALS2 gene, juvenile primary lateral sclerosis 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... | juvenile primary lateral sclerosis |
What are the treatments for juvenile primary lateral sclerosis ? | These resources address the diagnosis or management of juvenile primary lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Juvenile primary lateral sclerosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditi... | juvenile primary lateral sclerosis |
What is (are) spinal muscular atrophy ? | Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (... | spinal muscular atrophy |
How many people are affected by spinal muscular atrophy ? | Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people. | spinal muscular atrophy |
What are the genetic changes related to spinal muscular atrophy ? | Mutations in the SMN1, UBA1, DYNC1H1, and VAPB genes cause spinal muscular atrophy. Extra copies of the SMN2 gene modify the severity of spinal muscular atrophy. The SMN1 and SMN2 genes provide instructions for making a protein called the survival motor neuron (SMN) protein. The SMN protein is important for the mainte... | spinal muscular atrophy |
Is spinal muscular atrophy inherited ? | Types I, II, III, and IV spinal muscular atrophy are inherited in an autosomal recessive pattern, which means both copies of the SMN1 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 sym... | spinal muscular atrophy |
What are the treatments for spinal muscular atrophy ? | These resources address the diagnosis or management of spinal muscular atrophy: - Gene Review: Gene Review: Spinal Muscular Atrophy - Gene Review: Gene Review: Spinal Muscular Atrophy, X-Linked Infantile - Genetic Testing Registry: Adult proximal spinal muscular atrophy, autosomal dominant - Genetic Testing Registr... | spinal muscular atrophy |
What is (are) hereditary diffuse gastric cancer ? | Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining, making the lining thic... | hereditary diffuse gastric cancer |
How many people are affected by hereditary diffuse gastric cancer ? | Gastric cancer is the fourth most common form of cancer worldwide, affecting 900,000 people per year. HDGC probably accounts for less than 1 percent of these cases. | hereditary diffuse gastric cancer |
What are the genetic changes related to hereditary diffuse gastric cancer ? | It is likely that 30 to 40 percent of individuals with HDGC have a mutation in the CDH1 gene. The CDH1 gene provides instructions for making a protein called epithelial cadherin or E-cadherin. This protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavit... | hereditary diffuse gastric cancer |
Is hereditary diffuse gastric cancer inherited ? | HDGC is inherited in an autosomal dominant pattern, which means one copy of the altered CDH1 gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has one parent with the condition. | hereditary diffuse gastric cancer |
What are the treatments for hereditary diffuse gastric cancer ? | These resources address the diagnosis or management of hereditary diffuse gastric cancer: - American Cancer Society: How is Stomach Cancer Diagnosed? - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Genetic Testing Registry: Hereditary diffuse gastric cancer - MedlinePlus Encyclopedia: Gastric Cancer... | hereditary diffuse gastric cancer |
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