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What is (are) congenital insensitivity to pain ? | Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a ... | congenital insensitivity to pain |
How many people are affected by congenital insensitivity to pain ? | Congenital insensitivity to pain is a rare condition; about 20 cases have been reported in the scientific literature. | congenital insensitivity to pain |
What are the genetic changes related to congenital insensitivity to pain ? | Mutations in the SCN9A gene cause congenital insensitivity to pain. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and t... | congenital insensitivity to pain |
Is congenital insensitivity to pain 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 insensitivity to pain |
What are the treatments for congenital insensitivity to pain ? | These resources address the diagnosis or management of congenital insensitivity to pain: - Genetic Testing Registry: Indifference to pain, congenital, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... | congenital insensitivity to pain |
What is (are) Coffin-Lowry syndrome ? | Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women. Males with Coffin-Lowry syndrome typically have severe to profound intellectual dis... | Coffin-Lowry syndrome |
How many people are affected by Coffin-Lowry syndrome ? | The incidence of this condition is uncertain, but researchers estimate that the disorder affects 1 in 40,000 to 50,000 people. | Coffin-Lowry syndrome |
What are the genetic changes related to Coffin-Lowry syndrome ? | Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. This gene provides instructions for making a protein that is involved in signaling within cells. Researchers believe that this protein helps control the activity of other genes and plays an important role in the brain. The protein is involved in cell signaling ... | Coffin-Lowry syndrome |
Is Coffin-Lowry syndrome inherited ? | This condition is inherited in an X-linked dominant 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. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In m... | Coffin-Lowry syndrome |
What are the treatments for Coffin-Lowry syndrome ? | These resources address the diagnosis or management of Coffin-Lowry syndrome: - Gene Review: Gene Review: Coffin-Lowry Syndrome - Genetic Testing Registry: Coffin-Lowry syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... | Coffin-Lowry syndrome |
What is (are) hidradenitis suppurativa ? | Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin. The nodules become inflamed and painful. They tend to break open (rupture), causing abscesses that drain fluid and pus. As the abscesses heal, they produce significant sca... | hidradenitis suppurativa |
How many people are affected by hidradenitis suppurativa ? | Hidradenitis suppurativa was once thought to be a rare condition because only the most severe cases were reported. However, recent studies have shown that the condition affects at least 1 in 100 people when milder cases are also considered. For reasons that are unclear, women are about twice as likely as men to develop... | hidradenitis suppurativa |
What are the genetic changes related to hidradenitis suppurativa ? | In most cases, the cause of hidradenitis suppurativa is unknown. The condition probably results from a combination of genetic and environmental factors. Originally, researchers believed that the disorder was caused by the blockage of specialized sweat glands called apocrine glands. However, recent studies have shown th... | hidradenitis suppurativa |
Is hidradenitis suppurativa inherited ? | Hidradenitis suppurativa has been reported to run in families. Studies have found that 30 to 40 percent of affected individuals have at least one family member with the disorder. However, this finding may be an underestimate because affected individuals do not always tell their family members that they have the conditi... | hidradenitis suppurativa |
What are the treatments for hidradenitis suppurativa ? | These resources address the diagnosis or management of hidradenitis suppurativa: - American Academy of Dermatology: Hidradenitis Suppurativa: Diagnosis, Treatment, and Outcome - Genetic Testing Registry: Hidradenitis suppurativa, familial These resources from MedlinePlus offer information about the diagnosis and ma... | hidradenitis suppurativa |
What is (are) carnitine-acylcarnitine translocase deficiency ? | Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat ... | carnitine-acylcarnitine translocase deficiency |
How many people are affected by carnitine-acylcarnitine translocase deficiency ? | CACT deficiency is very rare; at least 30 cases have been reported. | carnitine-acylcarnitine translocase deficiency |
What are the genetic changes related to carnitine-acylcarnitine translocase deficiency ? | Mutations in the SLC25A20 gene cause CACT deficiency. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation ta... | carnitine-acylcarnitine translocase deficiency |
Is carnitine-acylcarnitine translocase 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. | carnitine-acylcarnitine translocase deficiency |
What are the treatments for carnitine-acylcarnitine translocase deficiency ? | These resources address the diagnosis or management of CACT deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Genetic Testing Registry: Carnitine acylcarnitine translocase deficiency These resourc... | carnitine-acylcarnitine translocase deficiency |
What is (are) adenosine monophosphate deaminase deficiency ? | Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. In most people, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typ... | adenosine monophosphate deaminase deficiency |
How many people are affected by adenosine monophosphate deaminase deficiency ? | AMP deaminase deficiency is one of the most common inherited muscle disorders in white populations, affecting 1 in 50 to 100 people. The prevalence is lower in African Americans, affecting an estimated 1 in 40,000 people, and the condition is even less common in the Japanese population. | adenosine monophosphate deaminase deficiency |
What are the genetic changes related to adenosine monophosphate deaminase deficiency ? | Mutations in the AMPD1 gene cause AMP deaminase deficiency. The AMPD1 gene provides instructions for producing an enzyme called AMP deaminase. This enzyme is found in skeletal muscle, where it plays a role in producing energy within muscle cells. Mutations in the AMPD1 gene disrupt the function of AMP deaminase and imp... | adenosine monophosphate deaminase deficiency |
Is adenosine monophosphate deaminase 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. | adenosine monophosphate deaminase deficiency |
What are the treatments for adenosine monophosphate deaminase deficiency ? | These resources address the diagnosis or management of adenosine monophosphate deaminase deficiency: - MedlinePlus Encyclopedia: Muscle aches - MedlinePlus Encyclopedia: Weakness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... | adenosine monophosphate deaminase deficiency |
What is (are) vitiligo ? | Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). The average age of onset of vitiligo is in the mid-twenties, but it can appear at any age. It tends to progress over time, with larger areas of the skin losing pigment. Some people with vitiligo also have patches of pigment loss affecting ... | vitiligo |
How many people are affected by vitiligo ? | Vitiligo is a common disorder, affecting between 0.5 percent and 1 percent of the population worldwide. While the condition may be more noticeable in dark-skinned people, it occurs with similar frequency in all ethnic groups. | vitiligo |
What are the genetic changes related to vitiligo ? | Variations in over 30 genes, occurring in different combinations, have been associated with an increased risk of developing vitiligo. Two of these genes are NLRP1 and PTPN22. The NLRP1 gene provides instructions for making a protein that is involved in the immune system, helping to regulate the process of inflammation.... | vitiligo |
Is vitiligo inherited ? | Vitiligo sometimes runs in families, but the inheritance pattern is complex since multiple causative factors are involved. About one-fifth of people with this condition have at least one close relative who is also affected. | vitiligo |
What are the treatments for vitiligo ? | These resources address the diagnosis or management of vitiligo: - Genetic Testing Registry: Vitiligo - Vitiligo Support International: Vitiligo Treatments and Research These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... | vitiligo |
What is (are) Rotor syndrome ? | Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes ... | Rotor syndrome |
How many people are affected by Rotor syndrome ? | Rotor syndrome is a rare condition, although its prevalence is unknown. | Rotor syndrome |
What are the genetic changes related to Rotor syndrome ? | The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1... | Rotor syndrome |
Is Rotor syndrome inherited ? | This condition is inherited in an autosomal recessive pattern. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. In Rotor syndrome, an affected individual must have mutations in both the SLCO1B1 and the SLCO1B3 gene, so both copies of the two genes are altered. The parents of an ind... | Rotor syndrome |
What are the treatments for Rotor syndrome ? | These resources address the diagnosis or management of Rotor syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Gene Review: Gene Review: Rotor Syndrome - Genetic Testing Registry: Rotor syndrome These resources from MedlinePlus offer information about the diagnosis and ... | Rotor syndrome |
What is (are) cyclic neutropenia ? | Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation... | cyclic neutropenia |
How many people are affected by cyclic neutropenia ? | Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 million individuals worldwide. | cyclic neutropenia |
What are the genetic changes related to cyclic neutropenia ? | Mutations in the ELANE gene cause cyclic neutropenia. The ELANE gene provides instructions for making a protein called neutrophil elastase, which is found in neutrophils. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of ce... | cyclic neutropenia |
Is cyclic neutropenia inherited ? | Cyclic neutropenia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no hi... | cyclic neutropenia |
What are the treatments for cyclic neutropenia ? | These resources address the diagnosis or management of cyclic neutropenia: - Gene Review: Gene Review: ELANE-Related Neutropenia - Genetic Testing Registry: Cyclical neutropenia - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health con... | cyclic neutropenia |
What is (are) adenylosuccinate lyase deficiency ? | Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with ... | adenylosuccinate lyase deficiency |
How many people are affected by adenylosuccinate lyase deficiency ? | Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases have been reported. The condition is most common in the Netherlands and Belgium, but it has been found worldwide. | adenylosuccinate lyase deficiency |
What are the genetic changes related to adenylosuccinate lyase deficiency ? | All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. This gene provides instructions for making an enzyme called adenylosuccinate lyase, which performs two steps in the process that produces purine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, an... | adenylosuccinate lyase deficiency |
Is adenylosuccinate lyase 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. | adenylosuccinate lyase deficiency |
What are the treatments for adenylosuccinate lyase deficiency ? | These resources address the diagnosis or management of adenylosuccinate lyase deficiency: - Genetic Testing Registry: Adenylosuccinate lyase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery an... | adenylosuccinate lyase deficiency |
What is (are) neuromyelitis optica ? | Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack causes... | neuromyelitis optica |
How many people are affected by neuromyelitis optica ? | Neuromyelitis optica affects approximately 1 to 2 per 100,000 people worldwide. Women are affected by this condition more frequently than men. | neuromyelitis optica |
What are the genetic changes related to neuromyelitis optica ? | No genes associated with neuromyelitis optica have been identified. However, a small percentage of people with this condition have a family member who is also affected, which indicates that there may be one or more genetic changes that increase susceptibility. It is thought that the inheritance of this condition is com... | neuromyelitis optica |
Is neuromyelitis optica inherited ? | Neuromyelitis optica is usually not inherited. Rarely, this condition is passed through generations in families, but the inheritance pattern is unknown. | neuromyelitis optica |
What are the treatments for neuromyelitis optica ? | These resources address the diagnosis or management of neuromyelitis optica: - Genetic Testing Registry: Neuromyelitis optica - National Institute of Neurological Disorders and Stroke: Neuromyelitis Optica Information Page - The Transverse Myelitis Association: Acute Treatments These resources from MedlinePlus off... | neuromyelitis optica |
What is (are) mucopolysaccharidosis type VII ? | Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals. The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in ... | mucopolysaccharidosis type VII |
How many people are affected by mucopolysaccharidosis type VII ? | The exact incidence of MPS VII is unknown, although it is estimated to occur in 1 in 250,000 newborns. It is one of the rarest types of mucopolysaccharidosis. | mucopolysaccharidosis type VII |
What are the genetic changes related to mucopolysaccharidosis type VII ? | Mutations in the GUSB gene cause MPS VII. This gene provides instructions for producing the beta-glucuronidase (-glucuronidase) enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its na... | mucopolysaccharidosis type VII |
Is mucopolysaccharidosis type VII 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 VII |
What are the treatments for mucopolysaccharidosis type VII ? | These resources address the diagnosis or management of mucopolysaccharidosis type VII: - Genetic Testing Registry: Mucopolysaccharidosis type VII - National MPS Society: A Guide to Understanding MPS VII These resources from MedlinePlus offer information about the diagnosis and management of various health condition... | mucopolysaccharidosis type VII |
What is (are) Alzheimer disease ? | Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood. Memory loss is the most common sign of Alzhei... | Alzheimer disease |
How many people are affected by Alzheimer disease ? | Alzheimer disease currently affects an estimated 2.4 million to 4.5 million Americans. Because the risk of developing Alzheimer disease increases with age and more people are living longer, the number of people with this disease is expected to increase significantly in coming decades. | Alzheimer disease |
What are the genetic changes related to Alzheimer disease ? | Most cases of early-onset Alzheimer disease are caused by gene mutations that can be passed from parent to child. Researchers have found that this form of the disorder can result from mutations in one of three genes: APP, PSEN1, or PSEN2. When any of these genes is altered, large amounts of a toxic protein fragment cal... | Alzheimer disease |
Is Alzheimer disease inherited ? | The early-onset form of Alzheimer disease 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 altered gene from one affected parent. The inheritance pattern of late-onset Alzheimer disea... | Alzheimer disease |
What are the treatments for Alzheimer disease ? | These resources address the diagnosis or management of Alzheimer disease: - Alzheimer's Disease Research Center, Washington University School of Medicine - Gene Review: Gene Review: Alzheimer Disease Overview - Gene Review: Gene Review: Early-Onset Familial Alzheimer Disease - Genetic Testing Registry: Alzheimer di... | Alzheimer disease |
What is (are) autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is c... | autosomal recessive axonal neuropathy with neuromyotonia |
How many people are affected by autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of inherited peripheral neuropathy. This group of conditions affects an estimated 1 in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with neuromyotonia is unknown. | autosomal recessive axonal neuropathy with neuromyotonia |
What are the genetic changes related to autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1 gene. This gene provides instructions for making a protein that is involved in the function of the nervous system; however its specific role is not well understood. Laboratory studies show that the HINT1 protein has the ability... | autosomal recessive axonal neuropathy with neuromyotonia |
Is autosomal recessive axonal neuropathy with neuromyotonia 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. | autosomal recessive axonal neuropathy with neuromyotonia |
What are the treatments for autosomal recessive axonal neuropathy with neuromyotonia ? | These resources address the diagnosis or management of autosomal recessive axonal neuropathy with neuromyotonia: - Genetic Testing Registry: Gamstorp-Wohlfart syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Thera... | autosomal recessive axonal neuropathy with neuromyotonia |
What is (are) protein C deficiency ? | Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from th... | protein C deficiency |
How many people are affected by protein C deficiency ? | Mild protein C deficiency affects approximately 1 in 500 individuals. Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million newborns. | protein C deficiency |
What are the genetic changes related to protein C deficiency ? | Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting. Most of the mutations that ... | protein C deficiency |
Is protein C deficiency inherited ? | Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency. | protein C deficiency |
What are the treatments for protein C deficiency ? | These resources address the diagnosis or management of protein C deficiency: - Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protei... | protein C deficiency |
What is (are) Bannayan-Riley-Ruvalcaba syndrome ? | Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparen... | Bannayan-Riley-Ruvalcaba syndrome |
How many people are affected by Bannayan-Riley-Ruvalcaba syndrome ? | The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it appears to be rare. Several dozen cases have been reported in the medical literature. Researchers suspect that the disorder is underdiagnosed because its signs and symptoms vary and some of them are subtle. | Bannayan-Riley-Ruvalcaba syndrome |
What are the genetic changes related to Bannayan-Riley-Ruvalcaba syndrome ? | About 60 percent of all cases of Bannayan-Riley-Ruvalcaba syndrome result from mutations in the PTEN gene. Another 10 percent of cases are caused by a large deletion of genetic material that includes part or all of this gene. The protein produced from the PTEN gene is a tumor suppressor, which means that it normally pr... | Bannayan-Riley-Ruvalcaba syndrome |
Is Bannayan-Riley-Ruvalcaba 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. | Bannayan-Riley-Ruvalcaba syndrome |
What are the treatments for Bannayan-Riley-Ruvalcaba syndrome ? | These resources address the diagnosis or management of Bannayan-Riley-Ruvalcaba syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Bannayan-Riley-Ruvalcaba syndrome - University of Iowa: Bannayan-Ruvalcaba-Riley Syndrome (BRRS): A Guide for Patients and Their Famil... | Bannayan-Riley-Ruvalcaba syndrome |
What is (are) MECP2-related severe neonatal encephalopathy ? | MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appea... | MECP2-related severe neonatal encephalopathy |
How many people are affected by MECP2-related severe neonatal encephalopathy ? | MECP2-related severe neonatal encephalopathy is likely a rare condition. Twenty to 30 affected males have been reported in the scientific literature. | MECP2-related severe neonatal encephalopathy |
What are the genetic changes related to MECP2-related severe neonatal encephalopathy ? | Mutations in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them ... | MECP2-related severe neonatal encephalopathy |
Is MECP2-related severe neonatal encephalopathy inherited ? | MECP2-related severe neonatal encephalopathy has an X-linked 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 in each cell. In males, who have only one X chromosome, a mutation in the only copy of the g... | MECP2-related severe neonatal encephalopathy |
What are the treatments for MECP2-related severe neonatal encephalopathy ? | These resources address the diagnosis or management of MECP2-related severe neonatal encephalopathy: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Severe neonatal-onset encephalopathy with microcephaly - Johns Hopkins Childr... | MECP2-related severe neonatal encephalopathy |
What is (are) protein S deficiency ? | Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots. Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. If a DVT travels th... | protein S deficiency |
How many people are affected by protein S deficiency ? | Mild protein S deficiency is estimated to occur in approximately 1 in 500 individuals. Severe protein S deficiency is rare; however, its exact prevalence is unknown. | protein S deficiency |
What are the genetic changes related to protein S deficiency ? | Protein S deficiency is caused by mutations in the PROS1 gene. This gene provides instructions for making protein S, which is found in the bloodstream and is important for controlling blood clotting. Protein S helps block the activity of (inactivate) certain proteins that promote the formation of blood clots. Most mut... | protein S deficiency |
Is protein S deficiency inherited ? | Protein S deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROS1 gene in each cell is sufficient to cause mild protein S deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein S deficiency. | protein S deficiency |
What are the treatments for protein S deficiency ? | These resources address the diagnosis or management of protein S deficiency: - Genetic Testing Registry: Protein S deficiency - MedlinePlus Encyclopedia: Congenital Protein C or S Deficiency - MedlinePlus Encyclopedia: Necrosis - MedlinePlus Encyclopedia: Protein S - MedlinePlus Encyclopedia: Purpura These resou... | protein S deficiency |
What is (are) polycythemia vera ? | Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells cause the blood to be thicker than normal. As a result, abnormal blood clots are more like... | polycythemia vera |
How many people are affected by polycythemia vera ? | The prevalence of polycythemia vera varies worldwide. The condition affects an estimated 44 to 57 per 100,000 individuals in the United States. For unknown reasons, men develop polycythemia vera more frequently than women. | polycythemia vera |
What are the genetic changes related to polycythemia vera ? | Mutations in the JAK2 and TET2 genes are associated with polycythemia vera. Although it remains unclear exactly what initiates polycythemia vera, researchers believe that it begins when mutations occur in the DNA of a hematopoietic stem cell. These stem cells are located in the bone marrow and have the potential to dev... | polycythemia vera |
Is polycythemia vera inherited ? | Most cases of polycythemia vera are not inherited. This condition is associated with genetic changes that are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. In rare instances, polycythemia vera has been found to run in families. In some of these families, the r... | polycythemia vera |
What are the treatments for polycythemia vera ? | These resources address the diagnosis or management of polycythemia vera: - Genetic Testing Registry: Polycythemia vera - MPN Research Foundation: Diagnosis - MedlinePlus Encyclopedia: Polycythemia Vera These resources from MedlinePlus offer information about the diagnosis and management of various health conditio... | polycythemia vera |
What is (are) pontocerebellar hypoplasia ? | Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area c... | pontocerebellar hypoplasia |
How many people are affected by pontocerebellar hypoplasia ? | The prevalence of pontocerebellar hypoplasia is unknown, although most forms of the disorder appear to be very rare. | pontocerebellar hypoplasia |
What are the genetic changes related to pontocerebellar hypoplasia ? | Pontocerebellar hypoplasia can result from mutations in several genes. About half of all cases of PCH1 are caused by mutations in the EXOSC3 gene. PCH1 can also result from mutations in several other genes, including TSEN54, RARS2, and VRK1. PCH2 is caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. In ... | pontocerebellar hypoplasia |
Is pontocerebellar hypoplasia 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. | pontocerebellar hypoplasia |
What are the treatments for pontocerebellar hypoplasia ? | These resources address the diagnosis or management of pontocerebellar hypoplasia: - Gene Review: Gene Review: EXOSC3-Related Pontocerebellar Hypoplasia - Gene Review: Gene Review: TSEN54-Related Pontocerebellar Hypoplasia - Genetic Testing Registry: Pontoneocerebellar hypoplasia - MedlinePlus Encyclopedia: Microce... | pontocerebellar hypoplasia |
What is (are) adenosine deaminase deficiency ? | Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-... | adenosine deaminase deficiency |
How many people are affected by adenosine deaminase deficiency ? | Adenosine deaminase deficiency is very rare and is estimated to occur in approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is responsible for approximately 15 percent of SCID cases. | adenosine deaminase deficiency |
What are the genetic changes related to adenosine deaminase deficiency ? | Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful i... | adenosine deaminase deficiency |
Is adenosine deaminase 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. | adenosine deaminase deficiency |
What are the treatments for adenosine deaminase deficiency ? | These resources address the diagnosis or management of ADA deficiency: - American Society of Gene and Cell Therapy: Gene Therapy for Genetic Disorders - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: Adenosine Deaminase Deficiency - Genetic Testing Registry: Severe combined immunode... | adenosine deaminase deficiency |
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