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What is (are) distal arthrogryposis type 1 ? | Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fin... | distal arthrogryposis type 1 |
How many people are affected by distal arthrogryposis type 1 ? | Distal arthrogryposis type 1 affects an estimated 1 in 10,000 people worldwide. | distal arthrogryposis type 1 |
What are the genetic changes related to distal arthrogryposis type 1 ? | Distal arthrogryposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1. These genes are active (expressed) in muscle cells, where they interact with other muscle proteins to help regulate the tensing of muscle fibers (muscle contraction). It is unclear how mutations in the TPM2 and MYBPC1 genes ... | distal arthrogryposis type 1 |
Is distal arthrogryposis type 1 inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, a person with distal arthrogryposis type 1 has a parent and other close family members with the condition. | distal arthrogryposis type 1 |
What are the treatments for distal arthrogryposis type 1 ? | These resources address the diagnosis or management of distal arthrogryposis type 1: - Genetic Testing Registry: Arthrogryposis multiplex congenita distal type 1 - Merck Manual for Health Care Professionals - New York University Langone Medical Center These resources from MedlinePlus offer information about the di... | distal arthrogryposis type 1 |
What is (are) chronic granulomatous disease ? | Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease... | chronic granulomatous disease |
How many people are affected by chronic granulomatous disease ? | Chronic granulomatous disease is estimated to occur in 1 in 200,000 to 250,000 people worldwide. | chronic granulomatous disease |
What are the genetic changes related to chronic granulomatous disease ? | Mutations in the CYBA, CYBB, NCF1, NCF2, or NCF4 gene can cause chronic granulomatous disease. There are five types of this condition that are distinguished by the gene that is involved. The proteins produced from the affected genes are parts (subunits) of an enzyme complex called NADPH oxidase, which plays an essentia... | chronic granulomatous disease |
Is chronic granulomatous disease inherited ? | When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. The CYBB gene is 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 sufficie... | chronic granulomatous disease |
What are the treatments for chronic granulomatous disease ? | These resources address the diagnosis or management of chronic granulomatous disease: - American Academy of Allergy, Asthma, and Immunology - Gene Review: Gene Review: Chronic Granulomatous Disease - Genetic Testing Registry: Chronic granulomatous disease, X-linked - Genetic Testing Registry: Chronic granulomatous ... | chronic granulomatous disease |
What is (are) factor X deficiency ? | Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of... | factor X deficiency |
How many people are affected by factor X deficiency ? | Factor X deficiency occurs in approximately 1 per million individuals worldwide. | factor X deficiency |
What are the genetic changes related to factor X deficiency ? | The inherited form of factor X deficiency, known as congenital factor X deficiency, is caused by mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood... | factor X deficiency |
Is factor X deficiency inherited ? | When this condition is caused by mutations in the F10 gene, it 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... | factor X deficiency |
What are the treatments for factor X deficiency ? | These resources address the diagnosis or management of factor X deficiency: - Genetic Testing Registry: Factor X deficiency - MedlinePlus Encyclopedia: Factor X Assay These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Thera... | factor X deficiency |
What is (are) osteopetrosis ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | osteopetrosis |
How many people are affected by osteopetrosis ? | Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 in 250,000 people. Other forms of osteopetrosis are very rare. Only a few cases of intermediate autosomal osteopetrosis and OL-EDA-ID hav... | osteopetrosis |
What are the genetic changes related to osteopetrosis ? | Mutations in at least nine genes cause the various types of osteopetrosis. Mutations in the CLCN7 gene are responsible for about 75 percent of cases of autosomal dominant osteopetrosis, 10 to 15 percent of cases of autosomal recessive osteopetrosis, and all known cases of intermediate autosomal osteopetrosis. TCIRG1 ge... | osteopetrosis |
Is osteopetrosis inherited ? | Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant osteopetrosis inherit the condition from an affected ... | osteopetrosis |
What are the treatments for osteopetrosis ? | These resources address the diagnosis or management of osteopetrosis: - Gene Review: Gene Review: CLCN7-Related Osteopetrosis - Genetic Testing Registry: Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema - Genetic Testing Registry: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 - Genetic ... | osteopetrosis |
What is (are) leukocyte adhesion deficiency type 1 ? | Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from bir... | leukocyte adhesion deficiency type 1 |
How many people are affected by leukocyte adhesion deficiency type 1 ? | Leukocyte adhesion deficiency type 1 is estimated to occur in 1 per million people worldwide. At least 300 cases of this condition have been reported in the scientific literature. | leukocyte adhesion deficiency type 1 |
What are the genetic changes related to leukocyte adhesion deficiency type 1 ? | Mutations in the ITGB2 gene cause leukocyte adhesion deficiency type 1. This gene provides instructions for making one part (the 2 subunit) of at least four different proteins known as 2 integrins. Integrins that contain the 2 subunit are found embedded in the membrane that surrounds white blood cells (leukocytes). The... | leukocyte adhesion deficiency type 1 |
Is leukocyte adhesion deficiency type 1 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. | leukocyte adhesion deficiency type 1 |
What are the treatments for leukocyte adhesion deficiency type 1 ? | These resources address the diagnosis or management of leukocyte adhesion deficiency type 1: - Genetic Testing Registry: Leukocyte adhesion deficiency type 1 - MedlinePlus Encyclopedia: Gingivitis - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Primary Immune Deficiency Treatment Consortium These resourc... | leukocyte adhesion deficiency type 1 |
What is (are) Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is a group of progressive disorders that affect 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. Damage to the peripheral nerves can result in loss of sensation and wasting ... | Charcot-Marie-Tooth disease |
How many people are affected by Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals. | Charcot-Marie-Tooth disease |
What are the genetic changes related to Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that... | Charcot-Marie-Tooth disease |
Is Charcot-Marie-Tooth disease inherited ? | The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an af... | Charcot-Marie-Tooth disease |
What are the treatments for Charcot-Marie-Tooth disease ? | These resources address the diagnosis or management of Charcot-Marie-Tooth disease: - Gene Review: Gene Review: Charcot-Marie-Tooth Hereditary Neuropathy Overview - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 1 - Gene Review: Gene Review: Charcot-Marie-Tooth Neuropathy Type 2 - Gene Review: Gene R... | Charcot-Marie-Tooth disease |
What is (are) Griscelli syndrome ? | Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 invol... | Griscelli syndrome |
How many people are affected by Griscelli syndrome ? | Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types. | Griscelli syndrome |
What are the genetic changes related to Griscelli syndrome ? | The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene. The proteins produced from these genes are found in pigment-producing cells called mel... | Griscelli syndrome |
Is Griscelli 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. | Griscelli syndrome |
What are the treatments for Griscelli syndrome ? | These resources address the diagnosis or management of Griscelli syndrome: - Genetic Testing Registry: Griscelli syndrome type 1 - Genetic Testing Registry: Griscelli syndrome type 2 - Genetic Testing Registry: Griscelli syndrome type 3 These resources from MedlinePlus offer information about the diagnosis and man... | Griscelli syndrome |
What is (are) junctional epidermolysis bullosa ? | Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional e... | junctional epidermolysis bullosa |
How many people are affected by junctional epidermolysis bullosa ? | Both types of junctional epidermolysis bullosa are rare, affecting fewer than 1 per million people in the United States. | junctional epidermolysis bullosa |
What are the genetic changes related to junctional epidermolysis bullosa ? | Junctional epidermolysis bullosa results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause Herlitz JEB or non-Herlitz JEB. LAMB3 gene mutations are the most common, causing about 70 percent of all cases of junctional epidermolysis bullosa. The LAMA3, LAMB3, and LA... | junctional epidermolysis bullosa |
Is junctional epidermolysis bullosa inherited ? | Both types of junctional epidermolysis bullosa are 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 o... | junctional epidermolysis bullosa |
What are the treatments for junctional epidermolysis bullosa ? | These resources address the diagnosis or management of junctional epidermolysis bullosa: - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Junctional Epidermolysis Bullosa - Genetic Testing Registry: Adult junctional epidermolysis bullosa - Genetic Testing Reg... | junctional epidermolysis bullosa |
What is (are) Horner syndrome ? | Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves. Horner syndrome can appear at any time of life; in about 5 percent of affected individuals, the disorder is present from birth (congenital). Horner syndrome is characterized ... | Horner syndrome |
How many people are affected by Horner syndrome ? | About 1 in 6,250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder. | Horner syndrome |
What are the genetic changes related to Horner syndrome ? | Although congenital Horner syndrome can be passed down in families, no associated genes have been identified. Horner syndrome that appears after the newborn period (acquired Horner syndrome) and most cases of congenital Horner syndrome result from damage to nerves called the cervical sympathetics. These nerves belong t... | Horner syndrome |
Is Horner syndrome inherited ? | Horner syndrome is usually not inherited and occurs in individuals with no history of the disorder in their family. Acquired Horner syndrome and most cases of congenital Horner syndrome have nongenetic causes. Rarely, congenital Horner syndrome is passed down within a family in a pattern that appears to be autosomal do... | Horner syndrome |
What are the treatments for Horner syndrome ? | These resources address the diagnosis or management of Horner syndrome: - Genetic Testing Registry: Horner syndrome, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene... | Horner syndrome |
What is (are) familial erythrocytosis ? | Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, noseb... | familial erythrocytosis |
How many people are affected by familial erythrocytosis ? | Familial erythrocytosis is a rare condition; its prevalence is unknown. | familial erythrocytosis |
What are the genetic changes related to familial erythrocytosis ? | Familial erythrocytosis can result from mutations in the EPOR, VHL, EGLN1, or EPAS1 gene. Researchers define four types of familial erythrocytosis, ECYT1 through ECYT4, based on which of these genes is altered. The EPOR gene provides instructions for making a protein known as the erythropoietin receptor, which is foun... | familial erythrocytosis |
Is familial erythrocytosis inherited ? | Familial erythrocytosis can have different inheritance patterns depending on the gene involved. When the condition is caused by mutations in the EPOR, EGLN1, or EPAS1 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient ... | familial erythrocytosis |
What are the treatments for familial erythrocytosis ? | These resources address the diagnosis or management of familial erythrocytosis: - Genetic Testing Registry: Erythrocytosis, familial, 2 - Genetic Testing Registry: Erythrocytosis, familial, 3 - Genetic Testing Registry: Erythrocytosis, familial, 4 - Genetic Testing Registry: Familial erythrocytosis, 1 - MedlinePlu... | familial erythrocytosis |
What is (are) rippling muscle disease ? | Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across ... | rippling muscle disease |
How many people are affected by rippling muscle disease ? | The prevalence of rippling muscle disease is unknown. | rippling muscle disease |
What are the genetic changes related to rippling muscle disease ? | Rippling muscle disease can be caused by mutations in the CAV3 gene. Muscle conditions caused by CAV3 gene mutations are called caveolinopathies. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of cav... | rippling muscle disease |
Is rippling muscle disease inherited ? | Rippling muscle disease is usually inherited in an autosomal dominant pattern, but it is occasionally inherited in an autosomal recessive pattern. Autosomal dominant inheritance means that one copy of an altered CAV3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one paren... | rippling muscle disease |
What are the treatments for rippling muscle disease ? | These resources address the diagnosis or management of rippling muscle disease: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: Rippling muscle disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - ... | rippling muscle disease |
What is (are) hypokalemic periodic paralysis ? | Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. ... | hypokalemic periodic paralysis |
How many people are affected by hypokalemic periodic paralysis ? | Although its exact prevalence is unknown, hypokalemic periodic paralysis is estimated to affect 1 in 100,000 people. Men tend to experience symptoms of this condition more often than women. | hypokalemic periodic paralysis |
What are the genetic changes related to hypokalemic periodic paralysis ? | Mutations in the CACNA1S and SCN4A genes cause hypokalemic periodic paralysis. The CACNA1S and SCN4A genes provide instructions for making proteins that play 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 ... | hypokalemic periodic paralysis |
Is hypokalemic 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. | hypokalemic periodic paralysis |
What are the treatments for hypokalemic periodic paralysis ? | These resources address the diagnosis or management of hypokalemic periodic paralysis: - Gene Review: Gene Review: Hypokalemic Periodic Paralysis - Genetic Testing Registry: Hypokalemic periodic paralysis - MedlinePlus Encyclopedia: Hypokalemic periodic paralysis These resources from MedlinePlus offer information ... | hypokalemic periodic paralysis |
What is (are) neuropathy, ataxia, and retinitis pigmentosa ? | Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and pro... | neuropathy, ataxia, and retinitis pigmentosa |
How many people are affected by neuropathy, ataxia, and retinitis pigmentosa ? | The prevalence of NARP is unknown. This disorder is probably less common than a similar but more severe condition, Leigh syndrome, which affects about 1 in 40,000 people. | neuropathy, ataxia, and retinitis pigmentosa |
What are the genetic changes related to neuropathy, ataxia, and retinitis pigmentosa ? | NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small am... | neuropathy, ataxia, and retinitis pigmentosa |
Is neuropathy, ataxia, and retinitis pigmentosa inherited ? | This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutatio... | neuropathy, ataxia, and retinitis pigmentosa |
What are the treatments for neuropathy, ataxia, and retinitis pigmentosa ? | These resources address the diagnosis or management of NARP: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Neuropathy ataxia retinitis pigmentosa syndrome - MedlinePlus Encyclopedia: Retinitis... | neuropathy, ataxia, and retinitis pigmentosa |
What is (are) spastic paraplegia type 2 ? | Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and ... | spastic paraplegia type 2 |
How many people are affected by spastic paraplegia type 2 ? | The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 2 likely accounts for only a small percentage of all spastic paraplegia cases. | spastic paraplegia type 2 |
What are the genetic changes related to spastic paraplegia type 2 ? | Mutations in the PLP1 gene cause spastic paraplegia 2. The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the brain and spinal cord (central nervous system) and are the ma... | spastic paraplegia type 2 |
Is spastic paraplegia type 2 inherited ? | This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the co... | spastic paraplegia type 2 |
What are the treatments for spastic paraplegia type 2 ? | These resources address the diagnosis or management of spastic paraplegia type 2: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Spastic paraplegia 2 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies T... | spastic paraplegia type 2 |
What is (are) adermatoglyphia ? | Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have th... | adermatoglyphia |
How many people are affected by adermatoglyphia ? | Adermatoglyphia appears to be a rare condition. Only a few affected families have been identified worldwide. | adermatoglyphia |
What are the genetic changes related to adermatoglyphia ? | Adermatoglyphia is caused by mutations in the SMARCAD1 gene. This gene provides information for making two versions of the SMARCAD1 protein: a full-length version that is active (expressed) in multiple tissues and a shorter version that is expressed only in the skin. Studies suggest that the full-length SMARCAD1 protei... | adermatoglyphia |
Is adermatoglyphia inherited ? | Adermatoglyphia is inherited in an autosomal dominant pattern, which means one copy of the altered SMARCAD1 gene in each cell is sufficient to cause the condition. In many cases, an affected person has one parent with the condition. | adermatoglyphia |
What are the treatments for adermatoglyphia ? | These resources address the diagnosis or management of adermatoglyphia: - Genetic Testing Registry: Adermatoglyphia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... | adermatoglyphia |
What is (are) megalencephalic leukoencephalopathy with subcortical cysts ? | Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. Megalencephaly leads to an increase in the size ... | megalencephalic leukoencephalopathy with subcortical cysts |
How many people are affected by megalencephalic leukoencephalopathy with subcortical cysts ? | Megalencephalic leukoencephalopathy with subcortical cysts is a rare condition; its exact prevalence is unknown. More than 150 cases have been reported in the scientific literature. | megalencephalic leukoencephalopathy with subcortical cysts |
What are the genetic changes related to megalencephalic leukoencephalopathy with subcortical cysts ? | Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. The MLC1 gene provides instructions for producing a protein that is made primarily in the brain. The MLC1 protein is found in astroglial cells, which are a specialized form... | megalencephalic leukoencephalopathy with subcortical cysts |
Is megalencephalic leukoencephalopathy with subcortical cysts inherited ? | All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a gene in each cell have mutations.... | megalencephalic leukoencephalopathy with subcortical cysts |
What are the treatments for megalencephalic leukoencephalopathy with subcortical cysts ? | These resources address the diagnosis or management of megalencephalic leukoencephalopathy with subcortical cysts: - Gene Review: Gene Review: Megalencephalic Leukoencephalopathy with Subcortical Cysts - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts - Genetic Testing Registry: ... | megalencephalic leukoencephalopathy with subcortical cysts |
What is (are) nephronophthisis ? | Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected in... | nephronophthisis |
How many people are affected by nephronophthisis ? | Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in 922,000 in the United States. Its incidence in other populations is unknown. Nephronophthisis is the most common genetic cause of ESRD in children and young adults. | nephronophthisis |
What are the genetic changes related to nephronophthisis ? | Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis, results from changes affecting the NPHP1 gene. The proteins produced from NPHP1 and the other genes i... | nephronophthisis |
Is nephronophthisis 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. | nephronophthisis |
What are the treatments for nephronophthisis ? | These resources address the diagnosis or management of nephronophthisis: - Genetic Testing Registry: Adolescent nephronophthisis - Genetic Testing Registry: Infantile nephronophthisis - Genetic Testing Registry: Nephronophthisis - Genetic Testing Registry: Nephronophthisis 1 - Genetic Testing Registry: Nephronopht... | nephronophthisis |
What is (are) multiple sclerosis ? | Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is con... | multiple sclerosis |
How many people are affected by multiple sclerosis ? | An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. Although the reason is unclear, this condition is more common in regions that are farther away from the equator. In Canada, parts of the northern United States, western and northern Europe, Russia, and southeastern Australia, the condition affect... | multiple sclerosis |
What are the genetic changes related to multiple sclerosis ? | Although the cause of multiple sclerosis is unknown, variations in dozens of genes are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosi... | multiple sclerosis |
Is multiple sclerosis inherited ? | The inheritance pattern of multiple sclerosis is unknown, although the condition does appear to be passed down through generations in families. The risk of developing multiple sclerosis is higher for siblings or children of a person with the condition than for the general population. | multiple sclerosis |
What are the treatments for multiple sclerosis ? | These resources address the diagnosis or management of multiple sclerosis: - Gene Review: Gene Review: Multiple Sclerosis Overview - Multiple Sclerosis Association of America: Treatments for MS - Multiple Sclerosis International Federation: About MS--Diagnosis - National Multiple Sclerosis Society: Diagnosing Tools... | multiple sclerosis |
What is (are) Stevens-Johnson syndrome/toxic epidermal necrolysis ? | Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome repr... | Stevens-Johnson syndrome/toxic epidermal necrolysis |
How many people are affected by Stevens-Johnson syndrome/toxic epidermal necrolysis ? | SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. Stevens-Johnson syndrome (the less severe form of the condition) is more common than toxic epidermal necrolysis. People who are HIV-positive and those with a chronic inflammatory disease called systemic lupus erythematosus are more likely to dev... | Stevens-Johnson syndrome/toxic epidermal necrolysis |
What are the genetic changes related to Stevens-Johnson syndrome/toxic epidermal necrolysis ? | Several genetic changes have been found to increase the risk of SJS/TEN in response to triggering factors such as medications. Most of these changes occur in genes that are involved in the normal function of the immune system. The genetic variations most strongly associated with SJS/TEN occur in the HLA-B gene. This g... | Stevens-Johnson syndrome/toxic epidermal necrolysis |
Is Stevens-Johnson syndrome/toxic epidermal necrolysis inherited ? | SJS/TEN is not an inherited condition. However, the genetic changes that increase the risk of developing SJS/TEN can be passed from one generation to the next. | Stevens-Johnson syndrome/toxic epidermal necrolysis |
What are the treatments for Stevens-Johnson syndrome/toxic epidermal necrolysis ? | These resources address the diagnosis or management of Stevens-Johnson syndrome/toxic epidermal necrolysis: - Genetic Testing Registry: Stevens-Johnson syndrome - Genetic Testing Registry: Toxic epidermal necrolysis These resources from MedlinePlus offer information about the diagnosis and management of various hea... | Stevens-Johnson syndrome/toxic epidermal necrolysis |
What is (are) neurofibromatosis type 2 ? | Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to th... | neurofibromatosis type 2 |
How many people are affected by neurofibromatosis type 2 ? | Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people worldwide. | neurofibromatosis type 2 |
What are the genetic changes related to neurofibromatosis type 2 ? | Mutations in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells (neurons) in the brain and spinal cord. Merl... | neurofibromatosis type 2 |
Is neurofibromatosis type 2 inherited ? | Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2 gen... | neurofibromatosis type 2 |
What are the treatments for neurofibromatosis type 2 ? | These resources address the diagnosis or management of neurofibromatosis type 2: - Boston Children's Hospital - Gene Review: Gene Review: Neurofibromatosis 2 - Genetic Testing Registry: Neurofibromatosis, type 2 - MedlinePlus Encyclopedia: Acoustic Neuroma - MedlinePlus Encyclopedia: Neurofibromatosis 2 - Neurofi... | neurofibromatosis type 2 |
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