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genetic changes | What are the genetic changes related to Klinefelter syndrome ? | Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People typically have two sex chromosomes in each cell: females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, Klinefelter syndrome results from the presence of one extra copy of... |
inheritance | Is Klinefelter syndrome inherited ? | Klinefelter syndrome and its variants are not inherited; these chromosomal changes usually occur as random events during the formation of reproductive cells (eggs and sperm) in a parent. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, a... |
treatment | What are the treatments for Klinefelter syndrome ? | These resources address the diagnosis or management of Klinefelter syndrome: - Genetic Testing Registry: Klinefelter's syndrome, XXY - MedlinePlus Encyclopedia: Klinefelter Syndrome - MedlinePlus Encyclopedia: Testicular Failure These resources from MedlinePlus offer information about the diagnosis and management ... |
information | What is (are) Majeed syndrome ? | Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin. One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of pain and joint ... |
frequency | How many people are affected by Majeed syndrome ? | Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East. |
genetic changes | What are the genetic changes related to Majeed syndrome ? | Majeed syndrome results from mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin-2 also may be inv... |
inheritance | Is Majeed syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some pa... |
treatment | What are the treatments for Majeed syndrome ? | These resources address the diagnosis or management of Majeed syndrome: - Gene Review: Gene Review: Majeed Syndrome - Genetic Testing Registry: Majeed syndrome - MedlinePlus Encyclopedia: Osteomyelitis - MedlinePlus Encyclopedia: Psoriasis These resources from MedlinePlus offer information about the diagnosis and... |
information | What is (are) L1 syndrome ? | L1 syndrome is an inherited disorder that primarily affects the nervous system. L1 syndrome involves a variety of features that were once thought to be distinct disorders, but are now considered to be part of the same syndrome. The most common characteristics of L1 syndrome are muscle stiffness (spasticity) of the lowe... |
frequency | How many people are affected by L1 syndrome ? | L1 syndrome is estimated to occur in 1 in 25,000 to 60,000 males. Females are rarely affected by this condition. |
genetic changes | What are the genetic changes related to L1 syndrome ? | L1 syndrome is caused by mutations in the L1CAM gene. The L1CAM gene provides instructions for producing the L1 protein, which is found throughout the nervous system on the surface of nerve cells (neurons). The L1 protein plays a role in the development and organization of neurons, the formation of the protective sheat... |
inheritance | Is L1 syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition 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 sufficient to cause the condition. In females (who have t... |
treatment | What are the treatments for L1 syndrome ? | These resources address the diagnosis or management of L1 syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: L1 Syndrome - Genetic Testing Registry: Corpus callosum, partial agenesis of, X-linked - Genetic Testing Registry: L1 Syndrome - Genetic Testing Registr... |
information | What is (are) Christianson syndrome ? | Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. Individ... |
frequency | How many people are affected by Christianson syndrome ? | Christianson syndrome is a rare condition, although the exact prevalence is unknown. The condition was first described in a South African family and has since been found people in other parts of the world. |
genetic changes | What are the genetic changes related to Christianson syndrome ? | Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in the membrane surrounding endosomes, which are compartments within cells that recycle proteins and other material... |
inheritance | Is Christianson syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition 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 sufficient to cause the condition. In females (who have t... |
treatment | What are the treatments for Christianson syndrome ? | These resources address the diagnosis or management of Christianson syndrome: - Genetic Testing Registry: Christianson syndrome - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy... |
information | 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. ... |
frequency | 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. |
genetic changes | 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 ... |
inheritance | 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. |
treatment | 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 ... |
information | What is (are) Townes-Brocks Syndrome ? | Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two o... |
frequency | How many people are affected by Townes-Brocks Syndrome ? | The prevalence of this condition is unknown, although one study estimated that it may affect 1 in 250,000 people. It is difficult to determine how frequently Townes-Brocks syndrome occurs because the varied signs and symptoms of this disorder overlap with those of other genetic syndromes. |
genetic changes | What are the genetic changes related to Townes-Brocks Syndrome ? | Mutations in the SALL1 gene cause Townes-Brocks Syndrome. The SALL1 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bi... |
inheritance | Is Townes-Brocks Syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Townes-Brocks Syndrome ? | These resources address the diagnosis or management of Townes-Brocks Syndrome: - Gene Review: Gene Review: Townes-Brocks Syndrome - Genetic Testing Registry: Townes syndrome - MedlinePlus Encyclopedia: Ear Disorders (image) - MedlinePlus Encyclopedia: Imperforate Anus These resources from MedlinePlus offer inform... |
information | What is (are) glycogen storage disease type IV ? | Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, whi... |
frequency | How many people are affected by glycogen storage disease type IV ? | GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen storage disease. |
genetic changes | What are the genetic changes related to glycogen storage disease type IV ? | Mutations in the GBE1 gene cause GSD IV. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of glycogen, which is a major source of stored energy in the body. GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branch... |
inheritance | Is glycogen storage disease 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. |
treatment | What are the treatments for glycogen storage disease type IV ? | These resources address the diagnosis or management of glycogen storage disease type IV: - Gene Review: Gene Review: Glycogen Storage Disease Type IV - Genetic Testing Registry: Glycogen storage disease, type IV - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Failure to Thrive These... |
information | What is (are) color vision deficiency ? | Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency. Affected individuals have trouble distinguishing between some shades of red, yellow, and green. Blue-yellow... |
frequency | How many people are affected by color vision deficiency ? | Red-green color vision defects are the most common form of color vision deficiency. This condition affects males much more often than females. Among populations with Northern European ancestry, it occurs in about 1 in 12 males and 1 in 200 females. Red-green color vision defects have a lower incidence in almost all oth... |
genetic changes | What are the genetic changes related to color vision deficiency ? | Mutations in the OPN1LW, OPN1MW, and OPN1SW genes cause the forms of color vision deficiency described above. The proteins produced from these genes play essential roles in color vision. They are found in the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light rece... |
inheritance | Is color vision deficiency inherited ? | Red-green color vision defects and blue cone monochromacy are inherited in an X-linked recessive pattern. The OPN1LW and OPN1MW genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one genetic change in each cell is sufficient to cause the condition.... |
treatment | What are the treatments for color vision deficiency ? | These resources address the diagnosis or management of color vision deficiency: - Gene Review: Gene Review: Red-Green Color Vision Defects - Genetic Testing Registry: Colorblindness, partial, deutan series - Genetic Testing Registry: Cone monochromatism - Genetic Testing Registry: Protan defect - Genetic Testing R... |
information | What is (are) X-linked creatine deficiency ? | X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or ... |
frequency | How many people are affected by X-linked creatine deficiency ? | The prevalence of X-linked creatine deficiency is unknown. More than 150 affected individuals have been identified. The disorder has been estimated to account for between 1 and 2 percent of males with intellectual disability. |
genetic changes | What are the genetic changes related to X-linked creatine deficiency ? | Mutations in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 gene provides instructions for making a protein that transports the compound creatine into cells. Creatine is needed for the body to store and use energy properly. SLC6A8 gene mutations impair the ability of the transporter protein to bring cr... |
inheritance | Is X-linked creatine deficiency inherited ? | This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have... |
treatment | What are the treatments for X-linked creatine deficiency ? | These resources address the diagnosis or management of X-linked creatine deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Creatine deficiency, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... |
information | 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... |
frequency | 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. |
genetic changes | 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 ... |
inheritance | 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... |
treatment | 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 -... |
information | What is (are) Hutchinson-Gilford progeria syndrome ? | Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive... |
frequency | How many people are affected by Hutchinson-Gilford progeria syndrome ? | This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886. |
genetic changes | What are the genetic changes related to Hutchinson-Gilford progeria syndrome ? | Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which... |
inheritance | Is Hutchinson-Gilford progeria syndrome inherited ? | Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family. |
treatment | What are the treatments for Hutchinson-Gilford progeria syndrome ? | These resources address the diagnosis or management of Hutchinson-Gilford progeria syndrome: - Gene Review: Gene Review: Hutchinson-Gilford Progeria Syndrome - Genetic Testing Registry: Hutchinson-Gilford syndrome - MedlinePlus Encyclopedia: Progeria These resources from MedlinePlus offer information about the dia... |
information | What is (are) lattice corneal dystrophy type I ? | Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairme... |
frequency | How many people are affected by lattice corneal dystrophy type I ? | Lattice corneal dystrophy type I is one of the most common disorders in a group of conditions that are characterized by protein deposits in the cornea (corneal dystrophies); however, it is still a rare condition. The prevalence of lattice corneal dystrophy type I is unknown. |
genetic changes | What are the genetic changes related to lattice corneal dystrophy type I ? | Lattice corneal dystrophy type I is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the cornea. The TGFBI protein is part of the extracellular matrix, an intricate network that forms in the spaces between cells and ... |
inheritance | Is lattice corneal dystrophy type I inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. |
treatment | What are the treatments for lattice corneal dystrophy type I ? | These resources address the diagnosis or management of lattice corneal dystrophy type I: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Lattice corneal dystrophy Type I - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources fr... |
information | What is (are) Emanuel syndrome ? | Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individ... |
frequency | How many people are affected by Emanuel syndrome ? | Emanuel syndrome is a rare disorder; its prevalence is unknown. More than 100 individuals with this condition have been reported. |
genetic changes | What are the genetic changes related to Emanuel syndrome ? | Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra ch... |
inheritance | Is Emanuel syndrome inherited ? | Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not ca... |
treatment | What are the treatments for Emanuel syndrome ? | These resources address the diagnosis or management of Emanuel syndrome: - Gene Review: Gene Review: Emanuel Syndrome - Genetic Testing Registry: Emanuel syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Microcephaly - MedlinePlus Encyclopedia: Preauricular Tag or Pit These re... |
information | What is (are) congenital neuronal ceroid lipofuscinosis ? | Congenital neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Soon after birth, affected infants develop muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected ... |
frequency | How many people are affected by congenital neuronal ceroid lipofuscinosis ? | Congenital NCL is the rarest type of NCL; approximately 10 cases have been described. |
genetic changes | What are the genetic changes related to congenital neuronal ceroid lipofuscinosis ? | Mutations in the CTSD gene cause congenital NCL. The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act as proteases, which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and is active in lysosomes, w... |
inheritance | Is congenital neuronal ceroid lipofuscinosis inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for congenital neuronal ceroid lipofuscinosis ? | These resources address the diagnosis or management of congenital neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Neuronal ceroid lipofuscinosis, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Ther... |
information | What is (are) malignant hyperthermia ? | Malignant hyperthermia is a severe reaction to particular drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a muscle relaxant that is used to temporarily paralyze a pers... |
frequency | How many people are affected by malignant hyperthermia ? | Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which people are given anesthetic gases. Susceptibility to malignant hyperthermia is probably more frequent, because many people with an increased risk of this condition are never exposed to drugs that trigger a reaction. |
genetic changes | What are the genetic changes related to malignant hyperthermia ? | Variations of the CACNA1S and RYR1 genes increase the risk of developing malignant hyperthermia. Researchers have described at least six forms of malignant hyperthermia susceptibility, which are caused by mutations in different genes. Mutations in the RYR1 gene are responsible for a form of the condition known as MHS1... |
inheritance | Is malignant hyperthermia inherited ? | Malignant hyperthermia susceptibility is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of a severe reaction to certain drugs used during surgery. In most cases, an affected person inherits the altered gene from a parent who is also a... |
treatment | What are the treatments for malignant hyperthermia ? | These resources address the diagnosis or management of malignant hyperthermia: - Gene Review: Gene Review: Malignant Hyperthermia Susceptibility - Genetic Testing Registry: Malignant hyperthermia susceptibility type 1 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 2 - Genetic Testing Registr... |
information | What is (are) small fiber neuropathy ? | Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, o... |
frequency | How many people are affected by small fiber neuropathy ? | The prevalence of small fiber neuropathy is unknown. |
genetic changes | What are the genetic changes related to small fiber neuropathy ? | Mutations in the SCN9A or SCN10A gene can cause small fiber neuropathy. These genes provide instructions for making pieces (the alpha subunits) of sodium channels. The SCN9A gene instructs the production of the alpha subunit for the NaV1.7 sodium channel and the SCN10A gene instructs the production of the alpha subunit... |
inheritance | Is small fiber neuropathy inherited ? | Small fiber neuropathy is inherited in an autosomal dominant pattern, which means one copy of the altered SCN9A gene or SCN10A gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and oc... |
treatment | What are the treatments for small fiber neuropathy ? | These resources address the diagnosis or management of small fiber neuropathy: - Genetic Testing Registry: Small fiber neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Ge... |
information | What is (are) hypermethioninemia ? | Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body. People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia e... |
frequency | How many people are affected by hypermethioninemia ? | Primary hypermethioninemia that is not caused by other disorders or excess methionine intake appears to be rare; only a small number of cases have been reported. The actual incidence is difficult to determine, however, since many individuals with hypermethioninemia have no symptoms. |
genetic changes | What are the genetic changes related to hypermethioninemia ? | Mutations in the AHCY, GNMT, and MAT1A genes cause hypermethioninemia. Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages (deficiencies) in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions in... |
inheritance | Is hypermethioninemia inherited ? | Hypermethioninemia can have different inheritance patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... |
treatment | What are the treatments for hypermethioninemia ? | These resources address the diagnosis or management of hypermethioninemia: - Baby's First Test - Genetic Testing Registry: Glycine N-methyltransferase deficiency - Genetic Testing Registry: Hepatic methionine adenosyltransferase deficiency - Genetic Testing Registry: Hypermethioninemia with s-adenosylhomocysteine h... |
information | What is (are) chylomicron retention disease ? | Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necess... |
frequency | How many people are affected by chylomicron retention disease ? | Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide. |
genetic changes | What are the genetic changes related to chylomicron retention disease ? | Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein that is involved in transporting chylomicrons within enterocytes, which are cells that line the intestine and absorb nutrients. SAR1B gene mutations impair the release of chylomicrons into the blo... |
inheritance | Is chylomicron retention disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for chylomicron retention disease ? | These resources address the diagnosis or management of chylomicron retention disease: - Genetic Testing Registry: Chylomicron retention disease - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic ... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) renal tubular dysgenesis ? | Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everyth... |
frequency | How many people are affected by renal tubular dysgenesis ? | Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown. |
genetic changes | What are the genetic changes related to renal tubular dysgenesis ? | Mutations in the ACE, AGT, AGTR1, or REN gene can cause renal tubular dysgenesis. These genes are involved in the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body and plays a role in kidney development before birth. The renin-angiotensin system consists of severa... |
inheritance | Is renal tubular dysgenesis inherited ? | Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected 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 conditio... |
treatment | What are the treatments for renal tubular dysgenesis ? | These resources address the diagnosis or management of renal tubular dysgenesis: - Genetic Testing Registry: Renal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic... |
information | What is (are) Crohn disease ? | Crohn disease is a complex, chronic disorder that primarily affects the digestive system. This condition typically involves abnormal inflammation of the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). Inflammation can occur in any part... |
frequency | How many people are affected by Crohn disease ? | Crohn disease is most common in western Europe and North America, where it affects 100 to 150 in 100,000 people. About one million Americans are currently affected by this disorder. Crohn disease occurs more often in whites and people of eastern and central European (Ashkenazi) Jewish descent than among people of other... |
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