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What is (are) androgen insensitivity syndrome ? | Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may h... | androgen insensitivity syndrome |
How many people are affected by androgen insensitivity syndrome ? | Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people who are genetically male. Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. Mild androgen insensitivity is much less common. | androgen insensitivity syndrome |
What are the genetic changes related to androgen insensitivity syndrome ? | Mutations in the AR gene cause androgen insensitivity syndrome. This gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. Androgens and androgen receptors also h... | androgen insensitivity syndrome |
Is androgen insensitivity syndrome 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 each cell. In genetic males (who have only one X chromosome), one altered copy of the gene in each cell is suffi... | androgen insensitivity syndrome |
What are the treatments for androgen insensitivity syndrome ? | These resources address the diagnosis or management of androgen insensitivity syndrome: - Gene Review: Gene Review: Androgen Insensitivity Syndrome - Genetic Testing Registry: Androgen resistance syndrome - MedlinePlus Encyclopedia: Androgen Insensitivity Syndrome - MedlinePlus Encyclopedia: Intersex - MedlinePlus... | androgen insensitivity syndrome |
What is (are) congenital bilateral absence of the vas deferens ? | Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with t... | congenital bilateral absence of the vas deferens |
How many people are affected by congenital bilateral absence of the vas deferens ? | This condition is responsible for 1 percent to 2 percent of all infertility in men. | congenital bilateral absence of the vas deferens |
What are the genetic changes related to congenital bilateral absence of the vas deferens ? | Mutations in the CFTR gene cause congenital bilateral absence of the vas deferens. More than half of all men with this condition have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When congenital bilateral absence of the vas deferens occurs with CFTR mutations, it is considered a form ... | congenital bilateral absence of the vas deferens |
Is congenital bilateral absence of the vas deferens inherited ? | When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Men with this condition who choose to father children through assisted reproduction have an increased risk of havin... | congenital bilateral absence of the vas deferens |
What are the treatments for congenital bilateral absence of the vas deferens ? | These resources address the diagnosis or management of congenital bilateral absence of the vas deferens: - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Congenital bilateral absence of the vas deferens - MedlinePlus Encyclopedia: Infertility - MedlinePlus Encyclopedia: Pathway of sper... | congenital bilateral absence of the vas deferens |
What is (are) Leber hereditary optic neuropathy ? | Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. Blurring and clouding of vision are... | Leber hereditary optic neuropathy |
How many people are affected by Leber hereditary optic neuropathy ? | The prevalence of LHON in most populations is unknown. It affects 1 in 30,000 to 50,000 people in northeast England and Finland. | Leber hereditary optic neuropathy |
What are the genetic changes related to Leber hereditary optic neuropathy ? | Mutations in the MT-ND1, MT-ND4, MT-ND4L, or MT-ND6 gene can cause LHON. These genes are found in the DNA of cellular structures called mitochondria, which 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 amount ... | Leber hereditary optic neuropathy |
Is Leber hereditary optic neuropathy inherited ? | LHON has a mitochondrial pattern of inheritance, 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 mutations from... | Leber hereditary optic neuropathy |
What are the treatments for Leber hereditary optic neuropathy ? | These resources address the diagnosis or management of Leber hereditary optic neuropathy: - Gene Review: Gene Review: Leber Hereditary Optic Neuropathy - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Leber's optic atrophy - MedlinePlus Encyclopedia: Blindness - MedlinePlus ... | Leber hereditary optic neuropathy |
What is (are) Netherton syndrome ? | Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This mem... | Netherton syndrome |
How many people are affected by Netherton syndrome ? | Netherton syndrome is estimated to affect 1 in 200,000 newborns. | Netherton syndrome |
What are the genetic changes related to Netherton syndrome ? | Netherton syndrome is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is found in the ski... | Netherton syndrome |
Is Netherton 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. | Netherton syndrome |
What are the treatments for Netherton syndrome ? | These resources address the diagnosis or management of Netherton syndrome: - Genetic Testing Registry: Netherton syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co... | Netherton syndrome |
What is (are) Down syndrome ? | Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. People with Down syndrome may hav... | Down syndrome |
How many people are affected by Down syndrome ? | Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and an estimated 250,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as... | Down syndrome |
What are the genetic changes related to Down syndrome ? | Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs ... | Down syndrome |
Is Down syndrome inherited ? | Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called... | Down syndrome |
What are the treatments for Down syndrome ? | These resources address the diagnosis or management of Down syndrome: - GeneFacts: Down Syndrome: Diagnosis - GeneFacts: Down Syndrome: Management - Genetic Testing Registry: Complete trisomy 21 syndrome - National Down Syndrome Congress: Health Care - National Down Syndrome Congress: Speech and Language - Nation... | Down syndrome |
What is (are) paroxysmal nocturnal hemoglobinuria ? | Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infection; and platelets (thrombocytes), which are in... | paroxysmal nocturnal hemoglobinuria |
How many people are affected by paroxysmal nocturnal hemoglobinuria ? | Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect between 1 and 5 per million people. | paroxysmal nocturnal hemoglobinuria |
What are the genetic changes related to paroxysmal nocturnal hemoglobinuria ? | Mutations in the PIGA gene cause paroxysmal nocturnal hemoglobinuria. The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. This protein takes part in a series of steps that produce a molecule called GPI anchor. GPI anchor attaches many different proteins to the cell memb... | paroxysmal nocturnal hemoglobinuria |
Is paroxysmal nocturnal hemoglobinuria inherited ? | This condition is acquired, rather than inherited. It results from new mutations in the PIGA gene, and generally occurs in people with no previous history of the disorder in their family. The condition is not passed down to children of affected individuals. | paroxysmal nocturnal hemoglobinuria |
What are the treatments for paroxysmal nocturnal hemoglobinuria ? | These resources address the diagnosis or management of paroxysmal nocturnal hemoglobinuria: - Duke University School of Medicine: Hemostasis & Thrombosis Center - Genetic Testing Registry: Paroxysmal nocturnal hemoglobinuria - MedlinePlus Encyclopedia: Paroxysmal nocturnal hemoglobinuria (PNH) - Memorial Sloan-Kett... | paroxysmal nocturnal hemoglobinuria |
What is (are) congenital mirror movement disorder ? | Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder prim... | congenital mirror movement disorder |
How many people are affected by congenital mirror movement disorder ? | Congenital mirror movement disorder is a very rare disorder. Its prevalence is thought to be less than 1 in 1 million. Researchers suggest that some mildly affected individuals may never be diagnosed. | congenital mirror movement disorder |
What are the genetic changes related to congenital mirror movement disorder ? | Congenital mirror movement disorder can be caused by mutations in the DCC or RAD51 gene; mutations in these genes account for a total of about 35 percent of cases. Mutations in other genes that have not been identified likely account for other cases of this disorder. The DCC gene provides instructions for making a pro... | congenital mirror movement disorder |
Is congenital mirror movement disorder inherited ? | In most cases, including those caused by mutations in the DCC or RAD51 gene, 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 altered gene. Some people who ha... | congenital mirror movement disorder |
What are the treatments for congenital mirror movement disorder ? | These resources address the diagnosis or management of congenital mirror movement disorder: - Gene Review: Gene Review: Congenital Mirror Movements - Genetic Testing Registry: Mirror movements 2 - Genetic Testing Registry: Mirror movements, congenital - KidsHealth: Occupational Therapy These resources from Medlin... | congenital mirror movement disorder |
What is (are) Knobloch syndrome ? | Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal d... | Knobloch syndrome |
How many people are affected by Knobloch syndrome ? | Knobloch syndrome is a rare condition. However, the exact prevalence of the condition is unknown. | Knobloch syndrome |
What are the genetic changes related to Knobloch syndrome ? | Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII, which is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues. ... | Knobloch syndrome |
Is Knobloch 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. | Knobloch syndrome |
What are the treatments for Knobloch syndrome ? | These resources address the diagnosis or management of Knobloch syndrome: - American Academy of Ophthalmology: Eye Smart - Genetic Testing Registry: Knobloch syndrome 1 - JAMA Patient Page: Retinal Detachment - National Eye Institute: Facts About Retinal Detachment - Prevent Blindness America: Retinal Tears and De... | Knobloch syndrome |
What is (are) potassium-aggravated myotonia ? | Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that worsens afte... | potassium-aggravated myotonia |
How many people are affected by potassium-aggravated myotonia ? | This condition appears to be rare; it has been reported in only a few individuals and families worldwide. | potassium-aggravated myotonia |
What are the genetic changes related to potassium-aggravated myotonia ? | Mutations in the SCN4A gene cause potassium-aggravated myotonia. The SCN4A gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are tri... | potassium-aggravated myotonia |
Is potassium-aggravated myotonia inherited ? | Potassium-aggravated myotonia 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 some cases, an affected person inherits a mutation in the SCN4A gene from one affected parent. Other cases result from new mutations in the gene. The... | potassium-aggravated myotonia |
What are the treatments for potassium-aggravated myotonia ? | These resources address the diagnosis or management of potassium-aggravated myotonia: - Genetic Testing Registry: Potassium aggravated myotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabi... | potassium-aggravated myotonia |
What is (are) maternally inherited diabetes and deafness ? | Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood... | maternally inherited diabetes and deafness |
How many people are affected by maternally inherited diabetes and deafness ? | About 1 percent of people with diabetes have MIDD. The condition is most common in the Japanese population and has been found in populations worldwide. | maternally inherited diabetes and deafness |
What are the genetic changes related to maternally inherited diabetes and deafness ? | Mutations in the MT-TL1, MT-TK, or MT-TE gene cause MIDD. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDN... | maternally inherited diabetes and deafness |
Is maternally inherited diabetes and deafness inherited ? | MIDD 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 mutations from th... | maternally inherited diabetes and deafness |
What are the treatments for maternally inherited diabetes and deafness ? | These resources address the diagnosis or management of MIDD: - Genetic Testing Registry: Diabetes-deafness syndrome maternally transmitted These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitat... | maternally inherited diabetes and deafness |
What is (are) Krabbe disease ? | Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells... | Krabbe disease |
How many people are affected by Krabbe disease ? | In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel. | Krabbe disease |
What are the genetic changes related to Krabbe disease ? | Mutations in the GALC gene cause Krabbe disease. These mutations cause a deficiency of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of myelin that covers many nerves. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and sympto... | Krabbe disease |
Is Krabbe 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. | Krabbe disease |
What are the treatments for Krabbe disease ? | These resources address the diagnosis or management of Krabbe disease: - Baby's First Test - Gene Review: Gene Review: Krabbe Disease - Genetic Testing Registry: Galactosylceramide beta-galactosidase deficiency - MedlinePlus Encyclopedia: Krabbe disease These resources from MedlinePlus offer information about the... | Krabbe disease |
What is (are) Simpson-Golabi-Behmel syndrome ? | Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. Th... | Simpson-Golabi-Behmel syndrome |
How many people are affected by Simpson-Golabi-Behmel syndrome ? | The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 130 people worldwide have been diagnosed with this disorder. | Simpson-Golabi-Behmel syndrome |
What are the genetic changes related to Simpson-Golabi-Behmel syndrome ? | Mutations in the GPC3 gene are responsible for some cases of Simpson-Golabi-Behmel syndrome. This gene provides instructions for making a protein called glypican 3, which is involved in the regulation of cell growth and division (cell proliferation). Researchers believe that the GPC3 protein can also cause certain cell... | Simpson-Golabi-Behmel syndrome |
Is Simpson-Golabi-Behmel syndrome inherited ? | This condition is inherited in an X-linked 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 each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the... | Simpson-Golabi-Behmel syndrome |
What are the treatments for Simpson-Golabi-Behmel syndrome ? | These resources address the diagnosis or management of Simpson-Golabi-Behmel syndrome: - Gene Review: Gene Review: Simpson-Golabi-Behmel Syndrome Type 1 - Genetic Testing Registry: Simpson-Golabi-Behmel syndrome - MedlinePlus Encyclopedia: Diastasis Recti - MedlinePlus Encyclopedia: Macrosomia These resources fro... | Simpson-Golabi-Behmel syndrome |
What is (are) surfactant dysfunction ? | Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surro... | surfactant dysfunction |
How many people are affected by surfactant dysfunction ? | One type of surfactant dysfunction, SP-B deficiency, is estimated to occur in 1 in 1 million newborns worldwide. The prevalence of surfactant dysfunction due to other causes is unknown. | surfactant dysfunction |
What are the genetic changes related to surfactant dysfunction ? | Surfactant dysfunction is caused by mutations in one of several genes, including SFTPB, SFTPC, and ABCA3. Each of these genes is involved in the production of surfactant. The production and release of surfactant is a complex process. The phospholipids and proteins that make up surfactant are packaged in cellular struct... | surfactant dysfunction |
Is surfactant dysfunction inherited ? | Surfactant dysfunction can have different inheritance patterns depending on its genetic cause. When caused by mutations in the SFTPB or ABCA3 gene, 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 autoso... | surfactant dysfunction |
What are the treatments for surfactant dysfunction ? | These resources address the diagnosis or management of surfactant dysfunction: - Children's Interstitial and Diffuse Lung Disease (chILD) Foundation: Surfactant Deficiency - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmonary, 1 - Genetic Testing Registry: Surfactant metabolism dysfunction, pulmon... | surfactant dysfunction |
What is (are) C3 glomerulopathy ? | C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the bod... | C3 glomerulopathy |
How many people are affected by C3 glomerulopathy ? | C3 glomerulopathy is very rare, affecting 1 to 2 per million people worldwide. It is equally common in men and women. | C3 glomerulopathy |
What are the genetic changes related to C3 glomerulopathy ? | C3 glomerulopathy is associated with changes in many genes. Most of these genes provide instructions for making proteins that help regulate a part of the body's immune response known as the complement system. This system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses... | C3 glomerulopathy |
Is C3 glomerulopathy inherited ? | Most cases of C3 glomerulopathy are sporadic, which means they occur in people with no history of the disorder in their family. Only a few reported families have had more than one family member with C3 glomerulopathy. However, many affected people have had close relatives with autoimmune diseases, which occur when the ... | C3 glomerulopathy |
What are the treatments for C3 glomerulopathy ? | These resources address the diagnosis or management of C3 glomerulopathy: - Gene Review: Gene Review: Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: C3 Glomerulonephritis - Genetic Testing Registry: CFHR5 deficiency - Genetic Testing Registry: CFHR5-Related Dens... | C3 glomerulopathy |
What is (are) sepiapterin reductase deficiency ? | Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking m... | sepiapterin reductase deficiency |
How many people are affected by sepiapterin reductase deficiency ? | Sepiapterin reductase deficiency appears to be a rare condition. At least 30 cases have been described in the scientific literature. | sepiapterin reductase deficiency |
What are the genetic changes related to sepiapterin reductase deficiency ? | Mutations in the SPR gene cause sepiapterin reductase deficiency. The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the production of a molecule called tetrahydrobiopterin (also known as BH4). Specifically, sepiapterin reductase is responsible for the last step i... | sepiapterin reductase deficiency |
Is sepiapterin reductase 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. | sepiapterin reductase deficiency |
What are the treatments for sepiapterin reductase deficiency ? | These resources address the diagnosis or management of sepiapterin reductase deficiency: - Gene Review: Gene Review: Sepiapterin Reductase Deficiency - Genetic Testing Registry: Sepiapterin reductase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health c... | sepiapterin reductase deficiency |
What is (are) familial adenomatous polyposis ? | Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the co... | familial adenomatous polyposis |
How many people are affected by familial adenomatous polyposis ? | The reported incidence of familial adenomatous polyposis varies from 1 in 7,000 to 1 in 22,000 individuals. | familial adenomatous polyposis |
What are the genetic changes related to familial adenomatous polyposis ? | Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. Although most peop... | familial adenomatous polyposis |
Is familial adenomatous polyposis inherited ? | Familial adenomatous polyposis can have different inheritance patterns. When familial adenomatous polyposis results from mutations in the APC gene, it 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 per... | familial adenomatous polyposis |
What are the treatments for familial adenomatous polyposis ? | These resources address the diagnosis or management of familial adenomatous polyposis: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Review: Gene Review: APC-Associated Polyposis Con... | familial adenomatous polyposis |
What is (are) Lesch-Nyhan syndrome ? | Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood an... | Lesch-Nyhan syndrome |
How many people are affected by Lesch-Nyhan syndrome ? | The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations. | Lesch-Nyhan syndrome |
What are the genetic changes related to Lesch-Nyhan syndrome ? | Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. The HPRT1 gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. Recycling purines ensures that cells have a pl... | Lesch-Nyhan syndrome |
Is Lesch-Nyhan 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... | Lesch-Nyhan syndrome |
What are the treatments for Lesch-Nyhan syndrome ? | These resources address the diagnosis or management of Lesch-Nyhan syndrome: - Gene Review: Gene Review: Lesch-Nyhan Syndrome - Genetic Testing Registry: Lesch-Nyhan syndrome - MedlinePlus Encyclopedia: Lesch-Nyhan Syndrome - MedlinePlus Encyclopedia: Uric Acid Crystals These resources from MedlinePlus offer info... | Lesch-Nyhan syndrome |
What is (are) Warsaw breakage syndrome ? | Warsaw breakage syndrome is a condition that can cause multiple abnormalities. People with Warsaw breakage syndrome have intellectual disability that varies from mild to severe. They also have impaired growth from birth leading to short stature and a small head size (microcephaly). Affected individuals have distinctive... | Warsaw breakage syndrome |
How many people are affected by Warsaw breakage syndrome ? | Warsaw breakage syndrome is a rare condition; at least four cases have been described in the medical literature. | Warsaw breakage syndrome |
What are the genetic changes related to Warsaw breakage syndrome ? | Mutations in the DDX11 gene cause Warsaw breakage syndrome. The DDX11 gene provides instructions for making an enzyme called ChlR1. This enzyme functions as a helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is nec... | Warsaw breakage syndrome |
Is Warsaw breakage 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. | Warsaw breakage syndrome |
What are the treatments for Warsaw breakage syndrome ? | These resources address the diagnosis or management of Warsaw breakage syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children - Genetic Testing Registry: Warsaw breakage syndrome - MedlinePlus Encyclopedia: Hearing Loss--Infants These resources from MedlinePlus offer information about the... | Warsaw breakage syndrome |
What is (are) autosomal recessive hyper-IgE syndrome ? | Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune system. A hallmark feature of the condition is recurrent infections that are severe and can be life-threatening. Skin infections can be caused by bacteria, viruses, or fungi. These infections cause rashes, blisters, accumulations of pus (absce... | autosomal recessive hyper-IgE syndrome |
How many people are affected by autosomal recessive hyper-IgE syndrome ? | AR-HIES is a rare disorder whose prevalence is unknown. | autosomal recessive hyper-IgE syndrome |
What are the genetic changes related to autosomal recessive hyper-IgE syndrome ? | AR-HIES is usually caused by mutations in the DOCK8 gene. The protein produced from this gene plays a critical role in the survival and function of several types of immune system cells. One of the protein's functions is to help maintain the structure and integrity of immune cells called T cells and NK cells, which reco... | autosomal recessive hyper-IgE syndrome |
Is autosomal recessive hyper-IgE 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. | autosomal recessive hyper-IgE syndrome |
What are the treatments for autosomal recessive hyper-IgE syndrome ? | These resources address the diagnosis or management of autosomal recessive hyper-IgE syndrome: - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperimmunoglobulin E Syndrome - Merck Manual Professional Version: Hyperimmunoglobulin E Syndrome - PID UK: Hyperimmunoglobulin E Syn... | autosomal recessive hyper-IgE syndrome |
What is (are) giant congenital melanocytic nevus ? | Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow... | giant congenital melanocytic nevus |
How many people are affected by giant congenital melanocytic nevus ? | Giant congenital melanocytic nevus occurs in approximately 1 in 20,000 newborns worldwide. | giant congenital melanocytic nevus |
What are the genetic changes related to giant congenital melanocytic nevus ? | NRAS gene mutations cause most cases of giant congenital melanocytic nevus. Rarely, mutations in the BRAF gene are responsible for this condition. The proteins produced from these genes are involved in a process known as signal transduction by which signals are relayed from outside the cell to the cell's nucleus. Sign... | giant congenital melanocytic nevus |
Is giant congenital melanocytic nevus inherited ? | This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. A somatic mutation in one copy of the NRAS or BRAF gene is sufficient to cause this disorder. | giant congenital melanocytic nevus |
What are the treatments for giant congenital melanocytic nevus ? | These resources address the diagnosis or management of giant congenital melanocytic nevus: - Cleveland Clinic: The Facts About Melanoma - Genetic Testing Registry: Giant pigmented hairy nevus - MedlinePlus Encyclopedia: Giant Congenital Nevus - Nevus Outreach: Treatment Options - Primary Care Dermatology Society ... | giant congenital melanocytic nevus |
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