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What is (are) phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterize... | phosphoglycerate kinase deficiency |
How many people are affected by phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 families with affected members have been reported in the scientific literature. | phosphoglycerate kinase deficiency |
What are the genetic changes related to phosphoglycerate kinase deficiency ? | Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce en... | phosphoglycerate kinase deficiency |
Is phosphoglycerate kinase deficiency inherited ? | This condition is inherited in an X-linked recessive pattern. The PGK1 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 sufficient to cause the condition. In females (who have two X chromosomes), a mutat... | phosphoglycerate kinase deficiency |
What are the treatments for phosphoglycerate kinase deficiency ? | These resources address the diagnosis or management of phosphoglycerate kinase deficiency: - Children Living with Inherited Metabolic Diseases (CLIMB) (UK): Phosphoglycerate Kinase Deficiency - Genetic Testing Registry: Deficiency of phosphoglycerate kinase - Genetic Testing Registry: Phosphoglycerate kinase 1 defic... | phosphoglycerate kinase deficiency |
What is (are) X-linked thrombocytopenia ? | X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition... | X-linked thrombocytopenia |
How many people are affected by X-linked thrombocytopenia ? | The estimated incidence of X-linked thrombocytopenia is between 1 and 10 per million males worldwide; this condition is rarer among females. | X-linked thrombocytopenia |
What are the genetic changes related to X-linked thrombocytopenia ? | Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's s... | X-linked thrombocytopenia |
Is X-linked thrombocytopenia 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... | X-linked thrombocytopenia |
What are the treatments for X-linked thrombocytopenia ? | These resources address the diagnosis or management of X-linked thrombocytopenia: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Thrombocytopenia, X-linked - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer information a... | X-linked thrombocytopenia |
What is (are) Legg-Calv-Perthes disease ? | Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. In this condition, the upper end o... | Legg-Calv-Perthes disease |
How many people are affected by Legg-Calv-Perthes disease ? | The incidence of Legg-Calv-Perthes disease varies by population. The condition is most common in white populations, in which it affects an estimated 1 to 3 in 20,000 children under age 15. | Legg-Calv-Perthes disease |
What are the genetic changes related to Legg-Calv-Perthes disease ? | Legg-Calv-Perthes disease is usually not caused by genetic factors. The cause in these cases is unknown. In a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calv-Perthes disease. The COL2A1 gene provides instructions for making a protein that forms type II co... | Legg-Calv-Perthes disease |
Is Legg-Calv-Perthes disease inherited ? | When associated with COL2A1 gene mutations, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. Most COL2A1-associated cases result from new mutations in the gene and occur in people with no history of the disord... | Legg-Calv-Perthes disease |
What are the treatments for Legg-Calv-Perthes disease ? | These resources address the diagnosis or management of Legg-Calv-Perthes disease: - National Osteonecrosis Foundation - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and R... | Legg-Calv-Perthes disease |
What is (are) homocystinuria ? | Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsig... | homocystinuria |
How many people are affected by homocystinuria ? | The most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a small number of cas... | homocystinuria |
What are the genetic changes related to homocystinuria ? | Mutations in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria. Mutations in the CBS gene cause the most common form of homocystinuria. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting ... | homocystinuria |
Is homocystinuria inherited ? | This condition is 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 do not show signs and symptoms of the condition. Although people wh... | homocystinuria |
What are the treatments for homocystinuria ? | These resources address the diagnosis or management of homocystinuria: - Baby's First Test - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Gene Review: Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - Genetic Testing Registry: Homocysteinemia due to MTHFR ... | homocystinuria |
What is (are) Baraitser-Winter syndrome ? | Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain. An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid ope... | Baraitser-Winter syndrome |
How many people are affected by Baraitser-Winter syndrome ? | Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature. | Baraitser-Winter syndrome |
What are the genetic changes related to Baraitser-Winter syndrome ? | Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the act... | Baraitser-Winter syndrome |
Is Baraitser-Winter syndrome inherited ? | This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family. | Baraitser-Winter syndrome |
What are the treatments for Baraitser-Winter syndrome ? | These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 These resources from MedlinePlus offer information about the diagnosis and management of various health ... | Baraitser-Winter syndrome |
What is (are) cri-du-chat syndrome ? | Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed develop... | cri-du-chat syndrome |
How many people are affected by cri-du-chat syndrome ? | Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds. | cri-du-chat syndrome |
What are the genetic changes related to cri-du-chat syndrome ? | Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than sm... | cri-du-chat syndrome |
Is cri-du-chat syndrome inherited ? | Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 10 percent of people with cri-du-chat syndrom... | cri-du-chat syndrome |
What are the treatments for cri-du-chat syndrome ? | These resources address the diagnosis or management of cri-du-chat syndrome: - Cri du Chat Syndrome Support Group (UK): Diagnosis - Cri du Chat Syndrome Support Group (UK): Therapies - Genetic Testing Registry: 5p partial monosomy syndrome - MedlinePlus Encyclopedia: Cri du Chat Syndrome These resources from Medl... | cri-du-chat syndrome |
What is (are) restless legs syndrome ? | Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and... | restless legs syndrome |
How many people are affected by restless legs syndrome ? | Restless legs syndrome is one of the most common sleep and movement disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent of children in the United States. For unknown reasons, the disorder affects women more often than men. The prevalence of restless legs syndrome increases with age. | restless legs syndrome |
What are the genetic changes related to restless legs syndrome ? | Restless legs syndrome likely results from a combination of genetic and environmental factors, many of which are unknown. Studies suggest that restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. Iron is involved in several critical activities in brain cells, including th... | restless legs syndrome |
Is restless legs syndrome inherited ? | The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families hav... | restless legs syndrome |
What are the treatments for restless legs syndrome ? | These resources address the diagnosis or management of restless legs syndrome: - Agency for Healthcare Research and Quality: Options for Treating Restless Legs Syndrome - Genetic Testing Registry: Restless legs syndrome, susceptibility to, 8 - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome ... | restless legs syndrome |
What is (are) ophthalmo-acromelic syndrome ? | Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected i... | ophthalmo-acromelic syndrome |
How many people are affected by ophthalmo-acromelic syndrome ? | The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature. | ophthalmo-acromelic syndrome |
What are the genetic changes related to ophthalmo-acromelic syndrome ? | Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cell... | ophthalmo-acromelic syndrome |
Is ophthalmo-acromelic 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. | ophthalmo-acromelic syndrome |
What are the treatments for ophthalmo-acromelic syndrome ? | These resources address the diagnosis or management of ophthalmo-acromelic syndrome: - Genetic Testing Registry: Anophthalmos with limb anomalies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Reha... | ophthalmo-acromelic syndrome |
What is (are) Maffucci syndrome ? | Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they m... | Maffucci syndrome |
How many people are affected by Maffucci syndrome ? | Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide. | Maffucci syndrome |
What are the genetic changes related to Maffucci syndrome ? | In most people with Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglu... | Maffucci syndrome |
Is Maffucci syndrome inherited ? | Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is t... | Maffucci syndrome |
What are the treatments for Maffucci syndrome ? | These resources address the diagnosis or management of Maffucci syndrome: - Genetic Testing Registry: Maffucci syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Coun... | Maffucci syndrome |
What is (are) Pearson marrow-pancreas syndrome ? | Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered ... | Pearson marrow-pancreas syndrome |
How many people are affected by Pearson marrow-pancreas syndrome ? | Pearson marrow-pancreas syndrome is a rare condition; its prevalence is unknown. | Pearson marrow-pancreas syndrome |
What are the genetic changes related to Pearson marrow-pancreas syndrome ? | Pearson marrow-pancreas syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondri... | Pearson marrow-pancreas syndrome |
Is Pearson marrow-pancreas syndrome inherited ? | Pearson marrow-pancreas syndrome is generally not inherited but arises from new (de novo) mutations that likely occur in early embryonic development. | Pearson marrow-pancreas syndrome |
What are the treatments for Pearson marrow-pancreas syndrome ? | These resources address the diagnosis or management of Pearson marrow-pancreas syndrome: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Genetic Testing Registry: Pearson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | Pearson marrow-pancreas syndrome |
What is (are) Gaucher disease ? | Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common for... | Gaucher disease |
How many people are affected by Gaucher disease ? | Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This form of the condition affects 1 in 500 to 1,000 pe... | Gaucher disease |
What are the genetic changes related to Gaucher disease ? | Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate t... | Gaucher disease |
Is Gaucher 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. | Gaucher disease |
What are the treatments for Gaucher disease ? | These resources address the diagnosis or management of Gaucher disease: - Baby's First Test - Gene Review: Gene Review: Gaucher Disease - Genetic Testing Registry: Gaucher disease - MedlinePlus Encyclopedia: Gaucher Disease These resources from MedlinePlus offer information about the diagnosis and management of v... | Gaucher disease |
What is (are) Meige disease ? | Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnorma... | Meige disease |
How many people are affected by Meige disease ? | The prevalence of Meige disease is unknown. Collectively, the many types of primary lymphedema affect an estimated 1 in 100,000 people younger than 20; Meige disease is the most common type of primary lymphedema. For unknown reasons, this condition affects females about three times as often as males. | Meige disease |
What are the genetic changes related to Meige disease ? | The cause of Meige disease is unknown. The condition is thought to be genetic because it tends to run in families, and other forms of primary lymphedema have been found to have a genetic cause. Researchers have studied many genes associated with the lymphatic system; however, no genetic change has been definitively fou... | Meige disease |
Is Meige disease inherited ? | Meige disease appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Meige disease. People with Meige disease usually have at least one other affected fa... | Meige disease |
What are the treatments for Meige disease ? | These resources address the diagnosis or management of Meige disease: - Genetic Testing Registry: Lymphedema praecox - Johns Hopkins Medicine: Lymphedema Management These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy... | Meige disease |
What is (are) congenital insensitivity to pain with anhidrosis ? | Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at... | congenital insensitivity to pain with anhidrosis |
How many people are affected by congenital insensitivity to pain with anhidrosis ? | CIPA is a rare condition; however, the prevalence is unknown. | congenital insensitivity to pain with anhidrosis |
What are the genetic changes related to congenital insensitivity to pain with anhidrosis ? | Mutations in the NTRK1 gene cause CIPA. The NTRK1 gene provides instructions for making a receptor protein that attaches (binds) to another protein called NGF. The NTRK1 receptor is important for the survival of nerve cells (neurons). The NTRK1 receptor is found on the surface of cells, particularly neurons that trans... | congenital insensitivity to pain with anhidrosis |
Is congenital insensitivity to pain with anhidrosis inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | congenital insensitivity to pain with anhidrosis |
What are the treatments for congenital insensitivity to pain with anhidrosis ? | These resources address the diagnosis or management of CIPA: - Gene Review: Gene Review: Congenital Insensitivity to Pain with Anhidrosis - Genetic Testing Registry: Hereditary insensitivity to pain with anhidrosis These resources from MedlinePlus offer information about the diagnosis and management of various heal... | congenital insensitivity to pain with anhidrosis |
What is (are) maple syrup urine disease ? | Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and dev... | maple syrup urine disease |
How many people are affected by maple syrup urine disease ? | Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns. | maple syrup urine disease |
What are the genetic changes related to maple syrup urine disease ? | Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, par... | maple syrup urine disease |
Is maple syrup urine 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. | maple syrup urine disease |
What are the treatments for maple syrup urine disease ? | These resources address the diagnosis or management of maple syrup urine disease: - Baby's First Test - Gene Review: Gene Review: Maple Syrup Urine Disease - Genetic Testing Registry: Maple syrup urine disease - MedlinePlus Encyclopedia: Maple Syrup Urine Disease These resources from MedlinePlus offer information... | maple syrup urine disease |
What is (are) chordoma ? | A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to ... | chordoma |
How many people are affected by chordoma ? | Chordomas are rare, occurring in approximately 1 per million individuals each year. Chordomas comprise fewer than 1 percent of tumors affecting the brain and spinal cord. | chordoma |
What are the genetic changes related to chordoma ? | Changes in the T gene have been associated with chordoma. An inherited duplication of the T gene identified in a few families is associated with an increased risk of developing a chordoma. Duplications or increases in activity (expression) of the T gene have also been identified in people with chordoma who have no hist... | chordoma |
Is chordoma inherited ? | When development of a chordoma is associated with a duplication of the T gene inherited from a parent, one copy of the altered gene in each cell is sufficient to increase the risk of the disorder, which is an inheritance pattern called autosomal dominant. People with this duplication inherit an increased risk of this c... | chordoma |
What are the treatments for chordoma ? | These resources address the diagnosis or management of chordoma: - Chordoma Foundation: Treatment - Duke Spine Center - Genetic Testing Registry: Chordoma - Massachusetts General Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos... | chordoma |
What is (are) Carney complex ? | Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood. Individuals with Carney complex are at increased risk of devel... | Carney complex |
How many people are affected by Carney complex ? | Carney complex is a rare disorder; fewer than 750 affected individuals have been identified. | Carney complex |
What are the genetic changes related to Carney complex ? | Mutations in the PRKAR1A gene cause most cases of Carney complex. This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation). The subunit produced from the PRKAR1A gene, called type 1 alpha, helps control whether protein ki... | Carney complex |
Is Carney complex inherited ? | Carney complex 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 approximately 80 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and ... | Carney complex |
What are the treatments for Carney complex ? | These resources address the diagnosis or management of Carney complex: - Gene Review: Gene Review: Carney Complex - Genetic Testing Registry: Carney complex - Genetic Testing Registry: Carney complex, type 1 - Genetic Testing Registry: Carney complex, type 2 - MedlinePlus Encyclopedia: Atrial Myxoma - MedlinePlus... | Carney complex |
What is (are) Smith-Lemli-Opitz syndrome ? | Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of au... | Smith-Lemli-Opitz syndrome |
How many people are affected by Smith-Lemli-Opitz syndrome ? | Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 newborns. This condition is most common in whites of European ancestry, particularly people from Central European countries such as Slovakia and the Czech Republic. It is very rare among African and Asian populations. | Smith-Lemli-Opitz syndrome |
What are the genetic changes related to Smith-Lemli-Opitz syndrome ? | Mutations in the DHCR7 gene cause Smith-Lemli-Opitz syndrome. The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. This enzyme is responsible for the final step in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtai... | Smith-Lemli-Opitz syndrome |
Is Smith-Lemli-Opitz 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. | Smith-Lemli-Opitz syndrome |
What are the treatments for Smith-Lemli-Opitz syndrome ? | These resources address the diagnosis or management of Smith-Lemli-Opitz syndrome: - Gene Review: Gene Review: Smith-Lemli-Opitz Syndrome - Genetic Testing Registry: Smith-Lemli-Opitz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... | Smith-Lemli-Opitz syndrome |
What is (are) Swyer syndrome ? | Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes,... | Swyer syndrome |
How many people are affected by Swyer syndrome ? | Swyer syndrome occurs in approximately 1 in 80,000 people. | Swyer syndrome |
What are the genetic changes related to Swyer syndrome ? | Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome. The SRY gene, located on the Y chromosome, provides instructions for making the sex-determining region Y protein. This protein is a transcription factor, which means it attaches (binds) to specific regions of ... | Swyer syndrome |
Is Swyer syndrome inherited ? | Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases result either from nongenetic causes or from new (de novo) mutations in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. SRY-... | Swyer syndrome |
What are the treatments for Swyer syndrome ? | These resources address the diagnosis or management of Swyer syndrome: - Gene Review: Gene Review: 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis - Genetic Testing Registry: Pure gonadal dysgenesis 46,XY - MedlinePlus Encyclopedia: Intersex - University College London Hospitals: Disorders o... | Swyer syndrome |
What is (are) Williams syndrome ? | Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with William... | Williams syndrome |
How many people are affected by Williams syndrome ? | Williams syndrome affects an estimated 1 in 7,500 to 10,000 people. | Williams syndrome |
What are the genetic changes related to Williams syndrome ? | Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 ... | Williams syndrome |
Is Williams syndrome inherited ? | Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. Williams syndrome is considered an autosomal dominant condition bec... | Williams syndrome |
What are the treatments for Williams syndrome ? | These resources address the diagnosis or management of Williams syndrome: - Gene Review: Gene Review: Williams Syndrome - Genetic Testing Registry: Williams syndrome - MedlinePlus Encyclopedia: Williams Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health... | Williams syndrome |
What is (are) Bardet-Biedl syndrome ? | Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of t... | Bardet-Biedl syndrome |
How many people are affected by Bardet-Biedl syndrome ? | In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada), where it affects an estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin population of... | Bardet-Biedl syndrome |
What are the genetic changes related to Bardet-Biedl syndrome ? | Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes are known or suspected to play critical roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in ... | Bardet-Biedl syndrome |
Is Bardet-Biedl syndrome inherited ? | Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS 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... | Bardet-Biedl syndrome |
What are the treatments for Bardet-Biedl syndrome ? | These resources address the diagnosis or management of Bardet-Biedl syndrome: - Gene Review: Gene Review: Bardet-Biedl Syndrome - Genetic Testing Registry: Bardet-Biedl syndrome - MedlinePlus Encyclopedia: Obesity - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the... | Bardet-Biedl syndrome |
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