qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
|---|---|---|
genetic changes | What are the genetic changes related to Meesmann corneal dystrophy ? | Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide instructions for making proteins called keratin 12 and keratin 3, which are found in the corneal epithelium. The two proteins interact to form the structural framework of this layer of the cornea. Mutatio... |
inheritance | Is Meesmann corneal dystrophy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of an altered KRT12 or KRT3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent. |
treatment | What are the treatments for Meesmann corneal dystrophy ? | These resources address the diagnosis or management of Meesmann corneal dystrophy: - Genetic Testing Registry: Meesman's corneal dystrophy - Merck Manual Home Health Handbook: Tests for Eye Disorders: The Eye Examination These resources from MedlinePlus offer information about the diagnosis and management of variou... |
information | What is (are) factor X deficiency ? | Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of... |
frequency | How many people are affected by factor X deficiency ? | Factor X deficiency occurs in approximately 1 per million individuals worldwide. |
genetic changes | What are the genetic changes related to factor X deficiency ? | The inherited form of factor X deficiency, known as congenital factor X deficiency, is caused by mutations in the F10 gene, which provides instructions for making a protein called coagulation factor X. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood... |
inheritance | Is factor X deficiency inherited ? | When this condition is caused by mutations in the F10 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs... |
treatment | What are the treatments for factor X deficiency ? | These resources address the diagnosis or management of factor X deficiency: - Genetic Testing Registry: Factor X deficiency - MedlinePlus Encyclopedia: Factor X Assay These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Thera... |
information | What is (are) Senior-Lken syndrome ? | Senior-Lken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney ... |
frequency | How many people are affected by Senior-Lken syndrome ? | Senior-Lken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature. |
genetic changes | What are the genetic changes related to Senior-Lken syndrome ? | Senior-Lken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they are involved in signaling pathways tha... |
inheritance | Is Senior-Lken 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. |
treatment | What are the treatments for Senior-Lken syndrome ? | These resources address the diagnosis or management of Senior-Lken syndrome: - Genetic Testing Registry: Senior-Loken syndrome 1 - Genetic Testing Registry: Senior-Loken syndrome 3 - Genetic Testing Registry: Senior-Loken syndrome 4 - Genetic Testing Registry: Senior-Loken syndrome 5 - Genetic Testing Registry: Se... |
information | What is (are) primary myelofibrosis ? | Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofi... |
frequency | How many people are affected by primary myelofibrosis ? | Primary myelofibrosis is a rare condition that affects approximately 1 in 500,000 people worldwide. |
genetic changes | What are the genetic changes related to primary myelofibrosis ? | Mutations in the JAK2, MPL, CALR, and TET2 genes are associated with most cases of primary myelofibrosis. The JAK2 and MPL genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions,... |
inheritance | Is primary myelofibrosis inherited ? | This condition is generally not inherited but arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations. |
treatment | What are the treatments for primary myelofibrosis ? | These resources address the diagnosis or management of primary myelofibrosis: - Genetic Testing Registry: Myelofibrosis - Merck Manual Professional Version: Primary Myelofibrosis - Myeloproliferative Neoplasm (MPN) Research Foundation: Primary Myelofibrosis (PMF) These resources from MedlinePlus offer information ... |
information | What is (are) piebaldism ? | Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 p... |
frequency | How many people are affected by piebaldism ? | The prevalence of piebaldism is unknown. |
genetic changes | What are the genetic changes related to piebaldism ? | Piebaldism can be caused by mutations in the KIT and SNAI2 genes. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional signs and symptoms. The KIT gene provides instructions for making a protein that is involved in signaling withi... |
inheritance | Is piebaldism 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 piebaldism ? | These resources address the diagnosis or management of piebaldism: - Genetic Testing Registry: Partial albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling ... |
information | What is (are) Laron syndrome ? | Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth. Affected individuals are close to normal size at birth, but they experience slow growth from early childhood that results in very sh... |
frequency | How many people are affected by Laron syndrome ? | Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition worldwide. The largest single group of affected individuals (about 100 people) lives in an area of southern Ecuador. |
genetic changes | What are the genetic changes related to Laron syndrome ? | Laron syndrome is caused by mutations in the GHR gene. This gene provides instructions for making a protein called the growth hormone receptor. The receptor is present on the outer membrane of cells throughout the body, particularly liver cells. As its name suggests, the growth hormone receptor attaches (binds) to grow... |
inheritance | Is Laron syndrome inherited ? | Most cases of Laron syndrome are inherited in an autosomal recessive pattern, which means both copies of the GHR 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 Laron syndrome ? | These resources address the diagnosis or management of Laron syndrome: - Children's Hospital of Pittsburgh: Growth Hormone Treatment - Cinncinati Children's Hospital Medical Center: Growth Hormone Therapy - Genetic Testing Registry: Laron-type isolated somatotropin defect These resources from MedlinePlus offer inf... |
information | What is (are) spastic paraplegia type 15 ? | Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex hereditary sp... |
frequency | How many people are affected by spastic paraplegia type 15 ? | Spastic paraplegia type 15 is a rare condition, although its exact prevalence is unknown. |
genetic changes | What are the genetic changes related to spastic paraplegia type 15 ? | Mutations in the ZFYVE26 gene cause spastic paraplegia type 15. This gene provides instructions for making a protein called spastizin. This protein is important in a process called autophagy, in which worn-out cell parts and unneeded proteins are recycled within cells. Specifically, spastizin is involved in the formati... |
inheritance | Is spastic paraplegia type 15 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 spastic paraplegia type 15 ? | These resources address the diagnosis or management of spastic paraplegia type 15: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Spastic Paraplegia Foundation, Inc: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health... |
information | What is (are) vitamin D-dependent rickets ? | Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1-hydroxylase deficiency, and type 2 (VDDR2), also known as here... |
frequency | How many people are affected by vitamin D-dependent rickets ? | Rickets affects an estimated 1 in 200,000 children. The condition is most often caused by a lack of vitamin D in the diet or insufficient sun exposure rather than genetic mutations; genetic forms of rickets, including VDDR1 and VDDR2, are much less common. The prevalence of VDDR1 and VDDR2 is unknown. VDDR1 is more com... |
genetic changes | What are the genetic changes related to vitamin D-dependent rickets ? | The two types of vitamin D-dependent rickets have different genetic causes: CYP27B1 gene mutations cause VDDR1, and VDR gene mutations cause VDDR2. Both genes are involved in the body's response to vitamin D, an important vitamin that can be can be acquired from foods in the diet or made by the body with the help of su... |
inheritance | Is vitamin D-dependent rickets 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 vitamin D-dependent rickets ? | These resources address the diagnosis or management of vitamin D-dependent rickets: - Genetic Testing Registry: Vitamin D-dependent rickets, type 1 - Genetic Testing Registry: Vitamin D-dependent rickets, type 2 - Genetic Testing Registry: Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor These ... |
information | What is (are) 1q21.1 microdeletion ? | 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neu... |
frequency | How many people are affected by 1q21.1 microdeletion ? | 1q21.1 microdeletion is a rare chromosomal change; only a few dozen individuals with this deletion have been reported in the medical literature. |
genetic changes | What are the genetic changes related to 1q21.1 microdeletion ? | Most people with a 1q21.1 microdeletion are missing a sequence of about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region of chromosome 1. However, the exact size of the deleted region varies. This deletion affects one of the two copies of chromosome 1 in each cell.... |
inheritance | Is 1q21.1 microdeletion inherited ? | 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms. In at least half of cases, individuals ... |
treatment | What are the treatments for 1q21.1 microdeletion ? | These resources address the diagnosis or management of 1q21.1 microdeletion: - Gene Review: Gene Review: 1q21.1 Recurrent Microdeletion - Genetic Testing Registry: 1q21.1 recurrent microdeletion These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di... |
information | 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... |
frequency | How many people are affected by autosomal recessive hyper-IgE syndrome ? | AR-HIES is a rare disorder whose prevalence is unknown. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) infantile neuronal ceroid lipofuscinosis ? | Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurren... |
frequency | How many people are affected by infantile neuronal ceroid lipofuscinosis ? | The incidence of infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected. |
genetic changes | What are the genetic changes related to infantile neuronal ceroid lipofuscinosis ? | Mutations in the PPT1 gene cause most cases of infantile NCL. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes cer... |
inheritance | Is infantile 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 infantile neuronal ceroid lipofuscinosis ? | These resources address the diagnosis or management of infantile neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 1 - Genetic Testing Registry: Infantile neuronal ceroid lipofuscinosis These resources from MedlinePlus offer information about the diagnosis and management of ... |
information | What is (are) Crigler-Najjar syndrome ? | Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts... |
frequency | How many people are affected by Crigler-Najjar syndrome ? | Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million newborns worldwide. |
genetic changes | What are the genetic changes related to Crigler-Najjar syndrome ? | Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. The bilirubin-UGT enzyme perform... |
inheritance | Is Crigler-Najjar syndrome inherited ? | Crigler-Najjar syndrome is inherited in an autosomal recessive pattern, which means both copies of the UGT1A1 gene in each cell have mutations. A less severe condition called Gilbert syndrome can occur when one copy of the UGT1A1 gene has a mutation. |
treatment | What are the treatments for Crigler-Najjar syndrome ? | These resources address the diagnosis or management of Crigler-Najjar syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Genetic Testing Registry: Crigler Najjar syndrome, type 1 - Genetic Testing Registry: Crigler-Najjar syndrome - Genetic Testing Registry: Crigler-Najja... |
information | What is (are) idiopathic inflammatory myopathy ? | Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age. The primary symptom of idio... |
frequency | How many people are affected by idiopathic inflammatory myopathy ? | The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 cases per million people each year. For unknown reasons, polymyositis and dermatomyositis are about twice as common in women as in men, while sporadic inclusion body myositis is more common in men. |
genetic changes | What are the genetic changes related to idiopathic inflammatory myopathy ? | Idiopathic inflammatory myopathy is thought to arise from a combination of genetic and environmental factors. The term "idiopathic" indicates that the specific cause of the disorder is unknown. Researchers have identified variations in several genes that may influence the risk of developing idiopathic inflammatory myo... |
inheritance | Is idiopathic inflammatory myopathy inherited ? | Most cases of idiopathic inflammatory myopathy are sporadic, which means they occur in people with no history of the disorder in their family. However, several people with idiopathic inflammatory myopathy have had close relatives with autoimmune disorders. Autoimmune diseases occur when the immune system malfunctions a... |
treatment | What are the treatments for idiopathic inflammatory myopathy ? | These resources address the diagnosis or management of idiopathic inflammatory myopathy: - Genetic Testing Registry: Idiopathic myopathy - Genetic Testing Registry: Inclusion body myositis - Johns Hopkins Myositis Center: Diagnosis - Johns Hopkins Myositis Center: Treatment - Muscular Dystrophy Association: Facts ... |
information | What is (are) isobutyryl-CoA dehydrogenase deficiency ? | Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels o... |
frequency | How many people are affected by isobutyryl-CoA dehydrogenase deficiency ? | IBD deficiency is a rare disorder; approximately 22 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ? | Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to redu... |
inheritance | Is isobutyryl-CoA dehydrogenase 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. |
treatment | What are the treatments for isobutyryl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of isobutyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and ma... |
information | What is (are) spastic paraplegia type 8 ? | Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and ... |
frequency | How many people are affected by spastic paraplegia type 8 ? | The prevalence of all hereditary spastic paraplegias combined is estimated to be 1 to 18 in 100,000 people worldwide. Spastic paraplegia type 8 likely accounts for only a small percentage of all spastic paraplegia cases. |
genetic changes | What are the genetic changes related to spastic paraplegia type 8 ? | Mutations in the KIAA0196 gene cause spastic paraplegia type 8. The KIAA0196 gene provides instructions for making a protein called strumpellin. Strumpellin is active (expressed) throughout the body, although its exact function is unknown. The protein's structure suggests that strumpellin may interact with the structur... |
inheritance | Is spastic paraplegia type 8 inherited ? | Spastic paraplegia type 8 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people wit... |
treatment | What are the treatments for spastic paraplegia type 8 ? | These resources address the diagnosis or management of spastic paraplegia type 8: - Gene Review: Gene Review: Spastic Paraplegia 8 - Genetic Testing Registry: Spastic paraplegia 8 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis ... |
information | What is (are) lamellar ichthyosis ? | Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have ... |
frequency | How many people are affected by lamellar ichthyosis ? | Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 91,000 individuals are affected. |
genetic changes | What are the genetic changes related to lamellar ichthyosis ? | Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation... |
inheritance | Is lamellar ichthyosis 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 lamellar ichthyosis ? | These resources address the diagnosis or management of lamellar ichthyosis: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3 - Genetic Testing Regis... |
information | What is (are) Huntington disease ? | Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritabilit... |
frequency | How many people are affected by Huntington disease ? | Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent. |
genetic changes | What are the genetic changes related to Huntington disease ? | Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. The HTT mutation that causes Huntington disease involves a DNA seg... |
inheritance | Is Huntington disease 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. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the dis... |
treatment | What are the treatments for Huntington disease ? | These resources address the diagnosis or management of Huntington disease: - Gene Review: Gene Review: Huntington Disease - Genetic Testing Registry: Huntington's chorea - Huntington's Disease Society of America: HD Care - MedlinePlus Encyclopedia: Huntington Disease - University of Washington Medical Center: Test... |
information | What is (are) dyserythropoietic anemia and thrombocytopenia ? | Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term "dyserythropoietic" refers to the abnormal red bloo... |
frequency | How many people are affected by dyserythropoietic anemia and thrombocytopenia ? | Dyserythropoietic anemia and thrombocytopenia is a rare condition; its prevalence is unknown. Occasionally, individuals with this disorder are mistakenly diagnosed as having more common blood disorders, making it even more difficult to determine how many people have dyserythropoietic anemia and thrombocytopenia. |
genetic changes | What are the genetic changes related to dyserythropoietic anemia and thrombocytopenia ? | Mutations in the GATA1 gene cause dyserythropoietic anemia and thrombocytopenia. The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the GATA1 protein is known as a transcription facto... |
inheritance | Is dyserythropoietic anemia and thrombocytopenia 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... |
treatment | What are the treatments for dyserythropoietic anemia and thrombocytopenia ? | These resources address the diagnosis or management of dyserythropoietic anemia and thrombocytopenia: - Gene Review: Gene Review: GATA1-Related X-Linked Cytopenia - Genetic Testing Registry: GATA-1-related thrombocytopenia with dyserythropoiesis These resources from MedlinePlus offer information about the diagnosis... |
information | What is (are) progressive pseudorheumatoid dysplasia ? | Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints ... |
frequency | How many people are affected by progressive pseudorheumatoid dysplasia ? | PPRD has been estimated to occur in approximately 1 per million people in the United Kingdom. The condition is thought to be more common in Turkey and the Middle East, although its prevalence in these regions is unknown. The condition in all regions is likely underdiagnosed because it is often misdiagnosed as juvenile ... |
genetic changes | What are the genetic changes related to progressive pseudorheumatoid dysplasia ? | PPRD is caused by mutations in the WISP3 gene. The function of the protein produced from this gene is not well understood, although it is thought to play a role in bone growth and cartilage maintenance. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage. This protein is associa... |
inheritance | Is progressive pseudorheumatoid dysplasia 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 progressive pseudorheumatoid dysplasia ? | These resources address the diagnosis or management of progressive pseudorheumatoid dysplasia: - Cedars-Sinai: Skeletal Dysplasias - Gene Review: Gene Review: Progressive Pseudorheumatoid Dysplasia - Genetic Testing Registry: Progressive pseudorheumatoid dysplasia These resources from MedlinePlus offer information... |
information | What is (are) rapid-onset dystonia parkinsonism ? | Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia)... |
frequency | How many people are affected by rapid-onset dystonia parkinsonism ? | Rapid-onset dystonia parkinsonism appears to be a rare disorder, although its prevalence is unknown. It has been diagnosed in individuals and families from the United States, Europe, and Korea. |
genetic changes | What are the genetic changes related to rapid-onset dystonia parkinsonism ? | Rapid-onset dystonia parkinsonism is caused by mutations in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. It transports charged atoms (i... |
inheritance | Is rapid-onset dystonia parkinsonism inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ATP1A3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no h... |
treatment | What are the treatments for rapid-onset dystonia parkinsonism ? | These resources address the diagnosis or management of rapid-onset dystonia parkinsonism: - Gene Review: Gene Review: Rapid-Onset Dystonia-Parkinsonism - Genetic Testing Registry: Dystonia 12 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... |
information | What is (are) breast cancer ? | Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk duct... |
frequency | How many people are affected by breast cancer ? | Breast cancer is the second most commonly diagnosed cancer in women. (Only skin cancer is more common.) About one in eight women in the United States will develop invasive breast cancer in her lifetime. Researchers estimate that more than 230,000 new cases of invasive breast cancer will be diagnosed in U.S. women in 20... |
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