qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
|---|---|---|
genetic changes | What are the genetic changes related to globozoospermia ? | Globozoospermia is most commonly caused by mutations in the DPY19L2 gene, which are found in about 70 percent of men with this condition. Mutations in other genes likely also cause globozoospermia. The DPY19L2 gene provides instructions for making a protein that is found in developing sperm cells. The DPY19L2 protein ... |
inheritance | Is globozoospermia 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 globozoospermia ? | These resources address the diagnosis or management of globozoospermia: - Association for Reproductive Medicine: Semen Analysis - Centers for Disease Control: Assisted Reproductive Technology (ART) - Genetic Testing Registry: Globozoospermia - MedlinePlus Encyclopedia: Semen Analysis - MedlinePlus Health Topic: As... |
information | What is (are) recurrent hydatidiform mole ? | Recurrent hydatidiform mole occurs when women have at least two abnormal pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in pregnancy when an embryo does not fully develop and the placenta develops abnormally. The placenta is a solid structure in the uterus that normally provides nutrients... |
frequency | How many people are affected by recurrent hydatidiform mole ? | Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western countries and are more common in developing countries. One to six percent of previously affected women will have a recurrent hydatidiform mole. |
genetic changes | What are the genetic changes related to recurrent hydatidiform mole ? | Mutations in the NLRP7 or KHDC3L gene can cause recurrent hydatidiform mole, with NLRP7 gene mutations being the most common cause. Within egg cells (oocytes), both the NLRP7 and KHDC3L proteins are thought to play a role in turning off (inactivating) certain genes based on which parent the copy of the gene came from,... |
inheritance | Is recurrent hydatidiform mole inherited ? | This condition is often inherited in an autosomal recessive pattern, which means a woman has to have mutations in both copies of the gene in each of her cells to have recurrent hydatidiform mole pregnancies. Because the mutations are present in all of a woman's cells, including oocytes (which need these genes to promot... |
treatment | What are the treatments for recurrent hydatidiform mole ? | These resources address the diagnosis or management of recurrent hydatidiform mole: - American Cancer Society: Signs and Symptoms of Gestational Trophoblastic Disease - Genetic Testing Registry: Hydatidiform mole - Genetic Testing Registry: Hydatidiform mole, recurrent, 2 - MedlinePlus Encyclopedia: Choriocarcinoma... |
information | What is (are) core binding factor acute myeloid leukemia ? | Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body f... |
frequency | How many people are affected by core binding factor acute myeloid leukemia ? | Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults. |
genetic changes | What are the genetic changes related to core binding factor acute myeloid leukemia ? | CBF-AML is associated with chromosomal rearrangements between chromosomes 8 and 21 and within chromosome 16. The rearrangements involve the RUNX1, RUNX1T1, CBFB, and MYH11 genes. Two of these genes, RUNX1 and CBFB, provide instructions for making the two pieces of a protein complex known as core binding factor (CBF). C... |
inheritance | Is core binding factor acute myeloid leukemia inherited ? | CBF-AML is not inherited but arises from genetic rearrangements in the body's cells that occur after conception. |
treatment | What are the treatments for core binding factor acute myeloid leukemia ? | These resources address the diagnosis or management of core binding factor acute myeloid leukemia: - Fred Hutchinson Cancer Research Center - Genetic Testing Registry: Acute myeloid leukemia - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital These resources from ... |
information | What is (are) Gillespie syndrome ? | Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability. Gillespie syndrome is characterized by aniridia, which is the absence of the colored part of the eye (the iris). In most affected individuals, only ... |
frequency | How many people are affected by Gillespie syndrome ? | The prevalence of Gillespie syndrome is unknown. Only a few dozen affected individuals have been described in the medical literature. It has been estimated that Gillespie syndrome accounts for about 2 percent of cases of aniridia. |
genetic changes | What are the genetic changes related to Gillespie syndrome ? | Gillespie syndrome can be caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in early development, including the development of the eyes and brain. The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the ... |
inheritance | Is Gillespie syndrome inherited ? | In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit the mutation from one affected parent. Other ca... |
treatment | What are the treatments for Gillespie syndrome ? | These resources address the diagnosis or management of Gillespie syndrome: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Intellectual and Developmental Disabilities? - Eunice Kennedy Shriver National Institute of Child Health and Human Develop... |
information | What is (are) pachyonychia congenita ? | Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life. Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick a... |
frequency | How many people are affected by pachyonychia congenita ? | Although the prevalence of pachyonychia congenita is unknown, it appears to be rare. There are probably several thousand people worldwide with this disorder. |
genetic changes | What are the genetic changes related to pachyonychia congenita ? | Mutations in several genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17, can cause pachyonychia congenita. All of these genes provide instructions for making tough, fibrous proteins called keratins. These proteins form networks that provide strength and resilience to the tissues that make up the skin, hair, and nai... |
inheritance | Is pachyonychia congenita inherited ? | Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits the mutation from one affected parent. The other half of cases result from a new (de novo) mutation in ... |
treatment | What are the treatments for pachyonychia congenita ? | These resources address the diagnosis or management of pachyonychia congenita: - Gene Review: Gene Review: Pachyonychia Congenita - Genetic Testing Registry: Pachyonychia congenita 4 - Genetic Testing Registry: Pachyonychia congenita syndrome - Genetic Testing Registry: Pachyonychia congenita type 2 - Genetic Test... |
information | What is (are) lattice corneal dystrophy type II ? | Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Amyloid depos... |
frequency | How many people are affected by lattice corneal dystrophy type II ? | Lattice corneal dystrophy type II is a rare condition; however, the prevalence is unknown. While this condition can be found in populations worldwide, it was first described in Finland and is more common there. |
genetic changes | What are the genetic changes related to lattice corneal dystrophy type II ? | Lattice corneal dystrophy type II is caused by mutations in the GSN gene. This gene provides instructions for making a protein called gelsolin. This protein is found throughout the body and helps regulate the formation of the network of protein filaments that gives structure to cells (the cytoskeleton). Mutations that ... |
inheritance | Is lattice corneal dystrophy type II 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. Although a mutation in one copy of the gene can cause the disorder, people with mutations in both copies of the gene have more severe signs and symptoms. |
treatment | What are the treatments for lattice corneal dystrophy type II ? | These resources address the diagnosis or management of lattice corneal dystrophy type II: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Meretoja syndrome - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources from MedlinePlus... |
information | What is (are) Nager syndrome ? | Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals. Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an op... |
frequency | How many people are affected by Nager syndrome ? | Nager syndrome is a rare condition, although its prevalence is unknown. More than 75 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Nager syndrome ? | The cause of Nager syndrome is unknown. Although the specific genes involved have not been identified, researchers believe that this condition is caused by changes in a particular region of chromosome 9 in some families. Nager syndrome disrupts the development of structures called the first and second pharyngeal arche... |
inheritance | Is Nager syndrome inherited ? | Most cases of Nager syndrome are sporadic, which means that they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal... |
treatment | What are the treatments for Nager syndrome ? | These resources address the diagnosis or management of Nager syndrome: - Genetic Testing Registry: Nager syndrome - University of California San Francisco Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... |
information | What is (are) Meier-Gorlin syndrome ? | Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this conditi... |
frequency | How many people are affected by Meier-Gorlin syndrome ? | Meier-Gorlin syndrome is a rare condition; however, its prevalence is unknown. |
genetic changes | What are the genetic changes related to Meier-Gorlin syndrome ? | Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Sp... |
inheritance | Is Meier-Gorlin 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 Meier-Gorlin syndrome ? | These resources address the diagnosis or management of Meier-Gorlin syndrome: - Genetic Testing Registry: Meier-Gorlin syndrome - Genetic Testing Registry: Meier-Gorlin syndrome 2 - Genetic Testing Registry: Meier-Gorlin syndrome 3 - Genetic Testing Registry: Meier-Gorlin syndrome 4 - Genetic Testing Registry: Mei... |
information | What is (are) proopiomelanocortin deficiency ? | Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. Affected infants are usually a normal weight at birth, but they a... |
frequency | How many people are affected by proopiomelanocortin deficiency ? | POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to proopiomelanocortin deficiency ? | POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cort... |
inheritance | Is proopiomelanocortin deficiency inherited ? | POMC deficiency 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 this condition each carry one copy of the mutated gene. They typically do not have POMC deficiency, but they may have an increased risk of obesity. |
treatment | What are the treatments for proopiomelanocortin deficiency ? | These resources address the diagnosis or management of proopiomelanocortin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight Diagnosed? - Gene Review: Gene Review: Proopiomelanocortin Deficiency - Genetic Testing Registry: Proopiomelanocorti... |
information | What is (are) leukoencephalopathy with vanishing white matter ? | Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulate... |
frequency | How many people are affected by leukoencephalopathy with vanishing white matter ? | The prevalence of leukoencephalopathy with vanishing white matter is unknown. Although it is a rare disorder, it is believed to be one of the most common inherited diseases that affect the white matter. |
genetic changes | What are the genetic changes related to leukoencephalopathy with vanishing white matter ? | Mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter. The EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 genes provide instructions for making the five parts (subunits) of a protein called eIF2B. The eIF2B protein helps regulate overall protein production (... |
inheritance | Is leukoencephalopathy with vanishing white matter 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 leukoencephalopathy with vanishing white matter ? | These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter: - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter - Genetic Testing Registry: Leukoencephalopathy with vanishing white matter These resources from Medl... |
information | What is (are) capillary malformation-arteriovenous malformation syndrome ? | Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back t... |
frequency | How many people are affected by capillary malformation-arteriovenous malformation syndrome ? | CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. The prevalence of the condition in other populations is unknown. |
genetic changes | What are the genetic changes related to capillary malformation-arteriovenous malformation syndrome ? | CM-AVM is caused by mutations in the RASA1 gene. This gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including cell growth and division (proliferat... |
inheritance | Is capillary malformation-arteriovenous malformation syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. 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 with no histor... |
treatment | What are the treatments for capillary malformation-arteriovenous malformation syndrome ? | These resources address the diagnosis or management of CM-AVM: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Capillary malformation-arteriovenous malformation These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... |
information | What is (are) 6q24-related transient neonatal diabetes mellitus ? | 6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for ... |
frequency | How many people are affected by 6q24-related transient neonatal diabetes mellitus ? | Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes mellitus. In about half of these babies, the diabetes is transient. Researchers estimate that approximately 70 percent of transient diabetes in newborns is caused by 6q24-related transient neonatal diabetes mellitus. |
genetic changes | What are the genetic changes related to 6q24-related transient neonatal diabetes mellitus ? | 6q24-related transient neonatal diabetes mellitus is caused by the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. People inherit two copies of their genes, one from their mother and one from their father. Usually both copies of each gene are active, or "turne... |
inheritance | Is 6q24-related transient neonatal diabetes mellitus inherited ? | Most cases of 6q24-related transient neonatal diabetes mellitus are not inherited, particularly those caused by paternal uniparental disomy. In these cases, genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically hav... |
treatment | What are the treatments for 6q24-related transient neonatal diabetes mellitus ? | These resources address the diagnosis or management of 6q24-related transient neonatal diabetes mellitus: - Gene Review: Gene Review: Diabetes Mellitus, 6q24-Related Transient Neonatal - Genetic Testing Registry: Transient neonatal diabetes mellitus 1 - The Merck Manual for Healthcare Professionals - University of ... |
information | What is (are) nonbullous congenital ichthyosiform erythroderma ? | Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Individuals with NBCIE have skin that is red ... |
frequency | How many people are affected by nonbullous congenital ichthyosiform erythroderma ? | NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected. |
genetic changes | What are the genetic changes related to nonbullous congenital ichthyosiform erythroderma ? | Mutations in at least three genes can cause NBCIE. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The epidermis forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with NBCIE disrupt this ... |
inheritance | Is nonbullous congenital ichthyosiform erythroderma 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 nonbullous congenital ichthyosiform erythroderma ? | These resources address the diagnosis or management of nonbullous congenital ichthyosiform erythroderma: - Foundation for Ichthyosis and Related Skin Types (FIRST): Treatments - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2... |
information | What is (are) type 1 diabetes ? | Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin resul... |
frequency | How many people are affected by type 1 diabetes ? | Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less frequently in ... |
genetic changes | What are the genetic changes related to type 1 diabetes ? | The causes of type 1 diabetes are unknown, although several risk factors have been identified. The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The H... |
inheritance | Is type 1 diabetes inherited ? | A predisposition to develop type 1 diabetes is passed through generations in families, but the inheritance pattern is unknown. |
treatment | What are the treatments for type 1 diabetes ? | These resources address the diagnosis or management of type 1 diabetes: - Food and Drug Administration: Blood Glucose Measuring Devices - Food and Drug Administration: Insulin - Genetic Testing Registry: Diabetes mellitus type 1 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 10 - Genetic Testing... |
information | What is (are) campomelic dysplasia ? | Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period. The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of ... |
frequency | How many people are affected by campomelic dysplasia ? | The prevalence of campomelic dysplasia is uncertain; estimates range from 1 in 40,000 to 200,000 people. |
genetic changes | What are the genetic changes related to campomelic dysplasia ? | Mutations in or near the SOX9 gene cause campomelic dysplasia. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important f... |
inheritance | Is campomelic dysplasia inherited ? | Campomelic dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in or near the SOX9 gene and occur in people with no history of the disorder in their family. Rarely, affected individuals i... |
treatment | What are the treatments for campomelic dysplasia ? | These resources address the diagnosis or management of campomelic dysplasia: - European Skeletal Dysplasia Network - Gene Review: Gene Review: Campomelic Dysplasia - Genetic Testing Registry: Camptomelic dysplasia - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Pierre-Robin Syndrome - ... |
information | What is (are) glycogen storage disease type 0 ? | Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation i... |
frequency | How many people are affected by glycogen storage disease type 0 ? | The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle type and fewer than 30 people with the liver type have been described in the scientific literature. Because some people with muscle GSD 0 die from sudden cardiac arrest early in life before a diagnosis is made and many with liver GSD 0 have mild s... |
genetic changes | What are the genetic changes related to glycogen storage disease type 0 ? | Mutations in the GYS1 gene cause muscle GSD 0, and mutations in the GYS2 gene cause liver GSD 0. These genes provide instructions for making different versions of an enzyme called glycogen synthase. Both versions of glycogen synthase have the same function, to form glycogen molecules by linking together molecules of th... |
inheritance | Is glycogen storage disease type 0 inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for glycogen storage disease type 0 ? | These resources address the diagnosis or management of glycogen storage disease type 0: - Genetic Testing Registry: Glycogen storage disease 0, muscle - Genetic Testing Registry: Hypoglycemia with deficiency of glycogen synthetase in the liver These resources from MedlinePlus offer information about the diagnosis a... |
information | What is (are) congenital fiber-type disproportion ? | Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of... |
frequency | How many people are affected by congenital fiber-type disproportion ? | Congenital fiber-type disproportion is thought to be a rare condition, although its prevalence is unknown. |
genetic changes | What are the genetic changes related to congenital fiber-type disproportion ? | Mutations in multiple genes can cause congenital fiber-type disproportion. Mutations in the TPM3, RYR1 and ACTA1 genes cause 35 to 50 percent of cases, while mutations in other genes, some known and some unidentified, are responsible for the remaining cases. The genes that cause congenital fiber-type disproportion pro... |
inheritance | Is congenital fiber-type disproportion inherited ? | Congenital fiber-type disproportion can have multiple inheritance patterns. When this condition is caused by mutations in the ACTA1 gene, it usually occurs in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most other c... |
treatment | What are the treatments for congenital fiber-type disproportion ? | These resources address the diagnosis or management of congenital fiber-type disproportion: - Gene Review: Gene Review: Congenital Fiber-Type Disproportion - Genetic Testing Registry: Congenital myopathy with fiber type disproportion - MedlinePlus Encyclopedia: Contracture Deformity - MedlinePlus Encyclopedia: Hypo... |
information | What is (are) type A insulin resistance syndrome ? | Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from th... |
frequency | How many people are affected by type A insulin resistance syndrome ? | Type A insulin resistance syndrome is estimated to affect about 1 in 100,000 people worldwide. Because females have more health problems associated with the condition, it is diagnosed more often in females than in males. |
genetic changes | What are the genetic changes related to type A insulin resistance syndrome ? | Type A insulin resistance syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating i... |
inheritance | Is type A insulin resistance syndrome inherited ? | Type A insulin resistance syndrome can have either an autosomal dominant or, less commonly, an autosomal recessive pattern of inheritance. In autosomal dominant inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one a... |
treatment | What are the treatments for type A insulin resistance syndrome ? | These resources address the diagnosis or management of type A insulin resistance syndrome: - Genetic Testing Registry: Insulin-resistant diabetes mellitus AND acanthosis nigricans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... |
information | What is (are) long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficul... |
frequency | How many people are affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | The incidence of LCHAD deficiency is unknown. One estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this disorder. In the United States, the incidence is probably much lower. |
genetic changes | What are the genetic changes related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | Mutations in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein co... |
inheritance | Is long-chain 3-hydroxyacyl-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 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of LCHAD deficiency: - Baby's First Test - Genetic Testing Registry: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from MedlinePlus offer informati... |
information | What is (are) optic atrophy type 1 ? | Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range fr... |
frequency | How many people are affected by optic atrophy type 1 ? | Optic atrophy type 1 is estimated to affect 1 in 50,000 people worldwide. This condition is more common in Denmark, where it affects approximately 1 in 10,000 people. |
genetic changes | What are the genetic changes related to optic atrophy type 1 ? | Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in many types of cells and tissues throughout the body. The OPA1 protein is found inside mitochondria, which are the energy-producing centers of cells. The OPA1 protein plays a key role in the organization of the s... |
inheritance | Is optic atrophy type 1 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 optic atrophy type 1 ? | These resources address the diagnosis or management of optic atrophy type 1: - Gene Review: Gene Review: Optic Atrophy Type 1 - Genetic Testing Registry: Dominant hereditary optic atrophy - MedlinePlus Encyclopedia: Optic Nerve Atrophy - MedlinePlus Encyclopedia: Visual Acuity Test These resources from MedlinePlu... |
information | What is (are) geleophysic dysplasia ? | Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called cont... |
frequency | How many people are affected by geleophysic dysplasia ? | Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported. |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.