qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
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genetic changes | What are the genetic changes related to Nijmegen breakage syndrome ? | Mutations in the NBN gene cause Nijmegen breakage syndrome. The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. Nibrin interacts with two other proteins as part of a larger protein complex. This prot... |
inheritance | Is Nijmegen breakage syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Nijmegen breakage syndrome ? | These resources address the diagnosis or management of Nijmegen breakage syndrome: - Boston Children's Hospital: Pneumonia in Children - Boston Children's Hospital: Sinusitis in Children - Cleveland Clinic: Bronchitis - Gene Review: Gene Review: Nijmegen Breakage Syndrome - Genetic Testing Registry: Microcephaly, ... |
information | What is (are) congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, g... |
frequency | How many people are affected by congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is probably very rare; only a few affected families have been reported in the medical literature. |
genetic changes | What are the genetic changes related to congenital stromal corneal dystrophy ? | Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. In the c... |
inheritance | Is congenital stromal corneal dystrophy 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 congenital stromal corneal dystrophy ? | These resources address the diagnosis or management of congenital stromal corneal dystrophy: - Gene Review: Gene Review: Congenital Stromal Corneal Dystrophy - Genetic Testing Registry: Congenital Stromal Corneal Dystrophy - MedlinePlus Encyclopedia: Cloudy Cornea These resources from MedlinePlus offer information... |
information | What is (are) Beare-Stevenson cutis gyrata syndrome ? | Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of... |
frequency | How many people are affected by Beare-Stevenson cutis gyrata syndrome ? | Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide. |
genetic changes | What are the genetic changes related to Beare-Stevenson cutis gyrata syndrome ? | Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation in the FGFR2 gene alters the protein and promotes... |
inheritance | Is Beare-Stevenson cutis gyrata 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. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family. |
treatment | What are the treatments for Beare-Stevenson cutis gyrata syndrome ? | These resources address the diagnosis or management of Beare-Stevenson cutis gyrata syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Cutis Gyrata syndrome of Beare and Stevenson - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Cran... |
information | What is (are) porphyria ? | Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including h... |
frequency | How many people are affected by porphyria ? | The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never ... |
genetic changes | What are the genetic changes related to porphyria ? | Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS. The genes related to porphyria provide instructions for making the enzymes needed to produce heme. Mutations in most of these genes reduce enzyme activity, which limits the amount of heme the body c... |
inheritance | Is porphyria inherited ? | Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria. Autosomal dominant ... |
treatment | What are the treatments for porphyria ? | These resources address the diagnosis or management of porphyria: - Gene Review: Gene Review: Acute Intermittent Porphyria - Gene Review: Gene Review: Congenital Erythropoietic Porphyria - Gene Review: Gene Review: Erythropoietic Protoporphyria, Autosomal Recessive - Gene Review: Gene Review: Hereditary Coproporphy... |
information | What is (are) isodicentric chromosome 15 syndrome ? | Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals. Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and contributes to delayed development and impairment of motor skills, inc... |
frequency | How many people are affected by isodicentric chromosome 15 syndrome ? | Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns. |
genetic changes | What are the genetic changes related to isodicentric chromosome 15 syndrome ? | Isodicentric chromosome 15 syndrome results from the presence of an abnormal extra chromosome, called an isodicentric chromosome 15, in each cell. An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromoso... |
inheritance | Is isodicentric chromosome 15 syndrome inherited ? | Isodicentric chromosome 15 syndrome is usually not inherited. The chromosomal change that causes the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual. Most affected individuals have no history of the disorder in their family. |
treatment | What are the treatments for isodicentric chromosome 15 syndrome ? | These resources address the diagnosis or management of isodicentric chromosome 15 syndrome: - Autism Speaks: How is Autism Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... |
information | What is (are) polymicrogyria ? | Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many... |
frequency | How many people are affected by polymicrogyria ? | The prevalence of isolated polymicrogyria is unknown. Researchers believe that it may be relatively common overall, although the individual forms of the disorder (such as bilateral generalized polymicrogyria) are probably rare. |
genetic changes | What are the genetic changes related to polymicrogyria ? | In most people with polymicrogyria, the cause of the condition is unknown. However, researchers have identified several environmental and genetic factors that can be responsible for the disorder. Environmental causes of polymicrogyria include certain infections during pregnancy and a lack of oxygen to the fetus (intrau... |
inheritance | Is polymicrogyria inherited ? | Isolated polymicrogyria can have different inheritance patterns. Several forms of the condition, including bilateral frontoparietal polymicrogyria (which is associated with mutations in the ADGRG1 gene), have an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in e... |
treatment | What are the treatments for polymicrogyria ? | These resources address the diagnosis or management of polymicrogyria: - Gene Review: Gene Review: Polymicrogyria Overview - Genetic Testing Registry: Congenital bilateral perisylvian syndrome - Genetic Testing Registry: Polymicrogyria, asymmetric - Genetic Testing Registry: Polymicrogyria, bilateral frontoparietal... |
information | What is (are) Pompe disease ? | Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in sever... |
frequency | How many people are affected by Pompe disease ? | Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups. |
genetic changes | What are the genetic changes related to Pompe disease ? | Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a sim... |
inheritance | Is Pompe disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Pompe disease ? | These resources address the diagnosis or management of Pompe disease: - Baby's First Test - Gene Review: Gene Review: Glycogen Storage Disease Type II (Pompe Disease) - Genetic Testing Registry: Glycogen storage disease type II, infantile - Genetic Testing Registry: Glycogen storage disease, type II These resourc... |
information | What is (are) hereditary xanthinuria ? | Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms... |
frequency | How many people are affected by hereditary xanthinuria ? | The combined incidence of hereditary xanthinuria types I and II is estimated to be about 1 in 69,000 people worldwide. However, researchers suspect that the true incidence may be higher because some affected individuals have no symptoms and are never diagnosed with the condition. Hereditary xanthinuria appears to be mo... |
genetic changes | What are the genetic changes related to hereditary xanthinuria ? | Hereditary xanthinuria type I is caused by mutations in the XDH gene. This gene provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme is involved in the normal breakdown of purines, which are building blocks of DNA and its chemical cousin, RNA. Specifically, xanthine dehydrogenase carrie... |
inheritance | Is hereditary xanthinuria 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 hereditary xanthinuria ? | These resources address the diagnosis or management of hereditary xanthinuria: - Genetic Testing Registry: Deficiency of xanthine oxidase - Genetic Testing Registry: Xanthinuria type 2 - MedlinePlus Encyclopedia: Uric Acid - Blood These resources from MedlinePlus offer information about the diagnosis and managemen... |
information | What is (are) hyperkalemic periodic paralysis ? | Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after w... |
frequency | How many people are affected by hyperkalemic periodic paralysis ? | Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people. |
genetic changes | What are the genetic changes related to hyperkalemic periodic paralysis ? | Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. One of the cha... |
inheritance | Is hyperkalemic periodic paralysis inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for hyperkalemic periodic paralysis ? | These resources address the diagnosis or management of hyperkalemic periodic paralysis: - Gene Review: Gene Review: Hyperkalemic Periodic Paralysis - Genetic Testing Registry: Familial hyperkalemic periodic paralysis - Genetic Testing Registry: Hyperkalemic Periodic Paralysis Type 1 - MedlinePlus Encyclopedia: Hype... |
information | What is (are) arginase deficiency ? | Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effe... |
frequency | How many people are affected by arginase deficiency ? | Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals. |
genetic changes | What are the genetic changes related to arginase deficiency ? | Mutations in the ARG1 gene cause arginase deficiency. Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called... |
inheritance | Is arginase 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 arginase deficiency ? | These resources address the diagnosis or management of arginase deficiency: - Baby's First Test - Gene Review: Gene Review: Arginase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Arginase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality T... |
information | What is (are) neuroblastoma ? | Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites fo... |
frequency | How many people are affected by neuroblastoma ? | Neuroblastoma is the most common cancer in infants younger than 1 year. It occurs in 1 in 100,000 children and is diagnosed in about 650 children each year in the United States. |
genetic changes | What are the genetic changes related to neuroblastoma ? | Neuroblastoma and other cancers occur when a buildup of genetic mutations in critical genesthose that control cell growth and division (proliferation) or maturation (differentiation)allow cells to grow and divide uncontrollably to form a tumor. In most cases, these genetic changes are acquired during a person's lifetim... |
inheritance | Is neuroblastoma inherited ? | Most people with neuroblastoma have sporadic neuroblastoma, meaning the condition arose from somatic mutations in the body's cells and was not inherited. About 1 to 2 percent of affected individuals have familial neuroblastoma. This form of the condition has an autosomal dominant inheritance pattern, which means one c... |
treatment | What are the treatments for neuroblastoma ? | These resources address the diagnosis or management of neuroblastoma: - American Cancer Society: Diagnosis of Neuroblastoma - Gene Review: Gene Review: ALK-Related Neuroblastic Tumor Susceptibility - Genetic Testing Registry: Neuroblastoma - Genetic Testing Registry: Neuroblastoma 2 - Genetic Testing Registry: Neu... |
information | What is (are) Birt-Hogg-Dub syndrome ? | Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dub syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. Th... |
frequency | How many people are affected by Birt-Hogg-Dub syndrome ? | Birt-Hogg-Dub syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families. |
genetic changes | What are the genetic changes related to Birt-Hogg-Dub syndrome ? | Mutations in the FLCN gene cause Birt-Hogg-Dub syndrome. This gene provides instructions for making a protein called folliculin. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors prevent cells from growing and dividing too rapidly or in an u... |
inheritance | Is Birt-Hogg-Dub syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condition results from a new mutation in the gene and occurs ... |
treatment | What are the treatments for Birt-Hogg-Dub syndrome ? | These resources address the diagnosis or management of Birt-Hogg-Dub syndrome: - BHD Foundation: Practical Considerations - Gene Review: Gene Review: Birt-Hogg-Dube Syndrome - Genetic Testing Registry: Multiple fibrofolliculomas - MedlinePlus Encyclopedia: Collapsed Lung These resources from MedlinePlus offer inf... |
information | What is (are) N-acetylglutamate synthase deficiency ? | N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. N-acetylglutamate synth... |
frequency | How many people are affected by N-acetylglutamate synthase deficiency ? | N-acetylglutamate synthase deficiency is a very rare disorder. Only a few cases have been reported worldwide, and the overall incidence is unknown. |
genetic changes | What are the genetic changes related to N-acetylglutamate synthase deficiency ? | Mutations in the NAGS gene cause N-acetylglutamate synthase deficiency. N-acetylglutamate synthase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by... |
inheritance | Is N-acetylglutamate synthase 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 N-acetylglutamate synthase deficiency ? | These resources address the diagnosis or management of N-acetylglutamate synthase deficiency: - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperammonemia, type III - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resources from MedlinePlus offer informati... |
information | What is (are) Winchester syndrome ? | Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester syndrome and M... |
frequency | How many people are affected by Winchester syndrome ? | Winchester syndrome is a rare condition whose prevalence is unknown. It has been reported in only a few individuals worldwide. |
genetic changes | What are the genetic changes related to Winchester syndrome ? | Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1-MMP). This gene provides instructions for making a protein called matrix metallopeptidase 14, which is found on the surface of cells. Matrix metallopeptidase 14 normally helps modify and break down various components of the extracellular ma... |
inheritance | Is Winchester 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 Winchester syndrome ? | These resources address the diagnosis or management of Winchester syndrome: - Genetic Testing Registry: Winchester syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ... |
information | What is (are) Wolman disease ? | Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), an... |
frequency | How many people are affected by Wolman disease ? | Wolman disease is estimated to occur in 1 in 350,000 newborns. |
genetic changes | What are the genetic changes related to Wolman disease ? | Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they c... |
inheritance | Is Wolman disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Wolman disease ? | These resources address the diagnosis or management of Wolman disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... |
information | What is (are) purine nucleoside phosphorylase deficiency ? | Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. Affected individuals are prone to repeated and persist... |
frequency | How many people are affected by purine nucleoside phosphorylase deficiency ? | Purine nucleoside phosphorylase deficiency is rare; only about 70 affected individuals have been identified. This disorder accounts for approximately 4 percent of all SCID cases. |
genetic changes | What are the genetic changes related to purine nucleoside phosphorylase deficiency ? | Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body... |
inheritance | Is purine nucleoside phosphorylase 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 purine nucleoside phosphorylase deficiency ? | These resources address the diagnosis or management of purine nucleoside phosphorylase deficiency: - Baby's First Test: Severe Combined Immunodeficiency - Genetic Testing Registry: Purine-nucleoside phosphorylase deficiency - National Marrow Donor Program These resources from MedlinePlus offer information about th... |
information | What is (are) Cushing disease ? | Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this condition is usually weight gain around the trunk and in t... |
frequency | How many people are affected by Cushing disease ? | Cushing disease is estimated to occur in 10 to 15 per million people worldwide. For reasons that are unclear, Cushing disease affects females more often than males. |
genetic changes | What are the genetic changes related to Cushing disease ? | The genetic cause of Cushing disease is often unknown. In only a few instances, mutations in certain genes have been found to lead to Cushing disease. These genetic changes are called somatic mutations. They are acquired during a person's lifetime and are present only in certain cells. The genes involved often play a r... |
inheritance | Is Cushing disease inherited ? | Most cases of Cushing disease are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. The various syndromes that have Cushing disease as a feature can have diffe... |
treatment | What are the treatments for Cushing disease ? | These resources address the diagnosis or management of Cushing disease: - Genetic Testing Registry: Pituitary dependent hypercortisolism - MedlinePlus Encyclopedia: Cortisol Level - MedlinePlus Encyclopedia: Cushing Disease - The Endocrine Society's Clinical Guidelines: The Diagnosis of Cushing's Syndrome These r... |
information | What is (are) pseudoxanthoma elasticum ? | Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. In PXE, minera... |
frequency | How many people are affected by pseudoxanthoma elasticum ? | PXE affects approximately 1 in 50,000 people worldwide. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males. |
genetic changes | What are the genetic changes related to pseudoxanthoma elasticum ? | Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues, including the skin, stomach, blood vessels, and eyes. MRP6 is thought to tran... |
inheritance | Is pseudoxanthoma elasticum inherited ? | PXE is inherited in an autosomal recessive manner, 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. In a few cases, an affected in... |
treatment | What are the treatments for pseudoxanthoma elasticum ? | These resources address the diagnosis or management of pseudoxanthoma elasticum: - Gene Review: Gene Review: Pseudoxanthoma Elasticum - Genetic Testing Registry: Pseudoxanthoma elasticum These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... |
information | What is (are) beta-mannosidosis ? | Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disabil... |
frequency | How many people are affected by beta-mannosidosis ? | Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed. |
genetic changes | What are the genetic changes related to beta-mannosidosis ? | Mutations in the MANBA gene cause beta-mannosidosis. The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosa... |
inheritance | Is beta-mannosidosis 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 beta-mannosidosis ? | These resources address the diagnosis or management of beta-mannosidosis: - Genetic Testing Registry: Beta-D-mannosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co... |
information | What is (are) spondylocostal dysostosis ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformat... |
frequency | How many people are affected by spondylocostal dysostosis ? | Spondylocostal dysostosis is a rare condition, although its exact prevalence is unknown. |
genetic changes | What are the genetic changes related to spondylocostal dysostosis ? | Mutations in at least four genes are known to cause spondylocostal dysostosis: Mutations in the DLL3 gene cause spondylocostal dysostosis type 1; mutations in the MESP2 gene cause spondylocostal dysostosis type 2; mutations in the LFNG gene cause spondylocostal dysostosis type 3; and mutations in the HES7 gene cause sp... |
inheritance | Is spondylocostal dysostosis inherited ? | Spondylocostal dysostosis can have different inheritance patterns. Types 1, 2, 3, and 4 are 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 t... |
treatment | What are the treatments for spondylocostal dysostosis ? | These resources address the diagnosis or management of spondylocostal dysostosis: - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive - Genetic Testing Registry: Jarcho-Levin syndrome - Genetic Testing Registry: Spondylocostal dysostosis 1 - Genetic Testing Registry: Spondylocostal dysostosis... |
information | What is (are) biotinidase deficiency ? | Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. Profound biotinidase deficien... |
frequency | How many people are affected by biotinidase deficiency ? | Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns |
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