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What is (are) sialidosis ? | Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is ... | sialidosis |
How many people are affected by sialidosis ? | The overall prevalence of sialidosis is unknown. Sialidosis type I appears to be more common in people with Italian ancestry. | sialidosis |
What are the genetic changes related to sialidosis ? | Mutations in the NEU1 gene cause sialidosis. This gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within the cell that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules attached to ce... | sialidosis |
Is sialidosis 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. | sialidosis |
What are the treatments for sialidosis ? | These resources address the diagnosis or management of sialidosis: - Genetic Testing Registry: Sialidosis type I - Genetic Testing Registry: Sialidosis, type II - MedlinePlus Encyclopedia: Ascites - MedlinePlus Encyclopedia: Hydrops Fetalis These resources from MedlinePlus offer information about the diagnosis an... | sialidosis |
What is (are) Coffin-Siris syndrome ? | Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. Most affected individuals have mild to sever... | Coffin-Siris syndrome |
How many people are affected by Coffin-Siris syndrome ? | Coffin-Siris syndrome is a rare condition that is diagnosed in females more frequently than in males. Approximately 140 cases have been reported in the medical literature. | Coffin-Siris syndrome |
What are the genetic changes related to Coffin-Siris syndrome ? | Coffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Each of these genes provides instructions for making one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling... | Coffin-Siris syndrome |
Is Coffin-Siris syndrome inherited ? | Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, the condition is not usually inherited from an affected parent, but occurs from new (de novo) mutations in the gene that likely occur ... | Coffin-Siris syndrome |
What are the treatments for Coffin-Siris syndrome ? | These resources address the diagnosis or management of Coffin-Siris syndrome: - Gene Review: Gene Review: Coffin-Siris Syndrome - Genetic Testing Registry: Coffin-Siris syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... | Coffin-Siris syndrome |
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... | Pompe disease |
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. | Pompe disease |
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... | Pompe disease |
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. | Pompe disease |
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... | Pompe disease |
What is (are) dentatorubral-pallidoluysian atrophy ? | Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood. The sig... | dentatorubral-pallidoluysian atrophy |
How many people are affected by dentatorubral-pallidoluysian atrophy ? | DRPLA is most common in the Japanese population, where it has an estimated incidence of 2 to 7 per million people. This condition has also been seen in families from North America and Europe. Although DRPLA is rare in the United States, it has been studied in a large African American family from the Haw River area of ... | dentatorubral-pallidoluysian atrophy |
What are the genetic changes related to dentatorubral-pallidoluysian atrophy ? | DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN1 mutation that underlies DRPLA involves a DNA segment kn... | dentatorubral-pallidoluysian atrophy |
Is dentatorubral-pallidoluysian atrophy 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 has one parent with the condition. As the altered ATN1 gene is passed from one generation to the next, the size of the CAG trinucleo... | dentatorubral-pallidoluysian atrophy |
What are the treatments for dentatorubral-pallidoluysian atrophy ? | These resources address the diagnosis or management of DRPLA: - Gene Review: Gene Review: DRPLA - Genetic Testing Registry: Dentatorubral pallidoluysian atrophy - MedlinePlus Encyclopedia: Dementia - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and mana... | dentatorubral-pallidoluysian atrophy |
What is (are) X-linked sideroblastic anemia and ataxia ? | X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males. Sideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin, which i... | X-linked sideroblastic anemia and ataxia |
How many people are affected by X-linked sideroblastic anemia and ataxia ? | X-linked sideroblastic anemia and ataxia is a rare disorder; only a few affected families have been reported. | X-linked sideroblastic anemia and ataxia |
What are the genetic changes related to X-linked sideroblastic anemia and ataxia ? | Mutations in the ABCB7 gene cause X-linked sideroblastic anemia and ataxia. The ABCB7 gene provides instructions for making a protein that is critical for heme production. Heme is a component of the hemoglobin protein, which is vital for supplying oxygen to the entire body. The ABCB7 protein also plays a role in the fo... | X-linked sideroblastic anemia and ataxia |
Is X-linked sideroblastic anemia and ataxia inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | X-linked sideroblastic anemia and ataxia |
What are the treatments for X-linked sideroblastic anemia and ataxia ? | These resources address the diagnosis or management of X-linked sideroblastic anemia and ataxia: - Gene Review: Gene Review: X-Linked Sideroblastic Anemia and Ataxia - Genetic Testing Registry: Anemia sideroblastic and spinocerebellar ataxia - MedlinePlus Encyclopedia: Anemia These resources from MedlinePlus offer... | X-linked sideroblastic anemia and ataxia |
What is (are) hypercholesterolemia ? | Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to bui... | hypercholesterolemia |
How many people are affected by hypercholesterolemia ? | More than 34 million American adults have elevated blood cholesterol levels (higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause even higher levels of cholesterol, occur less frequently. The most common inherited form of high cholesterol is called familial hypercholesterolemia. This condition a... | hypercholesterolemia |
What are the genetic changes related to hypercholesterolemia ? | Mutations in the APOB, LDLR, LDLRAP1, and PCSK9 genes cause hypercholesterolemia. High blood cholesterol levels typically result from a combination of genetic and environmental risk factors. Lifestyle choices including diet, exercise, and tobacco smoking strongly influence the amount of cholesterol in the blood. Addit... | hypercholesterolemia |
Is hypercholesterolemia inherited ? | Most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. Inherited forms of hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inherita... | hypercholesterolemia |
What are the treatments for hypercholesterolemia ? | These resources address the diagnosis or management of hypercholesterolemia: - Gene Review: Gene Review: Familial Hypercholesterolemia - GeneFacts: Familial Hypercholesterolemia: Diagnosis - GeneFacts: Familial Hypercholesterolemia: Management - Genetic Testing Registry: Familial hypercholesterolemia - Genetic Tes... | hypercholesterolemia |
What is (are) glycogen storage disease type III ? | Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. GSD... | glycogen storage disease type III |
How many people are affected by glycogen storage disease type III ? | The incidence of GSDIII in the United States is 1 in 100,000 individuals. This condition is seen more frequently in people of North African Jewish ancestry; in this population, 1 in 5,400 individuals are estimated to be affected. GSDIIIa is the most common form of GSDIII, accounting for about 85 percent of all cases. ... | glycogen storage disease type III |
What are the genetic changes related to glycogen storage disease type III ? | Mutations in the AGL gene cause GSDIII. The AGL gene provides instructions for making the glycogen debranching enzyme. This enzyme is involved in the breakdown of glycogen, which is a major source of stored energy in the body. Between meals the body breaks down stores of energy, such as glycogen, to use for fuel. Most... | glycogen storage disease type III |
Is glycogen storage disease type III 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. | glycogen storage disease type III |
What are the treatments for glycogen storage disease type III ? | These resources address the diagnosis or management of glycogen storage disease type III: - Gene Review: Gene Review: Glycogen Storage Disease Type III - Genetic Testing Registry: Glycogen storage disease type III These resources from MedlinePlus offer information about the diagnosis and management of various healt... | glycogen storage disease type III |
What is (are) tetrasomy 18p ? | Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. Howeve... | tetrasomy 18p |
How many people are affected by tetrasomy 18p ? | Tetrasomy 18p is a rare disorder. It is known to affect about 250 families worldwide. | tetrasomy 18p |
What are the genetic changes related to tetrasomy 18p ? | Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 18p is a ve... | tetrasomy 18p |
Is tetrasomy 18p inherited ? | Tetrasomy 18p is usually not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Most affected individuals have no history of the disorder in their family.... | tetrasomy 18p |
What are the treatments for tetrasomy 18p ? | These resources address the diagnosis or management of tetrasomy 18p: - Chromosome 18 Clinical Research Center, University of Texas Health Science Center at San Antonio - Genetic Testing Registry: Chromosome 18, tetrasomy 18p These resources from MedlinePlus offer information about the diagnosis and management of v... | tetrasomy 18p |
What is (are) heterotaxy syndrome ? | Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, live... | heterotaxy syndrome |
How many people are affected by heterotaxy syndrome ? | The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people worldwide. However, researchers suspect that the condition is underdiagnosed, and so it may actually be more common than this. Heterotaxy syndrome accounts for approximately 3 percent of all congenital heart defects. For reasons that are unknow... | heterotaxy syndrome |
What are the genetic changes related to heterotaxy syndrome ? | Heterotaxy syndrome can be caused by mutations in many different genes. The proteins produced from most of these genes play roles in determining which structures should be on the right side of the body and which should be on the left, a process known as establishing left-right asymmetry. This process occurs during the ... | heterotaxy syndrome |
Is heterotaxy syndrome inherited ? | Most often, heterotaxy syndrome is sporadic, meaning that only one person in a family is affected. However, about 10 percent of people with heterotaxy syndrome have a close relative (such as a parent or sibling) who has a congenital heart defect without other apparent features of heterotaxy syndrome. Isolated congenita... | heterotaxy syndrome |
What are the treatments for heterotaxy syndrome ? | These resources address the diagnosis or management of heterotaxy syndrome: - Boston Children's Hospital: Tests for Heterotaxy Syndrome - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Atrioventricular septal defect, partial, with heterotaxy syndrome - Genetic Testing Registry: Het... | heterotaxy syndrome |
What is (are) Niemann-Pick disease ? | Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition. In... | Niemann-Pick disease |
How many people are affected by Niemann-Pick disease ? | Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 i... | Niemann-Pick disease |
What are the genetic changes related to Niemann-Pick disease ? | Niemann-Pick disease types A and B is caused by mutations in the SMPD1 gene. This gene provides instructions for producing an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Acid sphingomyelinase is res... | Niemann-Pick disease |
Is Niemann-Pick 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. | Niemann-Pick disease |
What are the treatments for Niemann-Pick disease ? | These resources address the diagnosis or management of Niemann-Pick disease: - Baby's First Test - Gene Review: Gene Review: Acid Sphingomyelinase Deficiency - Gene Review: Gene Review: Niemann-Pick Disease Type C - Genetic Testing Registry: Niemann-Pick disease type C1 - Genetic Testing Registry: Niemann-Pick dis... | Niemann-Pick disease |
What is (are) Emanuel syndrome ? | Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individ... | Emanuel syndrome |
How many people are affected by Emanuel syndrome ? | Emanuel syndrome is a rare disorder; its prevalence is unknown. More than 100 individuals with this condition have been reported. | Emanuel syndrome |
What are the genetic changes related to Emanuel syndrome ? | Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra ch... | Emanuel syndrome |
Is Emanuel syndrome inherited ? | Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not ca... | Emanuel syndrome |
What are the treatments for Emanuel syndrome ? | These resources address the diagnosis or management of Emanuel syndrome: - Gene Review: Gene Review: Emanuel Syndrome - Genetic Testing Registry: Emanuel syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Microcephaly - MedlinePlus Encyclopedia: Preauricular Tag or Pit These re... | Emanuel syndrome |
What is (are) actin-accumulation myopathy ? | Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in ... | actin-accumulation myopathy |
How many people are affected by actin-accumulation myopathy ? | Actin-accumulation myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown. | actin-accumulation myopathy |
What are the genetic changes related to actin-accumulation myopathy ? | Actin-accumulation myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is a member of the actin protein family found in skeletal muscles. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle con... | actin-accumulation myopathy |
Is actin-accumulation myopathy inherited ? | Actin-accumulation myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family. | actin-accumulation myopathy |
What are the treatments for actin-accumulation myopathy ? | These resources address the diagnosis or management of actin-accumulation myopathy: - Genetic Testing Registry: Nemaline myopathy 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... | actin-accumulation myopathy |
What is (are) tarsal-carpal coalition syndrome ? | Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immo... | tarsal-carpal coalition syndrome |
How many people are affected by tarsal-carpal coalition syndrome ? | This condition is very rare; however, the exact prevalence is unknown. | tarsal-carpal coalition syndrome |
What are the genetic changes related to tarsal-carpal coalition syndrome ? | Tarsal-carpal coalition syndrome is caused by mutations in the NOG gene, which provides instructions for making a protein called noggin. This protein plays an important role in proper bone and joint development by blocking (inhibiting) signals that stimulate bone formation. The noggin protein attaches (binds) to protei... | tarsal-carpal coalition syndrome |
Is tarsal-carpal coalition 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. | tarsal-carpal coalition syndrome |
What are the treatments for tarsal-carpal coalition syndrome ? | These resources address the diagnosis or management of tarsal-carpal coalition syndrome: - Foot Health Facts: Tarsal Coalition - Genetic Testing Registry: Tarsal carpal coalition syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... | tarsal-carpal coalition syndrome |
What is (are) carbamoyl phosphate synthetase I deficiency ? | Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia. In the fi... | carbamoyl phosphate synthetase I deficiency |
How many people are affected by carbamoyl phosphate synthetase I deficiency ? | Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall incidence is unknown. Researchers in Japan have estimated that it occurs in 1 in 800,000 newborns in that country. | carbamoyl phosphate synthetase I deficiency |
What are the genetic changes related to carbamoyl phosphate synthetase I deficiency ? | Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. The CPS1 gene provides instructions for making the enzyme carbamoyl phosphate synthetase I. This enzyme participates in the urea cycle, which is a sequence of biochemical reactions that occurs in liver cells. The urea cycle processes excess n... | carbamoyl phosphate synthetase I deficiency |
Is carbamoyl phosphate synthetase I 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. | carbamoyl phosphate synthetase I deficiency |
What are the treatments for carbamoyl phosphate synthetase I deficiency ? | These resources address the diagnosis or management of carbamoyl phosphate synthetase I deficiency: - Baby's First Test - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Congenital hyperammonemia, type I - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resour... | carbamoyl phosphate synthetase I deficiency |
What is (are) Camurati-Engelmann disease ? | Camurati-Engelmann disease is a condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk,... | Camurati-Engelmann disease |
How many people are affected by Camurati-Engelmann disease ? | The prevalence of Camurati-Engelmann disease is unknown. Approximately 200 cases have been reported worldwide. | Camurati-Engelmann disease |
What are the genetic changes related to Camurati-Engelmann disease ? | Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions... | Camurati-Engelmann disease |
Is Camurati-Engelmann 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. | Camurati-Engelmann disease |
What are the treatments for Camurati-Engelmann disease ? | These resources address the diagnosis or management of Camurati-Engelmann disease: - Gene Review: Gene Review: Camurati-Engelmann Disease - Genetic Testing Registry: Diaphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... | Camurati-Engelmann disease |
What is (are) prolidase deficiency ? | Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may a... | prolidase deficiency |
How many people are affected by prolidase deficiency ? | Prolidase deficiency is a rare disorder. Approximately 70 individuals with this disorder have been documented in the medical literature, and researchers have estimated that the condition occurs in approximately 1 in 1 million to 1 in 2 million newborns. It is more common in certain areas in northern Israel, both among ... | prolidase deficiency |
What are the genetic changes related to prolidase deficiency ? | Prolidase deficiency is caused by mutations in the PEPD gene. This gene provides instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are molecules composed of two protein building blocks (amino acids). Specifically, prolidase divides dipeptides contain... | prolidase deficiency |
Is prolidase 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. | prolidase deficiency |
What are the treatments for prolidase deficiency ? | These resources address the diagnosis or management of prolidase deficiency: - Gene Review: Gene Review: Prolidase Deficiency - Genetic Testing Registry: Prolidase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... | prolidase deficiency |
What is (are) childhood myocerebrohepatopathy spectrum ? | Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few mo... | childhood myocerebrohepatopathy spectrum |
How many people are affected by childhood myocerebrohepatopathy spectrum ? | The prevalence of childhood myocerebrohepatopathy spectrum is unknown. | childhood myocerebrohepatopathy spectrum |
What are the genetic changes related to childhood myocerebrohepatopathy spectrum ? | MCHS is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria eac... | childhood myocerebrohepatopathy spectrum |
Is childhood myocerebrohepatopathy spectrum 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. | childhood myocerebrohepatopathy spectrum |
What are the treatments for childhood myocerebrohepatopathy spectrum ? | These resources address the diagnosis or management of MCHS: - Gene Review: Gene Review: POLG-Related Disorders - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos... | childhood myocerebrohepatopathy spectrum |
What is (are) familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers... | familial paroxysmal kinesigenic dyskinesia |
How many people are affected by familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in 150,000 individuals. For unknown reasons, this condition affects more males than females. | familial paroxysmal kinesigenic dyskinesia |
What are the genetic changes related to familial paroxysmal kinesigenic dyskinesia ? | Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control ... | familial paroxysmal kinesigenic dyskinesia |
Is familial paroxysmal kinesigenic dyskinesia inherited ? | This condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. | familial paroxysmal kinesigenic dyskinesia |
What are the treatments for familial paroxysmal kinesigenic dyskinesia ? | These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia - Genetic Testing Registry: Dystonia 10 These resources from MedlinePlus offer information about the diagnosis and management of various health co... | familial paroxysmal kinesigenic dyskinesia |
What is (are) multiple cutaneous and mucosal venous malformations ? | Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformation... | multiple cutaneous and mucosal venous malformations |
How many people are affected by multiple cutaneous and mucosal venous malformations ? | VMCM appears to be a rare disorder, although its prevalence is unknown. | multiple cutaneous and mucosal venous malformations |
What are the genetic changes related to multiple cutaneous and mucosal venous malformations ? | Mutations in the TEK gene (also called the TIE2 gene) cause VMCM. The TEK gene provides instructions for making a protein called TEK receptor tyrosine kinase. This receptor protein triggers chemical signals needed for forming blood vessels (angiogenesis) and maintaining their structure. This signaling process facilitat... | multiple cutaneous and mucosal venous malformations |
Is multiple cutaneous and mucosal venous malformations inherited ? | VMCM is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing venous malformations. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are... | multiple cutaneous and mucosal venous malformations |
What are the treatments for multiple cutaneous and mucosal venous malformations ? | These resources address the diagnosis or management of VMCM: - Gene Review: Gene Review: Multiple Cutaneous and Mucosal Venous Malformations - Genetic Testing Registry: Multiple Cutaneous and Mucosal Venous Malformations These resources from MedlinePlus offer information about the diagnosis and management of variou... | multiple cutaneous and mucosal venous malformations |
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... | isodicentric chromosome 15 syndrome |
How many people are affected by isodicentric chromosome 15 syndrome ? | Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns. | isodicentric chromosome 15 syndrome |
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... | isodicentric chromosome 15 syndrome |
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. | isodicentric chromosome 15 syndrome |
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 - ... | isodicentric chromosome 15 syndrome |
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