qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
|---|---|---|
genetic changes | What are the genetic changes related to prekallikrein deficiency ? | Prekallikrein deficiency is caused by mutations in the KLKB1 gene, which provides instructions for making a protein called prekallikrein. This protein, when converted to an active form called plasma kallikrein in the blood, is involved in the early stages of blood clotting. Plasma kallikrein plays a role in a process c... |
inheritance | Is prekallikrein 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 prekallikrein deficiency ? | These resources address the diagnosis or management of prekallikrein deficiency: - Genetic Testing Registry: Prekallikrein deficiency - Massachusetts General Hospital Laboratory Handbook: Prekallikrein These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... |
information | What is (are) congenital generalized lipodystrophy ? | Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the ... |
frequency | How many people are affected by congenital generalized lipodystrophy ? | Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of... |
genetic changes | What are the genetic changes related to congenital generalized lipodystrophy ? | Mutations in the AGPAT2, BSCL2, CAV1, and PTRF genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these genes play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. Mutations in any of these genes r... |
inheritance | Is congenital generalized lipodystrophy 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 congenital generalized lipodystrophy ? | These resources address the diagnosis or management of congenital generalized lipodystrophy: - Gene Review: Gene Review: Berardinelli-Seip Congenital Lipodystrophy - Genetic Testing Registry: Berardinelli-Seip congenital lipodystrophy - MedlinePlus Encyclopedia: Hypertrophic Cardiomypathy - University of Texas Sout... |
information | What is (are) myoclonic epilepsy with ragged-red fibers ? | Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among member... |
frequency | How many people are affected by myoclonic epilepsy with ragged-red fibers ? | MERRF is a rare condition; its prevalence is unknown. MERRF is part of a group of conditions known as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide. |
genetic changes | What are the genetic changes related to myoclonic epilepsy with ragged-red fibers ? | Mutations in the MT-TK gene are the most common cause of MERRF, occurring in more than 80 percent of all cases. Less frequently, mutations in the MT-TL1, MT-TH, and MT-TS1 genes have been reported to cause the signs and symptoms of MERRF. People with mutations in the MT-TL1, MT-TH, or MT-TS1 gene typically have signs a... |
inheritance | Is myoclonic epilepsy with ragged-red fibers inherited ? | MERRF is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from t... |
treatment | What are the treatments for myoclonic epilepsy with ragged-red fibers ? | These resources address the diagnosis or management of MERRF: - Gene Review: Gene Review: MERRF - Genetic Testing Registry: Myoclonus with epilepsy with ragged red fibers - Kennedy Krieger Institute: Mitochondrial Disorders - MedlinePlus Encyclopedia: Lipoma - MedlinePlus Encyclopedia: Optic nerve atrophy - Medli... |
information | What is (are) multiminicore disease ? | Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening. Researchers have identified at least four forms of multiminicore disease, which can be distinguished by th... |
frequency | How many people are affected by multiminicore disease ? | Multiminicore disease is thought to be a rare disorder, although its incidence is unknown. |
genetic changes | What are the genetic changes related to multiminicore disease ? | Mutations in the RYR1 and SEPN1 genes cause multiminicore disease. The severe, classic form of multiminicore disease is usually caused by mutations in the SEPN1 gene. This gene provides instructions for making a protein called selenoprotein N. Although its function is unknown, researchers suspect that this protein may... |
inheritance | Is multiminicore 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 multiminicore disease ? | These resources address the diagnosis or management of multiminicore disease: - Gene Review: Gene Review: Multiminicore Disease - Genetic Testing Registry: Minicore myopathy with external ophthalmoplegia - Genetic Testing Registry: Minicore myopathy, antenatal onset, with arthrogryposis - Genetic Testing Registry: ... |
information | What is (are) episodic ataxia ? | Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches... |
frequency | How many people are affected by episodic ataxia ? | Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only types 1 and 2 have been identified in more than one family, and type 2 is by far the most common form of the condition. |
genetic changes | What are the genetic changes related to episodic ataxia ? | Episodic ataxia can be caused by mutations in several genes that play important roles in the nervous system. Three of these genes, KCNA1, CACNA1A, and CACNB4, provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical... |
inheritance | Is episodic ataxia 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 some 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 episodic ataxia ? | These resources address the diagnosis or management of episodic ataxia: - Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) - Gene Review: Gene Review: Episodic Ataxia Type 1 - Gene Review: Gene Review: Episodic Ataxia Type 2 - Genetic Testing Registry: Episodic ataxia type 1 - Genetic... |
information | What is (are) pyruvate dehydrogenase deficiency ? | Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentia... |
frequency | How many people are affected by pyruvate dehydrogenase deficiency ? | Pyruvate dehydrogenase deficiency is believed to be a rare condition; however, its prevalence is unknown. |
genetic changes | What are the genetic changes related to pyruvate dehydrogenase deficiency ? | The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. This complex plays an important role in the pathways that convert the energy from food into a form that cells can use. The pyruvate... |
inheritance | Is pyruvate dehydrogenase deficiency inherited ? | Pyruvate dehydrogenase deficiency can have different inheritance patterns. When the condition is caused by mutations in the PDHA1 gene, it is inherited in an X-linked recessive pattern. The PDHA1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one... |
treatment | What are the treatments for pyruvate dehydrogenase deficiency ? | These resources address the diagnosis or management of pyruvate dehydrogenase deficiency: - Genetic Testing Registry: Pyruvate dehydrogenase E1-beta deficiency - Genetic Testing Registry: Pyruvate dehydrogenase E2 deficiency - Genetic Testing Registry: Pyruvate dehydrogenase E3-binding protein deficiency - Genetic ... |
information | What is (are) phosphoglycerate mutase deficiency ? | Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myo... |
frequency | How many people are affected by phosphoglycerate mutase deficiency ? | Phosphoglycerate mutase deficiency is a rare condition; about 15 affected people have been reported in the medical literature. Most affected individuals have been African American. |
genetic changes | What are the genetic changes related to phosphoglycerate mutase deficiency ? | Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce e... |
inheritance | Is phosphoglycerate mutase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the PGAM2 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. However, p... |
treatment | What are the treatments for phosphoglycerate mutase deficiency ? | These resources address the diagnosis or management of phosphoglycerate mutase deficiency: - Genetic Testing Registry: Glycogen storage disease type X These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and... |
information | What is (are) Lenz microphthalmia syndrome ? | Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males. The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes. People with this condition are born with eyeballs tha... |
frequency | How many people are affected by Lenz microphthalmia syndrome ? | Lenz microphthalmia syndrome is a very rare condition; its incidence is unknown. It has been identified in only a few families worldwide. |
genetic changes | What are the genetic changes related to Lenz microphthalmia syndrome ? | Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little i... |
inheritance | Is Lenz microphthalmia syndrome 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... |
treatment | What are the treatments for Lenz microphthalmia syndrome ? | These resources address the diagnosis or management of Lenz microphthalmia syndrome: - Gene Review: Gene Review: Lenz Microphthalmia Syndrome - Genetic Testing Registry: Lenz microphthalmia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... |
information | What is (are) Prader-Willi syndrome ? | Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to c... |
frequency | How many people are affected by Prader-Willi syndrome ? | Prader-Willi syndrome affects an estimated 1 in 10,000 to 30,000 people worldwide. |
genetic changes | What are the genetic changes related to Prader-Willi syndrome ? | Prader-Willi syndrome is caused by the loss of function of genes in a particular region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activ... |
inheritance | Is Prader-Willi syndrome inherited ? | Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typi... |
treatment | What are the treatments for Prader-Willi syndrome ? | These resources address the diagnosis or management of Prader-Willi syndrome: - Gene Review: Gene Review: Prader-Willi Syndrome - Genetic Testing Registry: Prader-Willi syndrome - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Prader-Willi Syndrome These resources from MedlinePlus offer informati... |
information | What is (are) Parkinson disease ? | Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement. Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is a... |
frequency | How many people are affected by Parkinson disease ? | Parkinson disease affects more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease occurs in approximately 13 per 100,000 people, and about 60,000 new cases are identified each year. The late-onset form is the most common type of Parkinson disease, a... |
genetic changes | What are the genetic changes related to Parkinson disease ? | Most cases of Parkinson disease probably result from a complex interaction of environmental and genetic factors. These cases are classified as sporadic and occur in people with no apparent history of the disorder in their family. The cause of these sporadic cases remains unclear. Approximately 15 percent of people wit... |
inheritance | Is Parkinson disease inherited ? | Most cases of Parkinson disease occur in people with no apparent family history of the disorder. These sporadic cases may not be inherited, or they may have an inheritance pattern that is unknown. Among familial cases of Parkinson disease, the inheritance pattern differs depending on the gene that is altered. If the L... |
treatment | What are the treatments for Parkinson disease ? | These resources address the diagnosis or management of Parkinson disease: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Parkinson disease 1 - Genetic Testing Registry: Parkinson disease 10 - Genetic Testing Registry: Parkinson disease 11 - Genetic Testing Registry: Parkinson di... |
information | What is (are) alpha thalassemia X-linked intellectual disability syndrome ? | Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males. Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is signi... |
frequency | How many people are affected by alpha thalassemia X-linked intellectual disability syndrome ? | Alpha thalassemia X-linked intellectual disability syndrome appears to be a rare condition, although its exact prevalence is unknown. More than 200 affected individuals have been reported. |
genetic changes | What are the genetic changes related to alpha thalassemia X-linked intellectual disability syndrome ? | Alpha thalassemia X-linked intellectual disability syndrome results from mutations in the ATRX gene. This gene provides instructions for making a protein that plays an essential role in normal development. Although the exact function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (e... |
inheritance | Is alpha thalassemia X-linked intellectual disability syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The ATRX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one wor... |
treatment | What are the treatments for alpha thalassemia X-linked intellectual disability syndrome ? | These resources address the diagnosis or management of alpha thalassemia X-linked intellectual disability syndrome: - Gene Review: Gene Review: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome - Genetic Testing Registry: ATR-X syndrome - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclo... |
information | What is (are) atypical hemolytic-uremic syndrome ? | Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic... |
frequency | How many people are affected by atypical hemolytic-uremic syndrome ? | The incidence of atypical hemolytic-uremic syndrome is estimated to be 1 in 500,000 people per year in the United States. The atypical form is probably about 10 times less common than the typical form. |
genetic changes | What are the genetic changes related to atypical hemolytic-uremic syndrome ? | Atypical hemolytic-uremic syndrome often results from a combination of environmental and genetic factors. Mutations in at least seven genes appear to increase the risk of developing the disorder. Mutations in a gene called CFH are most common; they have been found in about 30 percent of all cases of atypical hemolytic-... |
inheritance | Is atypical hemolytic-uremic syndrome inherited ? | Most cases of atypical hemolytic-uremic syndrome are sporadic, which means that they occur in people with no apparent history of the disorder in their family. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessi... |
treatment | What are the treatments for atypical hemolytic-uremic syndrome ? | These resources address the diagnosis or management of atypical hemolytic-uremic syndrome: - Gene Review: Gene Review: Atypical Hemolytic-Uremic Syndrome - Genetic Testing Registry: Atypical hemolytic uremic syndrome - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 1 - Genetic Testing Registry: Atypic... |
information | What is (are) ALG1-congenital disorder of glycosylation ? | ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems. Individuals with ALG1-CDG often have intellectual disability, delayed deve... |
frequency | How many people are affected by ALG1-congenital disorder of glycosylation ? | ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals have been described in the scientific literature. |
genetic changes | What are the genetic changes related to ALG1-congenital disorder of glycosylation ? | Mutations in the ALG1 gene cause ALG1-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fu... |
inheritance | Is ALG1-congenital disorder of glycosylation 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 ALG1-congenital disorder of glycosylation ? | These resources address the diagnosis or management of ALG1-congenital disorder of glycosylation: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1K These resources from MedlinePlus offer information ab... |
information | What is (are) intestinal pseudo-obstruction ? | Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogen... |
frequency | How many people are affected by intestinal pseudo-obstruction ? | Primary intestinal pseudo-obstruction is a rare disorder. Its prevalence is unknown. The prevalence of secondary intestinal pseudo-obstruction is also unknown, but it is believed to be more common than the primary form. |
genetic changes | What are the genetic changes related to intestinal pseudo-obstruction ? | In some individuals with primary intestinal pseudo-obstruction, the condition is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and ... |
inheritance | Is intestinal pseudo-obstruction inherited ? | Intestinal pseudo-obstruction is often not inherited. When it does run in families, it can have different inheritance patterns. Intestinal pseudo-obstruction caused by FLNA gene mutations is inherited in an X-linked recessive pattern. The FLNA gene is located on the X chromosome, which is one of the two sex chromosome... |
treatment | What are the treatments for intestinal pseudo-obstruction ? | These resources address the diagnosis or management of intestinal pseudo-obstruction: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Intestinal pseudoobstruction neuronal chronic idiopathic X-linked - Genetic Testing Registry: Natal teeth, intestinal pseudoobstruction and patent ductus - Genetic Te... |
information | What is (are) autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is c... |
frequency | How many people are affected by autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of inherited peripheral neuropathy. This group of conditions affects an estimated 1 in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with neuromyotonia is unknown. |
genetic changes | What are the genetic changes related to autosomal recessive axonal neuropathy with neuromyotonia ? | Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1 gene. This gene provides instructions for making a protein that is involved in the function of the nervous system; however its specific role is not well understood. Laboratory studies show that the HINT1 protein has the ability... |
inheritance | Is autosomal recessive axonal neuropathy with neuromyotonia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for autosomal recessive axonal neuropathy with neuromyotonia ? | These resources address the diagnosis or management of autosomal recessive axonal neuropathy with neuromyotonia: - Genetic Testing Registry: Gamstorp-Wohlfart syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Thera... |
information | What is (are) ataxia-telangiectasia ? | Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walk... |
frequency | How many people are affected by ataxia-telangiectasia ? | Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. |
genetic changes | What are the genetic changes related to ataxia-telangiectasia ? | Mutations in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune syst... |
inheritance | Is ataxia-telangiectasia inherited ? | Ataxia-telangiectasia is inherited in an autosomal recessive pattern, which means both copies of the ATM 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. About 1... |
treatment | What are the treatments for ataxia-telangiectasia ? | These resources address the diagnosis or management of ataxia-telangiectasia: - Gene Review: Gene Review: Ataxia-Telangiectasia - Genetic Testing Registry: Ataxia-telangiectasia syndrome - MedlinePlus Encyclopedia: Ataxia-Telangiectasia These resources from MedlinePlus offer information about the diagnosis and man... |
information | What is (are) choroideremia ? | Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrea... |
frequency | How many people are affected by choroideremia ? | The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 people. However, it is likely that this condition is underdiagnosed because of its similarities to other eye disorders. Choroideremia is thought to account for approximately 4 percent of all blindness. |
genetic changes | What are the genetic changes related to choroideremia ? | Mutations in the CHM gene cause choroideremia. The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1). As an escort protein, REP-1 attaches to molecules called Rab proteins within the cell and directs them to the membranes of various cell compartments (organelles). Rab proteins are involved i... |
inheritance | Is choroideremia inherited ? | Choroideremia is inherited in an X-linked recessive pattern. The CHM gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutatio... |
treatment | What are the treatments for choroideremia ? | These resources address the diagnosis or management of choroideremia: - Gene Review: Gene Review: Choroideremia - Genetic Testing Registry: Choroideremia - MedlinePlus Encyclopedia: Vision - night blindness - MedlinePlus Encyclopedia: Visual field These resources from MedlinePlus offer information about the diagn... |
information | What is (are) pulmonary veno-occlusive disease ? | Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vessel... |
frequency | How many people are affected by pulmonary veno-occlusive disease ? | The exact prevalence of PVOD is unknown. Many cases are likely misdiagnosed as idiopathic pulmonary arterial hypertension, which is increased blood pressure in the pulmonary arteries without a known cause. Research suggests that 5 to 25 percent of people diagnosed with idiopathic pulmonary arterial hypertension have PV... |
genetic changes | What are the genetic changes related to pulmonary veno-occlusive disease ? | The primary genetic cause of PVOD is mutations in the EIF2AK4 gene. Mutations in other genes may cause a small percentage of cases. Other suspected causes of PVOD include viral infection and exposure to toxic chemicals, including certain chemotherapy drugs. The protein produced from the EIF2AK4 gene helps cells respon... |
inheritance | Is pulmonary veno-occlusive disease inherited ? | When caused by mutations in the EIF2AK4 gene, PVOD 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 symptom... |
treatment | What are the treatments for pulmonary veno-occlusive disease ? | These resources address the diagnosis or management of pulmonary veno-occlusive disease: - Genetic Testing Registry: Pulmonary veno-occlusive disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... |
information | What is (are) 3-hydroxyacyl-CoA dehydrogenase deficiency ? | 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, ... |
frequency | How many people are affected by 3-hydroxyacyl-CoA dehydrogenase deficiency ? | The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is unknown; it has been reported in only a small number of people worldwide. |
genetic changes | What are the genetic changes related to 3-hydroxyacyl-CoA dehydrogenase deficiency ? | Mutations in the HADH gene cause 3-hydroxyacyl-CoA dehydrogenase deficiency. The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert ... |
inheritance | Is 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 3-hydroxyacyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of 3-hydroxyacyl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 3-hydroxyacyl-CoA dehydrogenase - United Mitochondrial Disease Foundation: Treatments & Therapies These resources from MedlinePlus offer information about... |
information | What is (are) distal arthrogryposis type 1 ? | Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fin... |
frequency | How many people are affected by distal arthrogryposis type 1 ? | Distal arthrogryposis type 1 affects an estimated 1 in 10,000 people worldwide. |
genetic changes | What are the genetic changes related to distal arthrogryposis type 1 ? | Distal arthrogryposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1. These genes are active (expressed) in muscle cells, where they interact with other muscle proteins to help regulate the tensing of muscle fibers (muscle contraction). It is unclear how mutations in the TPM2 and MYBPC1 genes ... |
inheritance | Is distal arthrogryposis type 1 inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, a person with distal arthrogryposis type 1 has a parent and other close family members with the condition. |
treatment | What are the treatments for distal arthrogryposis type 1 ? | These resources address the diagnosis or management of distal arthrogryposis type 1: - Genetic Testing Registry: Arthrogryposis multiplex congenita distal type 1 - Merck Manual for Health Care Professionals - New York University Langone Medical Center These resources from MedlinePlus offer information about the di... |
information | What is (are) Saethre-Chotzen syndrome ? | Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the ... |
frequency | How many people are affected by Saethre-Chotzen syndrome ? | Saethre-Chotzen syndrome has an estimated prevalence of 1 in 25,000 to 50,000 people. |
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