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What is (are) familial acute myeloid leukemia with mutated CEBPA ? | Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body fro... | familial acute myeloid leukemia with mutated CEBPA |
How many people are affected by familial acute myeloid leukemia with mutated CEBPA ? | Acute myeloid leukemia occurs in approximately 3.5 in 100,000 individuals per year. Familial acute myeloid leukemia with mutated CEBPA is a very rare form of acute myeloid leukemia; only a few affected families have been identified. | familial acute myeloid leukemia with mutated CEBPA |
What are the genetic changes related to familial acute myeloid leukemia with mutated CEBPA ? | As its name suggests, familial acute myeloid leukemia with mutated CEBPA is caused by mutations in the CEBPA gene that are passed down within families. These inherited mutations are present throughout a person's life in virtually every cell in the body. The CEBPA gene provides instructions for making a protein called ... | familial acute myeloid leukemia with mutated CEBPA |
Is familial acute myeloid leukemia with mutated CEBPA inherited ? | Familial acute myeloid leukemia with mutated CEBPA is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered CEBPA gene in each cell is sufficient to cause the disorder. Most affected individuals also acquire a second, somatic CEBPA gene mutation in their leukemia ... | familial acute myeloid leukemia with mutated CEBPA |
What are the treatments for familial acute myeloid leukemia with mutated CEBPA ? | These resources address the diagnosis or management of familial acute myeloid leukemia with mutated CEBPA: - Fred Hutchison Cancer Research Center - Gene Review: Gene Review: CEBPA-Associated Familial Acute Myeloid Leukemia (AML) - Genetic Testing Registry: Acute myeloid leukemia - MedlinePlus Encyclopedia: Bone Ma... | familial acute myeloid leukemia with mutated CEBPA |
What is (are) gyrate atrophy of the choroid and retina ? | Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in... | gyrate atrophy of the choroid and retina |
How many people are affected by gyrate atrophy of the choroid and retina ? | More than 150 individuals with gyrate atrophy have been identified; approximately one third are from Finland. | gyrate atrophy of the choroid and retina |
What are the genetic changes related to gyrate atrophy of the choroid and retina ? | Mutations in the OAT gene cause gyrate atrophy. The OAT gene provides instructions for making the enzyme ornithine aminotransferase. This enzyme is active in the energy-producing centers of cells (mitochondria), where it helps break down a molecule called ornithine. Ornithine is involved in the urea cycle, which proces... | gyrate atrophy of the choroid and retina |
Is gyrate atrophy of the choroid and retina 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. | gyrate atrophy of the choroid and retina |
What are the treatments for gyrate atrophy of the choroid and retina ? | These resources address the diagnosis or management of gyrate atrophy: - Baby's First Test - Genetic Testing Registry: Ornithine aminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surg... | gyrate atrophy of the choroid and retina |
What is (are) Melnick-Needles syndrome ? | Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysp... | Melnick-Needles syndrome |
How many people are affected by Melnick-Needles syndrome ? | Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been reported worldwide. | Melnick-Needles syndrome |
What are the genetic changes related to Melnick-Needles syndrome ? | Mutations in the FLNA gene cause Melnick-Needles syndrome. The FLNA 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 move. Filamin A binds to another protein called actin, ... | Melnick-Needles syndrome |
Is Melnick-Needles syndrome inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In male... | Melnick-Needles syndrome |
What are the treatments for Melnick-Needles syndrome ? | These resources address the diagnosis or management of Melnick-Needles syndrome: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Melnick-Needles syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: -... | Melnick-Needles syndrome |
What is (are) Perrault syndrome ? | Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males a... | Perrault syndrome |
How many people are affected by Perrault syndrome ? | Perrault syndrome is a rare disorder; fewer than 100 affected individuals have been described in the medical literature. It is likely that the condition is underdiagnosed, because males without an affected sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome. | Perrault syndrome |
What are the genetic changes related to Perrault syndrome ? | Perrault syndrome has several genetic causes. C10orf2, CLPP, HARS2, LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including C10orf2, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the... | Perrault syndrome |
Is Perrault 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 do not show signs and symptoms of the condition. | Perrault syndrome |
What are the treatments for Perrault syndrome ? | These resources address the diagnosis or management of Perrault syndrome: - Gene Review: Gene Review: Perrault Syndrome - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance - Genetic Testing Registry: Perrault syndrome 2 - Genetic Testing Registry: Perrault syndr... | Perrault syndrome |
What is (are) Kleefstra syndrome ? | Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) an... | Kleefstra syndrome |
How many people are affected by Kleefstra syndrome ? | The prevalence of Kleefstra syndrome is unknown. Only recently has testing become available to distinguish it from other disorders with similar features. | Kleefstra syndrome |
What are the genetic changes related to Kleefstra syndrome ? | Kleefstra syndrome is caused by the loss of the EHMT1 gene or by mutations that disable its function. The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins th... | Kleefstra syndrome |
Is Kleefstra syndrome inherited ? | The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Most cases of Kleefstra syndrome are not inherited, however. The genetic change occurs most often as ... | Kleefstra syndrome |
What are the treatments for Kleefstra syndrome ? | These resources address the diagnosis or management of Kleefstra syndrome: - Gene Review: Gene Review: Kleefstra Syndrome - Genetic Testing Registry: Chromosome 9q deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test... | Kleefstra syndrome |
What is (are) glutamate formiminotransferase deficiency ? | Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms. People with the mild form of glutamate formiminotransferase deficiency have minor delays in physical and mental de... | glutamate formiminotransferase deficiency |
How many people are affected by glutamate formiminotransferase deficiency ? | Glutamate formiminotransferase deficiency is a rare disorder; approximately 20 affected individuals have been identified. Of these, about one-quarter have the severe form of the disorder. Everyone reported with the severe form has been of Japanese origin. The remaining individuals, who come from a variety of ethnic bac... | glutamate formiminotransferase deficiency |
What are the genetic changes related to glutamate formiminotransferase deficiency ? | Mutations in the FTCD gene cause glutamate formiminotransferase deficiency. The FTCD gene provides instructions for making the enzyme formiminotransferase cyclodeaminase. This enzyme is involved in the last two steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. It also p... | glutamate formiminotransferase deficiency |
Is glutamate formiminotransferase 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. | glutamate formiminotransferase deficiency |
What are the treatments for glutamate formiminotransferase deficiency ? | These resources address the diagnosis or management of glutamate formiminotransferase deficiency: - Baby's First Test - Genetic Testing Registry: Glutamate formiminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... | glutamate formiminotransferase deficiency |
What is (are) arterial tortuosity syndrome ? | Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract. As its name suggests, arterial tortuosity syndrome is characterized by blood vessel ab... | arterial tortuosity syndrome |
How many people are affected by arterial tortuosity syndrome ? | Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. About 100 cases have been reported in the medical literature. | arterial tortuosity syndrome |
What are the genetic changes related to arterial tortuosity syndrome ? | Arterial tortuosity syndrome is caused by mutations in the SLC2A10 gene. This gene provides instructions for making a protein called GLUT10. The level of GLUT10 appears to be involved in the regulation of a process called the transforming growth factor-beta (TGF-) signaling pathway. This pathway is involved in cell gro... | arterial tortuosity syndrome |
Is arterial tortuosity 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. | arterial tortuosity syndrome |
What are the treatments for arterial tortuosity syndrome ? | These resources address the diagnosis or management of arterial tortuosity syndrome: - Gene Review: Gene Review: Arterial Tortuosity Syndrome - Genetic Testing Registry: Arterial tortuosity syndrome - Johns Hopkins McKusick-Nathans Institute of Genetic Medicine - National Heart, Lung, and Blood Institute: How is an... | arterial tortuosity syndrome |
What is (are) hepatic lipase deficiency ? | Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs... | hepatic lipase deficiency |
How many people are affected by hepatic lipase deficiency ? | Hepatic lipase deficiency is likely a rare disorder; only a few affected families have been reported in the scientific literature. | hepatic lipase deficiency |
What are the genetic changes related to hepatic lipase deficiency ? | Hepatic lipase deficiency is caused by mutations in the LIPC gene. This gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps convert very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs... | hepatic lipase deficiency |
Is hepatic lipase 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. | hepatic lipase deficiency |
What are the treatments for hepatic lipase deficiency ? | These resources address the diagnosis or management of hepatic lipase deficiency: - Genetic Testing Registry: Hepatic lipase deficiency - MedlinePlus Encyclopedia: Cholesterol Testing and Results - MedlinePlus Encyclopedia: Triglyceride Level These resources from MedlinePlus offer information about the diagnosis a... | hepatic lipase deficiency |
What is (are) anencephaly ? | Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spin... | anencephaly |
How many people are affected by anencephaly ? | Anencephaly is one of the most common types of neural tube defect, affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end in miscarriage, so the prevalence of this condition in newborns is much lower. An estimated 1 in 10,000 infants in the United States is born with anencephaly. | anencephaly |
What are the genetic changes related to anencephaly ? | Anencephaly is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in dozens of genes in individuals with anencephaly and in their mothers may influence the risk of developing this type ... | anencephaly |
Is anencephaly inherited ? | Most cases of anencephaly are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. For parents who have had a child with anencephaly, the risk of... | anencephaly |
What are the treatments for anencephaly ? | These resources address the diagnosis or management of anencephaly: - Children's Hospital of Philadelphia - Genetic Testing Registry: Anencephalus - Genetic Testing Registry: Neural tube defect - Genetic Testing Registry: Neural tube defects, folate-sensitive These resources from MedlinePlus offer information abo... | anencephaly |
What is (are) leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that tr... | leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation |
How many people are affected by leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | LBSL is a rare condition. Its exact prevalence is not known. | leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation |
What are the genetic changes related to leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | LBSL is caused by mutations in the DARS2 gene, which provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesi... | leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation |
Is leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation inherited ? | LBSL is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In this condition, each copy of the gene carries a different mutation (compound heterozygous mutations). An affected individual never has the same mutation in both copies of the gene (a homozygous mutat... | leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation |
What are the treatments for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? | These resources address the diagnosis or management of LBSL: - Gene Review: Gene Review: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Genetic Testing Registry: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation These resources from Medline... | leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation |
What is (are) autoimmune lymphoproliferative syndrome ? | Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in en... | autoimmune lymphoproliferative syndrome |
How many people are affected by autoimmune lymphoproliferative syndrome ? | ALPS is a rare disorder; its prevalence is unknown. More than 200 affected individuals have been identified worldwide. | autoimmune lymphoproliferative syndrome |
What are the genetic changes related to autoimmune lymphoproliferative syndrome ? | Mutations in the FAS gene cause ALPS in approximately 75 percent of affected individuals. The FAS gene provides instructions for making a protein involved in cell signaling that results in the self-destruction of cells (apoptosis). When the immune system is turned on (activated) to fight an infection, large numbers of... | autoimmune lymphoproliferative syndrome |
Is autoimmune lymphoproliferative syndrome inherited ? | In most people with ALPS, including the majority of those with FAS gene mutations, 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 these cases, an affected person usually inherits the mutation from one affected pa... | autoimmune lymphoproliferative syndrome |
What are the treatments for autoimmune lymphoproliferative syndrome ? | These resources address the diagnosis or management of ALPS: - Gene Review: Gene Review: Autoimmune Lymphoproliferative Syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome type 1, autosomal recessive - Genetic Testing Regis... | autoimmune lymphoproliferative syndrome |
What is (are) progressive external ophthalmoplegia ? | Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness... | progressive external ophthalmoplegia |
How many people are affected by progressive external ophthalmoplegia ? | The prevalence of progressive external ophthalmoplegia is unknown. | progressive external ophthalmoplegia |
What are the genetic changes related to progressive external ophthalmoplegia ? | Progressive external ophthalmoplegia is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear D... | progressive external ophthalmoplegia |
Is progressive external ophthalmoplegia inherited ? | Progressive external ophthalmoplegia can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in the MT-TL1 gene, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in ... | progressive external ophthalmoplegia |
What are the treatments for progressive external ophthalmoplegia ? | These resources address the diagnosis or management of progressive external ophthalmoplegia: - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA d... | progressive external ophthalmoplegia |
What is (are) glycogen storage disease type IV ? | Glycogen storage disease type IV (GSD IV) 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. There are five types of GSD IV, whi... | glycogen storage disease type IV |
How many people are affected by glycogen storage disease type IV ? | GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen storage disease. | glycogen storage disease type IV |
What are the genetic changes related to glycogen storage disease type IV ? | Mutations in the GBE1 gene cause GSD IV. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of glycogen, which is a major source of stored energy in the body. GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branch... | glycogen storage disease type IV |
Is glycogen storage disease type IV 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 IV |
What are the treatments for glycogen storage disease type IV ? | These resources address the diagnosis or management of glycogen storage disease type IV: - Gene Review: Gene Review: Glycogen Storage Disease Type IV - Genetic Testing Registry: Glycogen storage disease, type IV - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Failure to Thrive These... | glycogen storage disease type IV |
What is (are) cherubism ? | Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance a... | cherubism |
How many people are affected by cherubism ? | The incidence of cherubism is unknown. At least 250 cases have been reported worldwide. | cherubism |
What are the genetic changes related to cherubism ? | Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown. The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. The protein plays a role in transmitting chemical si... | cherubism |
Is cherubism 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. | cherubism |
What are the treatments for cherubism ? | These resources address the diagnosis or management of cherubism: - Gene Review: Gene Review: Cherubism - Genetic Testing Registry: Fibrous dysplasia of jaw These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surg... | cherubism |
What is (are) Crouzonodermoskeletal syndrome ? | Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syn... | Crouzonodermoskeletal syndrome |
How many people are affected by Crouzonodermoskeletal syndrome ? | Crouzonodermoskeletal syndrome is rare; this condition is seen in about 1 person per million. | Crouzonodermoskeletal syndrome |
What are the genetic changes related to Crouzonodermoskeletal syndrome ? | Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. It remains unclear how a mutation in the FGFR3 gene leads to the characteristic features of Crouzonodermoskeletal syn... | Crouzonodermoskeletal syndrome |
Is Crouzonodermoskeletal syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. More commonly, this condition results from new mutations in the gene. These cases oc... | Crouzonodermoskeletal syndrome |
What are the treatments for Crouzonodermoskeletal syndrome ? | These resources address the diagnosis or management of Crouzonodermoskeletal syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome with acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Craniosynosto... | Crouzonodermoskeletal syndrome |
What is (are) McLeod neuroacanthocytosis syndrome ? | McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men. This disorder affects movement in many parts of the body. People with McLeod neuroacanthocytosis syndrome also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a g... | McLeod neuroacanthocytosis syndrome |
How many people are affected by McLeod neuroacanthocytosis syndrome ? | McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have been reported worldwide. | McLeod neuroacanthocytosis syndrome |
What are the genetic changes related to McLeod neuroacanthocytosis syndrome ? | Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain,... | McLeod neuroacanthocytosis syndrome |
Is McLeod neuroacanthocytosis syndrome inherited ? | McLeod neuroacanthocytosis syndrome 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. I... | McLeod neuroacanthocytosis syndrome |
What are the treatments for McLeod neuroacanthocytosis syndrome ? | These resources address the diagnosis or management of McLeod neuroacanthocytosis syndrome: - Gene Review: Gene Review: McLeod Neuroacanthocytosis Syndrome - Genetic Testing Registry: McLeod neuroacanthocytosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various... | McLeod neuroacanthocytosis syndrome |
What is (are) GRACILE syndrome ? | GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newbo... | GRACILE syndrome |
How many people are affected by GRACILE syndrome ? | GRACILE syndrome is found almost exclusively in Finland, where it is estimated to affect 1 in 47,000 infants. At least 32 affected infants have been described in the medical literature. | GRACILE syndrome |
What are the genetic changes related to GRACILE syndrome ? | GRACILE syndrome is caused by a mutation in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process t... | GRACILE syndrome |
Is GRACILE 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. | GRACILE syndrome |
What are the treatments for GRACILE syndrome ? | These resources address the diagnosis or management of GRACILE syndrome: - Genetic Testing Registry: GRACILE syndrome - MedlinePlus Encyclopedia: Aminoaciduria - MedlinePlus Encyclopedia: Cholestasis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... | GRACILE syndrome |
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... | pulmonary veno-occlusive disease |
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... | pulmonary veno-occlusive disease |
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... | pulmonary veno-occlusive disease |
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... | pulmonary veno-occlusive disease |
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 ... | pulmonary veno-occlusive disease |
What is (are) paroxysmal extreme pain disorder ? | Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last secon... | paroxysmal extreme pain disorder |
How many people are affected by paroxysmal extreme pain disorder ? | Paroxysmal extreme pain disorder is a rare condition; approximately 80 affected individuals have been described in the scientific literature. | paroxysmal extreme pain disorder |
What are the genetic changes related to paroxysmal extreme pain disorder ? | Mutations in the SCN9A gene cause paroxysmal extreme pain disorder. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and t... | paroxysmal extreme pain disorder |
Is paroxysmal extreme pain disorder 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. | paroxysmal extreme pain disorder |
What are the treatments for paroxysmal extreme pain disorder ? | These resources address the diagnosis or management of paroxysmal extreme pain disorder: - Genetic Testing Registry: Paroxysmal extreme pain disorder These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... | paroxysmal extreme pain disorder |
What is (are) Denys-Drash syndrome ? | Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Denys-Drash syndrome is characterized by kidney disease that begins within the first few months of life. Affected individuals have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are the ti... | Denys-Drash syndrome |
How many people are affected by Denys-Drash syndrome ? | The prevalence of Denys-Drash syndrome is unknown; at least 150 affected individuals have been reported in the scientific literature. | Denys-Drash syndrome |
What are the genetic changes related to Denys-Drash syndrome ? | Mutations in the WT1 gene cause Denys-Drash syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the d... | Denys-Drash syndrome |
Is Denys-Drash 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. | Denys-Drash syndrome |
What are the treatments for Denys-Drash syndrome ? | These resources address the diagnosis or management of Denys-Drash syndrome: - Gene Review: Gene Review: Wilms Tumor Overview - Genetic Testing Registry: Drash syndrome - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various he... | Denys-Drash syndrome |
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