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What is (are) dentinogenesis imperfecta ? | Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and p... | dentinogenesis imperfecta |
How many people are affected by dentinogenesis imperfecta ? | Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people. | dentinogenesis imperfecta |
What are the genetic changes related to dentinogenesis imperfecta ? | Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes ... | dentinogenesis imperfecta |
Is dentinogenesis imperfecta 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. | dentinogenesis imperfecta |
What are the treatments for dentinogenesis imperfecta ? | These resources address the diagnosis or management of dentinogenesis imperfecta: - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type II - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type III - MedlinePlus Encyclopedia: Tooth - abnormal colors These resources from MedlinePlus o... | dentinogenesis imperfecta |
What is (are) neutral lipid storage disease with myopathy ? | Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a we... | neutral lipid storage disease with myopathy |
How many people are affected by neutral lipid storage disease with myopathy ? | Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown. | neutral lipid storage disease with myopathy |
What are the genetic changes related to neutral lipid storage disease with myopathy ? | Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. ... | neutral lipid storage disease with myopathy |
Is neutral lipid storage disease with myopathy 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. | neutral lipid storage disease with myopathy |
What are the treatments for neutral lipid storage disease with myopathy ? | These resources address the diagnosis or management of neutral lipid storage disease with myopathy: - Genetic Testing Registry: Neutral lipid storage disease with myopathy - MedlinePlus Encyclopedia: Hypothyroidism - MedlinePlus Encyclopedia: Type 2 Diabetes These resources from MedlinePlus offer information about... | neutral lipid storage disease with myopathy |
What is (are) congenital dyserythropoietic anemia ? | Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the ... | congenital dyserythropoietic anemia |
How many people are affected by congenital dyserythropoietic anemia ? | Several hundred cases of CDA have been reported worldwide. CDA type II is the most common form of the disorder, with more than 300 reported cases. CDA type III is the rarest form; it has been described in only a few families from Sweden, Argentina, and the United States. The incidence of CDA type I is unknown. Because ... | congenital dyserythropoietic anemia |
What are the genetic changes related to congenital dyserythropoietic anemia ? | CDA type I usually results from mutations in the CDAN1 gene. Little is known about the function of this gene, and it is unclear how mutations cause the characteristic features of CDA type I. Some people with this condition do not have identified mutations in the CDAN1 gene, leading researchers to believe that mutations... | congenital dyserythropoietic anemia |
Is congenital dyserythropoietic anemia inherited ? | The inheritance pattern of CDA depends on the type of the disorder. CDA types I and II are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, ... | congenital dyserythropoietic anemia |
What are the treatments for congenital dyserythropoietic anemia ? | These resources address the diagnosis or management of CDA: - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I - Genetic Testing Registry: Congenital dyserythropoietic anemia, type II - Genetic Testing Registry: Congenital d... | congenital dyserythropoietic anemia |
What is (are) multicentric osteolysis, nodulosis, and arthropathy ? | Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called ... | multicentric osteolysis, nodulosis, and arthropathy |
How many people are affected by multicentric osteolysis, nodulosis, and arthropathy ? | MONA is rare; its prevalence is unknown. This condition has been reported in multiple populations worldwide. | multicentric osteolysis, nodulosis, and arthropathy |
What are the genetic changes related to multicentric osteolysis, nodulosis, and arthropathy ? | MONA results from mutations in the MMP2 gene. This gene provides instructions for making an enzyme called matrix metallopeptidase 2, whose primary function is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures ... | multicentric osteolysis, nodulosis, and arthropathy |
Is multicentric osteolysis, nodulosis, and arthropathy 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. | multicentric osteolysis, nodulosis, and arthropathy |
What are the treatments for multicentric osteolysis, nodulosis, and arthropathy ? | These resources address the diagnosis or management of MONA: - Genetic Testing Registry: Multicentric osteolysis, nodulosis and arthropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilita... | multicentric osteolysis, nodulosis, and arthropathy |
What is (are) very long-chain acyl-CoA dehydrogenase deficiency ? | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglyc... | very long-chain acyl-CoA dehydrogenase deficiency |
How many people are affected by very long-chain acyl-CoA dehydrogenase deficiency ? | VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people. | very long-chain acyl-CoA dehydrogenase deficiency |
What are the genetic changes related to very long-chain acyl-CoA dehydrogenase deficiency ? | Mutations in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty... | very long-chain acyl-CoA dehydrogenase deficiency |
Is very long-chain acyl-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. | very long-chain acyl-CoA dehydrogenase deficiency |
What are the treatments for very long-chain acyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of VLCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Very long chain acyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Newborn Screening Tests These ... | very long-chain acyl-CoA dehydrogenase deficiency |
What is (are) inclusion body myopathy 2 ? | Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time. The first sign of inclusion body myopathy 2 is weakness of a muscle in the... | inclusion body myopathy 2 |
How many people are affected by inclusion body myopathy 2 ? | More than 200 people with inclusion body myopathy 2 have been reported. Most are of Iranian Jewish descent; the condition affects an estimated 1 in 1,500 people in this population. Additionally, at least 15 people in the Japanese population have been diagnosed with this disorder. Inclusion body myopathy 2 has also been... | inclusion body myopathy 2 |
What are the genetic changes related to inclusion body myopathy 2 ? | Mutations in the GNE gene cause inclusion body myopathy 2. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the s... | inclusion body myopathy 2 |
Is inclusion body myopathy 2 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. | inclusion body myopathy 2 |
What are the treatments for inclusion body myopathy 2 ? | These resources address the diagnosis or management of inclusion body myopathy 2: - Gene Review: Gene Review: GNE-Related Myopathy - Genetic Testing Registry: Inclusion body myopathy 2 - Genetic Testing Registry: Nonaka myopathy These resources from MedlinePlus offer information about the diagnosis and management ... | inclusion body myopathy 2 |
What is (are) eosinophil peroxidase deficiency ? | Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or... | eosinophil peroxidase deficiency |
How many people are affected by eosinophil peroxidase deficiency ? | Approximately 100 individuals with eosinophil peroxidase deficiency have been described in the scientific literature. Based on blood test data, varying estimates of the prevalence of the condition have been reported in specific populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in 1,000 Yemenite... | eosinophil peroxidase deficiency |
What are the genetic changes related to eosinophil peroxidase deficiency ? | Mutations in the EPX gene cause eosinophil peroxidase deficiency. The EPX gene provides instructions for making the eosinophil peroxidase protein. During an immune response, activated eosinophils release eosinophil peroxidase at the site of injury. This protein helps form molecules that are highly toxic to bacteria and... | eosinophil peroxidase deficiency |
Is eosinophil peroxidase 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. | eosinophil peroxidase deficiency |
What are the treatments for eosinophil peroxidase deficiency ? | These resources address the diagnosis or management of eosinophil peroxidase deficiency: - Genetic Testing Registry: Eosinophil peroxidase deficiency - Tulane University Eosinophilic Disorder Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | eosinophil peroxidase deficiency |
What is (are) mannose-binding lectin deficiency ? | Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body sy... | mannose-binding lectin deficiency |
How many people are affected by mannose-binding lectin deficiency ? | Mannose-binding lectin deficiency is thought to affect approximately 5 to 10 percent of people worldwide; however, many affected individuals have no signs or symptoms related to low mannose-binding lectin levels. The condition is more common in certain populations, such as sub-Saharan Africans. | mannose-binding lectin deficiency |
What are the genetic changes related to mannose-binding lectin deficiency ? | Relatively common mutations in the MBL2 gene can lead to mannose-binding lectin deficiency. This gene provides instructions for making a protein that assembles into a complex called mannose-binding lectin. Functional mannose-binding lectins are made up of two to six protein groups called trimers, which are each compose... | mannose-binding lectin deficiency |
Is mannose-binding lectin deficiency inherited ? | The inheritance pattern of mannose-binding lectin deficiency is unclear. Some reports show that having a disease-associated mutation in one copy of the MBL2 gene in each cell can lead to the condition, while other reports state that a mutation in both copies of the gene is necessary. It is important to note that people... | mannose-binding lectin deficiency |
What are the treatments for mannose-binding lectin deficiency ? | These resources address the diagnosis or management of mannose-binding lectin deficiency: - Genetic Testing Registry: Mannose-binding protein deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery a... | mannose-binding lectin deficiency |
What is (are) keratoderma with woolly hair ? | Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The wool... | keratoderma with woolly hair |
How many people are affected by keratoderma with woolly hair ? | Keratoderma with woolly hair is rare; its prevalence worldwide is unknown. Type I (Naxos disease) was first described in families from the Greek island of Naxos. Since then, affected families have been found in other Greek islands, Turkey, and the Middle East. This form of the condition may affect up to 1 in 1,000 peo... | keratoderma with woolly hair |
What are the genetic changes related to keratoderma with woolly hair ? | Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. The JUP, DSP, and DSC2 genes provide instructions for making components of specialized cell structures called desmosomes. Desmosomes are located in the membrane surrounding certain cells, including skin... | keratoderma with woolly hair |
Is keratoderma with woolly hair inherited ? | Most cases of keratoderma with woolly hair have an autosomal recessive pattern of inheritance, 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 usually do not show signs and symptoms of t... | keratoderma with woolly hair |
What are the treatments for keratoderma with woolly hair ? | These resources address the diagnosis or management of keratoderma with woolly hair: - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11 ... | keratoderma with woolly hair |
What is (are) alpha-mannosidosis ? | Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded ... | alpha-mannosidosis |
How many people are affected by alpha-mannosidosis ? | Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide. | alpha-mannosidosis |
What are the genetic changes related to alpha-mannosidosis ? | Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosacch... | alpha-mannosidosis |
Is alpha-mannosidosis inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | alpha-mannosidosis |
What are the treatments for alpha-mannosidosis ? | These resources address the diagnosis or management of alpha-mannosidosis: - Gene Review: Gene Review: Alpha-Mannosidosis - Genetic Testing Registry: Deficiency of alpha-mannosidase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test... | alpha-mannosidosis |
What is (are) warfarin resistance ? | Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart v... | warfarin resistance |
How many people are affected by warfarin resistance ? | Warfarin resistance is thought to be a rare condition, although its prevalence is unknown. | warfarin resistance |
What are the genetic changes related to warfarin resistance ? | Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the VKORC1 gene account for 20 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been identified, ... | warfarin resistance |
Is warfarin resistance inherited ? | The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more t... | warfarin resistance |
What are the treatments for warfarin resistance ? | These resources address the diagnosis or management of warfarin resistance: - American Society of Hematology: Antithrombotic Therapy - MedlinePlus Drugs & Supplements: Warfarin - PharmGKB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnost... | warfarin resistance |
What is (are) X-linked sideroblastic anemia ? | X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear... | X-linked sideroblastic anemia |
How many people are affected by X-linked sideroblastic anemia ? | This form of anemia is uncommon. However, researchers believe that it may not be as rare as they once thought. Increased awareness of the disease has led to more frequent diagnoses. | X-linked sideroblastic anemia |
What are the genetic changes related to X-linked sideroblastic anemia ? | Mutations in the ALAS2 gene cause X-linked sideroblastic anemia. The ALAS2 gene provides instructions for making an enzyme called erythroid ALA-synthase, which plays a critical role in the production of heme (a component of the hemoglobin protein) in bone marrow. ALAS2 mutations impair the activity of erythroid ALA-sy... | X-linked sideroblastic anemia |
Is X-linked sideroblastic anemia 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 |
What are the treatments for X-linked sideroblastic anemia ? | These resources address the diagnosis or management of X-linked sideroblastic anemia: - Genetic Testing Registry: Hereditary sideroblastic anemia - MedlinePlus Encyclopedia: Anemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... | X-linked sideroblastic anemia |
What is (are) hereditary xanthinuria ? | Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms... | hereditary xanthinuria |
How many people are affected by hereditary xanthinuria ? | The combined incidence of hereditary xanthinuria types I and II is estimated to be about 1 in 69,000 people worldwide. However, researchers suspect that the true incidence may be higher because some affected individuals have no symptoms and are never diagnosed with the condition. Hereditary xanthinuria appears to be mo... | hereditary xanthinuria |
What are the genetic changes related to hereditary xanthinuria ? | Hereditary xanthinuria type I is caused by mutations in the XDH gene. This gene provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme is involved in the normal breakdown of purines, which are building blocks of DNA and its chemical cousin, RNA. Specifically, xanthine dehydrogenase carrie... | hereditary xanthinuria |
Is hereditary xanthinuria inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | hereditary xanthinuria |
What are the treatments for hereditary xanthinuria ? | These resources address the diagnosis or management of hereditary xanthinuria: - Genetic Testing Registry: Deficiency of xanthine oxidase - Genetic Testing Registry: Xanthinuria type 2 - MedlinePlus Encyclopedia: Uric Acid - Blood These resources from MedlinePlus offer information about the diagnosis and managemen... | hereditary xanthinuria |
What is (are) keratitis-ichthyosis-deafness syndrome ? | Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal ... | keratitis-ichthyosis-deafness syndrome |
How many people are affected by keratitis-ichthyosis-deafness syndrome ? | KID syndrome is a rare disorder. Its prevalence is unknown. Approximately 100 cases have been reported. | keratitis-ichthyosis-deafness syndrome |
What are the genetic changes related to keratitis-ichthyosis-deafness syndrome ? | KID syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, ... | keratitis-ichthyosis-deafness syndrome |
Is keratitis-ichthyosis-deafness syndrome inherited ? | KID syndrome is usually 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. However, most cases result from new mutations in the gene and occur in people w... | keratitis-ichthyosis-deafness syndrome |
What are the treatments for keratitis-ichthyosis-deafness syndrome ? | These resources address the diagnosis or management of keratitis-ichthyosis-deafness syndrome: - Genetic Testing Registry: Autosomal recessive keratitis-ichthyosis-deafness syndrome - Genetic Testing Registry: Keratitis-ichthyosis-deafness syndrome, autosomal dominant These resources from MedlinePlus offer informat... | keratitis-ichthyosis-deafness syndrome |
What is (are) Kallmann syndrome ? | Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism (HH), which is a condition affecting the production of hormones that direct sexual development. Males with hypogonadotropic hypogonadism are often born wi... | Kallmann syndrome |
How many people are affected by Kallmann syndrome ? | Kallmann syndrome is estimated to affect 1 in 10,000 to 86,000 people and occurs more often in males than in females. Kallmann syndrome 1 is the most common form of the disorder. | Kallmann syndrome |
What are the genetic changes related to Kallmann syndrome ? | Mutations in the ANOS1, FGFR1, PROKR2, and PROK2 genes cause Kallmann syndrome. ANOS1 gene mutations are responsible for Kallmann syndrome 1. Kallmann syndrome 2 results from mutations in the FGFR1 gene. Mutations in the PROKR2 and PROK2 genes cause Kallmann syndrome types 3 and 4, respectively. The genes associated w... | Kallmann syndrome |
Is Kallmann syndrome inherited ? | Kallmann syndrome 1 (caused by ANOS1 gene mutations) has an X-linked recessive pattern of inheritance. The ANOS1 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 fem... | Kallmann syndrome |
What are the treatments for Kallmann syndrome ? | These resources address the diagnosis or management of Kallmann syndrome: - Gene Review: Gene Review: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency - Genetic Testing Registry: Hypogonadism with anosmia - Genetic Testing Registry: Kallmann syndrome 1 - Genetic Testing Registry: Kallmann syndrome 2 - Gen... | Kallmann syndrome |
What is (are) centronuclear myopathy ? | Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family. People with centronuclear myopathy b... | centronuclear myopathy |
How many people are affected by centronuclear myopathy ? | Centronuclear myopathy is a rare condition; its exact prevalence is unknown. | centronuclear myopathy |
What are the genetic changes related to centronuclear myopathy ? | Centronuclear myopathy is most often caused by mutations in the DNM2, BIN1, or TTN gene. The proteins produced from the DNM2 and BIN1 genes are involved in endocytosis, a process that brings substances into the cell. The protein produced from the BIN1 gene plays an additional role in the formation of tube-like structur... | centronuclear myopathy |
Is centronuclear myopathy inherited ? | When centronuclear myopathy is caused by mutations in the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered DNM2 gene in each cell is sufficient to cause the disorder. Rarely, BIN1 gene mutations that are inherited in an autosomal dominant pattern can cause centronuclear m... | centronuclear myopathy |
What are the treatments for centronuclear myopathy ? | These resources address the diagnosis or management of centronuclear myopathy: - Genetic Testing Registry: Autosomal recessive centronuclear myopathy - Genetic Testing Registry: Myopathy, centronuclear - Genetic Testing Registry: Myopathy, centronuclear, 1 - Genetic Testing Registry: Myopathy, centronuclear, 4 - G... | centronuclear myopathy |
What is (are) glutaric acidemia type II ? | Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis). Glutaric acidemia type II usually ap... | glutaric acidemia type II |
How many people are affected by glutaric acidemia type II ? | Glutaric acidemia type II is a very rare disorder; its precise incidence is unknown. It has been reported in several different ethnic groups. | glutaric acidemia type II |
What are the genetic changes related to glutaric acidemia type II ? | Mutations in any of three genes, ETFA, ETFB, and ETFDH, can result in glutaric acidemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. The ETFDH gene provides instructions for making anoth... | glutaric acidemia type II |
Is glutaric acidemia type II 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. | glutaric acidemia type II |
What are the treatments for glutaric acidemia type II ? | These resources address the diagnosis or management of glutaric acidemia type II: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surge... | glutaric acidemia type II |
What is (are) 15q24 microdeletion ? | 15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24. 15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. Other comm... | 15q24 microdeletion |
How many people are affected by 15q24 microdeletion ? | This condition is very rare; only a few dozen affected individuals have been identified. | 15q24 microdeletion |
What are the genetic changes related to 15q24 microdeletion ? | People with a 15q24 microdeletion are missing between 1.7 million and 6.1 million DNA building blocks (base pairs), also written as 1.7-6.1 megabases (Mb), at position q24 on chromosome 15. The exact size of the deletion varies, but all individuals are missing the same 1.2 Mb region. This region contains several genes ... | 15q24 microdeletion |
Is 15q24 microdeletion inherited ? | The identified cases of 15q24 microdeletion have occurred in people with no history of the condition in their family. The chromosomal change likely occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. | 15q24 microdeletion |
What are the treatments for 15q24 microdeletion ? | These resources address the diagnosis or management of 15q24 microdeletion: - Gene Review: Gene Review: 15q24 Microdeletion - Genetic Testing Registry: 15q24 deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D... | 15q24 microdeletion |
What is (are) tubular aggregate myopathy ? | Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement. This disorder causes muscle pain, cramping, or weakness that begins in childhood and worsens over time. The muscles of the lower limbs are most often affected, although the upper limbs can... | tubular aggregate myopathy |
How many people are affected by tubular aggregate myopathy ? | Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown. | tubular aggregate myopathy |
What are the genetic changes related to tubular aggregate myopathy ? | Tubular aggregate myopathy can be caused by mutations in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell thro... | tubular aggregate myopathy |
Is tubular aggregate myopathy inherited ? | Most cases of tubular aggregate myopathy, including those caused by STIM1 gene mutations, are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation is passed through generations in a fam... | tubular aggregate myopathy |
What are the treatments for tubular aggregate myopathy ? | These resources address the diagnosis or management of tubular aggregate myopathy: - Genetic Testing Registry: Myopathy with tubular aggregates These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabi... | tubular aggregate myopathy |
What is (are) Bloom syndrome ? | Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall ... | Bloom syndrome |
How many people are affected by Bloom syndrome ? | Bloom syndrome is a rare disorder. Only a few hundred affected individuals have been described in the medical literature, about one-third of whom are of Central and Eastern European (Ashkenazi) Jewish background. | Bloom syndrome |
What are the genetic changes related to Bloom syndrome ? | Mutations in the BLM gene cause Bloom syndrome. The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for several processes in the... | Bloom syndrome |
Is Bloom 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. | Bloom syndrome |
What are the treatments for Bloom syndrome ? | These resources address the diagnosis or management of Bloom syndrome: - Gene Review: Gene Review: Bloom's Syndrome - Genetic Testing Registry: Bloom syndrome - MedlinePlus Encyclopedia: Short Stature These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... | Bloom syndrome |
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