qtype stringclasses 16
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genetic changes | What are the genetic changes related to biotinidase deficiency ? | Mutations in the BTD gene cause biotinidase deficiency. The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (u... |
inheritance | Is biotinidase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the BTD gene in each cell have mutations. The parents of an individual with biotinidase deficiency each carry one copy of the mutated gene, but they typically do not have any health problems associated with the condition. |
treatment | What are the treatments for biotinidase deficiency ? | These resources address the diagnosis or management of biotinidase deficiency: - Baby's First Test - Gene Review: Gene Review: Biotinidase Deficiency - Genetic Testing Registry: Biotinidase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources from MedlinePlus offer information about ... |
information | What is (are) erythrokeratodermia variabilis et progressiva ? | Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is areas of hyperkeratosis, which is rough, thickened skin. These thickened patches are u... |
frequency | How many people are affected by erythrokeratodermia variabilis et progressiva ? | EKVP is a rare disorder; its prevalence is unknown. |
genetic changes | What are the genetic changes related to erythrokeratodermia variabilis et progressiva ? | EKVP can be caused by mutations in the GJB3 or GJB4 gene. These genes provide instructions for making proteins called connexin 31 and connexin 30.3, respectively. These proteins are part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. Gap junctions open and c... |
inheritance | Is erythrokeratodermia variabilis et progressiva inherited ? | EKVP is most often inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new gene mutations and occur in people with no history of the... |
treatment | What are the treatments for erythrokeratodermia variabilis et progressiva ? | These resources address the diagnosis or management of EKVP: - Genetic Testing Registry: Erythrokeratodermia variabilis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Coun... |
information | What is (are) pseudohypoaldosteronism type 1 ? | Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sw... |
frequency | How many people are affected by pseudohypoaldosteronism type 1 ? | PHA1 is a rare condition that has been estimated to affect 1 in 80,000 newborns. |
genetic changes | What are the genetic changes related to pseudohypoaldosteronism type 1 ? | Mutations in one of four different genes involved in sodium regulation cause autosomal dominant or autosomal recessive PHA1. Mutations in the NR3C2 gene cause autosomal dominant PHA1. This gene provides instructions for making the mineralocorticoid receptor protein. Mutations in the SCNN1A, SCNN1B, or SCNN1G genes caus... |
inheritance | Is pseudohypoaldosteronism type 1 inherited ? | PHA1 can have different inheritance patterns. When the condition is caused by mutations in the NR3C2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When PHA1 is caused by mutations in the SCNN1A, SCNN1B, or SCNN1G genes,... |
treatment | What are the treatments for pseudohypoaldosteronism type 1 ? | These resources address the diagnosis or management of pseudohypoaldosteronism type 1: - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal dominant - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal recessive - MedlinePlus Encyclopedia: Hyponatremia - University of Maryland Medica... |
information | What is (are) trichothiodystrophy ? | Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength. The signs and symptoms of ... |
frequency | How many people are affected by trichothiodystrophy ? | Trichothiodystrophy has an estimated incidence of about 1 in 1 million newborns in the United States and Europe. About 100 affected individuals have been reported worldwide. |
genetic changes | What are the genetic changes related to trichothiodystrophy ? | Most cases of the photosensitive form of trichothiodystrophy result from mutations in one of three genes: ERCC2, ERCC3, or GTF2H5. The proteins produced from these genes work together as part of a group of proteins called the general transcription factor IIH (TFIIH) complex. This complex is involved in the repair of DN... |
inheritance | Is trichothiodystrophy 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 trichothiodystrophy ? | These resources address the diagnosis or management of trichothiodystrophy: - Genetic Testing Registry: BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome - Genetic Testing Registry: Photosensitive trichothiodystrophy - Genetic Testing Registry: Trichothiodystrophy, nonphotosensitive 1 ... |
information | What is (are) hemophilia ? | Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous b... |
frequency | How many people are affected by hemophilia ? | The two major forms of hemophilia occur much more commonly in males than in females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide. |
genetic changes | What are the genetic changes related to hemophilia ? | Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The F8 gene provides instructions for making a protein called coagulation factor VIII. A related protein, coagulation factor IX, is produced from the F9 gene. Coagulation factors are proteins that work together i... |
inheritance | Is hemophilia inherited ? | Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are 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... |
treatment | What are the treatments for hemophilia ? | These resources address the diagnosis or management of hemophilia: - Gene Review: Gene Review: Hemophilia A - Gene Review: Gene Review: Hemophilia B - Genetic Testing Registry: HEMOPHILIA B(M) - Genetic Testing Registry: Hemophilia - Genetic Testing Registry: Hereditary factor IX deficiency disease - Genetic Test... |
information | What is (are) gnathodiaphyseal dysplasia ? | Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no appar... |
frequency | How many people are affected by gnathodiaphyseal dysplasia ? | The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought to be a rare disorder. A few affected individuals and families have been described in the medical literature. |
genetic changes | What are the genetic changes related to gnathodiaphyseal dysplasia ? | Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most ano... |
inheritance | Is gnathodiaphyseal dysplasia 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 gnathodiaphyseal dysplasia ? | These resources address the diagnosis or management of gnathodiaphyseal dysplasia: - Cleveland Clinic: Osteomyelitis - MedlinePlus Encyclopedia: Bone Mineral Density Testing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dru... |
information | What is (are) primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emp... |
frequency | How many people are affected by primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is more common in men than in women. This condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 women each year. |
genetic changes | What are the genetic changes related to primary spontaneous pneumothorax ? | Mutations in the FLCN gene can cause primary spontaneous pneumothorax, although these mutations appear to be a very rare cause of this condition. The FLCN gene provides instructions for making a protein called folliculin. In the lungs, folliculin is found in the connective tissue cells that allow the lungs to contract ... |
inheritance | Is primary spontaneous pneumothorax inherited ? | When this condition is caused by mutations in the FLCN gene, it 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, a person inherits the FLCN gene mutation from an affected parent. People who have an FLCN gene mutation... |
treatment | What are the treatments for primary spontaneous pneumothorax ? | These resources address the diagnosis or management of primary spontaneous pneumothorax: - Genetic Testing Registry: Pneumothorax, primary spontaneous - MedlinePlus Encyclopedia: Chest Tube Insertion - MedlinePlus Encyclopedia: Collapsed Lung - Merck Manual for Patients and Caregivers These resources from Medline... |
information | What is (are) hereditary paraganglioma-pheochromocytoma ? | Hereditary paraganglioma-pheochromocytoma is a condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paragangl... |
frequency | How many people are affected by hereditary paraganglioma-pheochromocytoma ? | Hereditary paraganglioma-pheochromocytoma occurs in approximately 1 in 1 million people. |
genetic changes | What are the genetic changes related to hereditary paraganglioma-pheochromocytoma ? | Mutations in at least four genes increase the risk of developing the different types of hereditary paraganglioma-pheochromocytoma. Mutations in the SDHD gene predispose an individual to hereditary paraganglioma-pheochromocytoma type 1; mutations in the SDHAF2 gene predispose to type 2; mutations in the SDHC gene predis... |
inheritance | Is hereditary paraganglioma-pheochromocytoma inherited ? | Hereditary paraganglioma-pheochromocytoma is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors. An additional mutation that deletes the normal copy of the gene is needed to cause the condition. This second mutation, ... |
treatment | What are the treatments for hereditary paraganglioma-pheochromocytoma ? | These resources address the diagnosis or management of hereditary paraganglioma-pheochromocytoma: - Gene Review: Gene Review: Hereditary Paraganglioma-Pheochromocytoma Syndromes - Genetic Testing Registry: Paragangliomas 1 - Genetic Testing Registry: Paragangliomas 2 - Genetic Testing Registry: Paragangliomas 3 - ... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) deafness and myopia syndrome ? | Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be ... |
frequency | How many people are affected by deafness and myopia syndrome ? | The prevalence of deafness and myopia syndrome is unknown. Only a few affected families have been described in the medical literature. |
genetic changes | What are the genetic changes related to deafness and myopia syndrome ? | Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit auditory signals. It also controls (regulates) the growth of the... |
inheritance | Is deafness and myopia syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for deafness and myopia syndrome ? | These resources address the diagnosis or management of deafness and myopia syndrome: - Baby's First Test: Hearing Loss - EyeSmart: Eyeglasses for Vision Correction - Gene Review: Gene Review: Deafness and Myopia Syndrome - Harvard Medical School Center for Hereditary Deafness - KidsHealth: Hearing Evaluation in Ch... |
information | What is (are) primary sclerosing cholangitis ? | Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of i... |
frequency | How many people are affected by primary sclerosing cholangitis ? | An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide. |
genetic changes | What are the genetic changes related to primary sclerosing cholangitis ? | Primary sclerosing cholangitis is thought to arise from a combination of genetic and environmental factors. Researchers believe that genetic changes play a role in this condition because it often occurs in several members of a family and because immediate family members of someone with primary sclerosing cholangitis ha... |
inheritance | Is primary sclerosing cholangitis inherited ? | The inheritance pattern of primary sclerosing cholangitis is unknown because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a risk factor for developing the disease. |
treatment | What are the treatments for primary sclerosing cholangitis ? | These resources address the diagnosis or management of primary sclerosing cholangitis: - American Liver Foundation: Primary Sclerosing Cholangitis (PSC) - Genetic Testing Registry: Primary sclerosing cholangitis - MedlinePlus Encyclopedia: Sclerosing Cholangitis - University of California San Francisco Medical Cent... |
information | What is (are) succinyl-CoA:3-ketoacid CoA transferase deficiency ? | Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats. The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected indiv... |
frequency | How many people are affected by succinyl-CoA:3-ketoacid CoA transferase deficiency ? | The prevalence of SCOT deficiency is unknown. More than 20 cases of this condition have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to succinyl-CoA:3-ketoacid CoA transferase deficiency ? | Mutations in the OXCT1 gene cause SCOT deficiency. The OXCT1 gene provides instructions for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakdown of ketones, which are an important... |
inheritance | Is succinyl-CoA:3-ketoacid CoA transferase 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 succinyl-CoA:3-ketoacid CoA transferase deficiency ? | These resources address the diagnosis or management of succinyl-CoA:3-ketoacid CoA transferase deficiency: - Genetic Testing Registry: Succinyl-CoA acetoacetate transferase deficiency - MedlinePlus Encyclopedia: Ketones--Urine - MedlinePlus Encyclopedia: Serum Ketones Test These resources from MedlinePlus offer in... |
information | What is (are) dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues. In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm patch of skin,... |
frequency | How many people are affected by dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 in 1 million people per year. |
genetic changes | What are the genetic changes related to dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the COL1A1 gene from chromosome 17 with part of the PDGFB gene from chromosome 22. The translocation is found on one or more extra ... |
inheritance | Is dermatofibrosarcoma protuberans inherited ? | Dermatofibrosarcoma protuberans results from a new mutation that occurs in the body's cells after conception and is found only in the tumor cells. This type of genetic change is called a somatic mutation and is generally not inherited. |
treatment | What are the treatments for dermatofibrosarcoma protuberans ? | These resources address the diagnosis or management of dermatofibrosarcoma protuberans: - American Cancer Society: How are Soft Tissue Sarcomas Diagnosed? - American Cancer Society: Treatment of Soft Tissue Sarcomas - Genetic Testing Registry: Dermatofibrosarcoma protuberans - National Cancer Institute: Adult Soft ... |
information | What is (are) Jervell and Lange-Nielsen syndrome ? | Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. B... |
frequency | How many people are affected by Jervell and Lange-Nielsen syndrome ? | Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, where it affects at least 1 in 200,000 people. |
genetic changes | What are the genetic changes related to Jervell and Lange-Nielsen syndrome ? | Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome. The KCNE1 and KCNQ1 genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. The movement of potassium ions... |
inheritance | Is Jervell and Lange-Nielsen syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the mutated gene. Some carriers of a KCNQ1 or KCNE1 mutation have sign... |
treatment | What are the treatments for Jervell and Lange-Nielsen syndrome ? | These resources address the diagnosis or management of Jervell and Lange-Nielsen syndrome: - Gene Review: Gene Review: Jervell and Lange-Nielsen Syndrome - Genetic Testing Registry: Jervell and Lange-Nielsen syndrome - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about t... |
information | What is (are) isolated Pierre Robin sequence ? | Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (a cleft palate). This condition is described as a "sequence" because one of its features,... |
frequency | How many people are affected by isolated Pierre Robin sequence ? | Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 people. |
genetic changes | What are the genetic changes related to isolated Pierre Robin sequence ? | Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated Pierre Robin sequence. It is likely that changes in other genes, some of which have not been identified, also cause isolated Pierre Robin sequence. The SOX9 gene provides instructions for making a protein that plays a critical role in ... |
inheritance | Is isolated Pierre Robin sequence inherited ? | Isolated Pierre Robin sequence is usually not inherited. It typically results from new genetic changes and occurs in people with no history of the disorder in their family. When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the altered DNA in each cell is sufficient to ca... |
treatment | What are the treatments for isolated Pierre Robin sequence ? | These resources address the diagnosis or management of isolated Pierre Robin sequence: - Boston Children's Hospital: Cleft Lip and Cleft Palate Treatment and Care - Genetic Testing Registry: Robin sequence - Seattle Children's Hospital: Robin Sequence Treatments These resources from MedlinePlus offer information a... |
information | What is (are) prolidase deficiency ? | Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may a... |
frequency | How many people are affected by prolidase deficiency ? | Prolidase deficiency is a rare disorder. Approximately 70 individuals with this disorder have been documented in the medical literature, and researchers have estimated that the condition occurs in approximately 1 in 1 million to 1 in 2 million newborns. It is more common in certain areas in northern Israel, both among ... |
genetic changes | What are the genetic changes related to prolidase deficiency ? | Prolidase deficiency is caused by mutations in the PEPD gene. This gene provides instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are molecules composed of two protein building blocks (amino acids). Specifically, prolidase divides dipeptides contain... |
inheritance | Is prolidase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for prolidase deficiency ? | These resources address the diagnosis or management of prolidase deficiency: - Gene Review: Gene Review: Prolidase Deficiency - Genetic Testing Registry: Prolidase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... |
information | 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... |
frequency | How many people are affected by Melnick-Needles syndrome ? | Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been reported worldwide. |
genetic changes | 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, ... |
inheritance | 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... |
treatment | 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: -... |
information | What is (are) restless legs syndrome ? | Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and... |
frequency | How many people are affected by restless legs syndrome ? | Restless legs syndrome is one of the most common sleep and movement disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent of children in the United States. For unknown reasons, the disorder affects women more often than men. The prevalence of restless legs syndrome increases with age. |
genetic changes | What are the genetic changes related to restless legs syndrome ? | Restless legs syndrome likely results from a combination of genetic and environmental factors, many of which are unknown. Studies suggest that restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. Iron is involved in several critical activities in brain cells, including th... |
inheritance | Is restless legs syndrome inherited ? | The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families hav... |
treatment | What are the treatments for restless legs syndrome ? | These resources address the diagnosis or management of restless legs syndrome: - Agency for Healthcare Research and Quality: Options for Treating Restless Legs Syndrome - Genetic Testing Registry: Restless legs syndrome, susceptibility to, 8 - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome ... |
information | What is (are) inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. Weakness first occurs in muscles of the hips and shoulders... |
frequency | How many people are affected by inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | Although the prevalence of IBMPFD is unknown, this condition is rare. It has been identified in about 26 families. |
genetic changes | What are the genetic changes related to inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | Mutations in the VCP gene cause IBMPFD. The VCP gene provides instructions for making an enzyme called valosin-containing protein, which has a wide variety of functions within cells. One of its most critical jobs is to help break down (degrade) proteins that are abnormal or no longer needed. Mutations in the VCP gene ... |
inheritance | Is inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 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 inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | These resources address the diagnosis or management of IBMPFD: - Gene Review: Gene Review: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia - Genetic Testing Registry: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia These resources from MedlinePlus... |
information | What is (are) Wolff-Parkinson-White syndrome ? | Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). The heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. A specialized cluster of cells called th... |
frequency | How many people are affected by Wolff-Parkinson-White syndrome ? | Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people worldwide. Only a small fraction of these cases appear to run in families. Wolff-Parkinson-White syndrome is a common cause of an arrhythmia known as paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is the most frequent cause of this ... |
genetic changes | What are the genetic changes related to Wolff-Parkinson-White syndrome ? | Mutations in the PRKAG2 gene cause Wolff-Parkinson-White syndrome. A small percentage of all cases of Wolff-Parkinson-White syndrome are caused by mutations in the PRKAG2 gene. Some people with these mutations also have features of hypertrophic cardiomyopathy, a form of heart disease that enlarges and weakens the hear... |
inheritance | Is Wolff-Parkinson-White syndrome inherited ? | Most cases of Wolff-Parkinson-White syndrome occur in people with no apparent family history of the condition. These cases are described as sporadic and are not inherited. Familial Wolff-Parkinson-White syndrome accounts for only a small percentage of all cases of this condition. The familial form of the disorder typi... |
treatment | What are the treatments for Wolff-Parkinson-White syndrome ? | These resources address the diagnosis or management of Wolff-Parkinson-White syndrome: - Genetic Testing Registry: Wolff-Parkinson-White pattern - MedlinePlus Encyclopedia: Wolff-Parkinson-White syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditio... |
information | What is (are) alpha thalassemia ? | Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching t... |
frequency | How many people are affected by alpha thalassemia ? | Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of infants with Hb Bart syndrome and HbH disease are born each year, particularly in Southeast Asia. Alpha thalassemia also occurs frequently in people from Mediterranean countries, North Africa, the Middle East, India, and Central Asia. |
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