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What is (are) progressive pseudorheumatoid dysplasia ? | Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints ... | progressive pseudorheumatoid dysplasia |
How many people are affected by progressive pseudorheumatoid dysplasia ? | PPRD has been estimated to occur in approximately 1 per million people in the United Kingdom. The condition is thought to be more common in Turkey and the Middle East, although its prevalence in these regions is unknown. The condition in all regions is likely underdiagnosed because it is often misdiagnosed as juvenile ... | progressive pseudorheumatoid dysplasia |
What are the genetic changes related to progressive pseudorheumatoid dysplasia ? | PPRD is caused by mutations in the WISP3 gene. The function of the protein produced from this gene is not well understood, although it is thought to play a role in bone growth and cartilage maintenance. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage. This protein is associa... | progressive pseudorheumatoid dysplasia |
Is progressive pseudorheumatoid dysplasia 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. | progressive pseudorheumatoid dysplasia |
What are the treatments for progressive pseudorheumatoid dysplasia ? | These resources address the diagnosis or management of progressive pseudorheumatoid dysplasia: - Cedars-Sinai: Skeletal Dysplasias - Gene Review: Gene Review: Progressive Pseudorheumatoid Dysplasia - Genetic Testing Registry: Progressive pseudorheumatoid dysplasia These resources from MedlinePlus offer information... | progressive pseudorheumatoid dysplasia |
What is (are) juvenile hyaline fibromatosis ? | Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and bones. Individuals with this condition typically begin to develop signs and symptoms within the first few years of life. Juvenile hyaline fibromatosis is characterized by skin bumps that frequently appear on the hands, neck, scalp, ears, and... | juvenile hyaline fibromatosis |
How many people are affected by juvenile hyaline fibromatosis ? | The prevalence of juvenile hyaline fibromatosis is unknown. About 70 people with this disorder have been reported. | juvenile hyaline fibromatosis |
What are the genetic changes related to juvenile hyaline fibromatosis ? | Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause juvenile hyaline fibromatosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basemen... | juvenile hyaline fibromatosis |
Is juvenile hyaline fibromatosis 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. | juvenile hyaline fibromatosis |
What are the treatments for juvenile hyaline fibromatosis ? | These resources address the diagnosis or management of juvenile hyaline fibromatosis: - Gene Review: Gene Review: Hyalinosis, Inherited Systemic - Genetic Testing Registry: Hyaline fibromatosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health condition... | juvenile hyaline fibromatosis |
What is (are) succinate-CoA ligase deficiency ? | Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. Severe hypotonia delays the development of motor skills s... | succinate-CoA ligase deficiency |
How many people are affected by succinate-CoA ligase deficiency ? | Although the exact prevalence of succinate-CoA ligase deficiency is unknown, it appears to be very rare. This condition occurs more frequently among people from the Faroe Islands in the North Atlantic Ocean. | succinate-CoA ligase deficiency |
What are the genetic changes related to succinate-CoA ligase deficiency ? | Succinate-CoA ligase deficiency results from mutations in the SUCLA2 or SUCLG1 gene. SUCLG1 gene mutations can cause fatal infantile lactic acidosis, while mutations in either gene can cause the somewhat less severe form of the condition. The SUCLA2 and SUCLG1 genes each provide instructions for making one part (subun... | succinate-CoA ligase deficiency |
Is succinate-CoA ligase 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. | succinate-CoA ligase deficiency |
What are the treatments for succinate-CoA ligase deficiency ? | These resources address the diagnosis or management of succinate-CoA ligase deficiency: - Gene Review: Gene Review: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with... | succinate-CoA ligase deficiency |
What is (are) lymphangioleiomyomatosis ? | Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. LAM is found almost exclusively in women. It usually occurs as a feature of an inherited sy... | lymphangioleiomyomatosis |
How many people are affected by lymphangioleiomyomatosis ? | Sporadic LAM is estimated to occur in 2 to 5 per million women worldwide. This condition may be underdiagnosed because its symptoms are similar to those of other lung disorders such as asthma, bronchitis, and chronic obstructive pulmonary disease. | lymphangioleiomyomatosis |
What are the genetic changes related to lymphangioleiomyomatosis ? | Mutations in the TSC1 gene or, more commonly, the TSC2 gene, cause LAM. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely help regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells... | lymphangioleiomyomatosis |
Is lymphangioleiomyomatosis inherited ? | Sporadic LAM is not inherited. Instead, researchers suggest that it is caused by a random mutation in the TSC1 or TSC2 gene that occurs very early in development. As a result, some of the body's cells have a normal version of the gene, while others have the mutated version. This situation is called mosaicism. When a mu... | lymphangioleiomyomatosis |
What are the treatments for lymphangioleiomyomatosis ? | These resources address the diagnosis or management of LAM: - Canadian Lung Association - Genetic Testing Registry: Lymphangiomyomatosis - Merck Manual for Healthcare Professionals - National Heart, Lung, and Blood Institute: How is LAM Diagnosed? - National Heart, Lung, and Blood Institute: How is LAM Treated? ... | lymphangioleiomyomatosis |
What is (are) medullary cystic kidney disease type 1 ? | Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys. It leads to scarring (fibrosis) and impaired function of the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste products from the body. They also reabsorb needed nutrients and release them back in... | medullary cystic kidney disease type 1 |
How many people are affected by medullary cystic kidney disease type 1 ? | MCKD1 is a rare disorder, although its prevalence is unknown. | medullary cystic kidney disease type 1 |
What are the genetic changes related to medullary cystic kidney disease type 1 ? | MCKD1 is caused by mutations in the MUC1 gene. This gene provides instructions for making a protein called mucin 1, which is one of several mucin proteins that make up mucus. Mucus is a slippery substance that lubricates the lining of the airways, digestive system, reproductive system, and other organs and tissues and ... | medullary cystic kidney disease type 1 |
Is medullary cystic kidney disease type 1 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. | medullary cystic kidney disease type 1 |
What are the treatments for medullary cystic kidney disease type 1 ? | These resources address the diagnosis or management of medullary cystic kidney disease type 1: - MedlinePlus Encyclopedia: Medullary Cystic Kidney Disease - Merck Manual for Health Care Professionals: Nephronophthisis and Medullary Cystic Kidney Disease Complex These resources from MedlinePlus offer information abo... | medullary cystic kidney disease type 1 |
What is (are) oculofaciocardiodental syndrome ? | Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females. The eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition ... | oculofaciocardiodental syndrome |
How many people are affected by oculofaciocardiodental syndrome ? | OFCD syndrome is very rare; the incidence is estimated to be less than 1 in 1 million people. | oculofaciocardiodental syndrome |
What are the genetic changes related to oculofaciocardiodental syndrome ? | Mutations in the BCOR gene cause OFCD syndrome. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little is known about the protein's function, although it appears to play an important role in early embryonic development. Sever... | oculofaciocardiodental syndrome |
Is oculofaciocardiodental 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. Some ce... | oculofaciocardiodental syndrome |
What are the treatments for oculofaciocardiodental syndrome ? | These resources address the diagnosis or management of oculofaciocardiodental syndrome: - Genetic Testing Registry: Oculofaciocardiodental syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re... | oculofaciocardiodental syndrome |
What is (are) congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? | Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in ... | congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
How many people are affected by congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? | CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of all cases of congenital adrenal hyperplasia. It is estimated that CAH due to 11-beta-hydroxylase deficiency occurs in 1 in 100,000 to 200,000 newborns. This condition is more common in Moroccan Jews living in Israel, occurring in approximately 1 i... | congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
What are the genetic changes related to congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? | Mutations in the CYP11B1 gene cause CAH due to 11-beta-hydroxylase deficiency. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands, where it helps produce hormones called cortisol and corticosterone. Cortisol has numerous functions, such as ... | congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
Is congenital adrenal hyperplasia due to 11-beta-hydroxylase 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. | congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
What are the treatments for congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ? | These resources address the diagnosis or management of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: - Genetic Testing Registry: Deficiency of steroid 11-beta-monooxygenase - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia These resources from MedlinePlus offer information about the... | congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
What is (are) Canavan disease ? | Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that prote... | Canavan disease |
How many people are affected by Canavan disease ? | While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown. | Canavan disease |
What are the genetic changes related to Canavan disease ? | Mutations in the ASPA gene cause Canavan disease. The ASPA gene provides instructions for making an enzyme called aspartoacylase. This enzyme normally breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in the brain. The function of NAA is unclear. Researchers had suspe... | Canavan disease |
Is Canavan disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | Canavan disease |
What are the treatments for Canavan disease ? | These resources address the diagnosis or management of Canavan disease: - Gene Review: Gene Review: Canavan Disease - Genetic Testing Registry: Canavan disease, mild - Genetic Testing Registry: Spongy degeneration of central nervous system - MedlinePlus Encyclopedia: Canavan Disease These resources from MedlinePl... | Canavan disease |
What is (are) X-linked lymphoproliferative disease ? | X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV). EBV is a very common virus that eventually infects ... | X-linked lymphoproliferative disease |
How many people are affected by X-linked lymphoproliferative disease ? | XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is less common, occurring in about 1 per 5 million males. | X-linked lymphoproliferative disease |
What are the genetic changes related to X-linked lymphoproliferative disease ? | Mutations in the SH2D1A and XIAP genes cause XLP. SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2. The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). This protein is involved in the functioning of lymphocytes ... | X-linked lymphoproliferative disease |
Is X-linked lymphoproliferative disease inherited ? | This condition is generally inherited in an X-linked recessive pattern. The genes associated with this condition 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 an associated gene in each cell is sufficient to cause the condition. ... | X-linked lymphoproliferative disease |
What are the treatments for X-linked lymphoproliferative disease ? | These resources address the diagnosis or management of XLP: - Children's Hospital of Philadelphia - Gene Review: Gene Review: Lymphoproliferative Disease, X-Linked - Genetic Testing Registry: Lymphoproliferative syndrome 1, X-linked - Genetic Testing Registry: Lymphoproliferative syndrome 2, X-linked - MedlinePlus... | X-linked lymphoproliferative disease |
What is (are) lattice corneal dystrophy type I ? | Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision impairme... | lattice corneal dystrophy type I |
How many people are affected by lattice corneal dystrophy type I ? | Lattice corneal dystrophy type I is one of the most common disorders in a group of conditions that are characterized by protein deposits in the cornea (corneal dystrophies); however, it is still a rare condition. The prevalence of lattice corneal dystrophy type I is unknown. | lattice corneal dystrophy type I |
What are the genetic changes related to lattice corneal dystrophy type I ? | Lattice corneal dystrophy type I is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the cornea. The TGFBI protein is part of the extracellular matrix, an intricate network that forms in the spaces between cells and ... | lattice corneal dystrophy type I |
Is lattice corneal dystrophy type I 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. | lattice corneal dystrophy type I |
What are the treatments for lattice corneal dystrophy type I ? | These resources address the diagnosis or management of lattice corneal dystrophy type I: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Lattice corneal dystrophy Type I - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources fr... | lattice corneal dystrophy type I |
What is (are) pyridoxal 5'-phosphate-dependent epilepsy ? | Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. Most babies with this condition are born prematurely ... | pyridoxal 5'-phosphate-dependent epilepsy |
How many people are affected by pyridoxal 5'-phosphate-dependent epilepsy ? | Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described in the scientific literature. | pyridoxal 5'-phosphate-dependent epilepsy |
What are the genetic changes related to pyridoxal 5'-phosphate-dependent epilepsy ? | Mutations in the PNPO gene cause pyridoxal 5'-phosphate-dependent epilepsy. The PNPO gene provides instructions for producing an enzyme called pyridoxine 5'-phosphate oxidase. This enzyme is involved in the conversion (metabolism) of vitamin B6 derived from food (in the form of pyridoxine and pyridoxamine) to the activ... | pyridoxal 5'-phosphate-dependent epilepsy |
Is pyridoxal 5'-phosphate-dependent epilepsy 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. | pyridoxal 5'-phosphate-dependent epilepsy |
What are the treatments for pyridoxal 5'-phosphate-dependent epilepsy ? | These resources address the diagnosis or management of pyridoxal 5'-phosphate-dependent epilepsy: - Genetic Testing Registry: Pyridoxal 5'-phosphate-dependent epilepsy - MedlinePlus Encyclopedia: Lactic acidosis These resources from MedlinePlus offer information about the diagnosis and management of various health ... | pyridoxal 5'-phosphate-dependent epilepsy |
What is (are) complete LCAT deficiency ? | Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distri... | complete LCAT deficiency |
How many people are affected by complete LCAT deficiency ? | Complete LCAT deficiency is a rare disorder. Approximately 70 cases have been reported in the medical literature. | complete LCAT deficiency |
What are the genetic changes related to complete LCAT deficiency ? | Complete LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry i... | complete LCAT deficiency |
Is complete LCAT 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. | complete LCAT deficiency |
What are the treatments for complete LCAT deficiency ? | These resources address the diagnosis or management of complete LCAT deficiency: - Genetic Testing Registry: Norum disease - MedlinePlus Encyclopedia: Corneal Transplant - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? - National Institutes of Diabetes and Digestive and Kidney Diseases:... | complete LCAT deficiency |
What is (are) lung cancer ? | Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may or may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, breathing problems, trouble swallowing or speaking, blood in ... | lung cancer |
How many people are affected by lung cancer ? | In the United States, it is estimated that more than 221,000 people develop lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur in tobacco smokers. Approximately 6.6 percent of individuals will develop lung cancer during their lifetime. It is the leading cause of cancer deaths, accounting f... | lung cancer |
What are the genetic changes related to lung cancer ? | Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In nearly all cases of lung cancer, these genetic changes are acquired during a person's li... | lung cancer |
Is lung cancer inherited ? | Most cases of lung cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the lung. When lung cancer is related to inherited gene changes, the cancer risk is inherited in an autosomal dominant pattern, which means one copy of the altere... | lung cancer |
What are the treatments for lung cancer ? | These resources address the diagnosis or management of lung cancer: - Genetic Testing Registry: Lung cancer - Genetic Testing Registry: Non-small cell lung cancer - Lung Cancer Mutation Consortium: About Mutation Testing - MedlinePlus Encyclopedia: Lung Cancer--Non-Small Cell - MedlinePlus Encyclopedia: Lung Cance... | lung cancer |
What is (are) hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disord... | hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome |
How many people are affected by hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | HANAC syndrome is a rare condition, although the exact prevalence is unknown. At least six affected families have been described in the scientific literature. | hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome |
What are the genetic changes related to hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sh... | hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome |
Is hereditary angiopathy with nephropathy, aneurysms, and muscle cramps 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. | hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome |
What are the treatments for hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | These resources address the diagnosis or management of HANAC syndrome: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps These resources from MedlinePlus offer information about the diagnosis and management of vari... | hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome |
What is (are) breast cancer ? | Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk duct... | breast cancer |
How many people are affected by breast cancer ? | Breast cancer is the second most commonly diagnosed cancer in women. (Only skin cancer is more common.) About one in eight women in the United States will develop invasive breast cancer in her lifetime. Researchers estimate that more than 230,000 new cases of invasive breast cancer will be diagnosed in U.S. women in 20... | breast cancer |
What are the genetic changes related to breast cancer ? | Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. In most cases of breast cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells i... | breast cancer |
Is breast cancer inherited ? | Most cases of breast cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations in breast cells that are acquired during a person's lifetime, and they do not cluster in families. In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved... | breast cancer |
What are the treatments for breast cancer ? | These resources address the diagnosis or management of breast cancer: - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Gene Review: Gene Review: Li-Fraumeni Syndrome - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome ... | breast cancer |
What is (are) transthyretin amyloidosis ? | Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spi... | transthyretin amyloidosis |
How many people are affected by transthyretin amyloidosis ? | The exact incidence of transthyretin amyloidosis is unknown. In northern Portugal, the incidence of this condition is thought to be one in 538 people. Transthyretin amyloidosis is less common among Americans of European descent, where it is estimated to affect one in 100,000 people. The cardiac form of transthyretin am... | transthyretin amyloidosis |
What are the genetic changes related to transthyretin amyloidosis ? | Mutations in the TTR gene cause transthyretin amyloidosis. The TTR gene provides instructions for producing a protein called transthyretin. Transthyretin transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport retinol and thyroxine, four transthyretin proteins must be attached (b... | transthyretin amyloidosis |
Is transthyretin amyloidosis 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 inherits the mutation from one affected parent. Rarely, cases result from new mutations in the gene and occur in people with no hist... | transthyretin amyloidosis |
What are the treatments for transthyretin amyloidosis ? | These resources address the diagnosis or management of transthyretin amyloidosis: - Boston University: Amyloid Treatment & Research Program - Gene Review: Gene Review: Familial Transthyretin Amyloidosis - Genetic Testing Registry: Amyloidogenic transthyretin amyloidosis - MedlinePlus Encyclopedia: Autonomic neuropa... | transthyretin amyloidosis |
What is (are) caudal regression syndrome ? | Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract. In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, and... | caudal regression syndrome |
How many people are affected by caudal regression syndrome ? | Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 newborns. This condition is much more common in infants born to mothers with diabetes when it affects an estimated 1 in 350 newborns. | caudal regression syndrome |
What are the genetic changes related to caudal regression syndrome ? | Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes in the mother. It is though... | caudal regression syndrome |
Is caudal regression syndrome inherited ? | Caudal regression syndrome occurs sporadically, which means it occurs in people with no history of the condition in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. | caudal regression syndrome |
What are the treatments for caudal regression syndrome ? | These resources address the diagnosis or management of caudal regression syndrome: - MedlinePlus Encyclopedia: Bladder Exstrophy Repair - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Inguinal Hernia Repair - MedlinePlus Encyclopedia: Neurogenic Bladder These resources from MedlinePlus offer info... | caudal regression syndrome |
What is (are) systemic lupus erythematosus ? | Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs ... | systemic lupus erythematosus |
How many people are affected by systemic lupus erythematosus ? | For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. It is most common in younger women... | systemic lupus erythematosus |
What are the genetic changes related to systemic lupus erythematosus ? | Normal variations (polymorphisms) in many genes can affect the risk of developing SLE, and in most cases multiple genetic factors are thought to be involved. In rare cases, SLE is caused by mutations in single genes. Most of the genes associated with SLE are involved in immune system function, and variations in these g... | systemic lupus erythematosus |
Is systemic lupus erythematosus inherited ? | SLE and other autoimmune disorders tend to run in families, but the inheritance pattern is usually unknown. People may inherit a gene variation that increases or decreases the risk of SLE, but in most cases do not inherit the condition itself. Not all people with SLE have a gene variation that increases the risk, and n... | systemic lupus erythematosus |
What are the treatments for systemic lupus erythematosus ? | These resources address the diagnosis or management of systemic lupus erythematosus: - MedlinePlus Encyclopedia: Antinuclear Antibody Panel These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilita... | systemic lupus erythematosus |
What is (are) ataxia with vitamin E deficiency ? | Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neuro... | ataxia with vitamin E deficiency |
How many people are affected by ataxia with vitamin E deficiency ? | Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown. | ataxia with vitamin E deficiency |
What are the genetic changes related to ataxia with vitamin E deficiency ? | Mutations in the TTPA gene cause ataxia with vitamin E deficiency. The TTPA gene provides instructions for making the -tocopherol transfer protein (TTP), which is found in the liver and brain. This protein controls distribution of vitamin E obtained from the diet (also called -tocopherol) to cells and tissues throughou... | ataxia with vitamin E deficiency |
Is ataxia with vitamin E 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. | ataxia with vitamin E deficiency |
What are the treatments for ataxia with vitamin E deficiency ? | These resources address the diagnosis or management of ataxia with vitamin E deficiency: - Gene Review: Gene Review: Ataxia with Vitamin E Deficiency - Genetic Testing Registry: Ataxia with vitamin E deficiency - MedlinePlus Encyclopedia: Retinitis pigmentosa - MedlinePlus Encyclopedia: Vitamin E These resources ... | ataxia with vitamin E deficiency |
What is (are) mucolipidosis type IV ? | Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV. Approximately 95 percent of individuals with this condit... | mucolipidosis type IV |
How many people are affected by mucolipidosis type IV ? | Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry. | mucolipidosis type IV |
What are the genetic changes related to mucolipidosis type IV ? | Mutations in the MCOLN1 gene cause mucolipidosis type IV. This gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolip... | mucolipidosis type IV |
Is mucolipidosis 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. | mucolipidosis type IV |
What are the treatments for mucolipidosis type IV ? | These resources address the diagnosis or management of mucolipidosis type IV: - Gene Review: Gene Review: Mucolipidosis IV - Genetic Testing Registry: Ganglioside sialidase deficiency - MedlinePlus Encyclopedia: Gastrin These resources from MedlinePlus offer information about the diagnosis and management of variou... | mucolipidosis type IV |
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