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What is (are) sickle cell disease ? | Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. Signs and sympto... | sickle cell disease |
How many people are affected by sickle cell disease ? | Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central America, and parts of the Caribbean. Sickle cell dis... | sickle cell disease |
What are the genetic changes related to sickle cell disease ? | Mutations in the HBB gene cause sickle cell disease. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. The HBB gene provides instructions for making beta-globin. Various versions of beta-globin result from different mutations in the HBB gene.... | sickle cell disease |
Is sickle cell 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. | sickle cell disease |
What are the treatments for sickle cell disease ? | These resources address the diagnosis or management of sickle cell disease: - Baby's First Test: S, Beta-Thalassemia - Baby's First Test: S, C Disease - Baby's First Test: Sickle Cell Anemia - Gene Review: Gene Review: Sickle Cell Disease - Genetic Testing Registry: Hb SS disease - Genomics Education Programme (U... | sickle cell disease |
What is (are) beta-mannosidosis ? | Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disabil... | beta-mannosidosis |
How many people are affected by beta-mannosidosis ? | Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed. | beta-mannosidosis |
What are the genetic changes related to beta-mannosidosis ? | Mutations in the MANBA gene cause beta-mannosidosis. The MANBA gene provides instructions for making the enzyme beta-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 (oligosa... | beta-mannosidosis |
Is beta-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. | beta-mannosidosis |
What are the treatments for beta-mannosidosis ? | These resources address the diagnosis or management of beta-mannosidosis: - Genetic Testing Registry: Beta-D-mannosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co... | beta-mannosidosis |
What is (are) hyperphosphatemic familial tumoral calcinosis ? | Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in... | hyperphosphatemic familial tumoral calcinosis |
How many people are affected by hyperphosphatemic familial tumoral calcinosis ? | The prevalence of HFTC is unknown, but it is thought to be a rare condition. It occurs most often in Middle Eastern and African populations. | hyperphosphatemic familial tumoral calcinosis |
What are the genetic changes related to hyperphosphatemic familial tumoral calcinosis ? | Mutations in the FGF23, GALNT3, or KL gene cause HFTC. The proteins produced from these genes are all involved in the regulation of phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bon... | hyperphosphatemic familial tumoral calcinosis |
Is hyperphosphatemic familial tumoral calcinosis 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. | hyperphosphatemic familial tumoral calcinosis |
What are the treatments for hyperphosphatemic familial tumoral calcinosis ? | These resources address the diagnosis or management of hyperphosphatemic familial tumoral calcinosis: - Genetic Testing Registry: Tumoral calcinosis, familial, hyperphosphatemic These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - ... | hyperphosphatemic familial tumoral calcinosis |
What is (are) pulmonary alveolar microlithiasis ? | Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial l... | pulmonary alveolar microlithiasis |
How many people are affected by pulmonary alveolar microlithiasis ? | Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is unknown. About 600 affected individuals have been described in the medical literature, of whom about a quarter are of Turkish descent. The remainder come from populations worldwide. | pulmonary alveolar microlithiasis |
What are the genetic changes related to pulmonary alveolar microlithiasis ? | Pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene. This gene provides instructions for making a protein called the type IIb sodium-phosphate cotransporter, which plays a role in the regulation of phosphate levels (phosphate homeostasis). Although this protein can be found in several organs an... | pulmonary alveolar microlithiasis |
Is pulmonary alveolar microlithiasis 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. | pulmonary alveolar microlithiasis |
What are the treatments for pulmonary alveolar microlithiasis ? | These resources address the diagnosis or management of pulmonary alveolar microlithiasis: - Genetic Testing Registry: Pulmonary alveolar microlithiasis - MedlinePlus Health Topic: Oxygen Therapy - MedlinePlus Health Topic: Pulmonary Rehabilitation - National Jewish Health: Interstitial Lung Disease - Rare Diseases... | pulmonary alveolar microlithiasis |
What is (are) Caffey disease ? | Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphy... | Caffey disease |
How many people are affected by Caffey disease ? | Caffey disease has been estimated to occur in approximately 3 per 1,000 infants worldwide. A few hundred cases have been described in the medical literature. Researchers believe this condition is probably underdiagnosed because it usually goes away by itself in early childhood. | Caffey disease |
What are the genetic changes related to Caffey disease ? | A mutation in the COL1A1 gene causes Caffey disease. The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, and skin. In these tissues, type I collagen i... | Caffey disease |
Is Caffey disease inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is usually sufficient to cause the disorder. About 20 percent of people who have the mutation that causes Caffey disease do not experience its signs or symptoms; this phenomenon is called incomplete penet... | Caffey disease |
What are the treatments for Caffey disease ? | These resources address the diagnosis or management of Caffey disease: - Cedars-Sinai: Skeletal Dysplasia - Gene Review: Gene Review: Caffey Disease - Genetic Testing Registry: Infantile cortical hyperostosis These resources from MedlinePlus offer information about the diagnosis and management of various health co... | Caffey disease |
What is (are) acatalasemia ? | Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ul... | acatalasemia |
How many people are affected by acatalasemia ? | More than 100 cases of acatalasemia have been reported in the medical literature. Researchers estimate that the condition occurs in about 1 in 12,500 people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown. | acatalasemia |
What are the genetic changes related to acatalasemia ? | Mutations in the CAT gene can cause acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into oxygen and water. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it is involved in several chemical signaling pathwa... | acatalasemia |
Is acatalasemia inherited ? | Acatalasemia has an autosomal recessive pattern of inheritance, which means both copies of the CAT gene in each cell have mutations. When both copies of the gene are altered, the activity of catalase is reduced to less than 10 percent of normal. When only one of the two copies of the CAT gene has a mutation, the activ... | acatalasemia |
What are the treatments for acatalasemia ? | These resources address the diagnosis or management of acatalasemia: - Genetic Testing Registry: Acatalasemia - Genetic Testing Registry: Acatalasemia, japanese type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... | acatalasemia |
What is (are) ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ? | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. Among the most common features of AEC syndrome are missing patches ... | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
How many people are affected by ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ? | AEC syndrome is a rare condition; its prevalence is unknown. All forms of ectodermal dysplasia together occur in about 1 in 100,000 newborns in the United States. | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
What are the genetic changes related to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ? | AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an essential role in early development. The p63 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of particular genes. The p63 prote... | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
Is ankyloblepharon-ectodermal defects-cleft lip/palate 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. | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
What are the treatments for ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ? | These resources address the diagnosis or management of AEC syndrome: - Gene Review: Gene Review: TP63-Related Disorders - Genetic Testing Registry: Hay-Wells syndrome of ectodermal dysplasia - Genetic Testing Registry: Rapp-Hodgkin ectodermal dysplasia syndrome These resources from MedlinePlus offer information ab... | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
What is (are) Blau syndrome ? | Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be... | Blau syndrome |
How many people are affected by Blau syndrome ? | Although Blau syndrome appears to be uncommon, its prevalence is unknown. | Blau syndrome |
What are the genetic changes related to Blau syndrome ? | Blau syndrome results from mutations in the NOD2 gene. The protein produced from this gene helps defend the body from foreign invaders, such as viruses and bacteria, by playing several essential roles in the immune response, including inflammatory reactions. An inflammatory reaction occurs when the immune system sends ... | Blau syndrome |
Is Blau syndrome inherited ? | Blau syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most affected individuals have one parent with the condition. In some cases, people with the characteristic features of Blau syndrome do not have a family history of t... | Blau syndrome |
What are the treatments for Blau syndrome ? | These resources address the diagnosis or management of Blau syndrome: - Genetic Testing Registry: Blau syndrome - Genetic Testing Registry: Sarcoidosis, early-onset - Merck Manual Consumer Version: Overview of Dermatitis - Merck Manual Consumer Version: Uveitis These resources from MedlinePlus offer information a... | Blau syndrome |
What is (are) Pallister-Hall syndrome ? | Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is ch... | Pallister-Hall syndrome |
How many people are affected by Pallister-Hall syndrome ? | This condition is very rare; its prevalence is unknown. | Pallister-Hall syndrome |
What are the genetic changes related to Pallister-Hall syndrome ? | Mutations in the GLI3 gene cause Pallister-Hall syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 pr... | Pallister-Hall syndrome |
Is Pallister-Hall syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the GLI3 gene from one affected parent. Other cases result from new mutations in the gene and occur in people ... | Pallister-Hall syndrome |
What are the treatments for Pallister-Hall syndrome ? | These resources address the diagnosis or management of Pallister-Hall syndrome: - Gene Review: Gene Review: Pallister-Hall Syndrome - Genetic Testing Registry: Pallister-Hall syndrome - MedlinePlus Encyclopedia: Epiglottis (Image) - MedlinePlus Encyclopedia: Imperforate Anus - MedlinePlus Encyclopedia: Polydactyly... | Pallister-Hall syndrome |
What is (are) persistent Mllerian duct syndrome ? | Persistent Mllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Mlleri... | persistent Mllerian duct syndrome |
How many people are affected by persistent Mllerian duct syndrome ? | Persistent Mllerian duct syndrome is a rare disorder; however, the prevalence of the condition is unknown. | persistent Mllerian duct syndrome |
What are the genetic changes related to persistent Mllerian duct syndrome ? | Most people with persistent Mllerian duct syndrome have mutations in the AMH gene or the AMHR2 gene. The AMH gene provides instructions for making a protein called anti-Mllerian hormone (AMH). The AMHR2 gene provides instructions for making a protein called AMH receptor type 2. The AMH protein and AMH receptor type 2 ... | persistent Mllerian duct syndrome |
Is persistent Mllerian duct 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. However, persist... | persistent Mllerian duct syndrome |
What are the treatments for persistent Mllerian duct syndrome ? | These resources address the diagnosis or management of persistent Mllerian duct syndrome: - Genetic Testing Registry: Persistent Mullerian duct syndrome - MedlinePlus Encyclopedia: Undescended testicle repair These resources from MedlinePlus offer information about the diagnosis and management of various health con... | persistent Mllerian duct syndrome |
What is (are) ALG1-congenital disorder of glycosylation ? | ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems. Individuals with ALG1-CDG often have intellectual disability, delayed deve... | ALG1-congenital disorder of glycosylation |
How many people are affected by ALG1-congenital disorder of glycosylation ? | ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals have been described in the scientific literature. | ALG1-congenital disorder of glycosylation |
What are the genetic changes related to ALG1-congenital disorder of glycosylation ? | Mutations in the ALG1 gene cause ALG1-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fu... | ALG1-congenital disorder of glycosylation |
Is ALG1-congenital disorder of glycosylation inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | ALG1-congenital disorder of glycosylation |
What are the treatments for ALG1-congenital disorder of glycosylation ? | These resources address the diagnosis or management of ALG1-congenital disorder of glycosylation: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1K These resources from MedlinePlus offer information ab... | ALG1-congenital disorder of glycosylation |
What is (are) congenital hypothyroidism ? | Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain developmen... | congenital hypothyroidism |
How many people are affected by congenital hypothyroidism ? | Congenital hypothyroidism affects an estimated 1 in 2,000 to 4,000 newborns. For reasons that remain unclear, congenital hypothyroidism affects more than twice as many females as males. | congenital hypothyroidism |
What are the genetic changes related to congenital hypothyroidism ? | Congenital hypothyroidism can be caused by a variety of factors, only some of which are genetic. The most common cause worldwide is a shortage of iodine in the diet of the mother and the affected infant. Iodine is essential for the production of thyroid hormones. Genetic causes account for about 15 to 20 percent of cas... | congenital hypothyroidism |
Is congenital hypothyroidism inherited ? | Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family. When inherited, the condition usually has an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. Typically, the parents of an ind... | congenital hypothyroidism |
What are the treatments for congenital hypothyroidism ? | These resources address the diagnosis or management of congenital hypothyroidism: - Baby's First Test - Genetic Testing Registry: Congenital hypothyroidism - Genetic Testing Registry: Hypothyroidism, congenital, nongoitrous, 1 - MedlinePlus Encyclopedia: Congenital Hypothyroidism These resources from MedlinePlus ... | congenital hypothyroidism |
What is (are) Donohue syndrome ? | Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into... | Donohue syndrome |
How many people are affected by Donohue syndrome ? | Donohue syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature. | Donohue syndrome |
What are the genetic changes related to Donohue syndrome ? | Donohue syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream.... | Donohue syndrome |
Is Donohue 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. | Donohue syndrome |
What are the treatments for Donohue syndrome ? | These resources address the diagnosis or management of Donohue syndrome: - Genetic Testing Registry: Leprechaunism syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ... | Donohue syndrome |
What is (are) hyperprolinemia ? | Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II. People with hyperprolinemia type I often do ... | hyperprolinemia |
How many people are affected by hyperprolinemia ? | It is difficult to determine the prevalence of hyperprolinemia type I because most people with the condition do not have any symptoms. Hyperprolinemia type II is a rare condition; its prevalence is also unknown. | hyperprolinemia |
What are the genetic changes related to hyperprolinemia ? | Mutations in the ALDH4A1 and PRODH genes cause hyperprolinemia. Inherited hyperprolinemia is caused by deficiencies in the enzymes that break down (degrade) proline. Hyperprolinemia type I is caused by a mutation in the PRODH gene, which provides instructions for producing the enzyme proline oxidase. This enzyme begin... | hyperprolinemia |
Is hyperprolinemia 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 an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In about one-third ... | hyperprolinemia |
What are the treatments for hyperprolinemia ? | These resources address the diagnosis or management of hyperprolinemia: - Baby's First Test - Genetic Testing Registry: Deficiency of pyrroline-5-carboxylate reductase - Genetic Testing Registry: Proline dehydrogenase deficiency These resources from MedlinePlus offer information about the diagnosis and management ... | hyperprolinemia |
What is (are) triple A syndrome ? | Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and l... | triple A syndrome |
How many people are affected by triple A syndrome ? | Triple A syndrome is a rare condition, although its exact prevalence is unknown. | triple A syndrome |
What are the genetic changes related to triple A syndrome ? | Mutations in the AAAS gene cause triple A syndrome. This gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location,... | triple A syndrome |
Is triple A 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. | triple A syndrome |
What are the treatments for triple A syndrome ? | These resources address the diagnosis or management of triple A syndrome: - Genetic Testing Registry: Glucocorticoid deficiency with achalasia - MedlinePlus Encyclopedia: Achalasia - MedlinePlus Encyclopedia: Anisocoria These resources from MedlinePlus offer information about the diagnosis and management of variou... | triple A syndrome |
What is (are) atypical hemolytic-uremic syndrome ? | Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic... | atypical hemolytic-uremic syndrome |
How many people are affected by atypical hemolytic-uremic syndrome ? | The incidence of atypical hemolytic-uremic syndrome is estimated to be 1 in 500,000 people per year in the United States. The atypical form is probably about 10 times less common than the typical form. | atypical hemolytic-uremic syndrome |
What are the genetic changes related to atypical hemolytic-uremic syndrome ? | Atypical hemolytic-uremic syndrome often results from a combination of environmental and genetic factors. Mutations in at least seven genes appear to increase the risk of developing the disorder. Mutations in a gene called CFH are most common; they have been found in about 30 percent of all cases of atypical hemolytic-... | atypical hemolytic-uremic syndrome |
Is atypical hemolytic-uremic syndrome inherited ? | Most cases of atypical hemolytic-uremic syndrome are sporadic, which means that they occur in people with no apparent history of the disorder in their family. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessi... | atypical hemolytic-uremic syndrome |
What are the treatments for atypical hemolytic-uremic syndrome ? | These resources address the diagnosis or management of atypical hemolytic-uremic syndrome: - Gene Review: Gene Review: Atypical Hemolytic-Uremic Syndrome - Genetic Testing Registry: Atypical hemolytic uremic syndrome - Genetic Testing Registry: Atypical hemolytic-uremic syndrome 1 - Genetic Testing Registry: Atypic... | atypical hemolytic-uremic syndrome |
What is (are) hereditary folate malabsorption ? | Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA. Infants with hereditary folate malabsorption are born with normal a... | hereditary folate malabsorption |
How many people are affected by hereditary folate malabsorption ? | The prevalence of hereditary folate malabsorption is unknown. Approximately 15 affected families have been reported worldwide. Researchers believe that some infants with this disorder may not get diagnosed or treated, particularly in areas where advanced medical care is not available. | hereditary folate malabsorption |
What are the genetic changes related to hereditary folate malabsorption ? | The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients ... | hereditary folate malabsorption |
Is hereditary folate malabsorption 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 folate malabsorption |
What are the treatments for hereditary folate malabsorption ? | These resources address the diagnosis or management of hereditary folate malabsorption: - Gene Review: Gene Review: Hereditary Folate Malabsorption - Genetic Testing Registry: Congenital defect of folate absorption - MedlinePlus Encyclopedia: Folate - MedlinePlus Encyclopedia: Folate Deficiency - MedlinePlus Encyc... | hereditary folate malabsorption |
What is (are) laryngo-onycho-cutaneous syndrome ? | Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue i... | laryngo-onycho-cutaneous syndrome |
How many people are affected by laryngo-onycho-cutaneous syndrome ? | LOC syndrome is a rare disorder that primarily affects families of Punjabi background from India and Pakistan, although the condition has also been reported in one family from Iran. | laryngo-onycho-cutaneous syndrome |
What are the genetic changes related to laryngo-onycho-cutaneous syndrome ? | LOC syndrome is caused by mutations in the LAMA3 gene, which provides instructions for making one part (subunit) of a protein called laminin 332. This protein is made up of three subunits, called alpha, beta, and gamma. The LAMA3 gene carries instructions for the alpha subunit; the beta and gamma subunits are produced ... | laryngo-onycho-cutaneous syndrome |
Is laryngo-onycho-cutaneous 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. | laryngo-onycho-cutaneous syndrome |
What are the treatments for laryngo-onycho-cutaneous syndrome ? | These resources address the diagnosis or management of laryngo-onycho-cutaneous syndrome: - Genetic Testing Registry: Laryngoonychocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... | laryngo-onycho-cutaneous syndrome |
What is (are) gastrointestinal stromal tumor ? | A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs a... | gastrointestinal stromal tumor |
How many people are affected by gastrointestinal stromal tumor ? | Approximately 5,000 new cases of GIST are diagnosed in the United States each year. However, GISTs may be more common than this estimate because small tumors may remain undiagnosed. | gastrointestinal stromal tumor |
What are the genetic changes related to gastrointestinal stromal tumor ? | Genetic changes in one of several genes are involved in the formation of GISTs. About 80 percent of cases are associated with a mutation in the KIT gene, and about 10 percent of cases are associated with a mutation in the PDGFRA gene. Mutations in the KIT and PDGFRA genes are associated with both familial and sporadic ... | gastrointestinal stromal tumor |
Is gastrointestinal stromal tumor inherited ? | Most cases of GIST are not inherited. Sporadic GIST is associated with somatic mutations, which are genetic changes that occur only in the tumor cells and occur during a person's lifetime. In some cases of familial GIST, including those associated with mutations in the KIT and PDGFRA genes, mutations are inherited in ... | gastrointestinal stromal tumor |
What are the treatments for gastrointestinal stromal tumor ? | These resources address the diagnosis or management of gastrointestinal stromal tumor: - American Cancer Society: Treating Gastrointestinal Stromal Tumor (GIST) - Cancer.Net: Gastrointestinal Stromal Tumor--Diagnosis - Genetic Testing Registry: Gastrointestinal stromal tumor These resources from MedlinePlus offer ... | gastrointestinal stromal tumor |
What is (are) spastic paraplegia type 31 ? | Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger muscle m... | spastic paraplegia type 31 |
How many people are affected by spastic paraplegia type 31 ? | Spastic paraplegia type 31 is one of a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of one to 12 per 100,000 individuals. Spastic paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant hereditary spastic paraple... | spastic paraplegia type 31 |
What are the genetic changes related to spastic paraplegia type 31 ? | Spastic paraplegia type 31 is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in neurons in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are t... | spastic paraplegia type 31 |
Is spastic paraplegia type 31 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. | spastic paraplegia type 31 |
What are the treatments for spastic paraplegia type 31 ? | These resources address the diagnosis or management of spastic paraplegia type 31: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 31, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlu... | spastic paraplegia type 31 |
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