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genetic changes | What are the genetic changes related to supravalvular aortic stenosis ? | Mutations in the ELN gene cause SVAS. The ELN gene provides instructions for making a protein called tropoelastin. Multiple copies of the tropoelastin protein attach to one another and are processed to form a mature protein called elastin. Elastin is the major component of elastic fibers, which are slender bundles of p... |
inheritance | Is supravalvular aortic stenosis 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. However, some people who inherit the altered gene never develop features of SVAS. (This situation is known as reduced penetrance.) In some cases, a person inherits th... |
treatment | What are the treatments for supravalvular aortic stenosis ? | These resources address the diagnosis or management of supravalvular aortic stenosis: - Children's Hospital of Philadelphia - Genetic Testing Registry: Supravalvar aortic stenosis - Monroe Carell Jr. Children's Hospital at Vanderbilt These resources from MedlinePlus offer information about the diagnosis and manage... |
information | What is (are) epidermolytic hyperkeratosis ? | Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or th... |
frequency | How many people are affected by epidermolytic hyperkeratosis ? | Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 people worldwide. |
genetic changes | What are the genetic changes related to epidermolytic hyperkeratosis ? | Mutations in the KRT1 or KRT10 genes are responsible for epidermolytic hyperkeratosis. These genes provide instructions for making proteins called keratin 1 and keratin 10, which are found in cells called keratinocytes in the outer layer of the skin (the epidermis). The tough, fibrous keratin proteins attach to each ot... |
inheritance | Is epidermolytic hyperkeratosis inherited ? | Epidermolytic hyperkeratosis can have different inheritance patterns. About half of the cases of this condition result from new mutations in the KRT1 or KRT10 gene and occur in people with no history of the disorder in their family. When epidermolytic hyperkeratosis is inherited, it is usually in an autosomal dominant... |
treatment | What are the treatments for epidermolytic hyperkeratosis ? | These resources address the diagnosis or management of epidermolytic hyperkeratosis: - Genetic Testing Registry: Bullous ichthyosiform erythroderma - The Swedish Information Centre for Rare Diseases: Ichthyosis These resources from MedlinePlus offer information about the diagnosis and management of various health c... |
information | What is (are) progressive familial heart block ? | Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacem... |
frequency | How many people are affected by progressive familial heart block ? | The prevalence of progressive familial heart block is unknown. In the United States, about 1 in 5,000 individuals have complete heart block from any cause; worldwide, about 1 in 2,500 individuals have complete heart block. |
genetic changes | What are the genetic changes related to progressive familial heart block ? | Mutations in the SCN5A and TRPM4 genes cause most cases of progressive familial heart block types IA and IB, respectively. The proteins produced from these genes are channels that allow positively charged atoms (cations) into and out of cells. Both channels are abundant in heart (cardiac) cells and play key roles in th... |
inheritance | Is progressive familial heart block inherited ? | Progressive familial heart block types I and II are inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Some people with TRPM4 gene mutations never develop the condition, a situation known as reduced penetrance. In most cases, an affecte... |
treatment | What are the treatments for progressive familial heart block ? | These resources address the diagnosis or management of progressive familial heart block: - American Heart Association: Common Tests for Arrhythmia - Genetic Testing Registry: Progressive familial heart block type 1A - Genetic Testing Registry: Progressive familial heart block type 1B - Genetic Testing Registry: Pro... |
information | What is (are) fucosidosis ? | Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire de... |
frequency | How many people are affected by fucosidosis ? | Fucosidosis is a rare condition; approximately 100 cases have been reported worldwide. This condition appears to be most prevalent in Italy, Cuba, and the southwestern United States. |
genetic changes | What are the genetic changes related to fucosidosis ? | Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the breakdown of complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) and fats (glycolipids). Alpha-L-fucosidase is resp... |
inheritance | Is fucosidosis 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 fucosidosis ? | These resources address the diagnosis or management of fucosidosis: - Genetic Testing Registry: Fucosidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - P... |
information | What is (are) Alzheimer disease ? | Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood. Memory loss is the most common sign of Alzhei... |
frequency | How many people are affected by Alzheimer disease ? | Alzheimer disease currently affects an estimated 2.4 million to 4.5 million Americans. Because the risk of developing Alzheimer disease increases with age and more people are living longer, the number of people with this disease is expected to increase significantly in coming decades. |
genetic changes | What are the genetic changes related to Alzheimer disease ? | Most cases of early-onset Alzheimer disease are caused by gene mutations that can be passed from parent to child. Researchers have found that this form of the disorder can result from mutations in one of three genes: APP, PSEN1, or PSEN2. When any of these genes is altered, large amounts of a toxic protein fragment cal... |
inheritance | Is Alzheimer disease inherited ? | The early-onset form of Alzheimer disease 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 altered gene from one affected parent. The inheritance pattern of late-onset Alzheimer disea... |
treatment | What are the treatments for Alzheimer disease ? | These resources address the diagnosis or management of Alzheimer disease: - Alzheimer's Disease Research Center, Washington University School of Medicine - Gene Review: Gene Review: Alzheimer Disease Overview - Gene Review: Gene Review: Early-Onset Familial Alzheimer Disease - Genetic Testing Registry: Alzheimer di... |
information | What is (are) centronuclear myopathy ? | Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family. People with centronuclear myopathy b... |
frequency | How many people are affected by centronuclear myopathy ? | Centronuclear myopathy is a rare condition; its exact prevalence is unknown. |
genetic changes | What are the genetic changes related to centronuclear myopathy ? | Centronuclear myopathy is most often caused by mutations in the DNM2, BIN1, or TTN gene. The proteins produced from the DNM2 and BIN1 genes are involved in endocytosis, a process that brings substances into the cell. The protein produced from the BIN1 gene plays an additional role in the formation of tube-like structur... |
inheritance | Is centronuclear myopathy inherited ? | When centronuclear myopathy is caused by mutations in the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered DNM2 gene in each cell is sufficient to cause the disorder. Rarely, BIN1 gene mutations that are inherited in an autosomal dominant pattern can cause centronuclear m... |
treatment | What are the treatments for centronuclear myopathy ? | These resources address the diagnosis or management of centronuclear myopathy: - Genetic Testing Registry: Autosomal recessive centronuclear myopathy - Genetic Testing Registry: Myopathy, centronuclear - Genetic Testing Registry: Myopathy, centronuclear, 1 - Genetic Testing Registry: Myopathy, centronuclear, 4 - G... |
information | What is (are) glutathione synthetase deficiency ? | Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (... |
frequency | How many people are affected by glutathione synthetase deficiency ? | Glutathione synthetase deficiency is very rare. This disorder has been described in more than 70 people worldwide. |
genetic changes | What are the genetic changes related to glutathione synthetase deficiency ? | Mutations in the GSS gene cause glutathione synthetase deficiency. The GSS gene provides instructions for making an enzyme called glutathione synthetase. This enzyme is involved in a process called the gamma-glutamyl cycle, which takes place in most of the body's cells. This cycle is necessary for producing a molecule ... |
inheritance | Is glutathione synthetase 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 glutathione synthetase deficiency ? | These resources address the diagnosis or management of glutathione synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to - Genetic Testing Registry: Gluthathione synthetase deficiency These resources from MedlinePlus offer ... |
information | What is (are) Koolen-de Vries syndrome ? | Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurren... |
frequency | How many people are affected by Koolen-de Vries syndrome ? | The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. However, the underlying genetic cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed. |
genetic changes | What are the genetic changes related to Koolen-de Vries syndrome ? | Koolen-de Vries syndrome is caused by genetic changes that eliminate the function of one copy of the KANSL1 gene in each cell. Most affected individuals are missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17. This type of genetic abnormality is called a microdeletion. ... |
inheritance | Is Koolen-de Vries syndrome inherited ? | Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting one copy of the KANSL1 gene in each cell is sufficient to cause the disorder. In most cases, the disorder is not inherited. The genetic change occurs most often as a random event during the formation of repro... |
treatment | What are the treatments for Koolen-de Vries syndrome ? | These resources address the diagnosis or management of Koolen-de Vries syndrome: - Gene Review: Gene Review: KANSL1-Related Intellectual Disability Syndrome - Genetic Testing Registry: Koolen-de Vries syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health co... |
information | What is (are) Williams syndrome ? | Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with William... |
frequency | How many people are affected by Williams syndrome ? | Williams syndrome affects an estimated 1 in 7,500 to 10,000 people. |
genetic changes | What are the genetic changes related to Williams syndrome ? | Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 ... |
inheritance | Is Williams syndrome inherited ? | Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. Williams syndrome is considered an autosomal dominant condition bec... |
treatment | What are the treatments for Williams syndrome ? | These resources address the diagnosis or management of Williams syndrome: - Gene Review: Gene Review: Williams Syndrome - Genetic Testing Registry: Williams syndrome - MedlinePlus Encyclopedia: Williams Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health... |
information | What is (are) juvenile primary osteoporosis ? | Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals oft... |
frequency | How many people are affected by juvenile primary osteoporosis ? | The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 adults over age 50 have osteoporosis, but the condition is uncommon in children. Osteoporosis can occur at a young age as a feature of other conditions but rarely occurs without other signs and symptoms (primary osteoporosis). |
genetic changes | What are the genetic changes related to juvenile primary osteoporosis ? | Mutations in the LRP5 gene can cause juvenile primary osteoporosis. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein is involved in the regulation of bone mineral density. LRP5 gene mut... |
inheritance | Is juvenile primary osteoporosis 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. |
treatment | What are the treatments for juvenile primary osteoporosis ? | These resources address the diagnosis or management of juvenile primary osteoporosis: - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Osteoporosis These resources from MedlinePlus offer information abo... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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... |
treatment | 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... |
information | What is (are) Kuskokwim syndrome ? | Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of native Alaskans known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim... |
frequency | How many people are affected by Kuskokwim syndrome ? | Kuskokwim syndrome is extremely rare. It affects a small number of people from the Yup'ik Eskimo population in southwest Alaska. |
genetic changes | What are the genetic changes related to Kuskokwim syndrome ? | Kuskokwim syndrome is caused by mutations in the FKBP10 gene, which provides instructions for making the FKBP10 protein (formerly known as FKBP65). This protein is important for the correct processing of complex molecules called collagens, which provide structure and strength to connective tissues that support the body... |
inheritance | Is Kuskokwim 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 Kuskokwim syndrome ? | These resources address the diagnosis or management of Kuskokwim syndrome: - Genetic Testing Registry: Kuskokwim disease - Mount Sinai Hospital: Contractures Information These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... |
information | What is (are) ankylosing spondylitis ? | Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spi... |
frequency | How many people are affected by ankylosing spondylitis ? | Ankylosing spondylitis is part of a group of related diseases known as spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 to 13 per 1,000 people. |
genetic changes | What are the genetic changes related to ankylosing spondylitis ? | Ankylosing spondylitis is likely caused by a combination of genetic and environmental factors, most of which have not been identified. However, researchers have found variations in several genes that influence the risk of developing this disorder. The HLA-B gene provides instructions for making a protein that plays an... |
inheritance | Is ankylosing spondylitis inherited ? | Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with ankylosing spondylitis does not me... |
treatment | What are the treatments for ankylosing spondylitis ? | These resources address the diagnosis or management of ankylosing spondylitis: - Genetic Testing Registry: Ankylosing spondylitis - MedlinePlus Encyclopedia: Ankylosing Spondylitis - MedlinePlus Encyclopedia: HLA-B27 Antigen These resources from MedlinePlus offer information about the diagnosis and management of v... |
information | What is (are) renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. Instead, the ... |
frequency | How many people are affected by renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is a rare disorder; its prevalence is unknown. |
genetic changes | What are the genetic changes related to renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. These genes provide instructions for making proteins that are parts (subunits) of a large protein complex known as vacuolar H+-ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively ... |
inheritance | Is renal tubular acidosis with deafness 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 renal tubular acidosis with deafness ? | These resources address the diagnosis or management of renal tubular acidosis with deafness: - Genetic Testing Registry: Renal tubular acidosis with progressive nerve deafness - MedlinePlus Encyclopedia: Audiometry - MedlinePlus Encyclopedia: Kidney Function Tests These resources from MedlinePlus offer information... |
information | What is (are) anhidrotic ectodermal dysplasia with immune deficiency ? | Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs... |
frequency | How many people are affected by anhidrotic ectodermal dysplasia with immune deficiency ? | The prevalence of the X-linked recessive type of EDA-ID is estimated to be 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have been described in the scientific literature. |
genetic changes | What are the genetic changes related to anhidrotic ectodermal dysplasia with immune deficiency ? | Mutations in the IKBKG gene cause X-linked recessive EDA-ID, and mutations in the NFKBIA gene cause autosomal dominant EDA-ID. The proteins produced from these two genes regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins (a protein complex) that binds to DNA and controls the activity... |
inheritance | Is anhidrotic ectodermal dysplasia with immune deficiency inherited ? | When EDA-ID is caused by mutations in the IKBKG gene, it is inherited in an X-linked recessive pattern. The IKBKG gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In fe... |
treatment | What are the treatments for anhidrotic ectodermal dysplasia with immune deficiency ? | These resources address the diagnosis or management of anhidrotic ectodermal dysplasia with immune deficiency: - Genetic Testing Registry: Anhidrotic ectodermal dysplasia with immune deficiency - Genetic Testing Registry: Hypohidrotic ectodermal dysplasia with immune deficiency - MedlinePlus Encyclopedia: Immunodefi... |
information | What is (are) McLeod neuroacanthocytosis syndrome ? | McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men. This disorder affects movement in many parts of the body. People with McLeod neuroacanthocytosis syndrome also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a g... |
frequency | How many people are affected by McLeod neuroacanthocytosis syndrome ? | McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have been reported worldwide. |
genetic changes | What are the genetic changes related to McLeod neuroacanthocytosis syndrome ? | Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain,... |
inheritance | Is McLeod neuroacanthocytosis syndrome inherited ? | McLeod neuroacanthocytosis syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. I... |
treatment | What are the treatments for McLeod neuroacanthocytosis syndrome ? | These resources address the diagnosis or management of McLeod neuroacanthocytosis syndrome: - Gene Review: Gene Review: McLeod Neuroacanthocytosis Syndrome - Genetic Testing Registry: McLeod neuroacanthocytosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various... |
information | What is (are) Alagille syndrome ? | Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In ... |
frequency | How many people are affected by Alagille syndrome ? | The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy. |
genetic changes | What are the genetic changes related to Alagille syndrome ? | In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2. The J... |
inheritance | Is Alagille syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder. In approximately 30 to 50 percent of cases, an affected person inherits the mutation or deletion from one affected parent. Other cases result from new muta... |
treatment | What are the treatments for Alagille syndrome ? | These resources address the diagnosis or management of Alagille syndrome: - Boston Children's Hospital - Children's Hospital of Philadelphia - Children's Hospital of Pittsburgh - Gene Review: Gene Review: Alagille Syndrome - Genetic Testing Registry: Alagille syndrome 1 - Genetic Testing Registry: Arteriohepatic ... |
information | What is (are) Nicolaides-Baraitser syndrome ? | Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (... |
frequency | How many people are affected by Nicolaides-Baraitser syndrome ? | Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 cases have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to Nicolaides-Baraitser syndrome ? | Nicolaides-Baraitser syndrome is caused by mutations in the SMARCA2 gene. This gene provides instructions for making one piece (subunit) of a group of similar protein complexes known as SWI/SNF complexes. These complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the ne... |
inheritance | Is Nicolaides-Baraitser syndrome inherited ? | Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm... |
treatment | What are the treatments for Nicolaides-Baraitser syndrome ? | These resources address the diagnosis or management of Nicolaides-Baraitser syndrome: - Gene Review: Gene Review: Nicolaides-Baraitser Syndrome - Genetic Testing Registry: Nicolaides-Baraitser syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... |
information | 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... |
frequency | 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. |
genetic changes | 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 ... |
inheritance | 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. |
treatment | 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 ... |
information | What is (are) hereditary sensory neuropathy type IA ? | Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individua... |
frequency | How many people are affected by hereditary sensory neuropathy type IA ? | Hereditary sensory neuropathy type IA is a rare condition; its prevalence is estimated to be 1 to 2 per 100,000 individuals. |
genetic changes | What are the genetic changes related to hereditary sensory neuropathy type IA ? | Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell memb... |
inheritance | Is hereditary sensory neuropathy type IA 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. |
treatment | What are the treatments for hereditary sensory neuropathy type IA ? | These resources address the diagnosis or management of hereditary sensory neuropathy type IA: - Gene Review: Gene Review: Hereditary Sensory Neuropathy Type IA - Genetic Testing Registry: Neuropathy hereditary sensory and autonomic type 1 - Rare Diseases Clinical Research Network: Inherited Neuropathies Consortium ... |
information | What is (are) SYNGAP1-related intellectual disability ? | SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition h... |
frequency | How many people are affected by SYNGAP1-related intellectual disability ? | SYNGAP1-related intellectual disability is a relatively common form of cognitive impairment. It is estimated to account for 1 to 2 percent of intellectual disability cases. |
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