problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) McCune-Albright syndrome ? | McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesio... | McCune-Albright syndrome |
How many people are affected by McCune-Albright syndrome ? | McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 people worldwide. | McCune-Albright syndrome |
What are the genetic changes related to McCune-Albright syndrome ? | McCune-Albright syndrome is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimatel... | McCune-Albright syndrome |
Is McCune-Albright syndrome inherited ? | McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of thi... | McCune-Albright syndrome |
What are the treatments for McCune-Albright syndrome ? | These resources address the diagnosis or management of McCune-Albright syndrome: - Gene Review: Gene Review: Fibrous Dysplasia/McCune-Albright Syndrome - Genetic Testing Registry: McCune-Albright syndrome - MedlinePlus Encyclopedia: McCune-Albright syndrome These resources from MedlinePlus offer information about ... | McCune-Albright syndrome |
What is (are) isolated lissencephaly sequence ? | Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). In people with ILS, the cells of the cerebral cortex are diso... | isolated lissencephaly sequence |
How many people are affected by isolated lissencephaly sequence ? | ILS affects approximately 1 in 100,000 newborns. | isolated lissencephaly sequence |
What are the genetic changes related to isolated lissencephaly sequence ? | Mutations in the PAFAH1B1, DCX, or TUBA1A gene can cause ILS. PAFAH1B1 gene mutations are responsible for over half of ILS cases; DCX gene mutations cause about 10 percent of cases; and TUBA1A gene mutations cause a small percentage of ILS. These genes provide instructions for making proteins that are involved in the m... | isolated lissencephaly sequence |
Is isolated lissencephaly sequence inherited ? | The inheritance pattern of ILS depends on the gene involved. When ILS is caused by mutations in the PAFAH1B1 or TUBA1A gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and ... | isolated lissencephaly sequence |
What are the treatments for isolated lissencephaly sequence ? | These resources address the diagnosis or management of isolated lissencephaly sequence: - Gene Review: Gene Review: DCX-Related Disorders - Gene Review: Gene Review: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia - Gene Review: Gene Review: Tubulinopathies Overview - Genetic Testing Registry: Lissenceph... | isolated lissencephaly sequence |
What is (are) phenylketonuria ? | Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treat... | phenylketonuria |
How many people are affected by phenylketonuria ? | The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are... | phenylketonuria |
What are the genetic changes related to phenylketonuria ? | Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from t... | phenylketonuria |
Is phenylketonuria 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. | phenylketonuria |
What are the treatments for phenylketonuria ? | These resources address the diagnosis or management of phenylketonuria: - Baby's First Test - Gene Review: Gene Review: Phenylalanine Hydroxylase Deficiency - Genetic Testing Registry: Phenylketonuria - MedlinePlus Encyclopedia: Phenylketonuria - MedlinePlus Encyclopedia: Serum Phenylalanine Screening These reso... | phenylketonuria |
What is (are) aromatase deficiency ? | Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone. Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly female or ... | aromatase deficiency |
How many people are affected by aromatase deficiency ? | The prevalence of aromatase deficiency is unknown; approximately 20 cases have been described in the medical literature. | aromatase deficiency |
What are the genetic changes related to aromatase deficiency ? | Mutations in the CYP19A1 gene cause aromatase deficiency. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual deve... | aromatase deficiency |
Is aromatase 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. | aromatase deficiency |
What are the treatments for aromatase deficiency ? | These resources address the diagnosis or management of aromatase deficiency: - Genetic Testing Registry: Aromatase deficiency - MedlinePlus Encyclopedia: Ovarian Overproduction of Androgens These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos... | aromatase deficiency |
What is (are) dopamine transporter deficiency syndrome ? | Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appe... | dopamine transporter deficiency syndrome |
How many people are affected by dopamine transporter deficiency syndrome ? | Dopamine transporter deficiency syndrome appears to be a rare disease; only about 20 affected individuals have been described in the medical literature. Researchers believe that the condition is probably underdiagnosed because its signs and symptoms overlap with cerebral palsy and other movement disorders. | dopamine transporter deficiency syndrome |
What are the genetic changes related to dopamine transporter deficiency syndrome ? | Dopamine transporter deficiency syndrome is caused by mutations in the SLC6A3 gene. This gene provides instructions for making a protein called the dopamine transporter. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. ... | dopamine transporter deficiency syndrome |
Is dopamine transporter deficiency 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. | dopamine transporter deficiency syndrome |
What are the treatments for dopamine transporter deficiency syndrome ? | These resources address the diagnosis or management of dopamine transporter deficiency syndrome: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Infantile Parkinsonism-dystonia These resources from MedlinePlus offer information about the diagnosis and management of various health ... | dopamine transporter deficiency syndrome |
What is (are) Clouston syndrome ? | Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and ... | Clouston syndrome |
How many people are affected by Clouston syndrome ? | The prevalence of Clouston syndrome is unknown. Cases have been reported in many populations; the disorder is especially common among people of French-Canadian descent. | Clouston syndrome |
What are the genetic changes related to Clouston syndrome ? | Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions, which permit the transport of nutr... | Clouston syndrome |
Is Clouston 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 most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | Clouston syndrome |
What are the treatments for Clouston syndrome ? | These resources address the diagnosis or management of Clouston syndrome: - Gene Review: Gene Review: Hidrotic Ectodermal Dysplasia 2 - Genetic Testing Registry: Hidrotic ectodermal dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... | Clouston syndrome |
What is (are) asphyxiating thoracic dystrophy ? | Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (c... | asphyxiating thoracic dystrophy |
How many people are affected by asphyxiating thoracic dystrophy ? | Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people. | asphyxiating thoracic dystrophy |
What are the genetic changes related to asphyxiating thoracic dystrophy ? | Mutations in at least 11 genes have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. Mutations in other genes each cause ... | asphyxiating thoracic dystrophy |
Is asphyxiating thoracic dystrophy 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. | asphyxiating thoracic dystrophy |
What are the treatments for asphyxiating thoracic dystrophy ? | These resources address the diagnosis or management of asphyxiating thoracic dystrophy: - Genetic Testing Registry: Asphyxiating thoracic dystrophy 2 - Genetic Testing Registry: Asphyxiating thoracic dystrophy 4 - Genetic Testing Registry: Asphyxiating thoracic dystrophy 5 - Genetic Testing Registry: Jeune thoracic... | asphyxiating thoracic dystrophy |
What is (are) triosephosphate isomerase deficiency ? | Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function. The anemia in this condition begins in infancy. Since the anemia results from the prema... | triosephosphate isomerase deficiency |
How many people are affected by triosephosphate isomerase deficiency ? | Triosephosphate isomerase deficiency is likely a rare condition; approximately 40 cases have been reported in the scientific literature. | triosephosphate isomerase deficiency |
What are the genetic changes related to triosephosphate isomerase deficiency ? | Mutations in the TPI1 gene cause triosephosphate isomerase deficiency. This gene provides instructions for making an enzyme called triosephosphate isomerase 1. This enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy... | triosephosphate isomerase deficiency |
Is triosephosphate isomerase 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. | triosephosphate isomerase deficiency |
What are the treatments for triosephosphate isomerase deficiency ? | These resources address the diagnosis or management of triosephosphate isomerase deficiency: - Genetic Testing Registry: Triosephosphate isomerase deficiency - MedlinePlus Encyclopedia: Hemolytic Anemia - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? These resources from MedlinePlus o... | triosephosphate isomerase deficiency |
What is (are) Aicardi syndrome ? | Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus... | Aicardi syndrome |
How many people are affected by Aicardi syndrome ? | Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 to 167,000 newborns in the United States. Researchers estimate that there are approximately 4,000 affected individuals worldwide. | Aicardi syndrome |
What are the genetic changes related to Aicardi syndrome ? | The cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in females, researchers believe that it is probably the result of a mutation in a gene on the X chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because the... | Aicardi syndrome |
Is Aicardi syndrome inherited ? | Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition. While... | Aicardi syndrome |
What are the treatments for Aicardi syndrome ? | These resources address the diagnosis or management of Aicardi syndrome: - Baylor College of Medicine - Gene Review: Gene Review: Aicardi Syndrome - Genetic Testing Registry: Aicardi's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di... | Aicardi syndrome |
What is (are) mucopolysaccharidosis type III ? | Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder d... | mucopolysaccharidosis type III |
How many people are affected by mucopolysaccharidosis type III ? | MPS III is the most common type of mucopolysaccharidosis; the estimated incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS IIIB are much more common than MPS IIIC and MPS IIID. | mucopolysaccharidosis type III |
What are the genetic changes related to mucopolysaccharidosis type III ? | Mutations in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. The GNS, HGSNAT, NAGLU... | mucopolysaccharidosis type III |
Is mucopolysaccharidosis type III 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. | mucopolysaccharidosis type III |
What are the treatments for mucopolysaccharidosis type III ? | These resources address the diagnosis or management of mucopolysaccharidosis type III: - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-B - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-C - Genetic Testing Registry: Mucopolysaccharido... | mucopolysaccharidosis type III |
What is (are) harlequin ichthyosis ? | Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelid... | harlequin ichthyosis |
How many people are affected by harlequin ichthyosis ? | Harlequin ichthyosis is very rare; its exact incidence is unknown. | harlequin ichthyosis |
What are the genetic changes related to harlequin ichthyosis ? | Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 g... | harlequin ichthyosis |
Is harlequin ichthyosis 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. | harlequin ichthyosis |
What are the treatments for harlequin ichthyosis ? | These resources address the diagnosis or management of harlequin ichthyosis: - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4B These resources from MedlinePlus offer information about the diagnosis and management of various... | harlequin ichthyosis |
What is (are) hyperferritinemia-cataract syndrome ? | Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts ... | hyperferritinemia-cataract syndrome |
How many people are affected by hyperferritinemia-cataract syndrome ? | Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals. | hyperferritinemia-cataract syndrome |
What are the genetic changes related to hyperferritinemia-cataract syndrome ? | Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of ... | hyperferritinemia-cataract syndrome |
Is hyperferritinemia-cataract 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. | hyperferritinemia-cataract syndrome |
What are the treatments for hyperferritinemia-cataract syndrome ? | These resources address the diagnosis or management of hyperferritinemia-cataract syndrome: - Boston Children's Hospital: Cataracts in Children - Genetic Testing Registry: Hyperferritinemia cataract syndrome - MedlinePlus Encyclopedia: Cataract Removal These resources from MedlinePlus offer information about the d... | hyperferritinemia-cataract syndrome |
What is (are) abetalipoproteinemia ? | Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Specifically, peop... | abetalipoproteinemia |
How many people are affected by abetalipoproteinemia ? | Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. | abetalipoproteinemia |
What are the genetic changes related to abetalipoproteinemia ? | Mutations in the MTTP gene cause abetalipoproteinemia. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the ... | abetalipoproteinemia |
Is abetalipoproteinemia 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. | abetalipoproteinemia |
What are the treatments for abetalipoproteinemia ? | These resources address the diagnosis or management of abetalipoproteinemia: - Genetic Testing Registry: Abetalipoproteinaemia - MedlinePlus Encyclopedia: Bassen-Kornzweig syndrome - MedlinePlus Encyclopedia: Malabsorption - MedlinePlus Encyclopedia: Retinitis pigmentosa - MedlinePlus Encyclopedia: Stools - floati... | abetalipoproteinemia |
What is (are) chylomicron retention disease ? | Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necess... | chylomicron retention disease |
How many people are affected by chylomicron retention disease ? | Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide. | chylomicron retention disease |
What are the genetic changes related to chylomicron retention disease ? | Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein that is involved in transporting chylomicrons within enterocytes, which are cells that line the intestine and absorb nutrients. SAR1B gene mutations impair the release of chylomicrons into the blo... | chylomicron retention disease |
Is chylomicron retention 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. | chylomicron retention disease |
What are the treatments for chylomicron retention disease ? | These resources address the diagnosis or management of chylomicron retention disease: - Genetic Testing Registry: Chylomicron retention disease - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic ... | chylomicron retention disease |
What is (are) atelosteogenesis type 1 ? | Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. A... | atelosteogenesis type 1 |
How many people are affected by atelosteogenesis type 1 ? | Atelosteogenesis type 1 is a rare disorder; its exact prevalence is unknown. Only a few dozen affected individuals have been identified. | atelosteogenesis type 1 |
What are the genetic changes related to atelosteogenesis type 1 ? | Mutations in the FLNB gene cause atelosteogenesis type 1. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another prot... | atelosteogenesis type 1 |
Is atelosteogenesis 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. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | atelosteogenesis type 1 |
What are the treatments for atelosteogenesis type 1 ? | These resources address the diagnosis or management of atelosteogenesis type 1: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tes... | atelosteogenesis type 1 |
What is (are) spondylocostal dysostosis ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformat... | spondylocostal dysostosis |
How many people are affected by spondylocostal dysostosis ? | Spondylocostal dysostosis is a rare condition, although its exact prevalence is unknown. | spondylocostal dysostosis |
What are the genetic changes related to spondylocostal dysostosis ? | Mutations in at least four genes are known to cause spondylocostal dysostosis: Mutations in the DLL3 gene cause spondylocostal dysostosis type 1; mutations in the MESP2 gene cause spondylocostal dysostosis type 2; mutations in the LFNG gene cause spondylocostal dysostosis type 3; and mutations in the HES7 gene cause sp... | spondylocostal dysostosis |
Is spondylocostal dysostosis inherited ? | Spondylocostal dysostosis can have different inheritance patterns. Types 1, 2, 3, and 4 are 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 t... | spondylocostal dysostosis |
What are the treatments for spondylocostal dysostosis ? | These resources address the diagnosis or management of spondylocostal dysostosis: - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive - Genetic Testing Registry: Jarcho-Levin syndrome - Genetic Testing Registry: Spondylocostal dysostosis 1 - Genetic Testing Registry: Spondylocostal dysostosis... | spondylocostal dysostosis |
What is (are) lamellar ichthyosis ? | Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have ... | lamellar ichthyosis |
How many people are affected by lamellar ichthyosis ? | Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 91,000 individuals are affected. | lamellar ichthyosis |
What are the genetic changes related to lamellar ichthyosis ? | Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation... | lamellar ichthyosis |
Is lamellar ichthyosis 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. | lamellar ichthyosis |
What are the treatments for lamellar ichthyosis ? | These resources address the diagnosis or management of lamellar ichthyosis: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3 - Genetic Testing Regis... | lamellar ichthyosis |
What is (are) narcolepsy ? | Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence. Narcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience ... | narcolepsy |
How many people are affected by narcolepsy ? | Narcolepsy affects about 1 in 2,000 people in the United States and Western Europe. However, the disorder is likely underdiagnosed, particularly in people with mild symptoms. Worldwide, narcolepsy appears to be most common in Japan, where it affects an estimated 1 in 600 people. | narcolepsy |
What are the genetic changes related to narcolepsy ? | Narcolepsy probably results from a combination of genetic and environmental factors, some of which have been identified, but many of which remain unknown. In most cases of narcolepsy with cataplexy, and in some cases without cataplexy, sleep abnormalities result from a loss of particular brain cells (neurons) in a par... | narcolepsy |
Is narcolepsy inherited ? | Most cases of narcolepsy are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (parents, siblings, and children) of... | narcolepsy |
What are the treatments for narcolepsy ? | These resources address the diagnosis or management of narcolepsy: - Genetic Testing Registry: Narcolepsy 1 - Genetic Testing Registry: Narcolepsy 2, susceptibility to - Genetic Testing Registry: Narcolepsy 3 - Genetic Testing Registry: Narcolepsy 4, susceptibility to - Genetic Testing Registry: Narcolepsy 5, susc... | narcolepsy |
What is (are) retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood. RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries ... | retinal arterial macroaneurysm with supravalvular pulmonic stenosis |
How many people are affected by retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | RAMSVPS is a rare disorder. Only a small number of affected individuals and families, all from Saudi Arabia, have been described in the medical literature. | retinal arterial macroaneurysm with supravalvular pulmonic stenosis |
What are the genetic changes related to retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). It is thought to help stop a pathway called BRAF signaling, which... | retinal arterial macroaneurysm with supravalvular pulmonic stenosis |
Is retinal arterial macroaneurysm with supravalvular pulmonic stenosis 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. | retinal arterial macroaneurysm with supravalvular pulmonic stenosis |
What are the treatments for retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? | These resources address the diagnosis or management of RAMSVPS: - Calgary Retina Consultants: Retinal Arterial Macroaneurysm - Genetic Testing Registry: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis - MedlinePlus Encyclopedia: Fluorescein Angiography - University of Rochester Medical Center: P... | retinal arterial macroaneurysm with supravalvular pulmonic stenosis |
What is (are) X-linked severe combined immunodeficiency ? | X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants wi... | X-linked severe combined immunodeficiency |
How many people are affected by X-linked severe combined immunodeficiency ? | X-linked SCID is the most common form of severe combined immunodeficiency. Its exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 newborns. | X-linked severe combined immunodeficiency |
What are the genetic changes related to X-linked severe combined immunodeficiency ? | Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially har... | X-linked severe combined immunodeficiency |
Is X-linked severe combined immunodeficiency inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | X-linked severe combined immunodeficiency |
What are the treatments for X-linked severe combined immunodeficiency ? | These resources address the diagnosis or management of X-linked SCID: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: X-Linked Severe Combined Immunodeficiency - Genetic Testing Registry: X-linked severe combined immunodeficiency - MedlinePlus Encyclopedia: Immunodeficiency Disorde... | X-linked severe combined immunodeficiency |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.