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genetic changes | What are the genetic changes related to focal dermal hypoplasia ? | Mutations in the PORCN gene cause focal dermal hypoplasia. This gene provides instructions for making a protein that is responsible for modifying other proteins, called Wnt proteins. Wnt proteins participate in chemical signaling pathways in the body that regulate development of the skin, bones, and other structures be... |
inheritance | Is focal dermal hypoplasia inherited ? | Focal dermal hypoplasia is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder... |
treatment | What are the treatments for focal dermal hypoplasia ? | These resources address the diagnosis or management of focal dermal hypoplasia: - Gene Review: Gene Review: Focal Dermal Hypoplasia - Genetic Testing Registry: Focal dermal hypoplasia - MedlinePlus Encyclopedia: Ectodermal dysplasia - MedlinePlus Encyclopedia: Omphalocele These resources from MedlinePlus offer in... |
information | What is (are) limb-girdle muscular dystrophy ? | Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, a... |
frequency | How many people are affected by limb-girdle muscular dystrophy ? | It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals. |
genetic changes | What are the genetic changes related to limb-girdle muscular dystrophy ? | The various forms of limb-girdle muscular dystrophy are caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in muscle maintenance and repair. Some of the proteins produced from these genes assemble with other proteins into larger protein complexes. These ... |
inheritance | Is limb-girdle muscular dystrophy inherited ? | Limb-girdle muscular dystrophy can have different inheritance patterns. Most forms of this condition 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 ge... |
treatment | What are the treatments for limb-girdle muscular dystrophy ? | These resources address the diagnosis or management of limb-girdle muscular dystrophy: - Cleveland Clinic - Gene Review: Gene Review: Limb-Girdle Muscular Dystrophy Overview - Genetic Testing Registry: Limb-girdle muscular dystrophy - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1A - Genetic Test... |
information | What is (are) Pitt-Hopkins syndrome ? | Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. Most affected individuals have delayed developmen... |
frequency | How many people are affected by Pitt-Hopkins syndrome ? | Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide. |
genetic changes | What are the genetic changes related to Pitt-Hopkins syndrome ? | Mutations in the TCF4 gene cause Pitt-Hopkins syndrome. This gene provides instructions for making a protein that attaches (binds) to other proteins and then binds to specific regions of DNA to help control the activity of many other genes. On the basis of its DNA binding and gene controlling activities, the TCF4 prote... |
inheritance | Is Pitt-Hopkins 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. |
treatment | What are the treatments for Pitt-Hopkins syndrome ? | These resources address the diagnosis or management of Pitt-Hopkins syndrome: - Gene Review: Gene Review: Pitt-Hopkins Syndrome - Genetic Testing Registry: Pitt-Hopkins syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... |
information | What is (are) CHOPS syndrome ? | CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abn... |
frequency | How many people are affected by CHOPS syndrome ? | CHOPS syndrome is a rare disorder whose prevalence is unknown. Only a few affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to CHOPS syndrome ? | CHOPS syndrome is caused by mutations in the AFF4 gene. This gene provides instructions for making part of a protein complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called transcription, which is the first step in the production of proteins from genes.... |
inheritance | Is CHOPS syndrome inherited ? | CHOPS 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. All known cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early emb... |
treatment | What are the treatments for CHOPS syndrome ? | These resources address the diagnosis or management of CHOPS syndrome: - Genetic Testing Registry: Chops syndrome - MedlinePlus Encyclopedia: Congenital Heart Defect -- Corrective Surgery These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... |
information | What is (are) Netherton syndrome ? | Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This mem... |
frequency | How many people are affected by Netherton syndrome ? | Netherton syndrome is estimated to affect 1 in 200,000 newborns. |
genetic changes | What are the genetic changes related to Netherton syndrome ? | Netherton syndrome is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is found in the ski... |
inheritance | Is Netherton 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 Netherton syndrome ? | These resources address the diagnosis or management of Netherton syndrome: - Genetic Testing Registry: Netherton syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Co... |
information | What is (are) Kabuki syndrome ? | Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and la... |
frequency | How many people are affected by Kabuki syndrome ? | Kabuki syndrome occurs in approximately 1 in 32,000 newborns. |
genetic changes | What are the genetic changes related to Kabuki syndrome ? | Kabuki syndrome is caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. Between 55 and 80 percent of cases of Kabuki syndrome are caused by mutations in the KMT2D gene. This gene provides instructions for making an enzyme called lysine-specific methyltransferase 2D that is found in many organs... |
inheritance | Is Kabuki syndrome inherited ? | When Kabuki syndrome is caused by mutations in the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When Kabuki syndrome is caused by mutations in the KDM6A gene, it is inherited in an X-linked dominant pattern. The... |
treatment | What are the treatments for Kabuki syndrome ? | These resources address the diagnosis or management of Kabuki syndrome: - Boston Children's Hospital - Gene Review: Gene Review: Kabuki Syndrome - Genetic Testing Registry: Kabuki make-up syndrome - Genetic Testing Registry: Kabuki syndrome 2 These resources from MedlinePlus offer information about the diagnosis ... |
information | What is (are) pyruvate kinase deficiency ? | Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (... |
frequency | How many people are affected by pyruvate kinase deficiency ? | Pyruvate kinase deficiency is the most common inherited cause of nonspherocytic hemolytic anemia. More than 500 affected families have been identified, and studies suggest that the disorder may be underdiagnosed because mild cases may not be identified. Pyruvate kinase deficiency is found in all ethnic groups. Its pre... |
genetic changes | What are the genetic changes related to pyruvate kinase deficiency ? | Pyruvate kinase deficiency is caused by mutations in the PKLR gene. The PKLR gene is active in the liver and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysi... |
inheritance | Is pyruvate kinase 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 pyruvate kinase deficiency ? | These resources address the diagnosis or management of pyruvate kinase deficiency: - Cincinnati Children's Hospital Medical Center: Hemolytic Anemia - Genetic Testing Registry: Pyruvate kinase deficiency of red cells - Johns Hopkins Medicine: Hemolytic Anemia These resources from MedlinePlus offer information abou... |
information | What is (are) PMM2-congenital disorder of glycosylation ? | PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same fami... |
frequency | How many people are affected by PMM2-congenital disorder of glycosylation ? | More than 800 individuals with PMM2-CDG have been identified worldwide. |
genetic changes | What are the genetic changes related to PMM2-congenital disorder of glycosylation ? | PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation modifies proteins so they can p... |
inheritance | Is PMM2-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. |
treatment | What are the treatments for PMM2-congenital disorder of glycosylation ? | These resources address the diagnosis or management of PMM2-CDG: - Gene Review: Gene Review: PMM2-CDG (CDG-Ia) - Genetic Testing Registry: Carbohydrate-deficient glycoprotein syndrome type I These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... |
information | What is (are) trisomy 13 ? | Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fi... |
frequency | How many people are affected by trisomy 13 ? | Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older. |
genetic changes | What are the genetic changes related to trisomy 13 ? | Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13. Trisomy 13 can also occur when part of chromosome 13 becomes attac... |
inheritance | Is trisomy 13 inherited ? | Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosom... |
treatment | What are the treatments for trisomy 13 ? | These resources address the diagnosis or management of trisomy 13: - Genetic Testing Registry: Complete trisomy 13 syndrome - MedlinePlus Encyclopedia: Trisomy 13 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... |
information | What is (are) autosomal recessive cerebellar ataxia type 1 ? | Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this ... |
frequency | How many people are affected by autosomal recessive cerebellar ataxia type 1 ? | More than 100 people have been diagnosed with ARCA1. This condition was first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of Quebec, Canada, but it has since been found in populations worldwide. |
genetic changes | What are the genetic changes related to autosomal recessive cerebellar ataxia type 1 ? | Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the ... |
inheritance | Is autosomal recessive cerebellar ataxia type 1 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 autosomal recessive cerebellar ataxia type 1 ? | These resources address the diagnosis or management of ARCA1: - Gene Review: Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia - Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive 8 - Johns Hopkins Medicine Department of Neurology and Neurosurgery: What is Ataxia? - MedlinePlus Enc... |
information | What is (are) Chediak-Higashi syndrome ? | Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections... |
frequency | How many people are affected by Chediak-Higashi syndrome ? | Chediak-Higashi syndrome is a rare disorder. About 200 cases of the condition have been reported worldwide. |
genetic changes | What are the genetic changes related to Chediak-Higashi syndrome ? | Chediak-Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays a role in the transport (trafficking) of materials into structures called lysosomes and similar cell structures... |
inheritance | Is Chediak-Higashi 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 Chediak-Higashi syndrome ? | These resources address the diagnosis or management of Chediak-Higashi syndrome: - Gene Review: Gene Review: Chediak-Higashi Syndrome - Genetic Testing Registry: Chdiak-Higashi syndrome - Immune Deficiency Foundation: Stem Cell and Gene Therapy - International Patient Organisation for Primary Immunodeficiencies (IP... |
information | What is (are) Bartter syndrome ? | Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amni... |
frequency | How many people are affected by Bartter syndrome ? | The exact prevalence of this disorder is unknown, although it likely affects about 1 per million people worldwide. The condition appears to be more common in Costa Rica and Kuwait than in other populations. |
genetic changes | What are the genetic changes related to Bartter syndrome ? | Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA... |
inheritance | Is Bartter 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 Bartter syndrome ? | These resources address the diagnosis or management of Bartter syndrome: - Genetic Testing Registry: Bartter syndrome antenatal type 1 - Genetic Testing Registry: Bartter syndrome antenatal type 2 - Genetic Testing Registry: Bartter syndrome type 3 - Genetic Testing Registry: Bartter syndrome type 4 - Genetic Test... |
information | What is (are) congenital plasminogen deficiency ? | Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously i... |
frequency | How many people are affected by congenital plasminogen deficiency ? | The prevalence of congenital plasminogen deficiency has been estimated at 1.6 per one million people. This condition is believed to be underdiagnosed, because growths in one area are often not recognized as being a feature of a disorder that affects many body systems. Mild cases likely never come to medical attention. |
genetic changes | What are the genetic changes related to congenital plasminogen deficiency ? | Congenital plasminogen deficiency is caused by mutations in the PLG gene. This gene provides instructions for making a protein called plasminogen. Enzymes called plasminogen activators convert plasminogen into the protein plasmin, which breaks down another protein called fibrin. Fibrin is the main protein involved in b... |
inheritance | Is congenital plasminogen 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 congenital plasminogen deficiency ? | These resources address the diagnosis or management of congenital plasminogen deficiency: - Genetic Testing Registry: Plasminogen deficiency, type I - Indiana Hemophilia and Thrombosis Center - Plasminogen Deficiency Registry These resources from MedlinePlus offer information about the diagnosis and management of ... |
information | What is (are) intrahepatic cholestasis of pregnancy ? | Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the live... |
frequency | How many people are affected by intrahepatic cholestasis of pregnancy ? | Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of women of Northern European ancestry. The condition is more common in certain populations, such as women of Araucanian Indian ancestry in Chile or women of Scandinavian ancestry. This condition is found less frequently in other populations. |
genetic changes | What are the genetic changes related to intrahepatic cholestasis of pregnancy ? | Genetic changes in the ABCB11 or the ABCB4 gene can increase a woman's likelihood of developing intrahepatic cholestasis of pregnancy. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a compo... |
inheritance | Is intrahepatic cholestasis of pregnancy inherited ? | Susceptibility to intrahepatic cholestasis of pregnancy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing the disorder. Some women with an altered gene do not develop intrahepatic cholestasis of pregnancy. Many other fac... |
treatment | What are the treatments for intrahepatic cholestasis of pregnancy ? | These resources address the diagnosis or management of intrahepatic cholestasis of pregnancy: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Cholestasis of pregnancy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... |
information | What is (are) methemoglobinemia, beta-globin type ? | Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissue... |
frequency | How many people are affected by methemoglobinemia, beta-globin type ? | The incidence of methemoglobinemia, beta-globin type is unknown. |
genetic changes | What are the genetic changes related to methemoglobinemia, beta-globin type ? | Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that make up hemoglobin. In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another p... |
inheritance | Is methemoglobinemia, beta-globin type 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 methemoglobinemia, beta-globin type ? | These resources address the diagnosis or management of methemoglobinemia, beta-globin type: - Genetic Testing Registry: Methemoglobinemia, beta-globin type - KidsHealth from Nemours: Blood Test: Hemoglobin - MedlinePlus Encyclopedia: Hemoglobin - MedlinePlus Encyclopedia: Methemoglobinemia - MedlinePlus Encycloped... |
information | What is (are) glucose-galactose malabsorption ? | Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. Glucose and galactose are called simple sugars, or monosaccharides. Sucrose (table sugar) and l... |
frequency | How many people are affected by glucose-galactose malabsorption ? | Glucose-galactose malabsorption is a rare disorder; only a few hundred cases have been identified worldwide. However, as many as 10 percent of the population may have a somewhat reduced capacity for glucose absorption without associated health problems. This condition may be a milder variation of glucose-galactose mala... |
genetic changes | What are the genetic changes related to glucose-galactose malabsorption ? | Mutations in the SLC5A1 gene cause glucose-galactose malabsorption. The SLC5A1 gene provides instructions for producing a sodium/glucose cotransporter protein called SGLT1. This protein is found mainly in the intestinal tract and, to a lesser extent, in the kidneys, where it is involved in transporting glucose and the... |
inheritance | Is glucose-galactose malabsorption 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 some cases, indi... |
treatment | What are the treatments for glucose-galactose malabsorption ? | These resources address the diagnosis or management of glucose-galactose malabsorption: - Genetic Testing Registry: Congenital glucose-galactose malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Sur... |
information | What is (are) fibronectin glomerulopathy ? | Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease). Individuals with fibronectin glomerulopathy usually have blood and excess protein in their urine (hematuria and pr... |
frequency | How many people are affected by fibronectin glomerulopathy ? | Fibronectin glomerulopathy is likely a rare condition, although its prevalence is unknown. At least 45 cases have been described in the scientific literature. |
genetic changes | What are the genetic changes related to fibronectin glomerulopathy ? | Fibronectin glomerulopathy can be caused by mutations in the FN1 gene. The FN1 gene provides instructions for making the fibronectin-1 protein. Fibronectin-1 is involved in the continual formation of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between... |
inheritance | Is fibronectin glomerulopathy inherited ? | When fibronectin glomerulopathy is caused by mutations in the FN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these cases, an affected person inherits the mutation from one affected parent. Other cases resu... |
treatment | What are the treatments for fibronectin glomerulopathy ? | These resources address the diagnosis or management of fibronectin glomerulopathy: - Genetic Testing Registry: Glomerulopathy with fibronectin deposits 2 - MedlinePlus Encyclopedia: Protein Urine Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:... |
information | What is (are) Klippel-Trenaunay syndrome ? | Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. Most people with Klippel-Trenaunay syndrome ... |
frequency | How many people are affected by Klippel-Trenaunay syndrome ? | Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide. |
genetic changes | What are the genetic changes related to Klippel-Trenaunay syndrome ? | The cause of Klippel-Trenaunay syndrome is unknown. Researchers suspect that the condition may result from changes in one or more genes that regulate the growth of blood vessels during embryonic development. However, no associated genes have been identified. It is also unclear how blood vessel malformations are related... |
inheritance | Is Klippel-Trenaunay syndrome inherited ? | Klippel-Trenaunay syndrome is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. Studies suggest that the condition may result from gene mutations that are not inherited. These genetic changes, which are called somatic mutations, probably occur very early in de... |
treatment | What are the treatments for Klippel-Trenaunay syndrome ? | These resources address the diagnosis or management of Klippel-Trenaunay syndrome: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Klippel Trenaunay syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and mana... |
information | What is (are) Aarskog-Scott syndrome ? | Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a sma... |
frequency | How many people are affected by Aarskog-Scott syndrome ? | Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed. |
genetic changes | What are the genetic changes related to Aarskog-Scott syndrome ? | Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development. Mutations in the FGD1 gene lead to the product... |
inheritance | Is Aarskog-Scott syndrome inherited ? | Aarskog-Scott 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. In females (wh... |
treatment | What are the treatments for Aarskog-Scott syndrome ? | These resources address the diagnosis or management of Aarskog-Scott syndrome: - Genetic Testing Registry: Aarskog syndrome - MedlinePlus Encyclopedia: Aarskog syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... |
information | What is (are) fibrochondrogenesis ? | Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood. F... |
frequency | How many people are affected by fibrochondrogenesis ? | Fibrochondrogenesis appears to be a rare disorder. About 20 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to fibrochondrogenesis ? | Fibrochondrogenesis can result from mutations in the COL11A1 or COL11A2 gene. These genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Specifically, type XI collagen is f... |
inheritance | Is fibrochondrogenesis inherited ? | Fibrochondrogenesis is generally 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 usually do not show signs and symptoms of the condition. In ... |
treatment | What are the treatments for fibrochondrogenesis ? | These resources address the diagnosis or management of fibrochondrogenesis: - Genetic Testing Registry: Fibrochondrogenesis - Genetic Testing Registry: Fibrochondrogenesis 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dru... |
information | What is (are) congenital hyperinsulinism ? | Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a... |
frequency | How many people are affected by congenital hyperinsulinism ? | Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This condition is more common in certain populations, affecting up to 1 in 2,500 newborns. |
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