qtype stringclasses 16
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genetic changes | What are the genetic changes related to ring chromosome 14 syndrome ? | Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14, sometimes written as r(14). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 14 syndrome have one copy of this abno... |
inheritance | Is ring chromosome 14 syndrome inherited ? | Ring chromosome 14 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. In some cases, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. ... |
treatment | What are the treatments for ring chromosome 14 syndrome ? | These resources address the diagnosis or management of ring chromosome 14 syndrome: - Genetic Testing Registry: Ring chromosome 14 - MedlinePlus Encyclopedia: Chromosome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... |
information | What is (are) Griscelli syndrome ? | Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 invol... |
frequency | How many people are affected by Griscelli syndrome ? | Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types. |
genetic changes | What are the genetic changes related to Griscelli syndrome ? | The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene. The proteins produced from these genes are found in pigment-producing cells called mel... |
inheritance | Is Griscelli 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 Griscelli syndrome ? | These resources address the diagnosis or management of Griscelli syndrome: - Genetic Testing Registry: Griscelli syndrome type 1 - Genetic Testing Registry: Griscelli syndrome type 2 - Genetic Testing Registry: Griscelli syndrome type 3 These resources from MedlinePlus offer information about the diagnosis and man... |
information | What is (are) Hermansky-Pudlak syndrome ? | Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk... |
frequency | How many people are affected by Hermansky-Pudlak syndrome ? | Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected. Type 3 is common in people from central Puert... |
genetic changes | What are the genetic changes related to Hermansky-Pudlak syndrome ? | At least nine genes are associated with Hermansky-Pudlak syndrome. These genes provide instructions for making proteins that are used to make four distinct protein complexes. These protein complexes play a role in the formation and movement (trafficking) of a group of cell structures called lysosome-related organelles ... |
inheritance | Is Hermansky-Pudlak 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 Hermansky-Pudlak syndrome ? | These resources address the diagnosis or management of Hermansky-Pudlak syndrome: - Gene Review: Gene Review: Hermansky-Pudlak Syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome 1 - MedlinePlus Encyclopedia: Albinism - MedlinePlus Encyclopedia: Coli... |
information | 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... |
frequency | How many people are affected by asphyxiating thoracic dystrophy ? | Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people. |
genetic changes | 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 ... |
inheritance | 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. |
treatment | 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... |
information | What is (are) Joubert syndrome ? | Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies su... |
frequency | How many people are affected by Joubert syndrome ? | Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. However, this estimate may be too low because Joubert syndrome has such a large range of possible features and is likely underdiagnosed. |
genetic changes | What are the genetic changes related to Joubert syndrome ? | Joubert syndrome and related disorders can be caused by mutations in at least 10 genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signal... |
inheritance | Is Joubert syndrome inherited ? | Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of a 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. Rare... |
treatment | What are the treatments for Joubert syndrome ? | These resources address the diagnosis or management of Joubert syndrome: - Gene Review: Gene Review: Joubert Syndrome and Related Disorders - Genetic Testing Registry: Familial aplasia of the vermis - Genetic Testing Registry: Joubert syndrome 10 - Genetic Testing Registry: Joubert syndrome 2 - Genetic Testing Reg... |
information | What is (are) neurofibromatosis type 1 ? | Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. Beginning in early childhood, almost all people with neurof... |
frequency | How many people are affected by neurofibromatosis type 1 ? | Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. |
genetic changes | What are the genetic changes related to neurofibromatosis type 1 ? | Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, ... |
inheritance | Is neurofibromatosis type 1 inherited ? | Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF1 gen... |
treatment | What are the treatments for neurofibromatosis type 1 ? | These resources address the diagnosis or management of neurofibromatosis type 1: - Gene Review: Gene Review: Neurofibromatosis 1 - Genetic Testing Registry: Neurofibromatosis, type 1 - MedlinePlus Encyclopedia: Neurofibromatosis-1 These resources from MedlinePlus offer information about the diagnosis and managemen... |
information | What is (are) adenosine deaminase deficiency ? | Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-... |
frequency | How many people are affected by adenosine deaminase deficiency ? | Adenosine deaminase deficiency is very rare and is estimated to occur in approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is responsible for approximately 15 percent of SCID cases. |
genetic changes | What are the genetic changes related to adenosine deaminase deficiency ? | Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful i... |
inheritance | Is adenosine deaminase 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 adenosine deaminase deficiency ? | These resources address the diagnosis or management of ADA deficiency: - American Society of Gene and Cell Therapy: Gene Therapy for Genetic Disorders - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: Adenosine Deaminase Deficiency - Genetic Testing Registry: Severe combined immunode... |
information | What is (are) myotonic dystrophy ? | Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myoton... |
frequency | How many people are affected by myotonic dystrophy ? | Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations. In most populations, type 1 appears to be more common than type 2. However, recent studies suggest that type 2 may be as common as type 1 among... |
genetic changes | What are the genetic changes related to myotonic dystrophy ? | Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The specific functions of these genes are unclear. The protein produced from the DMPK gene may play a role in communication within cells. It appears to be important for the correct functioning of cel... |
inheritance | Is myotonic dystrophy inherited ? | Both types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As myotonic dystrophy is passed from one generation to the next, the disorder ... |
treatment | What are the treatments for myotonic dystrophy ? | These resources address the diagnosis or management of myotonic dystrophy: - Gene Review: Gene Review: Myotonic Dystrophy Type 1 - Gene Review: Gene Review: Myotonic Dystrophy Type 2 - Genetic Testing Registry: Myotonic dystrophy type 2 - Genetic Testing Registry: Steinert myotonic dystrophy syndrome - MedlinePlus... |
information | What is (are) Pol III-related leukodystrophy ? | Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes... |
frequency | How many people are affected by Pol III-related leukodystrophy ? | Pol III-related leukodystrophy is a rare disorder; its prevalence is unknown. Only about 40 cases have been described in the medical literature. However, researchers believe that a significant percentage of people with an unspecified hypomyelinating leukodystrophy could have Pol III-related leukodystrophy. |
genetic changes | What are the genetic changes related to Pol III-related leukodystrophy ? | Pol III-related leukodystrophy is caused by mutations in the POLR3A or POLR3B gene. These genes provide instructions for making the two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA poly... |
inheritance | Is Pol III-related leukodystrophy 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 Pol III-related leukodystrophy ? | These resources address the diagnosis or management of Pol III-related leukodystrophy: - Eastman Dental Hospital: Hypodontia Clinic - Gene Review: Gene Review: Pol III-Related Leukodystrophies - Genetic Testing Registry: Pol III-related leukodystrophy - Johns Hopkins Medicine: Treating Ataxia - National Ataxia Fou... |
information | What is (are) Legius syndrome ? | Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affect... |
frequency | How many people are affected by Legius syndrome ? | The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1. |
genetic changes | What are the genetic changes related to Legius syndrome ? | Mutations in the SPRED1 gene cause Legius syndrome. The SPRED1 gene provides instructions for making the Spred-1 protein. This protein controls (regulates) an important cell signaling pathway that is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific fu... |
inheritance | Is Legius 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 Legius syndrome ? | These resources address the diagnosis or management of Legius syndrome: - Children's Tumor Foundation: NF1 or Legius Syndrome--An Emerging Challenge of Clinical Diagnosis - Gene Review: Gene Review: Legius Syndrome - Genetic Testing Registry: Legius syndrome These resources from MedlinePlus offer information about... |
information | What is (are) Perrault syndrome ? | Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males a... |
frequency | How many people are affected by Perrault syndrome ? | Perrault syndrome is a rare disorder; fewer than 100 affected individuals have been described in the medical literature. It is likely that the condition is underdiagnosed, because males without an affected sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome. |
genetic changes | What are the genetic changes related to Perrault syndrome ? | Perrault syndrome has several genetic causes. C10orf2, CLPP, HARS2, LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including C10orf2, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the... |
inheritance | Is Perrault 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 do not show signs and symptoms of the condition. |
treatment | What are the treatments for Perrault syndrome ? | These resources address the diagnosis or management of Perrault syndrome: - Gene Review: Gene Review: Perrault Syndrome - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance - Genetic Testing Registry: Perrault syndrome 2 - Genetic Testing Registry: Perrault syndr... |
information | What is (are) hepatic veno-occlusive disease with immunodeficiency ? | Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this... |
frequency | How many people are affected by hepatic veno-occlusive disease with immunodeficiency ? | VODI appears to be a rare disorder; approximately 20 affected families have been reported worldwide. Most people diagnosed with the condition have been of Lebanese ancestry. However, the disorder has also been identified in several individuals with other backgrounds in the United States and Italy. |
genetic changes | What are the genetic changes related to hepatic veno-occlusive disease with immunodeficiency ? | VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such a... |
inheritance | Is hepatic veno-occlusive disease with immunodeficiency 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 hepatic veno-occlusive disease with immunodeficiency ? | These resources address the diagnosis or management of VODI: - Gene Review: Gene Review: Hepatic Veno-Occlusive Disease with Immunodeficiency - Genetic Testing Registry: Hepatic venoocclusive disease with immunodeficiency These resources from MedlinePlus offer information about the diagnosis and management of vario... |
information | What is (are) arrhythmogenic right ventricular cardiomyopathy ? | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythm... |
frequency | How many people are affected by arrhythmogenic right ventricular cardiomyopathy ? | ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder may be underdiagnosed because it can be difficult to detect in people with mild or no symptoms. |
genetic changes | What are the genetic changes related to arrhythmogenic right ventricular cardiomyopathy ? | ARVC can result from mutations in at least eight genes. Many of these genes are involved in the function of desmosomes, which are structures that attach heart muscle cells to one another. Desmosomes provide strength to the myocardium and play a role in signaling between neighboring cells. Mutations in the genes respon... |
inheritance | Is arrhythmogenic right ventricular cardiomyopathy inherited ? | Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, ARVC has an autosomal recessive pattern of inheritance, which means both cop... |
treatment | What are the treatments for arrhythmogenic right ventricular cardiomyopathy ? | These resources address the diagnosis or management of ARVC: - Brigham and Women's Hospital - Cleveland Clinic: How Are Arrhythmias Treated? - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy - Genetic Te... |
information | What is (are) dihydropyrimidinase deficiency ? | Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase deficiency have no signs or symptoms related to the disorder, and in these individuals the condition can be diagnosed only by laboratory testing. Th... |
frequency | How many people are affected by dihydropyrimidinase deficiency ? | Dihydropyrimidinase deficiency is thought to be a rare disorder. Only a few dozen affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to dihydropyrimidinase deficiency ? | Dihydropyrimidinase deficiency is caused by mutations in the DPYS gene, which provides instructions for making an enzyme called dihydropyrimidinase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA. The dihydropyrimidinase enzyme is i... |
inheritance | Is dihydropyrimidinase 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 dihydropyrimidinase deficiency ? | These resources address the diagnosis or management of dihydropyrimidinase deficiency: - Genetic Testing Registry: Dihydropyrimidinase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Reha... |
information | What is (are) MYH9-related disorder ? | MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of... |
frequency | How many people are affected by MYH9-related disorder ? | The incidence of MYH9-related disorder is unknown. More than 200 affected families have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to MYH9-related disorder ? | MYH9-related disorder is caused by mutations in the MYH9 gene. The MYH9 gene provides instructions for making a protein called myosin-9. This protein is one part (subunit) of the myosin IIA protein. There are three forms of myosin II, called myosin IIA, myosin IIB and myosin IIC. The three forms are found throughout t... |
inheritance | Is MYH9-related disorder 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. Approximately 30 percent of cases result from new mutations in the gene and occur in... |
treatment | What are the treatments for MYH9-related disorder ? | These resources address the diagnosis or management of MYH9-related disorder: - Gene Review: Gene Review: MYH9-Related Disorders - Genetic Testing Registry: Epstein syndrome - Genetic Testing Registry: Fechtner syndrome - Genetic Testing Registry: Macrothrombocytopenia and progressive sensorineural deafness - Gene... |
information | What is (are) Ellis-van Creveld syndrome ? | Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (pol... |
frequency | How many people are affected by Ellis-van Creveld syndrome ? | In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania, and in t... |
genetic changes | What are the genetic changes related to Ellis-van Creveld syndrome ? | Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from the EVC and EVC2 genes are thought to help regulate the S... |
inheritance | Is Ellis-van Creveld 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 Ellis-van Creveld syndrome ? | These resources address the diagnosis or management of Ellis-van Creveld syndrome: - Genetic Testing Registry: Chondroectodermal dysplasia - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome - MedlinePlus Encyclopedia: Polydactyly These resources from Medlin... |
information | What is (are) Lennox-Gastaut syndrome ? | Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. More than three-quarters of affected individ... |
frequency | How many people are affected by Lennox-Gastaut syndrome ? | Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 children. This condition accounts for about 4 percent of all cases of childhood epilepsy. For unknown reasons, it appears to be more common in males than in females. |
genetic changes | What are the genetic changes related to Lennox-Gastaut syndrome ? | Researchers have not identified any genes specific to Lennox-Gastaut syndrome, although the disorder likely has a genetic component. About two-thirds of cases are described as symptomatic, which means that they are related to an existing neurological problem. Symptomatic Lennox-Gastaut syndrome can be associated with b... |
inheritance | Is Lennox-Gastaut syndrome inherited ? | Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy. People with the cryptogenic form of Lennox-Gastaut syndrome are more likely than pe... |
treatment | What are the treatments for Lennox-Gastaut syndrome ? | These resources address the diagnosis or management of Lennox-Gastaut syndrome: - Cleveland Clinic - Genetic Testing Registry: Epileptic encephalopathy Lennox-Gastaut type - National Institute of Neurological Disorders and Stroke: Diagnosis and Treatment of Epilepsy - News Release: FDA Approves New Drug to Treat Se... |
information | What is (are) nonsyndromic aplasia cutis congenita ? | Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on t... |
frequency | How many people are affected by nonsyndromic aplasia cutis congenita ? | Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The incidence of the nonsyndromic form is unknown. |
genetic changes | What are the genetic changes related to nonsyndromic aplasia cutis congenita ? | Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component; however, the genetic factors are not fully understood. Researchers suggest that genes important for skin gr... |
inheritance | Is nonsyndromic aplasia cutis congenita inherited ? | Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause t... |
treatment | What are the treatments for nonsyndromic aplasia cutis congenita ? | These resources address the diagnosis or management of nonsyndromic aplasia cutis congenita: - Genetic Testing Registry: Aplasia cutis congenita These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehab... |
information | What is (are) DOORS syndrome ? | DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability ... |
frequency | How many people are affected by DOORS syndrome ? | DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately 50 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to DOORS syndrome ? | DOORS syndrome can be caused by mutations in the TBC1D24 gene. This gene provides instructions for making a protein whose specific function in the cell is unclear. Studies suggest the protein may have several roles in cells. The TBC1D24 protein belongs to a group of proteins that are involved in the movement (transport... |
inheritance | Is DOORS 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 DOORS syndrome ? | These resources address the diagnosis or management of DOORS syndrome: - Gene Review: Gene Review: TBC1D24-Related Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic... |
information | What is (are) Arts syndrome ? | Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities ... |
frequency | How many people are affected by Arts syndrome ? | Arts syndrome appears to be extremely rare. Only a few families with this disorder have been described in the medical literature. |
genetic changes | What are the genetic changes related to Arts syndrome ? | Mutations in the PRPS1 gene cause Arts syndrome. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such a... |
inheritance | Is Arts syndrome inherited ? | This condition is inherited in an X-linked 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), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes... |
treatment | What are the treatments for Arts syndrome ? | These resources address the diagnosis or management of Arts syndrome: - Gene Review: Gene Review: Arts Syndrome - Genetic Testing Registry: Arts syndrome - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, Uncoordinated - MedlinePlus Encyclopedia: Optic Nerve Atrophy These resources fr... |
information | What is (are) triple A syndrome ? | Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and l... |
frequency | How many people are affected by triple A syndrome ? | Triple A syndrome is a rare condition, although its exact prevalence is unknown. |
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