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What is (are) Hennekam syndrome ? | Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. The characteristic signs and symptoms of... | Hennekam syndrome |
How many people are affected by Hennekam syndrome ? | At least 50 cases of Hennekam syndrome have been reported worldwide. | Hennekam syndrome |
What are the genetic changes related to Hennekam syndrome ? | Mutations in the CCBE1 or FAT4 gene can cause Hennekam syndrome. The CCBE1 gene provides instructions for making a protein that is found in the lattice of proteins and other molecules outside the cell (extracellular matrix). The CCBE1 protein is involved in the maturation (differentiation) and movement (migration) of ... | Hennekam syndrome |
Is Hennekam 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. | Hennekam syndrome |
What are the treatments for Hennekam syndrome ? | These resources address the diagnosis or management of Hennekam syndrome: - Great Ormond Street Hospital for Children (UK): Primary Intestinal Lymphangiectasia Information - Johns Hopkins Medicine: Lymphedema Management - VascularWeb: Lymphedema These resources from MedlinePlus offer information about the diagnosi... | Hennekam syndrome |
What is (are) Perry syndrome ? | Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties. Parkinson... | Perry syndrome |
How many people are affected by Perry syndrome ? | Perry syndrome is very rare; about 50 affected individuals have been reported worldwide. | Perry syndrome |
What are the genetic changes related to Perry syndrome ? | Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. Thes... | Perry syndrome |
Is Perry 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. However, some cases result from new mutations in the gene and occur in people with n... | Perry syndrome |
What are the treatments for Perry syndrome ? | These resources address the diagnosis or management of Perry syndrome: - Gene Review: Gene Review: Perry Syndrome - Genetic Testing Registry: Perry syndrome - MedlinePlus Encyclopedia: Major Depression - MedlinePlus Encyclopedia: Primary Alveolar Hypoventilation - National Parkinson Foundation: Treatment These r... | Perry syndrome |
What is (are) immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? | Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Although IPEX syndrome can affect ma... | immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome |
How many people are affected by immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? | IPEX syndrome is a rare disorder; its prevalence is unknown. | immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome |
What are the genetic changes related to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? | Mutations in the FOXP3 gene cause some cases of IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein is essential for the production and normal function of certain im... | immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome |
Is immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome inherited ? | When IPEX syndrome is due to mutations in the FOXP3 gene, it is inherited in an X-linked recessive pattern. The FOXP3 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. I... | immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome |
What are the treatments for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? | These resources address the diagnosis or management of IPEX syndrome: - Gene Review: Gene Review: IPEX Syndrome - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and manage... | immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome |
What is (are) infantile neuroaxonal dystrophy ? | Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as cra... | infantile neuroaxonal dystrophy |
How many people are affected by infantile neuroaxonal dystrophy ? | Infantile neuroaxonal dystrophy is a very rare disorder. Its specific incidence is unknown. | infantile neuroaxonal dystrophy |
What are the genetic changes related to infantile neuroaxonal dystrophy ? | Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy. The PLA2G6 gene provides instructions for making a type of enzyme called an A2 phospholipase. This type of enzyme is involved in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is ... | infantile neuroaxonal dystrophy |
Is infantile neuroaxonal 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. | infantile neuroaxonal dystrophy |
What are the treatments for infantile neuroaxonal dystrophy ? | These resources address the diagnosis or management of infantile neuroaxonal dystrophy: - Gene Review: Gene Review: PLA2G6-Associated Neurodegeneration - Genetic Testing Registry: Infantile neuroaxonal dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health ... | infantile neuroaxonal dystrophy |
What is (are) ethylmalonic encephalopathy ? | Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is a... | ethylmalonic encephalopathy |
How many people are affected by ethylmalonic encephalopathy ? | About 30 individuals with this condition have been identified worldwide, mostly in Mediterranean and Arab populations. Although ethylmalonic encephalopathy appears to be very rare, researchers suggest that some cases have been misdiagnosed as other neurologic disorders. | ethylmalonic encephalopathy |
What are the genetic changes related to ethylmalonic encephalopathy ? | Mutations in the ETHE1 gene cause ethylmalonic encephalopathy. The ETHE1 gene provides instructions for making an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. Little is known about the enzyme's exact function, however. Mut... | ethylmalonic encephalopathy |
Is ethylmalonic encephalopathy 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. | ethylmalonic encephalopathy |
What are the treatments for ethylmalonic encephalopathy ? | These resources address the diagnosis or management of ethylmalonic encephalopathy: - Baby's First Test - Genetic Testing Registry: Ethylmalonic encephalopathy - MedlinePlus Encyclopedia: Skin discoloration - bluish These resources from MedlinePlus offer information about the diagnosis and management of various he... | ethylmalonic encephalopathy |
What is (are) trimethylaminuria ? | Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong ... | trimethylaminuria |
How many people are affected by trimethylaminuria ? | Trimethylaminuria is an uncommon genetic disorder; its incidence is unknown. | trimethylaminuria |
What are the genetic changes related to trimethylaminuria ? | Mutations in the FMO3 gene cause trimethylaminuria. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. This compound is produced by bacteria in the intestine during the digestion of proteins from eggs, liver, legumes (such as soyb... | trimethylaminuria |
Is trimethylaminuria inherited ? | Most cases of trimethylaminuria appear to be 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 typically do not show signs and symptoms ... | trimethylaminuria |
What are the treatments for trimethylaminuria ? | These resources address the diagnosis or management of trimethylaminuria: - Gene Review: Gene Review: Primary Trimethylaminuria - Genetic Testing Registry: Trimethylaminuria - Monell Chemical Senses Center: TMAU & Body Malodors - National Human Genome Research Institute: Diagnosis and Treatment of Trimethylaminuria... | trimethylaminuria |
What is (are) Beare-Stevenson cutis gyrata syndrome ? | Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of... | Beare-Stevenson cutis gyrata syndrome |
How many people are affected by Beare-Stevenson cutis gyrata syndrome ? | Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide. | Beare-Stevenson cutis gyrata syndrome |
What are the genetic changes related to Beare-Stevenson cutis gyrata syndrome ? | Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation in the FGFR2 gene alters the protein and promotes... | Beare-Stevenson cutis gyrata syndrome |
Is Beare-Stevenson cutis gyrata 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. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family. | Beare-Stevenson cutis gyrata syndrome |
What are the treatments for Beare-Stevenson cutis gyrata syndrome ? | These resources address the diagnosis or management of Beare-Stevenson cutis gyrata syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Cutis Gyrata syndrome of Beare and Stevenson - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Cran... | Beare-Stevenson cutis gyrata syndrome |
What is (are) leptin receptor deficiency ? | Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early c... | leptin receptor deficiency |
How many people are affected by leptin receptor deficiency ? | The prevalence of leptin receptor deficiency is unknown. It has been estimated to account for up to 3 percent of individuals with severe obesity and hyperphagia that begins in early childhood. | leptin receptor deficiency |
What are the genetic changes related to leptin receptor deficiency ? | Leptin receptor deficiency is caused by mutations in the LEPR gene. This gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of... | leptin receptor deficiency |
Is leptin receptor 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. | leptin receptor deficiency |
What are the treatments for leptin receptor deficiency ? | These resources address the diagnosis or management of leptin receptor deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Leptin receptor deficiency - Genetics of Obesity Study - National Heart, Lung, a... | leptin receptor deficiency |
What is (are) autosomal dominant partial epilepsy with auditory features ? | Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as s... | autosomal dominant partial epilepsy with auditory features |
How many people are affected by autosomal dominant partial epilepsy with auditory features ? | This condition appears to be uncommon, although its prevalence is unknown. | autosomal dominant partial epilepsy with auditory features |
What are the genetic changes related to autosomal dominant partial epilepsy with auditory features ? | Mutations in the LGI1 gene cause ADPEAF. This gene provides instructions for making a protein called Lgi1 or epitempin, which is found primarily in nerve cells (neurons) in the brain. Although researchers have proposed several functions for this protein, its precise role in the brain remains uncertain. Mutations in th... | autosomal dominant partial epilepsy with auditory features |
Is autosomal dominant partial epilepsy with auditory features inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered LGI1 gene in each cell is sufficient to raise the risk of developing epilepsy. About two-thirds of people who inherit a mutation in this gene will develop seizures. In most cases, an affected person has one affected parent... | autosomal dominant partial epilepsy with auditory features |
What are the treatments for autosomal dominant partial epilepsy with auditory features ? | These resources address the diagnosis or management of ADPEAF: - Gene Review: Gene Review: Autosomal Dominant Partial Epilepsy with Auditory Features - Genetic Testing Registry: Epilepsy, lateral temporal lobe, autosomal dominant - MedlinePlus Encyclopedia: Partial (Focal) Seizure - MedlinePlus Encyclopedia: Seizur... | autosomal dominant partial epilepsy with auditory features |
What is (are) familial cold autoinflammatory syndrome ? | Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life. People with this condition usually experience symptoms after cold exposure of an hour or more, although... | familial cold autoinflammatory syndrome |
How many people are affected by familial cold autoinflammatory syndrome ? | Familial cold autoinflammatory syndrome is a very rare condition, believed to have a prevalence of less than 1 per million people. | familial cold autoinflammatory syndrome |
What are the genetic changes related to familial cold autoinflammatory syndrome ? | Mutations in the NLRP3 and NLRP12 genes cause familial cold autoinflammatory syndrome. The NLRP3 gene (also known as CIAS1) provides instructions for making a protein called cryopyrin, and the NLRP12 gene provides instructions for making the protein monarch-1. Cryopyrin and monarch-1 belong to a family of proteins cal... | familial cold autoinflammatory syndrome |
Is familial cold autoinflammatory syndrome inherited ? | This condition is inherited in an autosomal dominant pattern from an affected parent; one copy of the altered gene in each cell is sufficient to cause the disorder. | familial cold autoinflammatory syndrome |
What are the treatments for familial cold autoinflammatory syndrome ? | These resources address the diagnosis or management of familial cold autoinflammatory syndrome: - Genetic Testing Registry: Familial cold autoinflammatory syndrome 2 - Genetic Testing Registry: Familial cold urticaria These resources from MedlinePlus offer information about the diagnosis and management of various h... | familial cold autoinflammatory syndrome |
What is (are) Tangier disease ? | Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholester... | Tangier disease |
How many people are affected by Tangier disease ? | Tangier disease is a rare disorder with approximately 100 cases identified worldwide. More cases are likely undiagnosed. This condition is named after an island off the coast of Virginia where the first affected individuals were identified. | Tangier disease |
What are the genetic changes related to Tangier disease ? | Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver. Mutations in the ABCA1 gene prevent the release of cholesterol and phospholipids fro... | Tangier disease |
Is Tangier 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. | Tangier disease |
What are the treatments for Tangier disease ? | These resources address the diagnosis or management of Tangier disease: - Genetic Testing Registry: Tangier disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... | Tangier disease |
What is (are) hereditary spherocytosis ? | Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it impr... | hereditary spherocytosis |
How many people are affected by hereditary spherocytosis ? | Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern European ancestry. This condition is the most common cause of inherited anemia in that population. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common. | hereditary spherocytosis |
What are the genetic changes related to hereditary spherocytosis ? | Mutations in at least five genes cause hereditary spherocytosis. These genes provide instructions for producing proteins that are found on the membranes of red blood cells. These proteins transport molecules into and out of cells, attach to other proteins, and maintain cell structure. Some of these proteins allow for c... | hereditary spherocytosis |
Is hereditary spherocytosis inherited ? | In about 75 percent of cases, hereditary spherocytosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the ... | hereditary spherocytosis |
What are the treatments for hereditary spherocytosis ? | These resources address the diagnosis or management of hereditary spherocytosis: - Genetic Testing Registry: Hereditary spherocytosis - Genetic Testing Registry: Spherocytosis type 2 - Genetic Testing Registry: Spherocytosis type 3 - Genetic Testing Registry: Spherocytosis type 4 - Genetic Testing Registry: Sphero... | hereditary spherocytosis |
What is (are) ulcerative colitis ? | Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface of the rectum and colon, which make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestin... | ulcerative colitis |
How many people are affected by ulcerative colitis ? | Ulcerative colitis is most common in North America and Western Europe; however the prevalence is increasing in other regions. In North America, ulcerative colitis affects approximately 40 to 240 in 100,000 people. It is estimated that more than 750,000 North Americans are affected by this disorder. Ulcerative colitis i... | ulcerative colitis |
What are the genetic changes related to ulcerative colitis ? | A variety of genetic and environmental factors are likely involved in the development of ulcerative colitis. Recent studies have identified variations in dozens of genes that may be linked to ulcerative colitis; however, the role of these variations is not completely understood. Researchers speculate that this conditio... | ulcerative colitis |
Is ulcerative colitis inherited ? | The inheritance pattern of ulcerative colitis is unknown because many genetic and environmental factors are likely to be involved. Even though the inheritance pattern of this condition is unclear, having a family member with ulcerative colitis increases the risk of developing the condition. | ulcerative colitis |
What are the treatments for ulcerative colitis ? | These resources address the diagnosis or management of ulcerative colitis: - American Society of Colon and Rectal Surgeons - Cedars-Sinai - Crohn's & Colitis Foundation of America: Colitis Diagnosis and Testing - Crohn's & Colitis Foundation of America: Colitis Treatment Options - Genetic Testing Registry: Inflamm... | ulcerative colitis |
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 ... | DOORS syndrome |
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. | DOORS syndrome |
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... | DOORS syndrome |
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. | DOORS syndrome |
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... | DOORS syndrome |
What is (are) Russell-Silver syndrome ? | Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the res... | Russell-Silver syndrome |
How many people are affected by Russell-Silver syndrome ? | The exact incidence of Russell-Silver syndrome is unknown, but the condition is estimated to affect 1 in 75,000 to 100,000 people. | Russell-Silver syndrome |
What are the genetic changes related to Russell-Silver syndrome ? | The genetic causes of Russell-Silver syndrome are complex. The disorder often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11. People normally inherit one copy of each chromosome from their mother a... | Russell-Silver syndrome |
Is Russell-Silver syndrome inherited ? | Most cases of Russell-Silver syndrome are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, Russell-Silver syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inh... | Russell-Silver syndrome |
What are the treatments for Russell-Silver syndrome ? | These resources address the diagnosis or management of Russell-Silver syndrome: - Gene Review: Gene Review: Russell-Silver Syndrome - Genetic Testing Registry: Russell-Silver syndrome - MedlinePlus Encyclopedia: Russell-Silver syndrome These resources from MedlinePlus offer information about the diagnosis and mana... | Russell-Silver syndrome |
What is (are) isolated Pierre Robin sequence ? | Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (a cleft palate). This condition is described as a "sequence" because one of its features,... | isolated Pierre Robin sequence |
How many people are affected by isolated Pierre Robin sequence ? | Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 people. | isolated Pierre Robin sequence |
What are the genetic changes related to isolated Pierre Robin sequence ? | Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated Pierre Robin sequence. It is likely that changes in other genes, some of which have not been identified, also cause isolated Pierre Robin sequence. The SOX9 gene provides instructions for making a protein that plays a critical role in ... | isolated Pierre Robin sequence |
Is isolated Pierre Robin sequence inherited ? | Isolated Pierre Robin sequence is usually not inherited. It typically results from new genetic changes and occurs in people with no history of the disorder in their family. When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the altered DNA in each cell is sufficient to ca... | isolated Pierre Robin sequence |
What are the treatments for isolated Pierre Robin sequence ? | These resources address the diagnosis or management of isolated Pierre Robin sequence: - Boston Children's Hospital: Cleft Lip and Cleft Palate Treatment and Care - Genetic Testing Registry: Robin sequence - Seattle Children's Hospital: Robin Sequence Treatments These resources from MedlinePlus offer information a... | isolated Pierre Robin sequence |
What is (are) type A insulin resistance syndrome ? | Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from th... | type A insulin resistance syndrome |
How many people are affected by type A insulin resistance syndrome ? | Type A insulin resistance syndrome is estimated to affect about 1 in 100,000 people worldwide. Because females have more health problems associated with the condition, it is diagnosed more often in females than in males. | type A insulin resistance syndrome |
What are the genetic changes related to type A insulin resistance syndrome ? | Type A insulin resistance syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating i... | type A insulin resistance syndrome |
Is type A insulin resistance syndrome inherited ? | Type A insulin resistance syndrome can have either an autosomal dominant or, less commonly, an autosomal recessive pattern of inheritance. In autosomal dominant inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one a... | type A insulin resistance syndrome |
What are the treatments for type A insulin resistance syndrome ? | These resources address the diagnosis or management of type A insulin resistance syndrome: - Genetic Testing Registry: Insulin-resistant diabetes mellitus AND acanthosis nigricans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... | type A insulin resistance syndrome |
What is (are) Gillespie syndrome ? | Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability. Gillespie syndrome is characterized by aniridia, which is the absence of the colored part of the eye (the iris). In most affected individuals, only ... | Gillespie syndrome |
How many people are affected by Gillespie syndrome ? | The prevalence of Gillespie syndrome is unknown. Only a few dozen affected individuals have been described in the medical literature. It has been estimated that Gillespie syndrome accounts for about 2 percent of cases of aniridia. | Gillespie syndrome |
What are the genetic changes related to Gillespie syndrome ? | Gillespie syndrome can be caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in early development, including the development of the eyes and brain. The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the ... | Gillespie syndrome |
Is Gillespie syndrome inherited ? | In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit the mutation from one affected parent. Other ca... | Gillespie syndrome |
What are the treatments for Gillespie syndrome ? | These resources address the diagnosis or management of Gillespie syndrome: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Intellectual and Developmental Disabilities? - Eunice Kennedy Shriver National Institute of Child Health and Human Develop... | Gillespie syndrome |
What is (are) Aicardi-Goutieres syndrome ? | Aicardi-Goutieres syndrome is a disorder that mainly affects the brain, the immune system, and the skin. Most newborns with Aicardi-Goutieres syndrome do not show any signs or symptoms of the disorder at birth. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen ... | Aicardi-Goutieres syndrome |
How many people are affected by Aicardi-Goutieres syndrome ? | Aicardi-Goutieres syndrome is a rare disorder. Its exact prevalence is unknown. | Aicardi-Goutieres syndrome |
What are the genetic changes related to Aicardi-Goutieres syndrome ? | Mutations in the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have been identified in people with Aicardi-Goutieres syndrome. The TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes provide instructions for making nucleases, which are enzymes that help break up molecules of DNA and its chemical cousin RNA. Mutation... | Aicardi-Goutieres syndrome |
Is Aicardi-Goutieres syndrome inherited ? | Aicardi-Goutieres syndrome can have different inheritance patterns. In most cases it 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 typic... | Aicardi-Goutieres syndrome |
What are the treatments for Aicardi-Goutieres syndrome ? | These resources address the diagnosis or management of Aicardi-Goutieres syndrome: - Gene Review: Gene Review: Aicardi-Goutieres Syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome 1 - Genetic Testing Registry: Aicardi Goutieres syndrome 2 - Geneti... | Aicardi-Goutieres syndrome |
What is (are) ALG6-congenital disorder of glycosylation ? | ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. Individuals with ALG6-CDG typically develop signs and symptoms ... | ALG6-congenital disorder of glycosylation |
How many people are affected by ALG6-congenital disorder of glycosylation ? | The prevalence of ALG6-CDG is unknown, but it is thought to be the second most common type of congenital disorder of glycosylation. More than 30 cases of ALG6-CDG have been described in the scientific literature. | ALG6-congenital disorder of glycosylation |
What are the genetic changes related to ALG6-congenital disorder of glycosylation ? | ALG6-CDG is caused by mutations in the ALG6 gene. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. Glycosylation is the process by which sugar molecules (monosaccharides) and complex chains of sugar molecules (oligosaccharides) are added to proteins and fats. Glyc... | ALG6-congenital disorder of glycosylation |
Is ALG6-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. | ALG6-congenital disorder of glycosylation |
What are the treatments for ALG6-congenital disorder of glycosylation ? | These resources address the diagnosis or management of ALG6-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surge... | ALG6-congenital disorder of glycosylation |
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