qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
|---|---|---|
genetic changes | What are the genetic changes related to 3-methylglutaconyl-CoA hydratase deficiency ? | Mutations in the AUH gene cause 3-methylglutaconyl-CoA hydratase deficiency. This gene provides instructions for producing 3-methylglutaconyl-CoA hydratase, an enzyme that is involved in breaking down a protein building block (amino acid) called leucine to provide energy for cells. This amino acid is broken down in cel... |
inheritance | Is 3-methylglutaconyl-CoA hydratase 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 3-methylglutaconyl-CoA hydratase deficiency ? | These resources address the diagnosis or management of 3-methylglutaconyl-CoA hydratase deficiency: - Baby's First Test - Genetic Testing Registry: 3-Methylglutaconic aciduria - MedlinePlus Encyclopedia: Metabolic Acidosis These resources from MedlinePlus offer information about the diagnosis and management of var... |
information | What is (are) fragile X-associated tremor/ataxia syndrome ? | Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected in... |
frequency | How many people are affected by fragile X-associated tremor/ataxia syndrome ? | Studies show that approximately 1 in 450 males has the genetic change that leads to FXTAS, although the condition occurs in only about 40 percent of them. It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 females has the genetic change, but only an estimated 16 percent of them develop sig... |
genetic changes | What are the genetic changes related to fragile X-associated tremor/ataxia syndrome ? | Mutations in the FMR1 gene increase the risk of developing FXTAS. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. FMRP plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical fo... |
inheritance | Is fragile X-associated tremor/ataxia syndrome inherited ? | An increased risk of developing FXTAS is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the ris... |
treatment | What are the treatments for fragile X-associated tremor/ataxia syndrome ? | These resources address the diagnosis or management of FXTAS: - Fragile X Research Foundation of Canada: FXTAS - Gene Review: Gene Review: FMR1-Related Disorders - Genetic Testing Registry: Fragile X tremor/ataxia syndrome - Merck Manual Consumer Version These resources from MedlinePlus offer information about th... |
information | 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... |
frequency | How many people are affected by Perry syndrome ? | Perry syndrome is very rare; about 50 affected individuals have been reported worldwide. |
genetic changes | 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... |
inheritance | 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... |
treatment | 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... |
information | What is (are) von Hippel-Lindau syndrome ? | Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome ... |
frequency | How many people are affected by von Hippel-Lindau syndrome ? | The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals. |
genetic changes | What are the genetic changes related to von Hippel-Lindau syndrome ? | Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. A... |
inheritance | Is von Hippel-Lindau syndrome inherited ? | Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and cysts. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from an affected parent. In about 20 per... |
treatment | What are the treatments for von Hippel-Lindau syndrome ? | These resources address the diagnosis or management of von Hippel-Lindau syndrome: - Brigham and Women's Hospital - Gene Review: Gene Review: Von Hippel-Lindau Syndrome - Genetic Testing Registry: Von Hippel-Lindau syndrome - Genomics Education Programme (UK) - MD Anderson Cancer Center - MedlinePlus Encyclopedia... |
information | What is (are) cerebrotendinous xanthomatosis ? | Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty... |
frequency | How many people are affected by cerebrotendinous xanthomatosis ? | The incidence of cerebrotendinous xanthomatosis is estimated to be 3 to 5 per 100,000 people worldwide. This condition is more common in the Moroccan Jewish population with an incidence of 1 in 108 individuals. |
genetic changes | What are the genetic changes related to cerebrotendinous xanthomatosis ? | Mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis. The CYP27A1 gene provides instructions for producing an enzyme called sterol 27-hydroxylase. This enzyme works in the pathway that breaks down cholesterol to form acids used in the digestion of fats (bile acids). Mutations in sterol 27-hydroxylase impa... |
inheritance | Is cerebrotendinous xanthomatosis 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 cerebrotendinous xanthomatosis ? | These resources address the diagnosis or management of cerebrotendinous xanthomatosis: - Gene Review: Gene Review: Cerebrotendinous Xanthomatosis - Genetic Testing Registry: Cholestanol storage disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... |
information | What is (are) lymphedema-distichiasis syndrome ? | Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness or swe... |
frequency | How many people are affected by lymphedema-distichiasis syndrome ? | The prevalence of lymphedema-distichiasis syndrome is unknown. Because the extra eyelashes can be overlooked during a medical examination, researchers believe that some people with this condition may be misdiagnosed as having lymphedema only. |
genetic changes | What are the genetic changes related to lymphedema-distichiasis syndrome ? | Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. The FOXC2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. The FOXC2 protein is a transcription factor, which means that it attaches (binds) to specific regions ... |
inheritance | Is lymphedema-distichiasis 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 lymphedema-distichiasis syndrome ? | These resources address the diagnosis or management of lymphedema-distichiasis syndrome: - Gene Review: Gene Review: Lymphedema-Distichiasis Syndrome - Genetic Testing Registry: Distichiasis-lymphedema syndrome - MedlinePlus Encyclopedia: Lymph System These resources from MedlinePlus offer information about the di... |
information | What is (are) Jacobsen syndrome ? | Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affec... |
frequency | How many people are affected by Jacobsen syndrome ? | The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More than 200 affected individuals have been reported. |
genetic changes | What are the genetic changes related to Jacobsen syndrome ? | Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). In almost all affected people, the del... |
inheritance | Is Jacobsen syndrome inherited ? | Most cases of Jacobsen syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the chromos... |
treatment | What are the treatments for Jacobsen syndrome ? | These resources address the diagnosis or management of Jacobsen syndrome: - 11q Research & Resource Group: Concerns and Recommendations - Genetic Testing Registry: 11q partial monosomy syndrome - Unique: Chromosome 11q Deletion Disorder: Jacobsen Syndrome These resources from MedlinePlus offer information about th... |
information | What is (are) Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. People with Mainzer-Saldino syndrome have chronic kidney disease that begins in childhood and gets worse over time. The rate at which the kidney disease worsens is variable, but the condition eventually le... |
frequency | How many people are affected by Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is a rare disorder; its prevalence is unknown. At least 20 cases have been reported. |
genetic changes | What are the genetic changes related to Mainzer-Saldino syndrome ? | Mainzer-Saldino syndrome is usually caused by mutations in the IFT140 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that ... |
inheritance | Is Mainzer-Saldino 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 Mainzer-Saldino syndrome ? | These resources address the diagnosis or management of Mainzer-Saldino syndrome: - MedlinePlus Encyclopedia: Electroretinography - National Institutes of Diabetes and Digestive and Kidney Diseases: Treatment Methods for Kidney Failure in Children These resources from MedlinePlus offer information about the diagnosi... |
information | What is (are) Angelman syndrome ? | Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epile... |
frequency | How many people are affected by Angelman syndrome ? | Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people. |
genetic changes | What are the genetic changes related to Angelman syndrome ? | Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. In certain areas of the brain, however, only the copy inhe... |
inheritance | Is Angelman syndrome inherited ? | Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typicall... |
treatment | What are the treatments for Angelman syndrome ? | These resources address the diagnosis or management of Angelman syndrome: - Gene Review: Gene Review: Angelman Syndrome - Genetic Testing Registry: Angelman syndrome - MedlinePlus Encyclopedia: Speech Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health ... |
information | What is (are) mucopolysaccharidosis type I ? | Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between ... |
frequency | How many people are affected by mucopolysaccharidosis type I ? | Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns. |
genetic changes | What are the genetic changes related to mucopolysaccharidosis type I ? | Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce... |
inheritance | Is mucopolysaccharidosis type I 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 mucopolysaccharidosis type I ? | These resources address the diagnosis or management of mucopolysaccharidosis type I: - Baby's First Test - Gene Review: Gene Review: Mucopolysaccharidosis Type I - Genetic Testing Registry: Mucopolysaccharidosis type I - MedlinePlus Encyclopedia: Hurler Syndrome - MedlinePlus Encyclopedia: Mucopolysaccharides - M... |
information | What is (are) autosomal dominant nocturnal frontal lobe epilepsy ? | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day. The seizures characteristic of ADNF... |
frequency | How many people are affected by autosomal dominant nocturnal frontal lobe epilepsy ? | ADNFLE appears to be an uncommon form of epilepsy; its prevalence is unknown. This condition has been reported in more than 100 families worldwide. |
genetic changes | What are the genetic changes related to autosomal dominant nocturnal frontal lobe epilepsy ? | Mutations in the CHRNA2, CHRNA4, and CHRNB2 genes can cause ADNFLE. These genes provide instructions for making different parts (subunits) of a larger molecule called a neuronal nicotinic acetylcholine receptor (nAChR). This receptor plays an important role in chemical signaling between nerve cells (neurons) in the bra... |
inheritance | Is autosomal dominant nocturnal frontal lobe epilepsy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to raise the risk of developing epilepsy. About 70 percent of people who inherit a mutation in the CHRNA2, CHRNA4, or CHRNB2 gene will develop seizures. In most cases, an affected person has... |
treatment | What are the treatments for autosomal dominant nocturnal frontal lobe epilepsy ? | These resources address the diagnosis or management of ADNFLE: - Gene Review: Gene Review: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 1 - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 2 - Genetic Testing Registry: Epilepsy... |
information | What is (are) ocular albinism ? | Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albini... |
frequency | How many people are affected by ocular albinism ? | The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. The classic signs and symptoms of this condition are much less common in females. |
genetic changes | What are the genetic changes related to ocular albinism ? | Ocular albinism type 1 results from mutations in the GPR143 gene. This gene provides instructions for making a protein that plays a role in pigmentation of the eyes and skin. It helps control the growth of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substan... |
inheritance | Is ocular albinism inherited ? | Ocular albinism type 1 is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause t... |
treatment | What are the treatments for ocular albinism ? | These resources address the diagnosis or management of ocular albinism: - Gene Review: Gene Review: Ocular Albinism, X-Linked - Genetic Testing Registry: Albinism ocular late onset sensorineural deafness - Genetic Testing Registry: Albinism, ocular, with sensorineural deafness - Genetic Testing Registry: Ocular alb... |
information | What is (are) hereditary leiomyomatosis and renal cell cancer ? | Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer. In this disorder, growths on the skin (cutaneo... |
frequency | How many people are affected by hereditary leiomyomatosis and renal cell cancer ? | HLRCC has been reported in approximately 100 families worldwide. Its prevalence is unknown. |
genetic changes | What are the genetic changes related to hereditary leiomyomatosis and renal cell cancer ? | Mutations in the FH gene cause hereditary leiomyomatosis and renal cell cancer. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use... |
inheritance | Is hereditary leiomyomatosis and renal cell cancer inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for hereditary leiomyomatosis and renal cell cancer ? | These resources address the diagnosis or management of HLRCC: - Gene Review: Gene Review: Hereditary Leiomyomatosis and Renal Cell Cancer - Genetic Testing Registry: Hereditary leiomyomatosis and renal cell cancer - MedlinePlus Encyclopedia: Renal Cell Carcinoma These resources from MedlinePlus offer information a... |
information | What is (are) gray platelet syndrome ? | Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following sur... |
frequency | How many people are affected by gray platelet syndrome ? | Gray platelet syndrome appears to be a rare disorder. About 60 cases have been reported worldwide. |
genetic changes | What are the genetic changes related to gray platelet syndrome ? | Gray platelet syndrome can be caused by mutations in the NBEAL2 gene. Little is known about the protein produced from this gene. It appears to play a role in the formation of alpha-granules, which are sacs inside platelets that contain growth factors and other proteins that are important for blood clotting and wound he... |
inheritance | Is gray platelet syndrome inherited ? | When gray platelet syndrome is caused by NBEAL2 gene mutations, it has an autosomal recessive pattern of inheritance, 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 altered gene in each cell. Gray platelet s... |
treatment | What are the treatments for gray platelet syndrome ? | These resources address the diagnosis or management of gray platelet syndrome: - Genetic Testing Registry: Gray platelet syndrome - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health condit... |
information | What is (are) Rothmund-Thomson syndrome ? | Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin ... |
frequency | How many people are affected by Rothmund-Thomson syndrome ? | Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. About 300 people with this condition have been reported worldwide in scientific studies. |
genetic changes | What are the genetic changes related to Rothmund-Thomson syndrome ? | Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This un... |
inheritance | Is Rothmund-Thomson 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 Rothmund-Thomson syndrome ? | These resources address the diagnosis or management of Rothmund-Thomson syndrome: - Gene Review: Gene Review: Rothmund-Thomson Syndrome - Genetic Testing Registry: Rothmund-Thomson syndrome - MedlinePlus Encyclopedia: Cataract - MedlinePlus Encyclopedia: Osteosarcoma These resources from MedlinePlus offer informa... |
information | What is (are) familial exudative vitreoretinopathy ? | Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to t... |
frequency | How many people are affected by familial exudative vitreoretinopathy ? | The prevalence of familial exudative vitreoretinopathy is unknown. It appears to be rare, although affected people with normal vision may never come to medical attention. |
genetic changes | What are the genetic changes related to familial exudative vitreoretinopathy ? | Mutations in the FZD4, LRP5, and NDP genes can cause familial exudative vitreoretinopathy. These genes provide instructions for making proteins that participate in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the proteins produced from the FZD4, LRP5, and NDP genes appear ... |
inheritance | Is familial exudative vitreoretinopathy inherited ? | Familial exudative vitreoretinopathy has different inheritance patterns depending on the gene involved. Most commonly, the condition results from mutations in the FZD4 or LRP5 gene and has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is suf... |
treatment | What are the treatments for familial exudative vitreoretinopathy ? | These resources address the diagnosis or management of familial exudative vitreoretinopathy: - Gene Review: Gene Review: Familial Exudative Vitreoretinopathy, Autosomal Dominant - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Exudative vitreoretinopathy 1 - Genetic Testing Registry... |
information | What is (are) spondyloperipheral dysplasia ? | Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia... |
frequency | How many people are affected by spondyloperipheral dysplasia ? | This condition is rare; only a few affected individuals have been reported worldwide. |
genetic changes | What are the genetic changes related to spondyloperipheral dysplasia ? | Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a ... |
inheritance | Is spondyloperipheral dysplasia inherited ? | This condition is probably 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 spondyloperipheral dysplasia ? | These resources address the diagnosis or management of spondyloperipheral dysplasia: - Genetic Testing Registry: Spondyloperipheral dysplasia - MedlinePlus Encyclopedia: Nearsightedness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic ... |
information | What is (are) platyspondylic lethal skeletal dysplasia, Torrance type ? | Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an e... |
frequency | How many people are affected by platyspondylic lethal skeletal dysplasia, Torrance type ? | This condition is very rare; only a few affected individuals have been reported worldwide. |
genetic changes | What are the genetic changes related to platyspondylic lethal skeletal dysplasia, Torrance type ? | Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in... |
inheritance | Is platyspondylic lethal skeletal dysplasia, Torrance 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 platyspondylic lethal skeletal dysplasia, Torrance type ? | These resources address the diagnosis or management of platyspondylic lethal skeletal dysplasia, Torrance type: - Genetic Testing Registry: Platyspondylic lethal skeletal dysplasia Torrance type - MedlinePlus Encyclopedia: Lordosis These resources from MedlinePlus offer information about the diagnosis and managemen... |
information | What is (are) Allan-Herndon-Dudley syndrome ? | Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to commun... |
frequency | How many people are affected by Allan-Herndon-Dudley syndrome ? | Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 families with individuals affected by this condition have been reported worldwide. |
genetic changes | What are the genetic changes related to Allan-Herndon-Dudley syndrome ? | Mutations in the SLC16A2 gene cause Allan-Herndon-Dudley syndrome. The SLC16A2 gene, also known as MCT8, provides instructions for making a protein that plays a critical role in the development of the nervous system. This protein transports a particular hormone into nerve cells in the developing brain. This hormone, ca... |
inheritance | Is Allan-Herndon-Dudley syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, 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 co... |
treatment | What are the treatments for Allan-Herndon-Dudley syndrome ? | These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedi... |
information | What is (are) triosephosphate isomerase deficiency ? | Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, increased susceptibility to infection, and muscle weakness that can affect breathing and heart function. The anemia in this condition begins in infancy. Since the anemia results from the prema... |
frequency | How many people are affected by triosephosphate isomerase deficiency ? | Triosephosphate isomerase deficiency is likely a rare condition; approximately 40 cases have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to triosephosphate isomerase deficiency ? | Mutations in the TPI1 gene cause triosephosphate isomerase deficiency. This gene provides instructions for making an enzyme called triosephosphate isomerase 1. This enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy... |
inheritance | Is triosephosphate isomerase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for triosephosphate isomerase deficiency ? | These resources address the diagnosis or management of triosephosphate isomerase deficiency: - Genetic Testing Registry: Triosephosphate isomerase deficiency - MedlinePlus Encyclopedia: Hemolytic Anemia - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? These resources from MedlinePlus o... |
information | What is (are) Clouston syndrome ? | Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and ... |
frequency | How many people are affected by Clouston syndrome ? | The prevalence of Clouston syndrome is unknown. Cases have been reported in many populations; the disorder is especially common among people of French-Canadian descent. |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.