qtype stringclasses 16
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genetic changes | What are the genetic changes related to breast cancer ? | Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. In most cases of breast cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells i... |
inheritance | Is breast cancer inherited ? | Most cases of breast cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations in breast cells that are acquired during a person's lifetime, and they do not cluster in families. In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved... |
treatment | What are the treatments for breast cancer ? | These resources address the diagnosis or management of breast cancer: - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Gene Review: Gene Review: Li-Fraumeni Syndrome - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome ... |
information | What is (are) Kniest dysplasia ? | Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals hav... |
frequency | How many people are affected by Kniest dysplasia ? | Kniest dysplasia is a rare condition; the exact incidence is unknown. |
genetic changes | What are the genetic changes related to Kniest dysplasia ? | Kniest 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 tough, flexi... |
inheritance | Is Kniest dysplasia 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 Kniest dysplasia ? | These resources address the diagnosis or management of Kniest dysplasia: - Genetic Testing Registry: Kniest dysplasia - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) cystinosis ? | Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thy... |
frequency | How many people are affected by cystinosis ? | Cystinosis affects approximately 1 in 100,000 to 200,000 newborns worldwide. The incidence is higher in the province of Brittany, France, where the disorder affects 1 in 26,000 individuals. |
genetic changes | What are the genetic changes related to cystinosis ? | All three types of cystinosis are caused by mutations in the CTNS gene. Mutations in this gene lead to a deficiency of a transporter protein called cystinosin. Within cells, this protein normally moves cystine out of the lysosomes, which are compartments in the cell that digest and recycle materials. When cystinosin is... |
inheritance | Is cystinosis 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 cystinosis ? | These resources address the diagnosis or management of cystinosis: - Cystinosis Research Foundation: Treatment - Cystinosis Research Network: Symptoms and Treatment - Gene Review: Gene Review: Cystinosis - Genetic Testing Registry: Cystinosis - Genetic Testing Registry: Cystinosis, ocular nonnephropathic - Geneti... |
information | What is (are) mal de Meleda ? | Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands an... |
frequency | How many people are affected by mal de Meleda ? | Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder was first identified on the Croatian island of Mjlet (called Meleda in Italian) and has since been found in populations worldwide. |
genetic changes | What are the genetic changes related to mal de Meleda ? | Mal de Meleda is caused by mutations in the SLURP1 gene. This gene provides instructions for making a protein that interacts with other proteins, called receptors, and is likely involved in signaling within cells. Studies show that the SLURP-1 protein can attach (bind) to nicotinic acetylcholine receptors (nAChRs) in t... |
inheritance | Is mal de Meleda 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 mal de Meleda ? | These resources address the diagnosis or management of mal de Meleda: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Acroerythrokeratoderma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... |
information | What is (are) familial hypobetalipoproteinemia ? | Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affec... |
frequency | How many people are affected by familial hypobetalipoproteinemia ? | FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals. |
genetic changes | What are the genetic changes related to familial hypobetalipoproteinemia ? | Most cases of FHBL are caused by mutations in the APOB gene. This gene provides instructions for making two versions of the apolipoprotein B protein: a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. Both of these proteins are components of lipoproteins, which transport fats... |
inheritance | Is familial hypobetalipoproteinemia inherited ? | This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cau... |
treatment | What are the treatments for familial hypobetalipoproteinemia ? | These resources address the diagnosis or management of familial hypobetalipoproteinemia: - Genetic Testing Registry: Familial hypobetalipoproteinemia - Genetic Testing Registry: Hypobetalipoproteinemia, familial, 2 These resources from MedlinePlus offer information about the diagnosis and management of various heal... |
information | What is (are) guanidinoacetate methyltransferase deficiency ? | Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recur... |
frequency | How many people are affected by guanidinoacetate methyltransferase deficiency ? | Guanidinoacetate methyltransferase deficiency is a very rare disorder. About 80 affected individuals have been described in the medical literature. Of these, approximately one-third are of Portuguese origin. |
genetic changes | What are the genetic changes related to guanidinoacetate methyltransferase deficiency ? | Mutations in the GAMT gene cause guanidinoacetate methyltransferase deficiency. The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, a... |
inheritance | Is guanidinoacetate methyltransferase 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 guanidinoacetate methyltransferase deficiency ? | These resources address the diagnosis or management of guanidinoacetate methyltransferase deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Deficiency of guanidinoacetate methyltransferase These resources from MedlinePlus offer information about the diagnosis and mana... |
information | What is (are) 3-methylcrotonyl-CoA carboxylase deficiency ? | 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine... |
frequency | How many people are affected by 3-methylcrotonyl-CoA carboxylase deficiency ? | This condition is detected in an estimated 1 in 36,000 newborns worldwide. |
genetic changes | What are the genetic changes related to 3-methylcrotonyl-CoA carboxylase deficiency ? | Mutations in the MCCC1 or MCCC2 gene can cause 3-MCC deficiency. These two genes provide instructions for making different parts (subunits) of an enzyme called 3-methylcrotonyl-coenzyme A carboxylase (3-MCC). This enzyme plays a critical role in breaking down proteins obtained from the diet. Specifically, 3-MCC is resp... |
inheritance | Is 3-methylcrotonyl-CoA carboxylase 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-methylcrotonyl-CoA carboxylase deficiency ? | These resources address the diagnosis or management of 3-MCC deficiency: - Baby's First Test - Genetic Testing Registry: 3 Methylcrotonyl-CoA carboxylase 1 deficiency - Genetic Testing Registry: 3-methylcrotonyl CoA carboxylase 2 deficiency - Genetic Testing Registry: Methylcrotonyl-CoA carboxylase deficiency The... |
information | What is (are) multiple epiphyseal dysplasia ? | Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have rela... |
frequency | How many people are affected by multiple epiphyseal dysplasia ? | The incidence of dominant multiple epiphyseal dysplasia is estimated to be at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal dysplasia is unknown. Both forms of this disorder may actually be more common because some people with mild symptoms are never diagnosed. |
genetic changes | What are the genetic changes related to multiple epiphyseal dysplasia ? | Mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 gene can cause dominant multiple epiphyseal dysplasia. These genes provide instructions for making proteins that are found in the spaces between cartilage-forming cells (chondrocytes). These proteins interact with each other and play an important role in cartilage... |
inheritance | Is multiple epiphyseal dysplasia inherited ? | Multiple epiphyseal dysplasia can have different inheritance patterns. This condition can be 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 cas... |
treatment | What are the treatments for multiple epiphyseal dysplasia ? | These resources address the diagnosis or management of multiple epiphyseal dysplasia: - Cedars-Sinai Medical Center - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Dominant - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Recessive - Genetic Testing Registry: Multiple epiphyseal dysplasia 1 - ... |
information | 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... |
frequency | How many people are affected by autosomal dominant partial epilepsy with auditory features ? | This condition appears to be uncommon, although its prevalence is unknown. |
genetic changes | 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... |
inheritance | 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... |
treatment | 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... |
information | What is (are) hereditary hypophosphatemic rickets ? | Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth. In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features... |
frequency | How many people are affected by hereditary hypophosphatemic rickets ? | X-linked hypophosphatemic rickets is the most common form of rickets that runs in families. It affects about 1 in 20,000 newborns. Each of the other forms of hereditary hypophosphatemic rickets has been identified in only a few families. |
genetic changes | What are the genetic changes related to hereditary hypophosphatemic rickets ? | Hereditary hypophosphatemic rickets can result from mutations in several genes. Mutations in the PHEX gene, which are responsible for X-linked hypophosphatemic rickets, occur most frequently. Mutations in other genes cause the less common forms of the condition. Hereditary hypophosphatemic rickets is characterized by ... |
inheritance | Is hereditary hypophosphatemic rickets inherited ? | Hereditary hypophosphatemic rickets can have several patterns of inheritance. When the condition results from mutations in the PHEX gene, it is inherited in an X-linked dominant pattern. The PHEX gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mut... |
treatment | What are the treatments for hereditary hypophosphatemic rickets ? | These resources address the diagnosis or management of hereditary hypophosphatemic rickets: - Gene Review: Gene Review: X-Linked Hypophosphatemia - Genetic Testing Registry: Autosomal dominant hypophosphatemic rickets - Genetic Testing Registry: Autosomal recessive hypophosphatemic bone disease - Genetic Testing Re... |
information | What is (are) Glanzmann thrombasthenia ? | Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by b... |
frequency | How many people are affected by Glanzmann thrombasthenia ? | Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community. |
genetic changes | What are the genetic changes related to Glanzmann thrombasthenia ? | Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are... |
inheritance | Is Glanzmann thrombasthenia 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 Glanzmann thrombasthenia ? | These resources address the diagnosis or management of Glanzmann thrombasthenia: - CLIMB Glanzmann Thrombasthenia Info Sheet - Canadian Hemophilia Society: Glanzmann Thrombasthenia Information Booklet - Genetic Testing Registry: Glanzmann's thrombasthenia - MedlinePlus Encyclopedia: Glanzmann's Disease These reso... |
information | What is (are) neuroferritinopathy ? | Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involunt... |
frequency | How many people are affected by neuroferritinopathy ? | The prevalence of neuroferritinopathy is unknown. Fewer than 100 individuals with this disorder have been reported. |
genetic changes | What are the genetic changes related to neuroferritinopathy ? | Mutations in the FTL gene cause neuroferritinopathy. The FTL gene provides instructions for making the ferritin light chain, which is one part (subunit) of a protein called ferritin. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms. This storage capacity allows fer... |
inheritance | Is neuroferritinopathy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people w... |
treatment | What are the treatments for neuroferritinopathy ? | These resources address the diagnosis or management of neuroferritinopathy: - Gene Review: Gene Review: Neuroferritinopathy - Genetic Testing Registry: Neuroferritinopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... |
information | What is (are) Diamond-Blackfan anemia ? | Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usual... |
frequency | How many people are affected by Diamond-Blackfan anemia ? | Diamond-Blackfan anemia affects approximately 5 to 7 per million liveborn infants worldwide. |
genetic changes | What are the genetic changes related to Diamond-Blackfan anemia ? | Diamond-Blackfan anemia can be caused by mutations in the RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 genes. These genes provide instructions for making several of the approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the ... |
inheritance | Is Diamond-Blackfan anemia 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 approximately 45 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and... |
treatment | What are the treatments for Diamond-Blackfan anemia ? | These resources address the diagnosis or management of Diamond-Blackfan anemia: - Gene Review: Gene Review: Diamond-Blackfan Anemia - Genetic Testing Registry: Aase syndrome - Genetic Testing Registry: Diamond-Blackfan anemia - Genetic Testing Registry: Diamond-Blackfan anemia 10 - Genetic Testing Registry: Diamon... |
information | What is (are) 1p36 deletion syndrome ? | 1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more th... |
frequency | How many people are affected by 1p36 deletion syndrome ? | 1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some affected individuals are likely never diagnosed. |
genetic changes | What are the genetic changes related to 1p36 deletion syndrome ? | 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. |
inheritance | Is 1p36 deletion syndrome inherited ? | Most cases of 1p36 deletion 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. About 20 percent of people w... |
treatment | What are the treatments for 1p36 deletion syndrome ? | These resources address the diagnosis or management of 1p36 deletion syndrome: - Gene Review: Gene Review: 1p36 Deletion Syndrome - Genetic Testing Registry: Chromosome 1p36 deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... |
information | What is (are) Crouzonodermoskeletal syndrome ? | Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syn... |
frequency | How many people are affected by Crouzonodermoskeletal syndrome ? | Crouzonodermoskeletal syndrome is rare; this condition is seen in about 1 person per million. |
genetic changes | What are the genetic changes related to Crouzonodermoskeletal syndrome ? | Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. It remains unclear how a mutation in the FGFR3 gene leads to the characteristic features of Crouzonodermoskeletal syn... |
inheritance | Is Crouzonodermoskeletal 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 some cases, an affected person inherits the mutation from one affected parent. More commonly, this condition results from new mutations in the gene. These cases oc... |
treatment | What are the treatments for Crouzonodermoskeletal syndrome ? | These resources address the diagnosis or management of Crouzonodermoskeletal syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome with acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Craniosynosto... |
information | What is (are) osteoglophonic dysplasia ? | Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images. Prem... |
frequency | How many people are affected by osteoglophonic dysplasia ? | Osteoglophonic dysplasia is a rare disorder; its prevalence is unknown. Only about 15 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to osteoglophonic dysplasia ? | Osteoglophonic dysplasia is caused by mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1. This protein is one of four fibroblast growth factor receptors, which are related proteins that bind (attach) to other proteins called fibroblast growth factors... |
inheritance | Is osteoglophonic dysplasia 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. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. However, some affected individuals inherit the mu... |
treatment | What are the treatments for osteoglophonic dysplasia ? | These resources address the diagnosis or management of osteoglophonic dysplasia: - Genetic Testing Registry: Osteoglophonic dysplasia - Seattle Children's Hospital: Dwarfism and Bone Dysplasias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Dia... |
information | What is (are) Schimke immuno-osseous dysplasia ? | Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. Adult height is typically between 3 and 5 feet. Kidney (ren... |
frequency | How many people are affected by Schimke immuno-osseous dysplasia ? | Schimke immuno-osseous dysplasia is a very rare condition. The prevalence in North America is estimated to be one in 1 million to 3 million people. |
genetic changes | What are the genetic changes related to Schimke immuno-osseous dysplasia ? | Mutations in the SMARCAL1 gene increase the risk of Schimke immuno-osseous dysplasia. The SMARCAL1 gene provides instructions for producing a protein whose specific function is unknown. The SMARCAL1 protein can attach (bind) to chromatin, which is the complex of DNA and protein that packages DNA into chromosomes. Based... |
inheritance | Is Schimke immuno-osseous dysplasia inherited ? | Mutations in the SMARCAL1 gene are inherited in an autosomal recessive pattern, which means that an increased risk of Schimke immuno-osseous dysplasia results from mutations in both copies of the SMARCAL1 gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mu... |
treatment | What are the treatments for Schimke immuno-osseous dysplasia ? | These resources address the diagnosis or management of Schimke immuno-osseous dysplasia: - Gene Review: Gene Review: Schimke Immunoosseous Dysplasia - Genetic Testing Registry: Schimke immunoosseous dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health con... |
information | What is (are) oculocutaneous albinism ? | Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin ca... |
frequency | How many people are affected by oculocutaneous albinism ? | Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. The condition affects people in many ethnic groups and geographical regions. Types 1 and 2 are the most common forms of this condition; types 3 and 4 are less common. Type 2 occurs more frequently in African Americans, some Native... |
genetic changes | What are the genetic changes related to oculocutaneous albinism ? | Oculocutaneous albinism can result from mutations in several genes, including TYR, OCA2, TYRP1, and SLC45A2. Changes in the TYR gene cause type 1; mutations in the OCA2 gene are responsible for type 2; TYRP1 mutations cause type 3; and changes in the SLC45A2 gene result in type 4. Mutations in additional genes likely u... |
inheritance | Is oculocutaneous albinism inherited ? | Oculocutaneous albinism is inherited in an autosomal recessive pattern, which means both copies of a 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 they do not show signs and symptoms of the condition. |
treatment | What are the treatments for oculocutaneous albinism ? | These resources address the diagnosis or management of oculocutaneous albinism: - Gene Review: Gene Review: Oculocutaneous Albinism Type 1 - Gene Review: Gene Review: Oculocutaneous Albinism Type 2 - Gene Review: Gene Review: Oculocutaneous Albinism Type 4 - Genetic Testing Registry: Oculocutaneous albinism - Medl... |
information | What is (are) allergic asthma ? | Asthma is a breathing disorder characterized by inflammation of the airways and recurrent episodes of breathing difficulty. These episodes, sometimes referred to as asthma attacks, are triggered by irritation of the inflamed airways. In allergic asthma, the attacks occur when substances known as allergens are inhaled, ... |
frequency | How many people are affected by allergic asthma ? | Approximately 235 million people worldwide have asthma. In the United States, the condition affects an estimated 8 percent of the population. In nearly 90 percent of children and 50 percent of adults with asthma, the condition is classified as allergic asthma. |
genetic changes | What are the genetic changes related to allergic asthma ? | The cause of allergic asthma is complex. It is likely that a combination of multiple genetic and environmental factors contribute to development of the condition. Doctors believe genes are involved because having a family member with allergic asthma or another allergic disorder increases a person's risk of developing a... |
inheritance | Is allergic asthma inherited ? | Allergic asthma can be passed through generations in families, but the inheritance pattern is unknown. People with mutations in one or more of the associated genes inherit an increased risk of allergic asthma, not the condition itself. Because allergic asthma is a complex condition influenced by genetic and environment... |
treatment | What are the treatments for allergic asthma ? | These resources address the diagnosis or management of allergic asthma: - American Academy of Allergy Asthma and Immunology: Asthma Treatment and Management - Genetic Testing Registry: Asthma, atopic - Genetic Testing Registry: Asthma, susceptibility to These resources from MedlinePlus offer information about the ... |
information | What is (are) ovarian cancer ? | Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases... |
frequency | How many people are affected by ovarian cancer ? | Ovarian cancer affects about 12 in 100,000 women per year. |
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