Druvith/transformed_medDataset huggingface dataset:
What are the genetic changes related to 48,XXYY syndrome ? 
 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 48,XXYY syndrome results from the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). Extra copies of genes on the X chromosome interfere with male sexual development, preventing the testes from functioning normally and reducing the levels of testosterone. Many genes are found only on the X or Y chromosome, but genes in areas known as the pseudoautosomal regions are present on both sex chromosomes. Extra copies of genes from the pseudoautosomal regions of the extra X and Y chromosome contribute to the signs and symptoms of 48,XXYY syndrome; however, the specific genes have not been identified.
Is 48,XXYY syndrome inherited ? 
 This condition is not inherited; it usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. In 48,XXYY syndrome, the extra sex chromosomes almost always come from a sperm cell. Nondisjunction may cause a sperm cell to gain two extra sex chromosomes, resulting in a sperm cell with three sex chromosomes (one X and two Y chromosomes). If that sperm cell fertilizes a normal egg cell with one X chromosome, the resulting child will have two X chromosomes and two Y chromosomes in each of the body's cells.  In a small percentage of cases, 48,XXYY syndrome results from nondisjunction of the sex chromosomes in a 46,XY embryo very soon after fertilization has occurred. This means that an normal sperm cell with one Y chromosome fertilized a normal egg cell with one X chromosome, but right after fertilization nondisjunction of the sex chromosomes caused the embryo to gain two extra sex chromosomes, resulting in a 48,XXYY embryo.
What are the treatments for 48,XXYY syndrome ? 
 These resources address the diagnosis or management of 48,XXYY syndrome:  - Genetic Testing Registry: XXYY syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) X-linked spondyloepiphyseal dysplasia tarda ? 
 X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10.  Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short trunk and neck, and their arms appear disproportionately long. Impaired growth of the spinal bones (vertebrae) causes the short stature seen in this disorder. The spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and decreased mobility of the elbow and hip joints. Arthritis often develops in early adulthood, typically affecting the hip joints and spine.
How many people are affected by X-linked spondyloepiphyseal dysplasia tarda ? 
 The prevalence of X-linked spondyloepiphyseal dysplasia tarda is estimated to be 1 in 150,000 to 200,000 people worldwide.
What are the genetic changes related to X-linked spondyloepiphyseal dysplasia tarda ? 
 Mutations in the TRAPPC2 gene (often called the SEDL gene) cause X-linked spondyloepiphyseal dysplasia tarda. The TRAPPC2 gene provides instructions for producing the protein sedlin. The function of sedlin is unclear. Researchers believe that sedlin is part of a large molecule called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between various cell compartments (organelles). Because sedlin is active (expressed) in cells throughout the body; it is unclear why mutations in the TRAPPC2 gene affect only bone growth.
Is X-linked spondyloepiphyseal dysplasia tarda inherited ? 
 X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive pattern. The TRAPPC2 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. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a TRAPPC2 mutation may develop arthritis in early adulthood.
What are the treatments for X-linked spondyloepiphyseal dysplasia tarda ? 
 These resources address the diagnosis or management of X-linked spondyloepiphyseal dysplasia tarda:  - Gene Review: Gene Review: X-Linked Spondyloepiphyseal Dysplasia Tarda  - Genetic Testing Registry: Spondyloepiphyseal dysplasia tarda   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) Fuchs endothelial dystrophy ? 
 Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.  Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread. These guttae contribute to the loss of cells in the cornea, leading to vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain.  The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties.
How many people are affected by Fuchs endothelial dystrophy ? 
 The late-onset form of Fuchs endothelial dystrophy is a common condition, affecting approximately 4 percent of people over the age of 40. The early-onset variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is unknown.  For reasons that are unclear, women are affected with Fuchs endothelial dystrophy somewhat more frequently than men.
What are the genetic changes related to Fuchs endothelial dystrophy ? 
 The genetics of Fuchs endothelial dystrophy are unclear. Researchers have identified regions of a few chromosomes and several genes that they think may play a role in the development of Fuchs endothelial dystrophy, but many of these associations need to be further tested.  Fuchs endothelial dystrophy affects a thin layer of cells that line the back of the cornea, called corneal endothelial cells. These cells regulate the amount of fluid inside the cornea. An appropriate fluid balance in the cornea is necessary for clear vision. Fuchs endothelial dystrophy occurs when the endothelial cells die, and the cornea becomes swollen with too much fluid. Corneal endothelial cells continue to die over time, resulting in further vision problems. It is thought that mutations in genes that are active (expressed) primarily in corneal endothelial cells or surrounding tissue may lead to the death of corneal endothelial cells, resulting in Fuchs endothelial dystrophy.  Some cases of the early-onset variant of Fuchs endothelial dystrophy are caused by mutations in the COL8A2 gene. This gene provides instructions for making a protein that is part of type VIII collagen. Type VIII collagen is largely found within the cornea, surrounding the endothelial cells. Specifically, type VIII collagen is a major component of a tissue at the back of the cornea, called Descemet's membrane. This membrane is a thin, sheet-like structure that separates and supports corneal endothelial cells. COL8A2 gene mutations that cause the early-onset variant of Fuchs endothelial dystrophy lead to an abnormal Descemet's membrane, which causes the cells to die and leads to the vision problems in people with this condition.  Mutations in unidentified genes are also likely to cause the early-onset variant of Fuchs endothelial dystrophy. The genetic causes of the late-onset form of the disorder are unknown.
Is Fuchs endothelial dystrophy inherited ? 
 In some cases, Fuchs endothelial dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is apparent in some situations in which the condition is caused by alterations in an unknown gene.  In many families, the inheritance pattern is unknown.  Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family.
What are the treatments for Fuchs endothelial dystrophy ? 
 These resources address the diagnosis or management of Fuchs endothelial dystrophy:  - Duke Eye Center: Corneal Disease  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial 1  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 2  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 3  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 4  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 5  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 6  - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 7  - MedlinePlus Encyclopedia: Fuchs Dystrophy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) Weyers acrofacial dysostosis ? 
 Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly).  The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.
How many people are affected by Weyers acrofacial dysostosis ? 
 Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide.
What are the genetic changes related to Weyers acrofacial dysostosis ? 
 Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene. A mutation in a similar gene, EVC, has been found in at least one person with the characteristic features of the disorder. Little is known about the function of the EVC and EVC2 genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from these genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body.  The mutations that cause Weyers acrofacial dysostosis result in the production of an abnormal EVC or EVC2 protein. It is unclear how the abnormal proteins lead to the specific signs and symptoms of this condition. Studies suggest that they interfere with Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the teeth, nails, and bones.
Is Weyers acrofacial dysostosis inherited ? 
 Weyers acrofacial dysostosis is inherited in an autosomal dominant pattern, which means one copy of the altered EVC or EVC2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from a parent who has the condition.
What are the treatments for Weyers acrofacial dysostosis ? 
 These resources address the diagnosis or management of Weyers acrofacial dysostosis:  - Genetic Testing Registry: Curry-Hall syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) phenylketonuria ? 
 Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.  The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema.  Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment with a low-phenylalanine diet.  Babies born to mothers with PKU and uncontrolled phenylalanine levels (women who no longer follow a low-phenylalanine diet) have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. These infants may also have a low birth weight and grow more slowly than other children. Other characteristic medical problems include heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems. Women with PKU and uncontrolled phenylalanine levels also have an increased risk of pregnancy loss.
How many people are affected by phenylketonuria ? 
 The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen.
What are the genetic changes related to phenylketonuria ? 
 Mutations in the PAH gene cause phenylketonuria.  The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the diet is not processed effectively. As a result, this amino acid can build up to toxic levels in the blood and other tissues. Because nerve cells in the brain are particularly sensitive to phenylalanine levels, excessive amounts of this substance can cause brain damage.  Classic PKU, the most severe form of the disorder, occurs when phenylalanine hydroxylase activity is severely reduced or absent. People with untreated classic PKU have levels of phenylalanine high enough to cause severe brain damage and other serious medical problems. Mutations in the PAH gene that allow the enzyme to retain some activity result in milder versions of this condition, such as variant PKU or non-PKU hyperphenylalaninemia.  Changes in other genes may influence the severity of PKU, but little is known about these additional genetic factors.
Is phenylketonuria 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.
What are the treatments for phenylketonuria ? 
 These resources address the diagnosis or management of phenylketonuria:  - Baby's First Test  - Gene Review: Gene Review: Phenylalanine Hydroxylase Deficiency  - Genetic Testing Registry: Phenylketonuria  - MedlinePlus Encyclopedia: Phenylketonuria  - MedlinePlus Encyclopedia: Serum Phenylalanine Screening   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) multiple sclerosis ? 
 Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.  Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse.  There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen.  Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40.  Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.
How many people are affected by multiple sclerosis ? 
 An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. Although the reason is unclear, this condition is more common in regions that are farther away from the equator. In Canada, parts of the northern United States, western and northern Europe, Russia, and southeastern Australia, the condition affects approximately 1 in 2,000 to 2,400 people. It is less common closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 in 20,000 people are affected. For unknown reasons, most forms of multiple sclerosis affect women twice as often as men; however, women and men are equally affected by primary progressive MS.