Druvith/transformed_medDataset huggingface dataset:
What are the treatments for autoimmune polyglandular syndrome, type 1 ? 
 These resources address the diagnosis or management of autoimmune polyglandular syndrome, type 1:  - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, autosomal dominant  - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia  - Genetic Testing Registry: Polyglandular autoimmune syndrome, type 1  - MedlinePlus Encyclopedia: Addison's Disease  - MedlinePlus Encyclopedia: Autoimmune Disorders  - MedlinePlus Encyclopedia: Cutaneous Candidiasis  - MedlinePlus Encyclopedia: Hypoparathyroidism   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) Renpenning syndrome ? 
 Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella); a shortened space between the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. Seizures and wasting away (atrophy) of muscles used for movement (skeletal muscles) may also occur in this disorder.  About 20 percent of individuals with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), heart abnormalities, or malformations of the anus.  Certain combinations of the features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan syndrome. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome.
How many people are affected by Renpenning syndrome ? 
 Renpenning syndrome is a rare disorder; its prevalence is unknown. More than 60 affected individuals in at least 15 families have been identified.
What are the genetic changes related to Renpenning syndrome ? 
 Renpenning syndrome is caused by mutations in the PQBP1 gene. This gene provides instructions for making a protein called polyglutamine-binding protein 1. This protein attaches (binds) to stretches of multiple copies of a protein building block (amino acid) called glutamine in certain other proteins.  While the specific function of polyglutamine-binding protein 1 is not well understood, it is believed to play a role in processing and transporting RNA, a chemical cousin of DNA that serves as the genetic blueprint for the production of proteins.  In nerve cells (neurons) such as those in the brain, polyglutamine-binding protein 1 is found in structures called RNA granules. These granules allow the transport and storage of RNA within the cell. The RNA is held within the granules until the genetic information it carries is translated to produce proteins or until cellular signals or environmental factors trigger the RNA to be degraded. Through these mechanisms, polyglutamine-binding protein 1 is thought to help control the way genetic information is used (gene expression) in neurons. This control is important for normal brain development.  Most of the mutations in the PQBP1 gene that cause Renpenning syndrome result in an abnormally short polyglutamine-binding protein 1. The function of a shortened or otherwise abnormal protein is likely impaired and interferes with normal gene expression in neurons, resulting in abnormal development of the brain and the signs and symptoms of Renpenning syndrome.
Is Renpenning syndrome inherited ? 
 This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation typically has to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, 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.
What are the treatments for Renpenning syndrome ? 
 These resources address the diagnosis or management of Renpenning syndrome:  - Genetic Testing Registry: Renpenning syndrome 1  - Greenwood Genetics Center: X-Linked Intellectual Disability  - Kennedy Krieger Institute: Center for Genetic Disorders of Cognition and Behavior   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) Asperger syndrome ? 
 Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for their differences and live independent and successful lives. However, the behavioral challenges associated with this condition often lead to social isolation and difficulties at school, at work, and in personal relationships.  People with Asperger syndrome have average or above-average intelligence. In contrast to people with other disorders on the autism spectrum, they are not delayed in their language development. However, their ability to carry on a conversation is often impaired by a tendency to take idioms or humorous statements literally and an inability to read non-verbal cues such as body language to understand what others are feeling. They may speak in a monotone voice, have unusual mannerisms, or choose unusual topics of conversation.  Individuals with Asperger syndrome tend to develop an intense interest in a particular subject. This interest may be a traditional hobby or academic discipline, and many people with Asperger syndrome develop advanced abilities in fields such as music, science, mathematics, or computer programming. However, they might also focus on an unusual interest such as bus routes or a particular type of household appliance. Often they are able to remember enormous amounts of detail on their subject of interest. They may want to share this large amount of information with others and may resist diversion to other topics.  People with Asperger syndrome tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as noise or lights.  Other features of Asperger syndrome may include mild impairment of motor skills. For example, basic skills such as crawling and walking may be somewhat delayed. Affected individuals may also have coordination problems that impair their ability to engage in such activities as playing ball games or riding a bicycle. This physical clumsiness may lead to further social isolation of children with Asperger syndrome.  Signs and symptoms of Asperger syndrome may become apparent by the age of 3, when most children begin to develop social skills such as learning to play with others. Some affected children may come to medical attention due to delayed motor skills. In most cases, children with Asperger syndrome are diagnosed during the elementary school years, as their social behavior continues to diverge from the typical developmental path. Difficulties with social skills generally continue into adulthood, and affected individuals are at increased risk of other behavioral or psychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), depression, anxiety, and obsessive-compulsive disorder.
How many people are affected by Asperger syndrome ? 
 The prevalence of Asperger syndrome is not well established. Estimates range from 1 in 250 to 1 in 5,000 children. Three to four times as many males are affected than females.  Because of changes in the way developmental disorders are classified, Asperger syndrome was not often diagnosed in adults until recently, and the prevalence is often perceived to be rising as more people are recognized to have features of the condition. Many mildly affected individuals likely continue to be undiagnosed.
What are the genetic changes related to Asperger syndrome ? 
 While genetic factors are believed to contribute to the development of Asperger syndrome, no related genes have been confirmed. It is unclear whether certain gene variations that are being studied in other autism spectrum disorders will play a role in Asperger syndrome. It appears likely that a combination of genetic variations and environmental factors influence the development of this complex condition.  Asperger syndrome is a disorder of brain development. Researchers have identified differences in the structure and function of specific regions of the brain between children with Asperger syndrome and unaffected children. These differences likely arise during development before birth, when cells in the brain are migrating to their proper places.  The differences in brain development that occur in Asperger syndrome appear to affect areas of the brain involved in thought, behavior, and emotions, such as the prefrontal cortex, the amygdala, and the fusiform face area. In particular, cognitive functions called theory of mind, central coherence, and executive function are affected.  Theory of mind is the ability to understand that other people have their own ideas, emotions, and perceptions, and to empathize with them. It is related to the proper functioning of a brain mechanism called the mirror neuron system, which is normally active both when certain actions are performed and when others are observed performing the same actions. Researchers believe that the mirror neuron system is impaired in people with Asperger syndrome.  Central coherence is the ability to integrate individual perceptions into a larger context, commonly known as "seeing the big picture." For example, a person with Asperger syndrome may be able to describe individual trees in great detail without recognizing that they are part of a forest.  Executive function is the ability to plan and implement actions and develop problem-solving strategies. This function includes skills such as impulse control, self-monitoring, focusing attention appropriately, and cognitive flexibility. People with deficits in these skills may have difficulty in some activities of daily living and in social interactions.  The differences in cognitive functioning observed in people with Asperger syndrome are believed to give rise to the behavioral patterns characteristic of this condition.
Is Asperger syndrome inherited ? 
 Autism spectrum disorders including Asperger syndrome have a tendency to run in families, but the inheritance pattern is unknown.
What are the treatments for Asperger syndrome ? 
 These resources address the diagnosis or management of Asperger syndrome:  - Genetic Testing Registry: Asperger syndrome 1  - Genetic Testing Registry: Asperger syndrome 2  - Genetic Testing Registry: Asperger syndrome 3  - Genetic Testing Registry: Asperger syndrome 4  - Genetic Testing Registry: Asperger syndrome X-linked 1  - Genetic Testing Registry: Asperger syndrome X-linked 2  - Genetic Testing Registry: Asperger's disorder  - MedlinePlus Encyclopedia: Asperger Syndrome  - National Institute of Mental Health: How is ASD treated?   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) retroperitoneal fibrosis ? 
 Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. Retroperitoneal fibrosis can occur at any age but appears most frequently between the ages of 40 and 60.  The inflamed tissue characteristic of retroperitoneal fibrosis typically causes gradually increasing pain in the lower abdomen, back, or side. Other symptoms arise from blockage of blood flow to and from various parts of the lower body, due to the development of scar tissue around blood vessels. The fibrosis usually develops first around the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Additional blood vessels including the inferior vena cava, which returns blood from the lower part of the body to the heart, may also be involved. Obstruction of blood flow to and from the legs can result in pain, changes in color, and swelling in these limbs. Impairment of blood flow in the intestines may lead to death (necrosis) of intestinal tissue, severe pain, and excessive bleeding (hemorrhage). In men, reduced blood flow back toward the heart (venous flow) may cause swelling of the scrotum.  Because the kidneys are located in the retroperitoneal space, retroperitoneal fibrosis may result in blockage of the ureters, which are tubes that carry urine from each kidney to the bladder. Such blockages can lead to decreased or absent urine flow and kidney failure. When the kidneys fail, toxic substances build up in the blood and tissues, leading to nausea, vomiting, weight loss, itching, a low number of red blood cells (anemia), and changes in brain function.
How many people are affected by retroperitoneal fibrosis ? 
 Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. The disorder occurs approximately twice as often in men as it does in women, but the reason for this difference is unclear.
What are the genetic changes related to retroperitoneal fibrosis ? 
 No genes associated with retroperitoneal fibrosis have been identified.  Retroperitoneal fibrosis occasionally occurs with autoimmune disorders, which result when the immune system malfunctions and attacks the body's own organs and tissues. Researchers suggest that the immune system may be involved in the development of retroperitoneal fibrosis. They propose that the immune system may be reacting abnormally to blood vessels damaged by fatty buildup (atherosclerosis) or to certain drugs, infections, or trauma. In many cases, the reason for the abnormal immune system reaction is unknown. Such cases are described as idiopathic.
Is retroperitoneal fibrosis inherited ? 
 Most cases of retroperitoneal fibrosis are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In rare cases, the condition has been reported to occur in a few members of the same family, but the inheritance pattern is unknown.
What are the treatments for retroperitoneal fibrosis ? 
 These resources address the diagnosis or management of retroperitoneal fibrosis:  - Johns Hopkins Medicine   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) Legg-Calv-Perthes disease ? 
 Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls.  In this condition, the upper end of the thigh bone, known as the femoral head, breaks down. As a result, the femoral head is no longer round and does not move easily in the hip socket, which leads to hip pain, limping, and restricted leg movement. The bone eventually begins to heal itself through a normal process called bone remodeling, by which old bone is removed and new bone is created to replace it. This cycle of breakdown and healing can recur multiple times. Affected individuals are often shorter than their peers due to the bone abnormalities. Many people with Legg-Calv-Perthes disease go on to develop a painful joint disorder called osteoarthritis in the hips at an early age.
How many people are affected by Legg-Calv-Perthes disease ? 
 The incidence of Legg-Calv-Perthes disease varies by population. The condition is most common in white populations, in which it affects an estimated 1 to 3 in 20,000 children under age 15.
What are the genetic changes related to Legg-Calv-Perthes disease ? 
 Legg-Calv-Perthes disease is usually not caused by genetic factors. The cause in these cases is unknown. In a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calv-Perthes disease. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework.  COL2A1 gene mutations involved in Legg-Calv-Perthes disease lead to production of an altered protein; collagen that contains this protein may be less stable than normal. Researchers speculate that the breakdown of bone characteristic of Legg-Calv-Perthes disease is caused by impaired blood flow to the femoral head, which leads to death of the bone tissue (osteonecrosis); however it is unclear how abnormal type II collagen is involved in this process or why the hips are specifically affected.
Is Legg-Calv-Perthes disease inherited ? 
 When associated with COL2A1 gene mutations, the condition is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder.  Most COL2A1-associated cases result from new mutations in the gene and occur in people with no history of the disorder in their family. These cases are referred to as sporadic. In other cases, the condition is passed through families. In these cases, referred to as familial, an affected person inherits the mutation from one affected parent.
What are the treatments for Legg-Calv-Perthes disease ? 
 These resources address the diagnosis or management of Legg-Calv-Perthes disease:  - National Osteonecrosis Foundation  - Seattle Children's Hospital   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) Beckwith-Wiedemann syndrome ? 
 Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.  The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities.  Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood.  Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.
How many people are affected by Beckwith-Wiedemann syndrome ? 
 Beckwith-Wiedemann syndrome affects an estimated 1 in 13,700 newborns worldwide. The condition may actually be more common than this estimate because some people with mild symptoms are never diagnosed.