sarnsrun/medquad huggingface dataset:
Topic: craniofacial microsomia
Question: What is (are) craniofacial microsomia ?
Answer: Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.  People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.  Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.  Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.
Source: GHR
Topic: craniofacial microsomia
Question: How many people are affected by craniofacial microsomia ?
Answer: Craniofacial microsomia has been estimated to occur in between 1 in 5,600 and 1 in 26,550 newborns. However, this range may be an underestimate because not all medical professionals agree on the criteria for diagnosis of this condition, and because mild cases may never come to medical attention. For reasons that are unclear, the disorder occurs about 50 percent more often in males than in females.
Source: GHR
Topic: craniofacial microsomia
Question: What are the genetic changes related to craniofacial microsomia ?
Answer: It is unclear what genes are involved in craniofacial microsomia. This condition results from problems in the development of structures in the embryo called the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six pairs of pharyngeal arches give rise to the muscles, arteries, nerves, and cartilage of the face and neck. Specifically, the first and second pharyngeal arches develop into the lower jaw, the nerves and muscles used for chewing and facial expression, the external ear, and the bones of the middle ear. Interference with the normal development of these structures can result in the abnormalities characteristic of craniofacial microsomia.  There are several factors that can disrupt the normal development of the first and second pharyngeal arches and lead to craniofacial microsomia. Some individuals with this condition have chromosomal abnormalities such as deletions or duplications of genetic material; these individuals often have additional developmental problems or malformations. Occasionally, craniofacial microsomia occurs in multiple members of a family in a pattern that suggests inheritance of a causative gene mutation, but the gene or genes involved are unknown. In other families, individuals seem to inherit a predisposition to the disorder. The risk of craniofacial microsomia can also be increased by environmental factors, such as certain drugs taken by the mother during pregnancy. In most affected individuals, the cause of the disorder is unknown.  It is not well understood why certain disruptions to development affect the first and second pharyngeal arches in particular. Researchers suggest that these structures may develop together in such a way that they respond as a unit to these disruptions.
Source: GHR
Topic: craniofacial microsomia
Question: Is craniofacial microsomia inherited ?
Answer: Craniofacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their family.  In 1 to 2 percent of cases, craniofacial microsomia is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of a 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. The gene or genes involved in craniofacial microsomia are unknown.  In some affected families, people seem to inherit an increased risk of developing craniofacial microsomia, not the condition itself. In these cases, some combination of genetic changes and environmental factors may be involved.
Source: GHR
Topic: craniofacial microsomia
Question: What are the treatments for craniofacial microsomia ?
Answer: These resources address the diagnosis or management of craniofacial microsomia:  - Children's Hospital and Medical Center of the University of Nebraska  - Gene Review: Gene Review: Craniofacial Microsomia Overview  - Genetic Testing Registry: Goldenhar syndrome  - Seattle Children's Hospital  - Virginia Commonwealth University   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
Source: GHR
Topic: branchio-oculo-facial syndrome
Question: What is (are) branchio-oculo-facial syndrome ?
Answer: Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features.  "Branchio-" refers to the branchial arches, which are structures in the developing embryo that give rise to tissues in the face and neck. In people with branchio-oculo-facial syndrome, the first and second branchial arches do not develop properly, leading to abnormal patches of skin, typically on the neck or near the ears. These patches can be unusually thin, hairy, or red and densely packed with blood vessels (hemangiomatous). In a small number of individuals, tissue from a gland called the thymus is abnormally located on the skin of the neck (dermal thymus). Problems with branchial arch development underlie many of the other features of branchio-oculo-facial syndrome.  "Oculo-" refers to the eyes. Many people with branchio-oculo-facial syndrome have malformations of the eyes that can lead to vision impairment. These abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in structures that make up the eyes (coloboma), or blockage of the tear ducts (nasolacrimal duct stenosis).  Problems with development of the face lead to distinctive facial features in people with branchio-oculo-facial syndrome. Many affected individuals have a split in the upper lip (cleft lip) or a pointed upper lip that resembles a poorly repaired cleft lip (often called a pseudocleft lip) with or without an opening in the roof of the mouth (cleft palate). Other facial characteristics include widely spaced eyes (hypertelorism), an increased distance between the inner corners of the eyes (telecanthus), outside corners of the eyes that point upward (upslanting palpebral fissures), a broad nose with a flattened tip, and weakness of the muscles in the lower face. The ears are also commonly affected, resulting in malformed or prominent ears. Abnormalities of the inner ear or of the tiny bones in the ears (ossicles) can cause hearing loss in people with this condition.  Branchio-oculo-facial syndrome can affect other structures and tissues as well. Some affected individuals have kidney abnormalities, such as malformed kidneys or multiple kidney cysts. Nail and teeth abnormalities also occur, and some people with this condition have prematurely graying hair.
Source: GHR
Topic: branchio-oculo-facial syndrome
Question: How many people are affected by branchio-oculo-facial syndrome ?
Answer: Branchio-oculo-facial syndrome is a rare condition, although the prevalence is unknown.
Source: GHR
Topic: branchio-oculo-facial syndrome
Question: What are the genetic changes related to branchio-oculo-facial syndrome ?
Answer: Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in several cellular processes, such as cell division and the self-destruction of cells that are no longer needed (apoptosis). This protein is critical during development before birth, particularly of the branchial arches, which form the structures of the face and neck.  Most TFAP2A gene mutations that cause branchio-oculo-facial syndrome change single protein building blocks (amino acids) in the transcription factor AP-2 protein. These changes tend to occur in a region of the protein that allows it to bind to DNA. Without this function, transcription factor AP-2 cannot control the activity of genes during development, which disrupts the development of the eyes, ears, and face and causes the features of branchio-oculo-facial syndrome.
Source: GHR
Topic: branchio-oculo-facial syndrome
Question: Is branchio-oculo-facial syndrome inherited ?
Answer: Branchio-oculo-facial syndrome 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 about half of cases, an affected person inherits the mutation from one affected parent. The remaining cases occur in people whose parents do not have a mutation in the TFAP2A gene. In these situations, the mutation likely occurs as a random event during the formation of reproductive cells (eggs and sperm) in a parent or in early fetal development of the affected individual.
Source: GHR
Topic: branchio-oculo-facial syndrome
Question: What are the treatments for branchio-oculo-facial syndrome ?
Answer: These resources address the diagnosis or management of branchio-oculo-facial syndrome:  - Gene Review: Gene Review: Branchiooculofacial Syndrome  - Genetic Testing Registry: Branchiooculofacial syndrome  - MedlinePlus Encyclopedia: Cleft Lip and Palate   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
Source: GHR
Topic: tumor necrosis factor receptor-associated periodic syndrome
Question: What is (are) tumor necrosis factor receptor-associated periodic syndrome ?
Answer: Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. Some individuals can go many years without having a fever episode. Fever episodes usually occur spontaneously, but sometimes they can be brought on by a variety of triggers, such as minor injury, infection, stress, exercise, or hormonal changes.  During episodes of fever, people with TRAPS can have additional signs and symptoms. These include abdominal and muscle pain and a spreading skin rash, typically found on the limbs. Affected individuals may also experience puffiness or swelling in the skin around the eyes (periorbital edema); joint pain; and inflammation in various areas of the body including the eyes, heart muscle, certain joints, throat, or mucous membranes such as the moist lining of the mouth and digestive tract. Occasionally, people with TRAPS develop amyloidosis, an abnormal buildup of a protein called amyloid in the kidneys that can lead to kidney failure. It is estimated that 15 to 20 percent of people with TRAPS develop amyloidosis, typically in mid-adulthood.  The fever episodes characteristic of TRAPS can begin at any age, from infancy to late adulthood, but most people have their first episode in childhood.
Source: GHR
Topic: tumor necrosis factor receptor-associated periodic syndrome
Question: How many people are affected by tumor necrosis factor receptor-associated periodic syndrome ?
Answer: TRAPS has an estimated prevalence of one per million individuals; it is the second most common inherited recurrent fever syndrome, following a similar condition called familial Mediterranean fever. More than 1,000 people worldwide have been diagnosed with TRAPS.
Source: GHR
Topic: tumor necrosis factor receptor-associated periodic syndrome
Question: What are the genetic changes related to tumor necrosis factor receptor-associated periodic syndrome ?
Answer: TRAPS is caused by mutations in the TNFRSF1A gene. This gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1). This protein is found within the membrane of cells, where it attaches (binds) to another protein called tumor necrosis factor (TNF). This binding sends signals that can trigger the cell either to initiate inflammation or to self-destruct. Signaling within the cell initiates a pathway that turns on a protein called nuclear factor kappa B that triggers inflammation and leads to the production of immune system proteins called cytokines. The self-destruction of the cell (apoptosis) is initiated when the TNFR1 protein, bound to the TNF protein, is brought into the cell and triggers a process known as the caspase cascade.  Most TNFRSF1A gene mutations that cause TRAPS result in a TNFR1 protein that is folded into an incorrect 3-dimensional shape. These misfolded proteins are trapped within the cell and are not able to get to the cell surface to interact with TNF. Inside the cell, these proteins clump together and are thought to trigger alternative pathways that initiate inflammation. The clumps of protein constantly activate these alternative inflammation pathways, leading to excess inflammation in people with TRAPS. Additionally, because only one copy of the TNFRSF1A gene has a mutation, some normal TNFR1 proteins are produced and can bind to the TNF protein, leading to additional inflammation. It is unclear if disruption of the apoptosis pathway plays a role in the signs and symptoms of TRAPS.
Source: GHR
Topic: tumor necrosis factor receptor-associated periodic syndrome
Question: Is tumor necrosis factor receptor-associated periodic syndrome inherited ?
Answer: 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. However, some people who inherit the altered gene never develop features of TRAPS. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with the mutated gene do not.  In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Source: GHR
Topic: tumor necrosis factor receptor-associated periodic syndrome
Question: What are the treatments for tumor necrosis factor receptor-associated periodic syndrome ?
Answer: These resources address the diagnosis or management of TRAPS:  - Genetic Testing Registry: TNF receptor-associated periodic fever syndrome (TRAPS)  - University College London: National Amyloidosis Center (UK)   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
Source: GHR
Topic: deafness and myopia syndrome
Question: What is (are) deafness and myopia syndrome ?
Answer: Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual).  Affected individuals also have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood.
Source: GHR
Topic: deafness and myopia syndrome
Question: How many people are affected by deafness and myopia syndrome ?
Answer: The prevalence of deafness and myopia syndrome is unknown. Only a few affected families have been described in the medical literature.
Source: GHR
Topic: deafness and myopia syndrome
Question: What are the genetic changes related to deafness and myopia syndrome ?
Answer: Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit auditory signals. It also controls (regulates) the growth of the eye after birth. In particular, the SLITRK6 protein influences the length of the eyeball (axial length), which affects whether a person will be nearsighted or farsighted, or will have normal vision. The SLITRK6 protein spans the cell membrane, where it is anchored in the proper position to perform its function.  SLITRK6 gene mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane. As a result, the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome.
Source: GHR
Topic: deafness and myopia syndrome
Question: Is deafness and myopia syndrome inherited ?
Answer: 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.
Source: GHR
Topic: deafness and myopia syndrome
Question: What are the treatments for deafness and myopia syndrome ?
Answer: These resources address the diagnosis or management of deafness and myopia syndrome:  - Baby's First Test: Hearing Loss  - EyeSmart: Eyeglasses for Vision Correction  - Gene Review: Gene Review: Deafness and Myopia Syndrome  - Harvard Medical School Center for Hereditary Deafness  - KidsHealth: Hearing Evaluation in Children  - MedlinePlus Encyclopedia: Cochlear Implant  - MedlinePlus Health Topic: Cochlear Implants  - MedlinePlus Health Topic: Hearing Aids  - MedlinePlus Health Topic: Newborn 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
Source: GHR
Topic: hyperkalemic periodic paralysis
Question: What is (are) hyperkalemic periodic paralysis ?
Answer: Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands.  Most people with hyperkalemic periodic paralysis have increased levels of potassium in their blood (hyperkalemia) during attacks. Hyperkalemia results when the weak or paralyzed muscles release potassium ions into the bloodstream. In other cases, attacks are associated with normal blood potassium levels (normokalemia). Ingesting potassium can trigger attacks in affected individuals, even if blood potassium levels do not go up.
Source: GHR
Topic: hyperkalemic periodic paralysis
Question: How many people are affected by hyperkalemic periodic paralysis ?
Answer: Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people.
Source: GHR
Topic: hyperkalemic periodic paralysis
Question: What are the genetic changes related to hyperkalemic periodic paralysis ?
Answer: Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. One of the changes that helps trigger muscle contractions is the flow of positively charged atoms (ions), including sodium, into muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells.  Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels stay open too long or do not stay closed long enough, allowing more sodium ions to flow into muscle cells. This increase in sodium ions triggers the release of potassium from muscle cells, which causes more sodium channels to open and stimulates the flow of even more sodium ions into these cells. These changes in ion transport reduce the ability of skeletal muscles to contract, leading to episodes of muscle weakness or paralysis.  In 30 to 40 percent of cases, the cause of hyperkalemic periodic paralysis is unknown. Changes in other genes, which have not been identified, likely cause the disorder in these cases.
Source: GHR
Topic: hyperkalemic periodic paralysis
Question: Is hyperkalemic periodic paralysis inherited ?
Answer: 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.
Source: GHR