randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : information 
 What is (are) ring chromosome 14 syndrome ? 
 Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking.  Additional features of ring chromosome 14 syndrome can include slow growth and short stature, a small head (microcephaly), puffy hands and/or feet caused by a buildup of fluid (lymphedema), and subtle differences in facial features. Some affected individuals have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Abnormalities of the retina, the specialized tissue at the back of the eye that detects light and color, have also been reported in some people with this condition. These changes typically do not affect vision. Major birth defects are rarely seen with ring chromosome 14 syndrome.
This is a medical question of type : frequency 
 How many people are affected by ring chromosome 14 syndrome ? 
 Ring chromosome 14 syndrome appears to be a rare condition, although its prevalence is unknown. More than 50 affected individuals have been reported in the medical literature.
This is a medical question of type : genetic changes 
 What are the genetic changes related to ring chromosome 14 syndrome ? 
 Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14, sometimes written as r(14). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 14 syndrome have one copy of this abnormal chromosome in some or all of their cells.  Researchers believe that several critical genes near the end of the long (q) arm of chromosome 14 are lost when the ring chromosome forms. The loss of these genes is likely responsible for several of the major features of ring chromosome 14 syndrome, including intellectual disability and delayed development. Researchers are still working to determine which missing genes contribute to the signs and symptoms of this disorder.  Epilepsy is a common feature of ring chromosome syndromes, including ring chromosome 14. There may be something about the ring structure itself that causes epilepsy. Seizures may occur because certain genes on the ring chromosome 14 are less active than those on the normal chromosome 14. Alternately, seizures might result from instability of the ring chromosome in some cells.
This is a medical question of type : inheritance 
 Is ring chromosome 14 syndrome inherited ? 
 Ring chromosome 14 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. In some cases, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism.  Most affected individuals have no history of the disorder in their families. However, at least two families have been reported in which a ring chromosome 14 was passed from a mother to her children.
This is a medical question of type : treatment 
 What are the treatments for ring chromosome 14 syndrome ? 
 These resources address the diagnosis or management of ring chromosome 14 syndrome:  - Genetic Testing Registry: Ring chromosome 14  - MedlinePlus Encyclopedia: Chromosome   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
This is a medical question of type : information 
 What is (are) Griscelli syndrome ? 
 Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms.  Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the same disorder.  People with Griscelli syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1.  Unusually light skin and hair coloring are the only features of Griscelli syndrome type 3. People with this form of the disorder do not have neurological abnormalities or immune system problems.
This is a medical question of type : frequency 
 How many people are affected by Griscelli syndrome ? 
 Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Griscelli syndrome ? 
 The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene.  The proteins produced from these genes are found in pigment-producing cells called melanocytes. Within these cells, the proteins work together to transport structures called melanosomes. These structures produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color (pigmentation). Melanosomes are formed near the center of melanocytes, but they must be transported to the outer edge of these cells and then transferred into other types of cells to provide normal pigmentation.  Mutations in any of the three genes, MYO5A, RAB27A, or MLPH, impair the normal transport of melanosomes within melanocytes. As a result, these structures clump near the center of melanocytes, trapping melanin within these cells and preventing normal pigmentation of skin and hair. The clumps of pigment, which can be seen in hair shafts when viewed under a microscope, are a hallmark feature of the condition.  In addition to their roles in melanosome transport, the MYO5A and RAB27A genes have functions elsewhere in the body. Specifically, the protein produced from the MYO5A gene transports materials within nerve cells (neurons) that appear to be critical for cell function. The protein produced from the RAB27A gene is found in immune system cells, where it is involved in the release of certain compounds that kill foreign invaders (such as viruses and bacteria). Mutations in these genes impair these critical cell activities, leading to the neurological problems and immune system abnormalities found in Griscelli syndrome types 1 and 2, respectively.
This is a medical question of type : inheritance 
 Is Griscelli syndrome inherited ? 
 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This is a medical question of type : treatment 
 What are the treatments for Griscelli syndrome ? 
 These resources address the diagnosis or management of Griscelli syndrome:  - Genetic Testing Registry: Griscelli syndrome type 1  - Genetic Testing Registry: Griscelli syndrome type 2  - Genetic Testing Registry: Griscelli syndrome type 3   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
This is a medical question of type : information 
 What is (are) Hermansky-Pudlak syndrome ? 
 Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.  People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding.  Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems.  Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure.  There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9.
This is a medical question of type : frequency 
 How many people are affected by Hermansky-Pudlak syndrome ? 
 Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected. Type 3 is common in people from central Puerto Rico. Groups of affected individuals have been identified in many other regions, including India, Japan, the United Kingdom, and Western Europe.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Hermansky-Pudlak syndrome ? 
 At least nine genes are associated with Hermansky-Pudlak syndrome. These genes provide instructions for making proteins that are used to make four distinct protein complexes. These protein complexes play a role in the formation and movement (trafficking) of a group of cell structures called lysosome-related organelles (LROs). LROs are very similar to compartments within the cell called lysosomes, which digest and recycle materials. However, LROs perform specialized functions and are found only in certain cell types. LROs have been identified in pigment-producing cells (melanocytes), blood-clotting cells (platelets), and lung cells.  Mutations in the genes associated with Hermansky-Pudlak syndrome prevent the formation of LROs or impair the functioning of these cell structures. In general, mutations in genes that involve the same protein complex cause similar signs and symptoms. People with this syndrome have oculocutaneous albinism because the LROs within melanocytes cannot produce and distribute the substance that gives skin, hair, and eyes their color (melanin). Bleeding problems are caused by the absence of LROs within platelets, which affects the ability of platelets to stick together and form a blood clot. Mutations in some of the genes that cause Hermansky-Pudlak syndrome affect the normal functioning of LROs in lung cells, leading to pulmonary fibrosis.  Mutations in the HPS1 gene cause approximately 75 percent of the Hermansky-Pudlak syndrome cases from Puerto Rico. About 45 percent of affected individuals from other populations have mutations in the HPS1 gene. Mutations in the HPS3 gene are found in about 25 percent of affected people from Puerto Rico and in approximately 20 percent of affected individuals from other areas. The other genes associated with Hermansky-Pudlak syndrome each account for a small percentage of cases of this condition.  In some people with Hermansky-Pudlak syndrome, the genetic cause of the disorder is unknown.
This is a medical question of type : inheritance 
 Is Hermansky-Pudlak syndrome inherited ? 
 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This is a medical question of type : treatment 
 What are the treatments for Hermansky-Pudlak syndrome ? 
 These resources address the diagnosis or management of Hermansky-Pudlak syndrome:  - Gene Review: Gene Review: Hermansky-Pudlak Syndrome  - Genetic Testing Registry: Hermansky-Pudlak syndrome  - Genetic Testing Registry: Hermansky-Pudlak syndrome 1  - MedlinePlus Encyclopedia: Albinism  - MedlinePlus Encyclopedia: Colitis   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
This is a medical question of type : information 
 What is (are) asphyxiating thoracic dystrophy ? 
 Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.  Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.
This is a medical question of type : frequency 
 How many people are affected by asphyxiating thoracic dystrophy ? 
 Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to 130,000 people.
This is a medical question of type : genetic changes 
 What are the genetic changes related to asphyxiating thoracic dystrophy ? 
 Mutations in at least 11 genes have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. Mutations in other genes each cause a small percentage of cases. In total, about 70 percent of people with asphyxiating thoracic dystrophy have mutations in one of the known genes.  The genes associated with asphyxiating thoracic dystrophy provide instructions for making proteins that are found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. The proteins are involved in a process called intraflagellar transport (IFT), by which materials are carried to and from the tips of cilia. IFT is essential for the assembly and maintenance of these cell structures. Cilia play central roles in many different chemical signaling pathways, including a series of reactions called the Sonic Hedgehog pathway. These pathways are important for the growth and division (proliferation) and maturation (differentiation) of cells. In particular, Sonic Hedgehog appears to be essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone.  Mutations in the genes associated with asphyxiating thoracic dystrophy impair IFT, which disrupts the normal assembly or function of cilia. As a result, cilia are missing or abnormal in many different kinds of cells. Researchers speculate that these changes alter signaling through certain signaling pathways, including the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy. Abnormal cilia in other tissues, such as the kidneys, liver, and retinas, cause the other signs and symptoms of the condition.  Asphyxiating thoracic dystrophy is part of a group of disorders known as skeletal ciliopathies or ciliary chondrodysplasias, all of which are caused by problems with cilia and involve bone abnormalities. Several of these disorders, including asphyxiating thoracic dystrophy, are sometimes classified more specifically as short rib-polydactyly syndromes (SRPSs) based on their signs and symptoms. Some researchers believe that SRPSs would be more accurately described as a spectrum with a range of features rather than as separate disorders.
This is a medical question of type : inheritance 
 Is asphyxiating thoracic dystrophy 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.
This is a medical question of type : treatment 
 What are the treatments for asphyxiating thoracic dystrophy ? 
 These resources address the diagnosis or management of asphyxiating thoracic dystrophy:  - Genetic Testing Registry: Asphyxiating thoracic dystrophy 2  - Genetic Testing Registry: Asphyxiating thoracic dystrophy 4  - Genetic Testing Registry: Asphyxiating thoracic dystrophy 5  - Genetic Testing Registry: Jeune thoracic dystrophy  - Genetic Testing Registry: Short-rib thoracic dysplasia 1 with or without polydactyly  - Jeune's Center at Nationwide Children's Hospital  - MedlinePlus Encyclopedia: Chronic Renal Failure  - MedlinePlus Encyclopedia: Polydactyly   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
This is a medical question of type : information 
 What is (are) Joubert syndrome ? 
 Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.  The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). This sign results from the abnormal development of regions near the back of the brain called the cerebellar vermis and the brainstem. The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI.  Most infants with Joubert syndrome have weak muscle tone (hypotonia) in infancy, which evolves into difficulty coordinating movements (ataxia) in early childhood. Other characteristic features of the condition include episodes of unusually fast or slow breathing in infancy and abnormal eye movements. Most affected individuals have delayed development and intellectual disability, which range from mild to severe. Distinctive facial features are also characteristic of Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes, low-set ears, and a triangle-shaped mouth.  Joubert syndrome can include a broad range of additional signs and symptoms. The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss), kidney disease, liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), and hormone (endocrine) problems. When the characteristic features of Joubert syndrome occur in combination with one or more of these additional signs and symptoms, researchers refer to the condition as "Joubert syndrome and related disorders (JSRD)."
This is a medical question of type : frequency 
 How many people are affected by Joubert syndrome ? 
 Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. However, this estimate may be too low because Joubert syndrome has such a large range of possible features and is likely underdiagnosed.
This is a medical question of type : genetic changes 
 What are the genetic changes related to Joubert syndrome ? 
 Joubert syndrome and related disorders can be caused by mutations in at least 10 genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. Cilia are important for the structure and function of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell).  Mutations in the genes associated with Joubert syndrome and related disorders lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during development. Although researchers believe that defective cilia are responsible for most of the features of these disorders, it remains unclear how they lead to specific developmental abnormalities.  Mutations in the 10 genes known to be associated with Joubert syndrome and related disorders only account for about half of all cases of these conditions. In the remaining cases, the genetic cause is unknown.