Druvith/transformed_medDataset huggingface dataset:
Is Marfan syndrome inherited ? 
 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.
What are the treatments for Marfan syndrome ? 
 These resources address the diagnosis or management of Marfan syndrome:  - Gene Review: Gene Review: Marfan Syndrome  - Genetic Testing Registry: Marfan syndrome  - MarfanDX  - MedlinePlus Encyclopedia: Aortic Dissection  - MedlinePlus Encyclopedia: Marfan Syndrome  - MedlinePlus Encyclopedia: Thoracic Aortic Aneurysm  - National Marfan Foundation: Diagnosis   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) idiopathic pulmonary fibrosis ? 
 Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70.  The most common signs and symptoms of idiopathic pulmonary fibrosis are shortness of breath and a persistent dry, hacking cough. Many affected individuals also experience a loss of appetite and gradual weight loss. Some people with idiopathic pulmonary fibrosis develop widened and rounded tips of the fingers and toes (clubbing) resulting from a shortage of oxygen. These features are relatively nonspecific; not everyone with these health problems has idiopathic pulmonary fibrosis. Other respiratory diseases, some of which are less serious, can cause similar signs and symptoms.  In people with idiopathic pulmonary fibrosis, scarring of the lungs increases over time until the lungs can no longer provide enough oxygen to the body's organs and tissues. Some people with idiopathic pulmonary fibrosis develop other serious lung conditions, including lung cancer, blood clots in the lungs (pulmonary emboli), pneumonia, or high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Most affected individuals survive 3 to 5 years after their diagnosis. However, the course of the disease is highly variable; some affected people become seriously ill within a few months, while others may live with the disease for a decade or longer.  In most cases, idiopathic pulmonary fibrosis occurs in only one person in a family. These cases are described as sporadic. However, a small percentage of people with this disease have at least one other affected family member. When idiopathic pulmonary fibrosis occurs in multiple members of the same family, it is known as familial pulmonary fibrosis.
How many people are affected by idiopathic pulmonary fibrosis ? 
 Idiopathic pulmonary fibrosis has an estimated prevalence of 13 to 20 per 100,000 people worldwide. About 100,000 people are affected in the United States, and 30,000 to 40,000 new cases are diagnosed each year.  Familial pulmonary fibrosis is less common than the sporadic form of the disease. Only a small percentage of cases of idiopathic pulmonary fibrosis appear to run in families.
What are the genetic changes related to idiopathic pulmonary fibrosis ? 
 The cause of idiopathic pulmonary fibrosis is unknown, although the disease probably results from a combination of genetic and environmental factors. It is likely that genetic changes increase a person's risk of developing idiopathic pulmonary fibrosis, and then exposure to certain environmental factors triggers the disease.  Changes in several genes have been suggested as risk factors for idiopathic pulmonary fibrosis. Most of these genetic changes account for only a small proportion of cases. However, mutations in genes known as TERC and TERT have been found in about 15 percent of all cases of familial pulmonary fibrosis and a smaller percentage of cases of sporadic idiopathic pulmonary fibrosis. The TERC and TERT genes provide instructions for making components of an enzyme called telomerase, which maintains structures at the ends of chromosomes known as telomeres. It is not well understood how defects in telomerase are associated with the lung damage characteristic of idiopathic pulmonary fibrosis.  Researchers have also examined environmental risk factors that could contribute to idiopathic pulmonary fibrosis. These factors include exposure to wood or metal dust, viral infections, certain medications, and cigarette smoking. Some research suggests that gastroesophageal reflux disease (GERD) may also be a risk factor for idiopathic pulmonary fibrosis; affected individuals may breathe in (aspirate) stomach contents, which over time could damage the lungs.
Is idiopathic pulmonary fibrosis inherited ? 
 Most cases of idiopathic pulmonary fibrosis are sporadic; they occur in people with no history of the disorder in their family.  Familial pulmonary fibrosis appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. However, some people who inherit the altered gene never develop features of familial pulmonary fibrosis. (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.
What are the treatments for idiopathic pulmonary fibrosis ? 
 These resources address the diagnosis or management of idiopathic pulmonary fibrosis:  - Gene Review: Gene Review: Pulmonary Fibrosis, Familial  - Genetic Testing Registry: Idiopathic fibrosing alveolitis, chronic form   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) Blau syndrome ? 
 Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.  A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs.  Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can restrict movement by decreasing the range of motion in many joints.  Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness.  Less commonly, Blau syndrome can affect other parts of the body, including the liver, kidneys, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can cause life-threatening complications.
How many people are affected by Blau syndrome ? 
 Although Blau syndrome appears to be uncommon, its prevalence is unknown.
What are the genetic changes related to Blau syndrome ? 
 Blau syndrome results from mutations in the NOD2 gene. The protein produced from this gene helps defend the body from foreign invaders, such as viruses and bacteria, by playing several essential roles in the immune response, including inflammatory reactions. An inflammatory reaction occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair.  The NOD2 gene mutations that cause Blau syndrome result in a NOD2 protein that is overactive, which can trigger an abnormal inflammatory reaction. However, it is unclear how overactivation of the NOD2 protein causes the specific pattern of inflammation affecting the joints, eyes, and skin that is characteristic of Blau syndrome.
Is Blau syndrome inherited ? 
 Blau 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. Most affected individuals have one parent with the condition.  In some cases, people with the characteristic features of Blau syndrome do not have a family history of the condition. Some researchers believe that these individuals have a non-inherited version of the disorder called early-onset sarcoidosis.
What are the treatments for Blau syndrome ? 
 These resources address the diagnosis or management of Blau syndrome:  - Genetic Testing Registry: Blau syndrome  - Genetic Testing Registry: Sarcoidosis, early-onset  - Merck Manual Consumer Version: Overview of Dermatitis  - Merck Manual Consumer Version: Uveitis   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) McKusick-Kaufman syndrome ? 
 McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.  Most females with McKusick-Kaufman syndrome are born with a genital abnormality called hydrometrocolpos, which is a large accumulation of fluid in the pelvis. Hydrometrocolpos results from a blockage of the vagina before birth, which can occur if part of the vagina fails to develop (vaginal agenesis) or if a membrane blocks the opening of the vagina. This blockage allows fluid to build up in the vagina and uterus, stretching these organs and leading to a fluid-filled mass. Genital abnormalities in males with McKusick-Kaufman syndrome can include placement of the urethral opening on the underside of the penis (hypospadias), a downward-curving penis (chordee), and undescended testes (cryptorchidism).  The signs and symptoms of McKusick-Kaufman syndrome overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. Bardet-Biedl syndrome has several features that are not seen in McKusick-Kaufman syndrome, however. These include vision loss, delayed development, obesity, and kidney (renal) failure. Because some of these features are not apparent at birth, the two conditions can be difficult to tell apart in infancy and early childhood.
How many people are affected by McKusick-Kaufman syndrome ? 
 This condition was first described in the Old Order Amish population, where it affects an estimated 1 in 10,000 people. The incidence of McKusick-Kaufman syndrome in non-Amish populations is unknown.
What are the genetic changes related to McKusick-Kaufman syndrome ? 
 Mutations in the MKKS gene cause McKusick-Kaufman syndrome. This gene provides instructions for making a protein that plays an important role in the formation of the limbs, heart, and reproductive system. The protein's structure suggests that it may act as a chaperonin, which is a type of protein that helps fold other proteins. Proteins must be folded into the correct 3-dimensional shape to perform their usual functions in the body. Although the structure of the MKKS protein is similar to that of a chaperonin, some recent studies have suggested that protein folding may not be this protein's primary function. Researchers speculate that the MKKS protein also may be involved in transporting other proteins within the cell.  The mutations that underlie McKusick-Kaufman syndrome alter the structure of the MKKS protein. Although the altered protein disrupts the development of several parts of the body before birth, it is unclear how MKKS mutations lead to the specific features of this disorder.
Is McKusick-Kaufman 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.
What are the treatments for McKusick-Kaufman syndrome ? 
 These resources address the diagnosis or management of McKusick-Kaufman syndrome:  - Gene Review: Gene Review: McKusick-Kaufman Syndrome  - Genetic Testing Registry: McKusick Kaufman syndrome  - 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
What is (are) Caffey disease ? 
 Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.  The signs and symptoms of Caffey disease are usually apparent by the time an infant is 5 months old. In rare cases, skeletal abnormalities can be detected by ultrasound imaging during the last few weeks of development before birth. Lethal prenatal cortical hyperostosis, a more severe disorder that appears earlier in development and is often fatal before or shortly after birth, is sometimes called lethal prenatal Caffey disease; however, it is generally considered to be a separate disorder.  For unknown reasons, the swelling and pain associated with Caffey disease typically go away within a few months. Through a normal process called bone remodeling, which replaces old bone tissue with new bone, the excess bone is usually reabsorbed by the body and undetectable on x-ray images by the age of 2. However, if two adjacent bones have fused, they may remain that way, possibly resulting in complications. For example, fused rib bones can lead to curvature of the spine (scoliosis) or limit expansion of the chest, resulting in breathing problems.  Most people with Caffey disease have no further problems related to the disorder after early childhood. Occasionally, another episode of hyperostosis occurs years later. In addition, some adults who had Caffey disease in infancy have other abnormalities of the bones and connective tissues, which provide strength and flexibility to structures throughout the body. Affected adults may have loose joints (joint laxity), stretchy (hyperextensible) skin, or be prone to protrusion of organs through gaps in muscles (hernias).
How many people are affected by Caffey disease ? 
 Caffey disease has been estimated to occur in approximately 3 per 1,000 infants worldwide. A few hundred cases have been described in the medical literature. Researchers believe this condition is probably underdiagnosed because it usually goes away by itself in early childhood.
What are the genetic changes related to Caffey disease ? 
 A mutation in the COL1A1 gene causes Caffey disease. The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, and skin. In these tissues, type I collagen is found in the spaces around cells. The collagen molecules are cross-linked in long, thin, fibrils that are very strong and flexible. Type I collagen is the most abundant form of collagen in the human body.  The COL1A1 gene mutation that causes Caffey disease replaces the protein building block (amino acid) arginine with the amino acid cysteine at protein position 836 (written as Arg836Cys or R836C). This mutation results in the production of type I collagen fibrils that are variable in size and shape, but it is unknown how these changes lead to the signs and symptoms of Caffey disease.
Is Caffey disease inherited ? 
 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is usually sufficient to cause the disorder. About 20 percent of people who have the mutation that causes Caffey disease do not experience its signs or symptoms; this phenomenon is called incomplete penetrance.  In some cases, an affected person inherits the mutation that causes Caffey disease from a parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
What are the treatments for Caffey disease ? 
 These resources address the diagnosis or management of Caffey disease:  - Cedars-Sinai: Skeletal Dysplasia  - Gene Review: Gene Review: Caffey Disease  - Genetic Testing Registry: Infantile cortical hyperostosis   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) argininosuccinic aciduria ? 
 Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.  Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen.  Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.
How many people are affected by argininosuccinic aciduria ? 
 Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns.
What are the genetic changes related to argininosuccinic aciduria ? 
 Mutations in the ASL gene cause argininosuccinic aciduria.  Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.  In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia.  Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver.
Is argininosuccinic aciduria 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 argininosuccinic aciduria ? 
 These resources address the diagnosis or management of argininosuccinic aciduria:  - Baby's First Test  - Gene Review: Gene Review: Argininosuccinate Lyase Deficiency  - Gene Review: Gene Review: Urea Cycle Disorders Overview  - Genetic Testing Registry: Argininosuccinate lyase deficiency  - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality   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) familial dysautonomia ? 
 Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.  Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial dysautonomia may hold their breath for prolonged periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. This breath-holding behavior usually stops by age 6. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay.  Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems. Affected individuals also have poor regulation of blood pressure. They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. They can also have episodes of high blood pressure when nervous or excited, or during vomiting incidents. About one-third of children with familial dysautonomia have learning disabilities, such as a short attention span, that require special education classes. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.
How many people are affected by familial dysautonomia ? 
 Familial dysautonomia occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. It affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the general population.