Druvith/transformed_medDataset huggingface dataset:
What are the treatments for prothrombin thrombophilia ? 
 These resources address the diagnosis or management of prothrombin thrombophilia:  - Gene Review: Gene Review: Prothrombin-Related Thrombophilia  - Genetic Testing Registry: Thrombophilia  - MedlinePlus Encyclopedia: Deep venous thrombosis  - MedlinePlus Encyclopedia: Pulmonary embolus   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) catecholaminergic polymorphic ventricular tachycardia ? 
 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.  If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.
How many people are affected by catecholaminergic polymorphic ventricular tachycardia ? 
 The prevalence of CPVT is estimated to be about 1 in 10,000 people. However, the true prevalence of this condition is unknown.
What are the genetic changes related to catecholaminergic polymorphic ventricular tachycardia ? 
 CPVT can result from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown.  The RYR2 and CASQ2 genes provide instructions for making proteins that help maintain a regular heartbeat. For the heart to beat normally, heart muscle cells called myocytes must tense (contract) and relax in a coordinated way. Both the RYR2 and CASQ2 proteins are involved in handling calcium within myocytes, which is critical for the regular contraction of these cells.  Mutations in either the RYR2 or CASQ2 gene disrupt the handling of calcium within myocytes. During exercise or emotional stress, impaired calcium regulation in the heart can lead to ventricular tachycardia in people with CPVT.
Is catecholaminergic polymorphic ventricular tachycardia inherited ? 
 When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits an RYR2 gene mutation from one affected parent. The remaining cases result from new mutations in the RYR2 gene and occur in people with no history of the disorder in their family.  When CPVT is caused by mutations in the CASQ2 gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that 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 catecholaminergic polymorphic ventricular tachycardia ? 
 These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia:  - Cleveland Clinic: Management of Arrhythmias  - Gene Review: Gene Review: Catecholaminergic Polymorphic Ventricular Tachycardia  - Genetic Testing Registry: Catecholaminergic polymorphic ventricular tachycardia  - Genetic Testing Registry: Ventricular tachycardia, catecholaminergic polymorphic, 2  - MedlinePlus Encyclopedia: Fainting  - MedlinePlus Encyclopedia: Ventricular Tachycardia   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) Schinzel-Giedion syndrome ? 
 Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood.  Children with Schinzel-Giedion syndrome can have a variety of distinctive features. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia). Affected individuals can have other distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, ear malformations, an inability to secrete tears (alacrima), and excessive hairiness (hypertrichosis). Hypertrichosis often disappears in infancy.  Children with Schinzel-Giedion syndrome have severe developmental delay. Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment.  Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. Heart defects include problems with the heart valves, which control blood flow in the heart; the chambers of the heart that pump blood to the body (ventricles); or the dividing wall between the sides of the heart (the septum). Most children with Schinzel-Giedion syndrome have accumulation of urine in the kidneys (hydronephrosis), which can occur in one or both kidneys. Affected individuals can have genital abnormalities such as underdevelopment (hypoplasia) of the genitals. Affected boys may have the opening of the urethra on the underside of the penis (hypospadias).  Bone abnormalities are common in people with Schinzel-Giedion syndrome. The bones at the base of the skull are often abnormally hard or thick (sclerotic), or the joint between the bones at the base of the skull (occipital synchondrosis) can be abnormally wide. In addition, affected individuals may have broad ribs, abnormal collarbones (clavicles), or shortened bones at the ends of the fingers (hypoplastic distal phalanges).  Children with this condition who survive past infancy have a higher than normal risk of developing certain types of tumors called neuroepithelial tumors.
How many people are affected by Schinzel-Giedion syndrome ? 
 Schinzel-Giedion syndrome is very rare, although the exact prevalence is unknown.
What are the genetic changes related to Schinzel-Giedion syndrome ? 
 Schinzel-Giedion syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is known to attach (bind) to another protein called SET. However, the function of the SETBP1 protein and the effect of its binding to the SET protein are unknown.  The SETBP1 gene mutations that have been identified in Schinzel-Giedion syndrome cluster in one region of the gene known as exon 4. However, the effects of the mutations on the function of the gene or the protein are unknown. Researchers are working to understand how mutations in the SETBP1 gene cause the signs and symptoms of Schinzel-Giedion syndrome.
Is Schinzel-Giedion syndrome inherited ? 
 Schinzel-Giedion syndrome results from new mutations in the SETBP1 gene and occurs in people with no history of the disorder in their family. One copy of the altered gene in each cell is sufficient to cause the disorder.
What are the treatments for Schinzel-Giedion syndrome ? 
 These resources address the diagnosis or management of Schinzel-Giedion syndrome:  - Genetic Testing Registry: Schinzel-Giedion syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
What is (are) PRICKLE1-related progressive myoclonus epilepsy with ataxia ? 
 PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10.  Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria).  Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping.  PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.
How many people are affected by PRICKLE1-related progressive myoclonus epilepsy with ataxia ? 
 The prevalence of PRICKLE1-related progressive myoclonus epilepsy with ataxia is unknown. The condition has been reported in three large families from Jordan and northern Israel and in at least two unrelated individuals.
What are the genetic changes related to PRICKLE1-related progressive myoclonus epilepsy with ataxia ? 
 PRICKLE1-related progressive myoclonus epilepsy with ataxia is caused by mutations in the PRICKLE1 gene. This gene provides instructions for making a protein called prickle homolog 1, whose function is unknown. Studies suggest that it interacts with other proteins that are critical for brain development and function.  Mutations in the PRICKLE1 gene alter the structure of prickle homolog 1 and disrupt its ability to interact with other proteins. However, it is unclear how these changes lead to movement problems, seizures, and the other features of PRICKLE1-related progressive myoclonus epilepsy with ataxia.
Is PRICKLE1-related progressive myoclonus epilepsy with ataxia inherited ? 
 Some cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are 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.  Other cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are considered autosomal dominant because one copy of the altered gene in each cell is sufficient to cause the disorder. These 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 PRICKLE1-related progressive myoclonus epilepsy with ataxia ? 
 These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia:  - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia  - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia   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) autosomal dominant vitreoretinochoroidopathy ? 
 Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.  The signs and symptoms of ADVIRC vary, even among members of the same family. Many affected individuals have microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. The area behind the cornea can also be abnormally small, which is described as a shallow anterior chamber. Individuals with ADVIRC can develop increased pressure in the eyes (glaucoma) or clouding of the lens of the eye (cataract). In addition, some people have breakdown (degeneration) of the vitreous or the choroid.  A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. This feature can help physicians diagnose the disorder. Affected individuals may also have white spots on the retina.
How many people are affected by autosomal dominant vitreoretinochoroidopathy ? 
 ADVIRC is considered a rare disease. Its prevalence is unknown.
What are the genetic changes related to autosomal dominant vitreoretinochoroidopathy ? 
 ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina and is involved in growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and color. In the retinal pigment epithelium, bestrophin-1 functions as a channel that transports charged chlorine atoms (chloride ions) across the cell membrane.  Mutations in the BEST1 gene alter how the gene's instructions are used to make bestrophin-1, which leads to production of versions of the protein that are missing certain segments or have extra segments. It is not clear how these versions of bestrophin affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities are related to defects in the retinal pigment epithelium or the photoreceptors.
Is autosomal dominant vitreoretinochoroidopathy 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. In most cases, an affected person has one parent with the condition.
What are the treatments for autosomal dominant vitreoretinochoroidopathy ? 
 These resources address the diagnosis or management of autosomal dominant vitreoretinochoroidopathy:  - American Foundation for the Blind: Living with Vision Loss  - Genetic Testing Registry: Vitreoretinochoroidopathy dominant   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) pyruvate carboxylase deficiency ? 
 Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.  Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. Type A, which has been identified mostly in people from North America, has moderately severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). Children with pyruvate carboxylase deficiency type A typically survive only into early childhood.  Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth.  A milder form of pyruvate carboxylase deficiency, sometimes called type C, has also been described. This type is characterized by slightly increased levels of lactic acid in the blood and minimal signs and symptoms affecting the nervous system.
How many people are affected by pyruvate carboxylase deficiency ? 
 Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. This disorder appears to be much more common in some Algonkian Indian tribes in eastern Canada.
What are the genetic changes related to pyruvate carboxylase deficiency ? 
 Mutations in the PC gene cause pyruvate carboxylase deficiency.  The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation of glucose, a simple sugar that is the body's main energy source. Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters.  Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body's ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.
Is pyruvate carboxylase deficiency 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 pyruvate carboxylase deficiency ? 
 These resources address the diagnosis or management of pyruvate carboxylase deficiency:  - Gene Review: Gene Review: Pyruvate Carboxylase Deficiency  - Genetic Testing Registry: Pyruvate carboxylase deficiency   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) spondyloepiphyseal dysplasia congenita ? 
 Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth.  People with spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. Adult height ranges from 3 feet to just over 4 feet. Abnormal curvature of the spine (kyphoscoliosis and lordosis) becomes more severe during childhood. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly); an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a foot deformity called a clubfoot; and a broad, barrel-shaped chest. Abnormal development of the chest can cause problems with breathing. Arthritis and decreased joint mobility often develop early in life.  People with spondyloepiphyseal dysplasia congenita have mild changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth (a cleft palate). Severe nearsightedness (high myopia) is common, as are other eye problems that can impair vision. About one quarter of people with this condition have hearing loss.
How many people are affected by spondyloepiphyseal dysplasia congenita ? 
 This condition is rare; the exact incidence is unknown. More than 175 cases have been reported in the scientific literature.
What are the genetic changes related to spondyloepiphyseal dysplasia congenita ? 
 Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). The COL2A1 gene is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.
Is spondyloepiphyseal dysplasia congenita 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.
What are the treatments for spondyloepiphyseal dysplasia congenita ? 
 These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita:  - Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita  - MedlinePlus Encyclopedia: Clubfoot  - MedlinePlus Encyclopedia: Lordosis  - MedlinePlus Encyclopedia: Retinal Detachment  - MedlinePlus Encyclopedia: Scoliosis   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) palmoplantar keratoderma with deafness ? 
 Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.  The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.
How many people are affected by palmoplantar keratoderma with deafness ? 
 Palmoplantar keratoderma with deafness is a rare disorder; its prevalence is unknown. At least 10 affected families have been identified.