Druvith/medqa1 huggingface dataset:
Question:  What are the genetic changes related to molybdenum cofactor deficiency ?
Answer: Molybdenum cofactor deficiency is caused by mutations in the MOCS1, MOCS2, or GPHN gene. There are three forms of the disorder, named types A, B, and C (or complementation groups A, B, and C). The forms have the same signs and symptoms but are distinguished by their genetic cause: MOCS1 gene mutations cause type A, MOCS2 gene mutations cause type B, and GPHN gene mutations cause type C. The proteins produced from each of these genes are involved in the formation (biosynthesis) of a molecule called molybdenum cofactor. Molybdenum cofactor, which contains the element molybdenum, is essential to the function of several enzymes. These enzymes help break down (metabolize) different substances in the body, some of which are toxic if not metabolized.  Mutations in the MOCS1, MOCS2, or GPHN gene reduce or eliminate the function of the associated protein, which impairs molybdenum cofactor biosynthesis. Without the cofactor, the metabolic enzymes that rely on it cannot function.  The resulting loss of enzyme activity leads to buildup of certain chemicals, including sulfite, S-sulfocysteine, xanthine, and hypoxanthine (which can be identified in urine), and low levels of uric acid in the blood. Sulfite, which is normally broken down by one of the molybdenum cofactor-dependent enzymes, is toxic, especially to the brain. Researchers suggest that damage caused by the abnormally high levels of sulfite (and possibly other chemicals) leads to encephalopathy, seizures, and the other features of molybdenum cofactor deficiency.
Question:  Is molybdenum cofactor deficiency inherited ?
Answer: Molybdenum cofactor deficiency has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition.  At least one individual with molybdenum cofactor deficiency inherited two mutated copies of the MOCS1 gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.
Question:  What are the treatments for molybdenum cofactor deficiency ?
Answer: These resources address the diagnosis or management of molybdenum cofactor deficiency:  - Genetic Testing Registry: Combined molybdoflavoprotein enzyme deficiency  - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group A  - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group B  - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group C   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
Question:  How many people are affected by focal dermal hypoplasia ?
Answer: Focal dermal hypoplasia appears to be a rare condition, although its exact prevalence is unknown.
Question:  What are the genetic changes related to focal dermal hypoplasia ?
Answer: Mutations in the PORCN gene cause focal dermal hypoplasia. This gene provides instructions for making a protein that is responsible for modifying other proteins, called Wnt proteins. Wnt proteins participate in chemical signaling pathways in the body that regulate development of the skin, bones, and other structures before birth.  Mutations in the PORCN gene appear to prevent the production of any functional PORCN protein. Researchers believe Wnt proteins cannot be released from the cell without the PORCN protein. When Wnt proteins are unable to leave the cell, they cannot participate in the chemical signaling pathways that are critical for normal development. The various signs and symptoms of focal dermal hypoplasia are likely due to abnormal Wnt signaling during early development.
Question:  Is focal dermal hypoplasia inherited ?
Answer: Focal dermal hypoplasia is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. The X chromosome that contains the mutated PORCN gene may be turned on (active) or turned off (inactive) due to a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Researchers suspect that the distribution of active and inactive X chromosomes may play a role in determining the severity of focal dermal hypoplasia in females.  In males (who have only one X chromosome), a mutation in the only copy of the PORCN gene in each cell appears to be lethal very early in development. A male can be born with focal dermal hypoplasia if he has a PORCN gene mutation in only some of his cells (known as mosaicism). Affected males typically experience milder symptoms of the disorder than females because more of their cells have a functional copy of the PORCN gene. A characteristic of focal dermal hypoplasia is that mildly affected fathers cannot pass this condition to their sons, but they can pass it to their daughters, who are usually more severely affected than they are. Women with focal dermal hypoplasia cannot pass this condition to their sons (because it is lethal early in development) but can pass it to their daughters.  Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Only about 5 percent of females with this condition inherit a mutation in the PORCN gene from a parent.
Question:  What are the treatments for focal dermal hypoplasia ?
Answer: These resources address the diagnosis or management of focal dermal hypoplasia:  - Gene Review: Gene Review: Focal Dermal Hypoplasia  - Genetic Testing Registry: Focal dermal hypoplasia  - MedlinePlus Encyclopedia: Ectodermal dysplasia  - MedlinePlus Encyclopedia: Omphalocele   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
Question:  What is (are) limb-girdle muscular dystrophy ?
Answer: Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.  The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.  In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.  Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.  Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing.  Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.
Question:  How many people are affected by limb-girdle muscular dystrophy ?
Answer: It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals.
Question:  What are the genetic changes related to limb-girdle muscular dystrophy ?
Answer: The various forms of limb-girdle muscular dystrophy are caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in muscle maintenance and repair.  Some of the proteins produced from these genes assemble with other proteins into larger protein complexes. These complexes maintain the physical integrity of muscle tissue and allow the muscles to contract. Other proteins participate in cell signaling, cell membrane repair, or the removal of potentially toxic wastes from muscle cells.  Limb-girdle muscular dystrophy is classified based on its inheritance pattern and genetic cause. Limb-girdle muscular dystrophy type 1 includes forms of the disorder that have an inheritance pattern called autosomal dominant. Mutations in the LMNA gene cause limb-girdle muscular dystrophy type 1B. Limb-girdle muscular dystrophy type 1C is one of a group of muscle disorders called caveolinopathies caused by mutations in the CAV3 gene.  Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive. Calpainopathy, or limb-girdle muscular dystrophy type 2A, is caused by mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. Dysferlinopathy, also called limb-girdle muscular dystrophy type 2B, is caused by mutations in the DYSF gene.  Sarcoglycanopathies are forms of limb-girdle muscular dystrophy caused by mutations in the SGCA, SGCB, SGCG, and SGCD genes. These sarcoglycanopathies are known as limb-girdle muscular dystrophy types 2D, 2E, 2C, and 2F respectively.  A TTN gene mutation causes limb-girdle muscular dystrophy type 2J, which has been identified only in the Finnish population. Mutations in the ANO5 gene cause limb-girdle muscular dystrophy type 2L. Mutations in several other genes cause forms of limb-girdle muscular dystrophy called dystroglycanopathies, including limb-girdle muscular dystrophy types 2I, 2K, 2M, and 2N.  Other rare forms of limb-girdle muscular dystrophy are caused by mutations in several other genes, some of which have not been identified.
Question:  Is limb-girdle muscular dystrophy inherited ?
Answer: Limb-girdle muscular dystrophy can have different inheritance patterns.  Most forms of this condition 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.  Several rare forms of limb-girdle muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Question:  What are the treatments for limb-girdle muscular dystrophy ?
Answer: These resources address the diagnosis or management of limb-girdle muscular dystrophy:  - Cleveland Clinic  - Gene Review: Gene Review: Limb-Girdle Muscular Dystrophy Overview  - Genetic Testing Registry: Limb-girdle muscular dystrophy  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1A  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1B  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1C  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1E  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1F  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1G  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1H  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2A  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2B  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2D  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2E  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2F  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2G  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2J  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2L  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5  - Johns Hopkins Medicine  - LGMD-Diagnosis.org   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
Question:  What is (are) Pitt-Hopkins syndrome ?
Answer: Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.  People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. Most affected individuals have delayed development of mental and motor skills (psychomotor delay). They are delayed in learning to walk and developing fine motor skills such as picking up small items with their fingers. People with Pitt-Hopkins syndrome typically do not develop speech; some may learn to say a few words. Many affected individuals exhibit features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills.  Breathing problems in individuals with Pitt-Hopkins syndrome are characterized by episodes of rapid breathing (hyperventilation) followed by periods in which breathing slows or stops (apnea). These episodes can cause a lack of oxygen in the blood, leading to a bluish appearance of the skin or lips (cyanosis). In some cases, the lack of oxygen can cause loss of consciousness. Some older individuals with Pitt-Hopkins syndrome develop widened and rounded tips of the fingers and toes (clubbing) because of recurrent episodes of decreased oxygen in the blood. The breathing problems occur only when the person is awake and typically first appear in mid-childhood, but they can begin as early as infancy. Episodes of hyperventilation and apnea can be triggered by emotions such as excitement or anxiety or by extreme tiredness (fatigue).  Epilepsy occurs in most people with Pitt-Hopkins syndrome and usually begins during childhood, although it can be present from birth.  Individuals with Pitt-Hopkins syndrome have distinctive facial features that include thin eyebrows, sunken eyes, a prominent nose with a high nasal bridge, a pronounced double curve of the upper lip (Cupid's bow), a wide mouth with full lips, and widely spaced teeth. The ears are usually thick and cup-shaped.  Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. However, they can also experience anxiety and behavioral problems.  Other features of Pitt-Hopkins syndrome may include constipation and other gastrointestinal problems, an unusually small head (microcephaly), nearsightedness (myopia), eyes that do not look in the same direction (strabismus), short stature, and minor brain abnormalities. Affected individuals may also have small hands and feet, a single crease across the palms of the hands, flat feet (pes planus), or unusually fleshy pads at the tips of the fingers and toes. Males with Pitt-Hopkins syndrome may have undescended testes (cryptorchidism).
Question:  How many people are affected by Pitt-Hopkins syndrome ?
Answer: Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide.
Question:  What are the genetic changes related to Pitt-Hopkins syndrome ?
Answer: Mutations in the TCF4 gene cause Pitt-Hopkins syndrome. This gene provides instructions for making a protein that attaches (binds) to other proteins and then binds to specific regions of DNA to help control the activity of many other genes. On the basis of its DNA binding and gene controlling activities, the TCF4 protein is known as a transcription factor. The TCF4 protein plays a role in the maturation of cells to carry out specific functions (cell differentiation) and the self-destruction of cells (apoptosis).  TCF4 gene mutations disrupt the protein's ability to bind to DNA and control the activity of certain genes. These disruptions, particularly the inability of the TCF4 protein to control the activity of genes involved in nervous system development and function, contribute to the signs and symptoms of Pitt-Hopkins syndrome. Furthermore, additional proteins interact with the TCF4 protein to carry out specific functions. When the TCF4 protein is nonfunctional, these other proteins are also unable to function normally. It is also likely that the loss of the normal proteins that are attached to the nonfunctional TCF4 proteins contribute to the features of this condition. The loss of one protein in particular, the ASCL1 protein, is thought to be associated with breathing problems in people with Pitt-Hopkins syndrome.
Question:  Is Pitt-Hopkins 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.
Question:  What are the treatments for Pitt-Hopkins syndrome ?
Answer: These resources address the diagnosis or management of Pitt-Hopkins syndrome:  - Gene Review: Gene Review: Pitt-Hopkins Syndrome  - Genetic Testing Registry: Pitt-Hopkins 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
Question:  What is (are) CHOPS syndrome ?
Answer: CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.  Children with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth.  Most affected individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Multiple heart abnormalities have sometimes been found in children with CHOPS syndrome. In addition to PDA, affected individuals may have ventricular septal defect, which is a defect in the muscular wall (septum) that separates the right and left sides of the heart's lower chamber.  People with CHOPS syndrome have abnormalities of the throat and airways that cause momentary cessation of breathing while asleep (obstructive sleep apnea). These abnormalities can also cause affected individuals to breathe food or fluids into the lungs accidentally, which can lead to a potentially life-threatening bacterial lung infection (aspiration pneumonia) and chronic lung disease. Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height. They also have skeletal differences including unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae).  Other features that can occur in CHOPS syndrome include a small head size (microcephaly); hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected males, undescended testes (cryptorchidism).
Question:  How many people are affected by CHOPS syndrome ?
Answer: CHOPS syndrome is a rare disorder whose prevalence is unknown. Only a few affected individuals have been described in the medical literature.
Question:  What are the genetic changes related to CHOPS syndrome ?
Answer: CHOPS syndrome is caused by mutations in the AFF4 gene. This gene provides instructions for making part of a protein complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called transcription, which is the first step in the production of proteins from genes. By re-starting the transcription of certain genes after pauses that normally occur during the process, the SEC helps ensure that development proceeds appropriately before birth.  Mutations in the AFF4 gene are thought to result in an AFF4 protein that is not broken down when it is no longer needed, so more AFF4 protein is available than usual. The excess AFF4 protein interferes with normal pauses in transcription. This dysregulation of transcription leads to problems in the development of multiple organs and tissues, resulting in the signs and symptoms of CHOPS syndrome.
Question:  Is CHOPS syndrome inherited ?
Answer: CHOPS 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. All known cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Affected individuals have no history of the disorder in their family.
Question:  What are the treatments for CHOPS syndrome ?
Answer: These resources address the diagnosis or management of CHOPS syndrome:  - Genetic Testing Registry: Chops syndrome  - MedlinePlus Encyclopedia: Congenital Heart Defect -- Corrective Surgery   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