sarnsrun/medquad huggingface dataset:
Topic: homocystinuria
Question: What are the treatments for homocystinuria ?
Answer: These resources address the diagnosis or management of homocystinuria:  - Baby's First Test  - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism  - Gene Review: Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency  - Genetic Testing Registry: Homocysteinemia due to MTHFR deficiency  - Genetic Testing Registry: Homocystinuria due to CBS deficiency  - Genetic Testing Registry: Homocystinuria, cblD type, variant 1  - Genetic Testing Registry: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type  - Genetic Testing Registry: METHYLCOBALAMIN DEFICIENCY, cblG TYPE  - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD  - Genetic Testing Registry: Methylmalonic aciduria, cblD type, variant 2  - MedlinePlus Encyclopedia: Homocystinuria  - New England Consortium of Metabolic Programs   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: Baraitser-Winter syndrome
Question: What is (are) Baraitser-Winter syndrome ?
Answer: Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.  An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed chin.  Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal migration, a process by which nerve cells (neurons) move to their proper positions in the developing brain. The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which is an area of the brain that has an abnormally smooth surface with fewer folds and grooves. Less commonly, affected individuals have lissencephaly, which is similar to pachygyria but involves the entire brain surface. These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures.  Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) thumb, and abnormalities of the kidneys and urinary system. Some affected individuals have limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time. Rarely, people with Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).
Source: GHR
Topic: Baraitser-Winter syndrome
Question: How many people are affected by Baraitser-Winter syndrome ?
Answer: Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature.
Source: GHR
Topic: Baraitser-Winter syndrome
Question: What are the genetic changes related to Baraitser-Winter syndrome ?
Answer: Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the actin cytoskeleton, which makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.  Mutations in the ACTB or ACTG1 gene alter the function of -actin or -actin. The malfunctioning actin causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because these two actin proteins are present in cells throughout the body and are involved in many cell activities, problems with their function likely impact many aspects of development, including neuronal migration. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.
Source: GHR
Topic: Baraitser-Winter syndrome
Question: Is Baraitser-Winter syndrome inherited ?
Answer: This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family.
Source: GHR
Topic: Baraitser-Winter syndrome
Question: What are the treatments for Baraitser-Winter syndrome ?
Answer: These resources address the diagnosis or management of Baraitser-Winter syndrome:  - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome  - Genetic Testing Registry: Baraitser-Winter Syndrome 2   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: cri-du-chat syndrome
Question: What is (are) cri-du-chat syndrome ?
Answer: Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.
Source: GHR
Topic: cri-du-chat syndrome
Question: How many people are affected by cri-du-chat syndrome ?
Answer: Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds.
Source: GHR
Topic: cri-du-chat syndrome
Question: What are the genetic changes related to cri-du-chat syndrome ?
Answer: Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.  The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome.
Source: GHR
Topic: cri-du-chat syndrome
Question: Is cri-du-chat syndrome inherited ?
Answer: Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.  About 10 percent of people with cri-du-chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in the intellectual disability and health problems characteristic of this disorder.
Source: GHR
Topic: cri-du-chat syndrome
Question: What are the treatments for cri-du-chat syndrome ?
Answer: These resources address the diagnosis or management of cri-du-chat syndrome:  - Cri du Chat Syndrome Support Group (UK): Diagnosis  - Cri du Chat Syndrome Support Group (UK): Therapies  - Genetic Testing Registry: 5p partial monosomy syndrome  - MedlinePlus Encyclopedia: Cri du Chat 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
Source: GHR
Topic: restless legs syndrome
Question: What is (are) restless legs syndrome ?
Answer: Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and are worse at night. Movement, such as kicking, stretching, rubbing, or pacing, make the discomfort go away, at least temporarily. The unpleasant feelings and the resulting need to move the legs often make it difficult for an affected person to fall asleep or stay asleep.  The signs and symptoms of restless legs syndrome range from mild to severe; people with mild cases may experience symptoms a few times a month, while those with more severe cases may have symptoms every night. In severe cases, the uncomfortable feelings can affect the arms or other parts of the body in addition to the legs.  Many people with restless legs syndrome also experience uncontrollable, repetitive leg movements that occur while they are sleeping or while relaxed or drowsy. When these movements occur during sleep, they are called periodic limb movements of sleep (PLMS); when they occur while a person is awake, they are called periodic limb movements of wakefulness (PLMW). It is unclear whether PLMS and PLMW are features of restless legs syndrome itself or represent similar, but separate, conditions.  Restless legs syndrome and PLMS can affect the quality and amount of sleep. As a result of these conditions, affected individuals may have difficulty concentrating during the day, and some develop mood swings, depression, or other health problems.  Researchers have described early-onset and late-onset forms of restless legs syndrome. The early-onset form begins before age 45, and sometimes as early as childhood. The signs and symptoms of this form usually worsen slowly with time. The late-onset form begins after age 45, and its signs and symptoms tend to worsen more rapidly.
Source: GHR
Topic: restless legs syndrome
Question: How many people are affected by restless legs syndrome ?
Answer: Restless legs syndrome is one of the most common sleep and movement disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent of children in the United States. For unknown reasons, the disorder affects women more often than men. The prevalence of restless legs syndrome increases with age.
Source: GHR
Topic: restless legs syndrome
Question: What are the genetic changes related to restless legs syndrome ?
Answer: Restless legs syndrome likely results from a combination of genetic and environmental factors, many of which are unknown.  Studies suggest that restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. Iron is involved in several critical activities in brain cells, including the production of a chemical messenger (neurotransmitter) called dopamine. Among its many functions, dopamine triggers signals within the nervous system that help the brain control physical movement. Researchers believe that malfunction of the dopamine signaling system may underlie the abnormal movements in people with restless legs syndrome. However, it is unclear how iron deficiency is related to abnormal dopamine signaling, or how these changes in the brain lead to the particular signs and symptoms of the condition.  Variations in several genes have been studied as risk factors for restless legs syndrome. Most of these genes are thought to be involved in the development of nerve cells (neurons) before birth. It is unclear whether any of the genes play roles in brain iron levels or in dopamine signaling. Variations in known genes appear to account for only a small percentage of the risk of developing restless legs syndrome. Changes in other genes, which have not been identified, probably also contribute to this complex disorder. Researchers suspect that the early-onset form of restless legs syndrome is more likely than the late-onset form to have a genetic basis.  Nongenetic factors are also thought to play a role in restless legs syndrome. For example, several other disorders increase the risk of developing the condition. These include a life-threatening failure of kidney function called end-stage renal disease, diabetes mellitus, multiple sclerosis, rheumatoid arthritis, and Parkinson disease. People with low iron levels associated with a shortage of red blood cells (anemia) and women who are pregnant are also more likely to develop restless legs syndrome. In these cases, the condition usually improves or goes away when iron levels increase or after the woman gives birth.  Restless legs syndrome can be triggered by medications, including certain drugs used to treat nausea, depression and other mental health disorders, colds and allergies, heart problems, and high blood pressure. Use of caffeine, nicotine, or alcohol can also trigger restless legs syndrome or make the signs and symptoms worse. In these cases, the condition usually improves or goes away once a person stops using these medications or substances.
Source: GHR
Topic: restless legs syndrome
Question: Is restless legs syndrome inherited ?
Answer: The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families have multiple affected family members. Studies suggest that the early-onset form of the disorder is more likely to run in families than the late-onset form.  In some affected families, restless legs syndrome appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder. However, the genetic changes associated with restless legs syndrome in these families have not been identified.
Source: GHR
Topic: restless legs syndrome
Question: What are the treatments for restless legs syndrome ?
Answer: These resources address the diagnosis or management of restless legs syndrome:  - Agency for Healthcare Research and Quality: Options for Treating Restless Legs Syndrome  - Genetic Testing Registry: Restless legs syndrome, susceptibility to, 8  - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Diagnosed?  - National Heart, Lung, and Blood Institute: How is Restless Legs Syndrome Treated?  - Restless Leg Syndrome Foundation: Diagnosis  - Restless Leg Syndrome Foundation: Treatment Options   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: ophthalmo-acromelic syndrome
Question: What is (are) ophthalmo-acromelic syndrome ?
Answer: Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).  The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.
Source: GHR
Topic: ophthalmo-acromelic syndrome
Question: How many people are affected by ophthalmo-acromelic syndrome ?
Answer: The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature.
Source: GHR
Topic: ophthalmo-acromelic syndrome
Question: What are the genetic changes related to ophthalmo-acromelic syndrome ?
Answer: Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. The SMOC-1 protein attaches (binds) to many different proteins and is thought to regulate molecules called growth factors that stimulate the growth and development of tissues throughout the body. These growth factors play important roles in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The SMOC-1 protein also likely promotes the maturation (differentiation) of cells that build bones, called osteoblasts.  SMOC1 gene mutations often result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It is unclear how SMOC1 gene mutations lead to the other features of this condition.  Some people with ophthalmo-acromelic syndrome do not have an identified mutation in the SMOC1 gene. The cause of the condition in these individuals is unknown.
Source: GHR
Topic: ophthalmo-acromelic syndrome
Question: Is ophthalmo-acromelic syndrome inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR
Topic: ophthalmo-acromelic syndrome
Question: What are the treatments for ophthalmo-acromelic syndrome ?
Answer: These resources address the diagnosis or management of ophthalmo-acromelic syndrome:  - Genetic Testing Registry: Anophthalmos with limb anomalies   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Source: GHR
Topic: Maffucci syndrome
Question: What is (are) Maffucci syndrome ?
Answer: Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.  The signs and symptoms of Maffucci syndrome may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles.  Maffucci syndrome is distinguished from a similar disorder that involves enchondromas (Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body.  Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer.  People with Maffucci syndrome usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.
Source: GHR
Topic: Maffucci syndrome
Question: How many people are affected by Maffucci syndrome ?
Answer: Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide.
Source: GHR
Topic: Maffucci syndrome
Question: What are the genetic changes related to Maffucci syndrome ?
Answer: In most people with Maffucci syndrome, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas and hemangiomas in people with Maffucci syndrome, the relationship between the mutations and the signs and symptoms of the disorder is not well understood.  Mutations in other genes may also account for some cases of Maffucci syndrome.
Source: GHR
Topic: Maffucci syndrome
Question: Is Maffucci syndrome inherited ?
Answer: Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.
Source: GHR
Topic: Maffucci syndrome
Question: What are the treatments for Maffucci syndrome ?
Answer: These resources address the diagnosis or management of Maffucci syndrome:  - Genetic Testing Registry: Maffucci 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
Source: GHR