fenil210/Med-Lamma huggingface dataset:
Is congenital fiber-type disproportion inherited ?
Congenital fiber-type disproportion can have multiple inheritance patterns.  When this condition is caused by mutations in the ACTA1 gene, it usually occurs in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.  Most other cases of congenital fiber-type disproportion, including those caused by mutations in the RYR1 gene, have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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.  When this condition is caused by mutations in the TPM3 gene, it can occur in either an autosomal dominant or autosomal recessive pattern.  In rare cases, this condition can be inherited in an X-linked pattern, although the gene or genes associated with X-linked congenital fiber-type disproportion have not been identified. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  It is estimated that 40 percent of individuals with congenital fiber-type disproportion have an affected relative. + GHR + congenital fiber-type disproportion
What are the treatments for congenital fiber-type disproportion ?
These resources address the diagnosis or management of congenital fiber-type disproportion:  - Gene Review: Gene Review: Congenital Fiber-Type Disproportion  - Genetic Testing Registry: Congenital myopathy with fiber type disproportion  - MedlinePlus Encyclopedia: Contracture Deformity  - MedlinePlus Encyclopedia: Hypotonia   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 + GHR + congenital fiber-type disproportion
What is (are) polymicrogyria ?
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.  Polymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected.  Researchers have identified multiple forms of polymicrogyria. The mildest form is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition.  Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication.  Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. + GHR + polymicrogyria
How many people are affected by polymicrogyria ?
The prevalence of isolated polymicrogyria is unknown. Researchers believe that it may be relatively common overall, although the individual forms of the disorder (such as bilateral generalized polymicrogyria) are probably rare. + GHR + polymicrogyria
What are the genetic changes related to polymicrogyria ?
In most people with polymicrogyria, the cause of the condition is unknown. However, researchers have identified several environmental and genetic factors that can be responsible for the disorder. Environmental causes of polymicrogyria include certain infections during pregnancy and a lack of oxygen to the fetus (intrauterine ischemia).  Researchers are investigating the genetic causes of polymicrogyria. The condition can result from deletions or rearrangements of genetic material from several different chromosomes. Additionally, mutations in one gene, ADGRG1, have been found to cause a severe form of the condition called bilateral frontoparietal polymicrogyria (BFPP). The ADGRG1 gene appears to be critical for the normal development of the outer layer of the brain. Researchers believe that many other genes are probably involved in the different forms of polymicrogyria. + GHR + polymicrogyria
Is polymicrogyria inherited ?
Isolated polymicrogyria can have different inheritance patterns. Several forms of the condition, including bilateral frontoparietal polymicrogyria (which is associated with mutations in the ADGRG1 gene), have an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, 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.  Polymicrogyria can also have an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Other forms of polymicrogyria appear to have an X-linked pattern of inheritance. Genes associated with X-linked conditions are located on the X chromosome, which is one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  Some people with polymicrogyria have relatives with the disorder, while other affected individuals have no family history of the condition. When an individual is the only affected person in his or her family, it can be difficult to determine the cause and possible inheritance pattern of the disorder. + GHR + polymicrogyria
What are the treatments for polymicrogyria ?
These resources address the diagnosis or management of polymicrogyria:  - Gene Review: Gene Review: Polymicrogyria Overview  - Genetic Testing Registry: Congenital bilateral perisylvian syndrome  - Genetic Testing Registry: Polymicrogyria, asymmetric  - Genetic Testing Registry: Polymicrogyria, bilateral frontoparietal  - Genetic Testing Registry: Polymicrogyria, bilateral occipital   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 + GHR + polymicrogyria
What is (are) Cant syndrome ?
Cant syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.  People with Cant syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as "coarse." These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds), and a wide mouth with full lips. As affected individuals get older, the face lengthens, the chin becomes more prominent, and the eyes become deep-set.  Many infants with Cant syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or 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. Other heart problems have also been found in people with Cant syndrome, including an abnormal buildup of fluid around the heart (pericardial effusion) and high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).  Additional features of this condition include distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat under the skin (subcutaneous fat) beginning in childhood, deep horizontal creases in the palms of the hands and soles of the feet, and an increased susceptibility to respiratory infections. Other signs and symptoms that have been reported include abnormal swelling in the body's tissues (lymphedema), side-to-side curvature of the spine (scoliosis), and reduced bone density (osteopenia). Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking. Most have mildly delayed speech, and some affected children have mild intellectual disability or learning problems. + GHR + Cant syndrome
How many people are affected by Cant syndrome ?
Cant syndrome is a rare condition. About three dozen affected individuals have been reported in the medical literature. + GHR + Cant syndrome
What are the genetic changes related to Cant syndrome ?
Cant syndrome results from mutations in the ABCC9 gene. This gene provides instructions for making one part (subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ABCC9 gene alter the structure of the potassium channel, which causes the channel to open when it should be closed. It is unknown how this problem with potassium channel function leads to excess hair growth, heart defects, and the other features of Cant syndrome. + GHR + Cant syndrome
Is Cant syndrome inherited ?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to cause the disorder.  Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the mutation from one affected parent. + GHR + Cant syndrome
What are the treatments for Cant syndrome ?
These resources address the diagnosis or management of Cant syndrome:  - Gene Review: Gene Review: Cant syndrome  - Genetic Testing Registry: Hypertrichotic osteochondrodysplasia   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 + GHR + Cant syndrome
What is (are) microphthalmia ?
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.  People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.  People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.  Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated. + GHR + microphthalmia
How many people are affected by microphthalmia ?
Microphthalmia occurs in approximately 1 in 10,000 individuals. + GHR + microphthalmia
What are the genetic changes related to microphthalmia ?
Microphthalmia may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with isolated microphthalmia have been identified only in very small numbers of affected individuals.  Microphthalmia may also be caused by environmental factors that affect early development, such as a shortage of certain vitamins during pregnancy, radiation, infections such as rubella, or exposure to substances that cause birth defects (teratogens). + GHR + microphthalmia
Is microphthalmia inherited ?
Isolated microphthalmia is sometimes 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. In some cases, parents of affected individuals have less severe eye abnormalities.  When microphthalmia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal recessive or other patterns.  Often microphthalmia is not inherited, and there is only one affected individual in a family. + GHR + microphthalmia
What are the treatments for microphthalmia ?
These resources address the diagnosis or management of microphthalmia:  - Gene Review: Gene Review: Microphthalmia/Anophthalmia/Coloboma Spectrum  - Genetic Testing Registry: Cataract, congenital, with microphthalmia  - Genetic Testing Registry: Cataract, microphthalmia and nystagmus  - Genetic Testing Registry: Microphthalmia, isolated 1  - Genetic Testing Registry: Microphthalmia, isolated 2  - Genetic Testing Registry: Microphthalmia, isolated 3  - Genetic Testing Registry: Microphthalmia, isolated 4  - Genetic Testing Registry: Microphthalmia, isolated 5  - Genetic Testing Registry: Microphthalmia, isolated 6  - Genetic Testing Registry: Microphthalmia, isolated 7  - Genetic Testing Registry: Microphthalmia, isolated 8  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 3  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 4  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 5  - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 6  - Genetic Testing Registry: Microphthalmia, isolated, with corectopia  - Genetic Testing Registry: Microphthalmos   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 + GHR + microphthalmia
What is (are) chorea-acanthocytosis ?
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.  In addition to chorea, another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures.  Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties in individuals with this condition, and can lead to an inability to speak.  Behavioral changes are a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself.  The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis. + GHR + chorea-acanthocytosis
How many people are affected by chorea-acanthocytosis ?
It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis. + GHR + chorea-acanthocytosis
What are the genetic changes related to chorea-acanthocytosis ?
Mutations in the VPS13A gene cause chorea-acanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. Most VPS13A gene mutations lead to the production of an abnormally small, nonfunctional version of chorein. The VPS13A gene is active (expressed) throughout the body; it is unclear why mutations in this gene affect only the brain and red blood cells. + GHR + chorea-acanthocytosis
Is chorea-acanthocytosis 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. + GHR + chorea-acanthocytosis
What are the treatments for chorea-acanthocytosis ?
These resources address the diagnosis or management of chorea-acanthocytosis:  - Gene Review: Gene Review: Chorea-Acanthocytosis  - Genetic Testing Registry: Choreoacanthocytosis   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 + GHR + chorea-acanthocytosis
What is (are) Rett syndrome ?
Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.  Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form. + GHR + Rett syndrome
How many people are affected by Rett syndrome ?
This condition affects an estimated 1 in 8,500 females. + GHR + Rett syndrome
What are the genetic changes related to Rett syndrome ?
Classic Rett syndrome and some variant forms of the condition are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain function. Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections (synapses) between nerve cells (neurons). It may also be necessary for the normal function of other types of brain cells.  The MeCP2 protein is thought to help regulate the activity of genes in the brain. This protein may also control the production of different versions of certain proteins in brain cells. Mutations in the MECP2 gene alter the MeCP2 protein or result in the production of less protein, which appears to disrupt the normal function of neurons and other cells in the brain. Specifically, studies suggest that changes in the MeCP2 protein may reduce the activity of certain neurons and impair their ability to communicate with one another. It is unclear how these changes lead to the specific features of Rett syndrome.  Several conditions with signs and symptoms overlapping those of Rett syndrome have been found to result from mutations in other genes. These conditions, including FOXG1 syndrome, were previously thought to be variant forms of Rett syndrome. However, doctors and researchers have identified some important differences between the conditions, so they are now usually considered to be separate disorders. + GHR + Rett syndrome
Is Rett syndrome inherited ?
In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene.  A few families with more than one affected family member have been described. These cases helped researchers determine that classic Rett syndrome and variants caused by MECP2 gene mutations have an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.  Males with mutations in the MECP2 gene often die in infancy. However, a small number of males with a genetic change involving MECP2 have developed signs and symptoms similar to those of Rett syndrome, including intellectual disability, seizures, and movement problems. In males, this condition is described as MECP2-related severe neonatal encephalopathy. + GHR + Rett syndrome