sarnsrun/medquad huggingface dataset:
Topic: nonbullous congenital ichthyosiform erythroderma
Question: What are the genetic changes related to nonbullous congenital ichthyosiform erythroderma ?
Answer: Mutations in at least three genes can cause NBCIE. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The epidermis forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with NBCIE disrupt this protective barrier, making it more difficult for affected infants to control water loss, regulate body temperature, and fight infections.  Mutations in the ALOX12B and ALOXE3 genes are responsible for the majority of cases of NBCIE. Mutations in one other gene associated with this condition are found in only a small percentage of cases. In some people with NBCIE, the cause of the disorder is unknown. Researchers are looking for additional genes that are associated with NBCIE.
Source: GHR
Topic: nonbullous congenital ichthyosiform erythroderma
Question: Is nonbullous congenital ichthyosiform erythroderma 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: nonbullous congenital ichthyosiform erythroderma
Question: What are the treatments for nonbullous congenital ichthyosiform erythroderma ?
Answer: These resources address the diagnosis or management of nonbullous congenital ichthyosiform erythroderma:  - Foundation for Ichthyosis and Related Skin Types (FIRST): Treatments  - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis  - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 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: 2q37 deletion syndrome
Question: What is (are) 2q37 deletion syndrome ?
Answer: 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities.  Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of people with this condition have autism, a developmental condition that affects communication and social interaction.  The characteristic facial features associated with 2q37 deletion syndrome include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features of this condition can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals have malformations of the brain, gastrointestinal system, kidneys, or genitalia.
Source: GHR
Topic: 2q37 deletion syndrome
Question: How many people are affected by 2q37 deletion syndrome ?
Answer: 2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. Approximately 100 cases have been reported worldwide.
Source: GHR
Topic: 2q37 deletion syndrome
Question: What are the genetic changes related to 2q37 deletion syndrome ?
Answer: 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probably related to the loss of multiple genes in this region.
Source: GHR
Topic: 2q37 deletion syndrome
Question: Is 2q37 deletion syndrome inherited ?
Answer: Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs 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.  Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations 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. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.
Source: GHR
Topic: 2q37 deletion syndrome
Question: What are the treatments for 2q37 deletion syndrome ?
Answer: These resources address the diagnosis or management of 2q37 deletion syndrome:  - Gene Review: Gene Review: 2q37 Microdeletion Syndrome  - Genetic Testing Registry: Brachydactyly-Mental Retardation 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: SYNGAP1-related intellectual disability
Question: What is (are) SYNGAP1-related intellectual disability ?
Answer: SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have an autism spectrum disorder.
Source: GHR
Topic: SYNGAP1-related intellectual disability
Question: How many people are affected by SYNGAP1-related intellectual disability ?
Answer: SYNGAP1-related intellectual disability is a relatively common form of cognitive impairment. It is estimated to account for 1 to 2 percent of intellectual disability cases.
Source: GHR
Topic: SYNGAP1-related intellectual disability
Question: What are the genetic changes related to SYNGAP1-related intellectual disability ?
Answer: SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene. The protein produced from this gene, called SynGAP, plays an important role in nerve cells in the brain. It is found at the junctions between nerve cells (synapses) and helps regulate changes in synapses that are critical for learning and memory. Mutations involved in this condition prevent the production of functional SynGAP protein from one copy of the gene, reducing the protein's activity in cells. Studies show that a reduction of SynGAP activity can have multiple effects in nerve cells, including pushing synapses to develop too early. The resulting abnormalities disrupt the synaptic changes in the brain that underlie learning and memory, leading to cognitive impairment and other neurological problems characteristic of SYNGAP1-related intellectual disability.
Source: GHR
Topic: SYNGAP1-related intellectual disability
Question: Is SYNGAP1-related intellectual disability inherited ?
Answer: SYNGAP1-related intellectual disability is classified as an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In at least one case, an affected person inherited the mutation from one affected parent.
Source: GHR
Topic: SYNGAP1-related intellectual disability
Question: What are the treatments for SYNGAP1-related intellectual disability ?
Answer: These resources address the diagnosis or management of SYNGAP1-related intellectual disability:  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities?  - Genetic Testing Registry: Mental retardation, autosomal dominant 5   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: X-linked dystonia-parkinsonism
Question: What is (are) X-linked dystonia-parkinsonism ?
Answer: X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. This condition affects men much more often than women.  Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. Parkinsonism is a group of movement abnormalities including tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling gait that can cause recurrent falls.  Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck, and later spreads to other parts of the body. The continuous muscle cramping and spasms can be disabling. Depending on which muscles are affected, widespread (generalized) dystonia can cause difficulty with speaking, swallowing, coordination, and walking.  The signs and symptoms of X-linked dystonia-parkinsonism vary widely. In the mildest cases, affected individuals have slowly progressive parkinsonism with little or no dystonia. More severe cases involve dystonia that rapidly becomes generalized. These individuals become dependent on others for care within a few years after signs and symptoms appear, and they may die prematurely from breathing difficulties, infections (such as aspiration pneumonia), or other complications.
Source: GHR
Topic: X-linked dystonia-parkinsonism
Question: How many people are affected by X-linked dystonia-parkinsonism ?
Answer: X-linked dystonia-parkinsonism has been reported in more than 500 people of Filipino descent, although it is likely that many more Filipinos are affected. Most people with this condition can trace their mother's ancestry to the island of Panay in the Philippines. The prevalence of the disorder is 5.24 per 100,000 people on the island of Panay.
Source: GHR
Topic: X-linked dystonia-parkinsonism
Question: What are the genetic changes related to X-linked dystonia-parkinsonism ?
Answer: Mutations in and near the TAF1 gene can cause X-linked dystonia-parkinsonism. The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). This protein is active in cells and tissues throughout the body, where it plays an essential role in regulating the activity of most genes.  The TAF1 gene is part of a complex region of DNA known as the TAF1/DYT3 multiple transcript system. This region consists of short stretches of DNA from the TAF1 gene plus some extra segments of genetic material near the gene. These stretches of DNA can be combined in different ways to create various sets of instructions for making proteins. Researchers believe that some of these variations are critical for the normal function of nerve cells (neurons) in the brain.  Several changes in the TAF1/DYT3 multiple transcript system have been identified in people with X-linked dystonia-parkinsonism. Scientists are uncertain how these changes are related to the movement abnormalities characteristic of this disease. However, they suspect that the changes disrupt the regulation of critical genes in neurons. This defect leads to the eventual death of these cells, particularly in areas of the brain called the caudate nucleus and putamen. These regions are critical for normal movement, learning, and memory. It is unclear why the effects of changes in the TAF1/DYT3 multiple transcript system appear to be limited to dystonia and parkinsonism.
Source: GHR
Topic: X-linked dystonia-parkinsonism
Question: Is X-linked dystonia-parkinsonism inherited ?
Answer: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation typically must occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, females with one altered copy of the gene in each cell are called carriers. They can pass on the gene to their children, but they usually do not experience signs and symptoms of the disorder. However, a few females carrying one altered copy of the TAF1 gene have developed movement abnormalities associated with X-linked dystonia-parkinsonism. These movement problems tend to be milder than those seen in affected men, and they are usually not progressive or disabling.
Source: GHR
Topic: X-linked dystonia-parkinsonism
Question: What are the treatments for X-linked dystonia-parkinsonism ?
Answer: These resources address the diagnosis or management of X-linked dystonia-parkinsonism:  - Gene Review: Gene Review: X-Linked Dystonia-Parkinsonism Syndrome  - Genetic Testing Registry: Dystonia 3, torsion, X-linked   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: Frasier syndrome
Question: What is (are) Frasier syndrome ?
Answer: Frasier syndrome is a condition that affects the kidneys and genitalia.  Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have a condition called focal segmental glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the tiny blood vessels in the kidneys that filter waste from blood. In people with Frasier syndrome, this condition often leads to kidney failure by adolescence.  Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The internal reproductive organs (gonads) are typically undeveloped and referred to as streak gonads. These abnormal gonads are nonfunctional and often become cancerous, so they are usually removed surgically early in life.  Affected females usually have normal genitalia and gonads and have only the kidney features of the condition. Because they do not have all the features of the condition, females are usually given the diagnosis of isolated nephrotic syndrome.
Source: GHR
Topic: Frasier syndrome
Question: How many people are affected by Frasier syndrome ?
Answer: Frasier syndrome is thought to be a rare condition; approximately 50 cases have been described in the scientific literature.
Source: GHR
Topic: Frasier syndrome
Question: What are the genetic changes related to Frasier syndrome ?
Answer: Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth.  The WT1 gene mutations that cause Frasier syndrome lead to the production of a protein with an impaired ability to control gene activity and regulate the development of the kidneys and reproductive organs, resulting in the signs and symptoms of Frasier syndrome.  Frasier syndrome has features similar to another condition called Denys-Drash syndrome, which is also caused by mutations in the WT1 gene. Because these two conditions share a genetic cause and have overlapping features, some researchers have suggested that they are part of a spectrum and not two distinct conditions.
Source: GHR
Topic: Frasier syndrome
Question: Is Frasier 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.
Source: GHR
Topic: Frasier syndrome
Question: What are the treatments for Frasier syndrome ?
Answer: These resources address the diagnosis or management of Frasier syndrome:  - Genetic Testing Registry: Frasier syndrome  - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis  - MedlinePlus Encyclopedia: Nephrotic 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: 3-methylcrotonyl-CoA carboxylase deficiency
Question: What is (are) 3-methylcrotonyl-CoA carboxylase deficiency ?
Answer: 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine.  Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Many of these complications can be prevented with early detection and lifelong management with a low-protein diet and appropriate supplements. Some people with gene mutations that cause 3-MCC deficiency never experience any signs or symptoms of the condition.  The characteristic features of 3-MCC deficiency are similar to those of Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
Source: GHR
Topic: 3-methylcrotonyl-CoA carboxylase deficiency
Question: How many people are affected by 3-methylcrotonyl-CoA carboxylase deficiency ?
Answer: This condition is detected in an estimated 1 in 36,000 newborns worldwide.
Source: GHR
Topic: 3-methylcrotonyl-CoA carboxylase deficiency
Question: What are the genetic changes related to 3-methylcrotonyl-CoA carboxylase deficiency ?
Answer: Mutations in the MCCC1 or MCCC2 gene can cause 3-MCC deficiency. These two genes provide instructions for making different parts (subunits) of an enzyme called 3-methylcrotonyl-coenzyme A carboxylase (3-MCC). This enzyme plays a critical role in breaking down proteins obtained from the diet. Specifically, 3-MCC is responsible for the fourth step in processing leucine, an amino acid that is part of many proteins.  Mutations in the MCCC1 or MCCC2 gene reduce or eliminate the activity of 3-MCC, preventing the body from processing leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, which can damage the brain. This damage underlies the signs and symptoms of 3-MCC deficiency.
Source: GHR
Topic: 3-methylcrotonyl-CoA carboxylase deficiency
Question: Is 3-methylcrotonyl-CoA carboxylase deficiency 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: 3-methylcrotonyl-CoA carboxylase deficiency
Question: What are the treatments for 3-methylcrotonyl-CoA carboxylase deficiency ?
Answer: These resources address the diagnosis or management of 3-MCC deficiency:  - Baby's First Test  - Genetic Testing Registry: 3 Methylcrotonyl-CoA carboxylase 1 deficiency  - Genetic Testing Registry: 3-methylcrotonyl CoA carboxylase 2 deficiency  - Genetic Testing Registry: Methylcrotonyl-CoA 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
Source: GHR
Topic: Hashimoto thyroiditis
Question: What is (are) Hashimoto thyroiditis ?
Answer: Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto thyroiditis is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones.  One of the first signs of Hashimoto thyroiditis is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear.  Other signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with this condition may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones.  Hashimoto thyroiditis usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years.
Source: GHR
Topic: Hashimoto thyroiditis
Question: How many people are affected by Hashimoto thyroiditis ?
Answer: Hashimoto thyroiditis affects 1 to 2 percent of people in the United States. It occurs more often in women than in men, which may be related to hormonal factors. The condition is the most common cause of thyroid underactivity (hypothyroidism) in the United States.
Source: GHR