sarnsrun/medquad huggingface dataset:
Topic: triple X syndrome
Question: How many people are affected by triple X syndrome ?
Answer: This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple X syndrome are born in the United States each day.
Source: GHR
Topic: triple X syndrome
Question: What are the genetic changes related to triple X syndrome ?
Answer: People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY).  Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46. An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women.  Some females with triple X syndrome have an extra X chromosome in only some of their cells. This phenomenon is called 46,XX/47,XXX mosaicism.
Source: GHR
Topic: triple X syndrome
Question: Is triple X syndrome inherited ?
Answer: Most cases of triple X syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells.  46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX).
Source: GHR
Topic: triple X syndrome
Question: What are the treatments for triple X syndrome ?
Answer: These resources address the diagnosis or management of triple X syndrome:  - Association for X and Y Chromosome Variations (AXYS): Trisomy X Syndrome  - Genetic Testing Registry: Trisomy X 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: cerebral cavernous malformation
Question: What is (are) cerebral cavernous malformation ?
Answer: Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).  Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related health problems. Other people with this condition may experience serious signs and symptoms such as headaches, seizures, paralysis, hearing or vision loss, and bleeding in the brain (cerebral hemorrhage). Severe brain hemorrhages can result in death. The location and number of cerebral cavernous malformations determine the severity of this disorder. These malformations can change in size and number over time.  There are two forms of the condition: familial and sporadic. The familial form is passed from parent to child, and affected individuals typically have multiple cerebral cavernous malformations. The sporadic form occurs in people with no family history of the disorder. These individuals typically have only one malformation.
Source: GHR
Topic: cerebral cavernous malformation
Question: How many people are affected by cerebral cavernous malformation ?
Answer: Cerebral cavernous malformations affect about 0.5 percent of the population worldwide.
Source: GHR
Topic: cerebral cavernous malformation
Question: What are the genetic changes related to cerebral cavernous malformation ?
Answer: Mutations in at least three genes, KRIT1 (also known as CCM1), CCM2, and PDCD10 (also known as CCM3), cause familial cerebral cavernous malformations.  The precise functions of these genes are not fully understood. Studies show that the proteins produced from these genes are found in the junctions connecting neighboring blood vessel cells. The proteins interact with each other as part of a complex that strengthens the interactions between cells and limits leakage from the blood vessels. Mutations in any of the three genes impair the function of the protein complex, resulting in weakened cell-to-cell junctions and increased leakage from vessels as seen in cerebral cavernous malformations.  Mutations in these three genes account for 85 to 95 percent of all cases of familial cerebral cavernous malformations. The remaining 5 to 15 percent of cases may be due to mutations in unidentified genes or to other unknown causes. Mutations in the KRIT1, CCM2, and PDCD10 genes are not involved in sporadic cerebral cavernous malformations. The cause of this form of the condition is unknown.
Source: GHR
Topic: cerebral cavernous malformation
Question: Is cerebral cavernous malformation inherited ?
Answer: This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In the familial form, an affected person inherits the mutation from one affected parent.  Most people with cerebral cavernous malformations have the sporadic form of the disorder. These cases occur in people with no history of the disorder in their family.
Source: GHR
Topic: cerebral cavernous malformation
Question: What are the treatments for cerebral cavernous malformation ?
Answer: These resources address the diagnosis or management of cerebral cavernous malformation:  - Angioma Alliance: Imaging and Diagnostics  - Gene Review: Gene Review: Familial Cerebral Cavernous Malformation  - Genetic Testing Registry: Cerebral cavernous malformation  - Genetic Testing Registry: Cerebral cavernous malformations 1  - Genetic Testing Registry: Cerebral cavernous malformations 2  - Genetic Testing Registry: Cerebral cavernous malformations 3  - MedlinePlus Encyclopedia: Cerebral angiography   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: complement component 2 deficiency
Question: What is (are) complement component 2 deficiency ?
Answer: Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement component 2 deficiency have a significantly increased risk of recurrent bacterial infections, specifically of the lungs (pneumonia), the membrane covering the brain and spinal cord (meningitis), and the blood (sepsis), which may be life-threatening. These infections most commonly occur in infancy and childhood and become less frequent in adolescence and adulthood.  Complement component 2 deficiency is also associated with an increased risk of developing autoimmune disorders such as systemic lupus erythematosus (SLE) or vasculitis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. Between 10 and 20 percent of individuals with complement component 2 deficiency develop SLE. Females with complement component 2 deficiency are more likely to have SLE than affected males, but this is also true of SLE in the general population.  The severity of complement component 2 deficiency varies widely. While some affected individuals experience recurrent infections and other immune system difficulties, others do not have any health problems related to the disorder.
Source: GHR
Topic: complement component 2 deficiency
Question: How many people are affected by complement component 2 deficiency ?
Answer: In Western countries, complement component 2 deficiency is estimated to affect 1 in 20,000 individuals; its prevalence in other areas of the world is unknown.
Source: GHR
Topic: complement component 2 deficiency
Question: What are the genetic changes related to complement component 2 deficiency ?
Answer: Complement component 2 deficiency is caused by mutations in the C2 gene. This gene provides instructions for making the complement component 2 protein, which helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders, trigger inflammation, and remove debris from cells and tissues. The complement component 2 protein is involved in the pathway that turns on (activates) the complement system when foreign invaders, such as bacteria, are detected.  The most common C2 gene mutation, which is found in more than 90 percent of people with complement component 2 deficiency, prevents the production of complement component 2 protein. A lack of this protein impairs activation of the complement pathway. As a result, the complement system's ability to fight infections is diminished. It is unclear how complement component 2 deficiency leads to an increase in autoimmune disorders. Researchers speculate that the dysfunctional complement system is unable to distinguish what it should attack, and it sometimes attacks normal tissues, leading to autoimmunity. Alternatively, the dysfunctional complement system may perform partial attacks on invading molecules, which leaves behind foreign fragments that are difficult to distinguish from the body's tissues, so the complement system sometimes attacks the body's own cells. It is likely that other factors, both genetic and environmental, play a role in the variability of the signs and symptoms of complement component 2 deficiency.
Source: GHR
Topic: complement component 2 deficiency
Question: Is complement component 2 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: complement component 2 deficiency
Question: What are the treatments for complement component 2 deficiency ?
Answer: These resources address the diagnosis or management of complement component 2 deficiency:  - Genetic Testing Registry: Complement component 2 deficiency  - MedlinePlus Encyclopedia: Complement  - MedlinePlus Encyclopedia: Immunodeficiency Disorders  - Primary Immune Deficiency Treatment Consortium   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: aromatic l-amino acid decarboxylase deficiency
Question: What is (are) aromatic l-amino acid decarboxylase deficiency ?
Answer: Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.  Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck.  AADC deficiency may affect the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest.  Signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep.
Source: GHR
Topic: aromatic l-amino acid decarboxylase deficiency
Question: How many people are affected by aromatic l-amino acid decarboxylase deficiency ?
Answer: AADC deficiency is a rare disorder. Only about 100 people with this condition have been described in the medical literature worldwide; about 20 percent of these individuals are from Taiwan.
Source: GHR
Topic: aromatic l-amino acid decarboxylase deficiency
Question: What are the genetic changes related to aromatic l-amino acid decarboxylase deficiency ?
Answer: Mutations in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which is important in the nervous system. This enzyme helps produce dopamine and serotonin from other molecules. Dopamine and serotonin are neurotransmitters, which are chemical messengers that transmit signals between nerve cells, both in the brain and spinal cord (central nervous system) and in other parts of the body (peripheral nervous system).  Mutations in the DDC gene result in reduced activity of the AADC enzyme. Without enough of this enzyme, nerve cells produce less dopamine and serotonin. Dopamine and serotonin are necessary for normal nervous system function, and changes in the levels of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency.
Source: GHR
Topic: aromatic l-amino acid decarboxylase deficiency
Question: Is aromatic l-amino acid decarboxylase 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: aromatic l-amino acid decarboxylase deficiency
Question: What are the treatments for aromatic l-amino acid decarboxylase deficiency ?
Answer: These resources address the diagnosis or management of aromatic l-amino acid decarboxylase deficiency:  - Genetic Testing Registry: Deficiency of aromatic-L-amino-acid decarboxylase   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: Stormorken syndrome
Question: What is (are) Stormorken syndrome ?
Answer: Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal bleeding. In addition, affected individuals often have a muscle disorder, called tubular aggregate myopathy, that leads to muscle weakness. Another feature of Stormorken syndrome is permanent constriction of the pupils of the eyes (miosis), which may be caused by abnormalities in the muscles that control the size of the pupils. Other features include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia).
Source: GHR
Topic: Stormorken syndrome
Question: How many people are affected by Stormorken syndrome ?
Answer: Stormorken syndrome is a rare disorder. Approximately a dozen cases have been reported in the medical literature.
Source: GHR
Topic: Stormorken syndrome
Question: What are the genetic changes related to Stormorken syndrome ?
Answer: Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. The flow of calcium ions through CRAC channels triggers signaling within cells that helps control gene activity, cell growth and division, and immune function.  The STIM1 gene mutation involved in Stormorken syndrome leads to production of a STIM1 protein that is constantly turned on (constitutively active), which means it continually stimulates calcium ion entry through CRAC channels regardless of ion levels. Researchers suggest that the abnormal ion flow in platelets causes the cells to die earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. It is unknown how constitutively active STIM1 leads to the other features of the disorder.
Source: GHR
Topic: Stormorken syndrome
Question: Is Stormorken 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. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Source: GHR
Topic: Stormorken syndrome
Question: What are the treatments for Stormorken syndrome ?
Answer: These resources address the diagnosis or management of Stormorken syndrome:  - Genetic Testing Registry: Stormorken 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: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
Question: What is (are) Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?
Answer: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.  Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or gray skin coloring, known as reticulate hyperpigmentation. This darker pigmentation is seen most often on the neck, chest, and abdomen, although it can also occur in and around the eyes and mouth. Reticulate hyperpigmentation appears in infancy or early childhood. It may fade with age or persist throughout life.  NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Some affected individuals also have blistering on their palms and soles. Their fingernails and toenails may be malformed, brittle, and either thicker or thinner than usual. Most affected individuals are missing the patterned ridges on the skin of the hands and feet, called dermatoglyphs, that are the basis for each person's unique fingerprints.  Additional features of NFJS/DPR can include a reduced ability to sweat (hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and underarms. The alopecia is described as noncicatricial because it does not leave scars (cicatrices).
Source: GHR
Topic: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
Question: How many people are affected by Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?
Answer: NFJS/DPR is a rare condition; its prevalence is unknown. Only a few affected families have been reported in the medical literature.
Source: GHR
Topic: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
Question: What are the genetic changes related to Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?
Answer: NFJS/DPR results from mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14. Keratins are tough, fibrous proteins that provide strength and resiliency to the outer layer of the skin (the epidermis). Researchers believe that keratin 14 may also play a role in the formation of sweat glands and the development of dermatoglyphs.  The KRT14 gene mutations that cause NFJS/DPR most likely reduce the amount of functional keratin 14 that is produced in cells. A shortage of this protein makes cells in the epidermis more likely to self-destruct (undergo apoptosis). The resulting loss of these cells alters the normal development and structure of ectodermal tissues, which likely underlies most of the skin and nail problems characteristic of NFJS/DPR. However, it is unclear how a shortage of keratin 14 is related to changes in skin pigmentation.
Source: GHR
Topic: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
Question: Is Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis 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: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
Question: What are the treatments for Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis ?
Answer: These resources address the diagnosis or management of NFJS/DPR:  - Foundation for Ichthyosis and Related Skin Types (FIRST): Palmoplantar Keratodermas  - Genetic Testing Registry: Dermatopathia pigmentosa reticularis  - Genetic Testing Registry: Naegeli-Franceschetti-Jadassohn syndrome  - MedlinePlus Encyclopedia: Ectodermal Dysplasia  - MedlinePlus Encyclopedia: Nail Abnormalities   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