falan42/medcuad_data huggingface dataset:
Topic: megalencephaly-capillary malformation syndrome
Question: What are the genetic changes related to megalencephaly-capillary malformation syndrome ?
Answer: MCAP is caused by mutations in the PIK3CA gene, which provides instructions for making the p110 alpha (p110) protein. This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division (proliferation), movement (migration) of cells, and cell survival. These functions make PI3K important for the development of tissues throughout the body, including the brain and blood vessels.  PIK3CA gene mutations involved in MCAP alter the p110 protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to the overgrowth of the brain, blood vessels, and other organs and tissues characteristic of MCAP.
(Source: GHR)
Topic: megalencephaly-capillary malformation syndrome
Question: Is megalencephaly-capillary malformation syndrome inherited ?
Answer: MCAP is not inherited from a parent and does not run in families. In people with MCAP, a PIK3CA gene mutation arises randomly in one cell during the early stages of development before birth. As cells continue to divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism.
(Source: GHR)
Topic: megalencephaly-capillary malformation syndrome
Question: What are the treatments for megalencephaly-capillary malformation syndrome ?
Answer: These resources address the diagnosis or management of megalencephaly-capillary malformation syndrome:  - Contact a Family  - Gene Review: Gene Review: PIK3CA-Related Segmental Overgrowth  - Genetic Testing Registry: Megalencephaly cutis marmorata telangiectatica congenita  - M-CM Network: How is M-CM Diagnosed?   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: trichohepatoenteric syndrome
Question: What is (are) trichohepatoenteric syndrome ?
Answer: Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. Within the first few weeks of life, affected infants develop watery diarrhea that occurs multiple times per day. Even with nutritional support through intravenous feedings (parenteral nutrition), many of these children experience failure to thrive, which means they do not gain weight or grow at the expected rate. Most children with trichohepatoenteric syndrome are small at birth, and they remain shorter than their peers throughout life.  Abnormal hair is another feature of trichohepatoenteric syndrome. Hair in affected individuals is described as wooly, brittle, patchy, and easily pulled out. Under a microscope, some strands of hair can be seen to vary in diameter, with thicker and thinner spots. This feature is known as trichorrhexis nodosa.  Other signs and symptoms of trichohepatoenteric syndrome can include liver disease; skin abnormalities; and distinctive facial features, including a wide forehead, a broad base of the nose, and widely spaced eyes. Overall, the facial features are described as "coarse." Most affected individuals also experience immune system abnormalities that can make them prone to developing infections. Less commonly, trichohepatoenteric syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been reported in at least half of all children with the condition.  Trichohepatoenteric syndrome is often life-threatening in childhood, particularly in children who develop liver disease or severe infections.
(Source: GHR)
Topic: trichohepatoenteric syndrome
Question: How many people are affected by trichohepatoenteric syndrome ?
Answer: Trichohepatoenteric syndrome is a rare condition with an estimated prevalence of about 1 in 1 million people. At least 44 cases have been reported in the medical literature.
(Source: GHR)
Topic: trichohepatoenteric syndrome
Question: What are the genetic changes related to trichohepatoenteric syndrome ?
Answer: Trichohepatoenteric syndrome can be caused by mutations in the TTC37 or SKIV2L gene. These genes provide instructions for making proteins whose functions have not been confirmed. Researchers speculate that they work together with other proteins within cells to help recognize and break down excess or abnormal messenger RNA (mRNA) molecules. mRNA is a chemical cousin of DNA that serves as the genetic blueprint for protein production. Studies suggest that getting rid of excess and abnormal mRNA is important for cell growth.  Mutations in the TTC37 or SKIV2L gene likely eliminate the function of their respective proteins, which is hypothesized to impair the breakdown of unneeded mRNA. However, it is unknown how these changes could lead to chronic diarrhea and the other features of trichohepatoenteric syndrome.
(Source: GHR)
Topic: trichohepatoenteric syndrome
Question: Is trichohepatoenteric 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: trichohepatoenteric syndrome
Question: What are the treatments for trichohepatoenteric syndrome ?
Answer: These resources address the diagnosis or management of trichohepatoenteric syndrome:  - American Society for Parenteral and Enteral Nutrition: What is Parenteral Nutrition?  - Genetic Testing Registry: Trichohepatoenteric syndrome  - Genetic Testing Registry: Trichohepatoenteric syndrome 2  - MedlinePlus Health Topic: Nutritional Support   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: Peutz-Jeghers syndrome
Question: What is (are) Peutz-Jeghers syndrome ?
Answer: Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.  Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.  People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.
(Source: GHR)
Topic: Peutz-Jeghers syndrome
Question: How many people are affected by Peutz-Jeghers syndrome ?
Answer: The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 individuals.
(Source: GHR)
Topic: Peutz-Jeghers syndrome
Question: What are the genetic changes related to Peutz-Jeghers syndrome ?
Answer: Mutations in the STK11 gene (also known as LKB1) cause most cases of Peutz-Jeghers syndrome. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. The resulting uncontrolled cell growth leads to the formation of noncancerous polyps and cancerous tumors in people with Peutz-Jeghers syndrome.  A small percentage of people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.
(Source: GHR)
Topic: Peutz-Jeghers syndrome
Question: Is Peutz-Jeghers syndrome inherited ?
Answer: Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of all cases, an affected person inherits a mutation in the STK11 gene from one affected parent. The remaining cases occur in people with no history of Peutz-Jeghers syndrome in their family. These cases appear to result from new (de novo) mutations in the STK11 gene.
(Source: GHR)
Topic: Peutz-Jeghers syndrome
Question: What are the treatments for Peutz-Jeghers syndrome ?
Answer: These resources address the diagnosis or management of Peutz-Jeghers syndrome:  - Gene Review: Gene Review: Peutz-Jeghers Syndrome  - Genetic Testing Registry: Peutz-Jeghers syndrome  - MedlinePlus Encyclopedia: Peutz-Jeghers 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: mucolipidosis II alpha/beta
Question: What is (are) mucolipidosis II alpha/beta ?
Answer: Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood.  At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry. Affected individuals grow slowly after birth and usually stop growing during the second year of life. Development is delayed, particularly the development of speech and motor skills such as sitting and standing.  Children with mucolipidosis II alpha/beta typically have several bone abnormalities, many of which are present at birth. Affected individuals may have an abnormally rounded upper back (kyphosis), feet that are abnormally rotated (clubfeet), dislocated hips, unusually shaped long bones, and short hands and fingers. People with this condition also have joint deformities (contractures) that significantly affect mobility. Most children with mucolipidosis II alpha/beta do not develop the ability to walk independently. Affected individuals have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray.  Other features of mucolipidosis II alpha/beta include a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," and overgrowth of the gums (gingival hypertrophy). Vocal cords can stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute to prolonged or recurrent respiratory infections. Affected individuals may also have recurrent ear infections, which can lead to hearing loss.
(Source: GHR)
Topic: mucolipidosis II alpha/beta
Question: How many people are affected by mucolipidosis II alpha/beta ?
Answer: Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.
(Source: GHR)
Topic: mucolipidosis II alpha/beta
Question: What are the genetic changes related to mucolipidosis II alpha/beta ?
Answer: Mutations in the GNPTAB gene cause mucolipidosis II alpha/beta. This gene provides instructions for making part of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often "tagged" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome.  Mutations in the GNPTAB gene that cause mucolipidosis II alpha/beta prevent the production of any functional GlcNAc-1-phosphotransferase. Without this enzyme, digestive enzymes cannot be tagged with M6P and transported to lysosomes. Instead, they end up outside the cell and have increased digestive activity. The lack of digestive enzymes within lysosomes causes large molecules to accumulate there. Conditions that cause molecules to build up inside lysosomes, including mucolipidosis II alpha/beta, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis II alpha/beta are most likely caused by the lack of digestive enzymes within lysosomes and the effects these enzymes have outside the cell.  Mutations in the GNPTAB gene can also cause a similar but milder disorder called mucolipidosis III alpha/beta. Instead of preventing the production of any enzyme, these mutations reduce the activity of GlcNAc-1-phosphotransferase. Mucolipidosis III alpha/beta and mucolipidosis II alpha/beta represent two ends of a spectrum of disease severity.
(Source: GHR)
Topic: mucolipidosis II alpha/beta
Question: Is mucolipidosis II alpha/beta 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: mucolipidosis II alpha/beta
Question: What are the treatments for mucolipidosis II alpha/beta ?
Answer: These resources address the diagnosis or management of mucolipidosis II alpha/beta:  - Gene Review: Gene Review: Mucolipidosis II  - Genetic Testing Registry: I cell disease  - MedlinePlus Encyclopedia: Clubfoot  - MedlinePlus Encyclopedia: Contracture deformity  - MedlinePlus Encyclopedia: Kyphosis   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: hereditary hemorrhagic telangiectasia
Question: What is (are) hereditary hemorrhagic telangiectasia ?
Answer: Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.  In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through the arteries to the smaller vessels (arterioles and capillaries) that supply oxygen to the body's tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillaries into veins, through which it eventually returns to the heart.  In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly into veins rather than into the capillaries. These abnormalities are called arteriovenous malformations. When they occur in vessels near the surface of the skin, where they are visible as red markings, they are known as telangiectases (the singular is telangiectasia).  Without the normal buffer of the capillaries, the blood moves from the arteries at high pressure into the thinner walled, less elastic veins. The extra pressure tends to strain and enlarge these blood vessels, and may result in compression or irritation of adjacent tissues and frequent episodes of severe bleeding (hemorrhage). Nosebleeds are very common in people with hereditary hemorrhagic telangiectasia, and more serious problems may arise from hemorrhages in the brain, liver, lungs, or other organs.  Forms of hereditary hemorrhagic telangiectasia include type 1, type 2, type 3, and juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome. People with type 1 tend to develop symptoms earlier than those with type 2, and are more likely to have blood vessel malformations in the lungs and brain. Type 2 and type 3 may be associated with a higher risk of liver involvement. Women are more likely than men to develop blood vessel malformations in the lungs with type 1, and are also at higher risk of liver involvement with both type 1 and type 2. Individuals with any form of hereditary hemorrhagic telangiectasia, however, can have any of these problems.  Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. Types 1, 2 and 3 do not appear to increase the likelihood of such polyps.
(Source: GHR)
Topic: hereditary hemorrhagic telangiectasia
Question: How many people are affected by hereditary hemorrhagic telangiectasia ?
Answer: The incidence of hereditary hemorrhagic telangiectasia is difficult to determine because the severity of symptoms can vary widely and some symptoms, such as frequent nosebleeds, are common in the general population. In addition, arteriovenous malformations may be associated with other medical conditions. Hereditary hemorrhagic telangiectasia is widely distributed, occurring in many ethnic groups around the world. It is believed to affect between 1 in 5,000 and 1 in 10,000 people.
(Source: GHR)
Topic: hereditary hemorrhagic telangiectasia
Question: What are the genetic changes related to hereditary hemorrhagic telangiectasia ?
Answer: Mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia.  Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the gene ENG. Type 2 is caused by mutations in the gene ACVRL1. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in the gene SMAD4. All these genes provide instructions for making proteins that are found in the lining of the blood vessels. These proteins interact with growth factors that control blood vessel development. The gene involved in hereditary hemorrhagic telangiectasia type 3 is not known, but is believed to be located on chromosome 5.  Mutations in these genes generally prevent the production of the associated protein, or result in the production of a defective protein that cannot fulfill its function. An individual with a mutated gene will therefore have a reduced amount of the functional protein available in the tissue lining the blood vessels. This deficiency is believed to result in the signs and symptoms of hereditary hemorrhagic telangiectasia.
(Source: GHR)
Topic: hereditary hemorrhagic telangiectasia
Question: Is hereditary hemorrhagic telangiectasia 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: hereditary hemorrhagic telangiectasia
Question: What are the treatments for hereditary hemorrhagic telangiectasia ?
Answer: These resources address the diagnosis or management of hereditary hemorrhagic telangiectasia:  - Gene Review: Gene Review: Hereditary Hemorrhagic Telangiectasia  - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 2  - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 3  - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 4  - Genetic Testing Registry: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome  - Genetic Testing Registry: Osler hemorrhagic telangiectasia syndrome  - MedlinePlus Encyclopedia: Osler-Weber-Rendu 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: 47,XYY syndrome
Question: What is (are) 47,XYY syndrome ?
Answer: 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father children.  47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand tremors or other involuntary movements (motor tics), and behavioral and emotional difficulties are also possible. These characteristics vary widely among affected boys and men.  A small percentage of males with 47,XYY syndrome are diagnosed with autistic spectrum disorders, which are developmental conditions that affect communication and social interaction.
(Source: GHR)
Topic: 47,XYY syndrome
Question: How many people are affected by 47,XYY syndrome ?
Answer: This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys with 47,XYY syndrome are born in the United States each day.
(Source: GHR)
Topic: 47,XYY syndrome
Question: What are the genetic changes related to 47,XYY 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).  47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. As a result of the extra Y chromosome, each cell has a total of 47 chromosomes instead of the usual 46. It is unclear why an extra copy of the Y chromosome is associated with tall stature, learning problems, and other features in some boys and men.  Some males with 47,XYY syndrome have an extra Y chromosome in only some of their cells. This phenomenon is called 46,XY/47,XYY mosaicism.
(Source: GHR)
Topic: 47,XYY syndrome
Question: Is 47,XYY syndrome inherited ?
Answer: Most cases of 47,XYY syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome in each of the body's cells.  46,XY/47,XYY 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 one X chromosome and one Y chromosome (46,XY), and other cells have one X chromosome and two Y chromosomes (47,XYY).
(Source: GHR)
Topic: 47,XYY syndrome
Question: What are the treatments for 47,XYY syndrome ?
Answer: These resources address the diagnosis or management of 47,XYY syndrome:  - Association for X and Y Chromosome Variations: Tell Me About 47,XYY  - Genetic Testing Registry: Double Y 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)