fenil210/Med-Lamma huggingface dataset:
What is (are) Romano-Ward syndrome ?
Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to fainting (syncope) or cardiac arrest and sudden death. + GHR + Romano-Ward syndrome
How many people are affected by Romano-Ward syndrome ?
Romano-Ward syndrome is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. The disorder may actually be more common than this estimate, however, because some people never experience any symptoms associated with arrhythmia and therefore may not have been diagnosed. + GHR + Romano-Ward syndrome
What are the genetic changes related to Romano-Ward syndrome ?
Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle, ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in any of these genes alter the structure or function of these channels, which changes the flow of ions between cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome.  Unlike most genes related to Romano-Ward syndrome, the ANK2 gene does not provide instructions for making an ion channel. The ANK2 protein, ankyrin-2, ensures that certain other proteins (particularly ion channels) are inserted into the cell membrane appropriately. A mutation in the ANK2 gene likely alters the flow of ions between cells in the heart, which disrupts the heart's normal rhythm. ANK2 mutations can cause a variety of heart problems, including the irregular heartbeat often found in Romano-Ward syndrome. It is unclear whether mutations in the ANK2 gene cause Romano-Ward syndrome or lead to another heart condition with some of the same signs and symptoms. + GHR + Romano-Ward syndrome
Is Romano-Ward syndrome inherited ?
This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in one of the genes described above. These cases occur in people with no history of Romano-Ward syndrome in their family. + GHR + Romano-Ward syndrome
What are the treatments for Romano-Ward syndrome ?
These resources address the diagnosis or management of Romano-Ward syndrome:  - Gene Review: Gene Review: Long QT Syndrome  - Genetic Testing Registry: Long QT syndrome 1  - Genetic Testing Registry: Romano-Ward syndrome  - MedlinePlus Encyclopedia: Arrhythmias   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 + Romano-Ward syndrome
What is (are) vitamin D-dependent rickets ?
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1-hydroxylase deficiency, and type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR).  The signs and symptoms of this condition begin within months of birth, and most are the same for VDDR1 and VDDR2. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop bowed legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.  In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. Both VDDR1 and VDDR2 are characterized by low levels of the minerals calcium (hypocalcemia) and phosphate (hypophosphatemia), which are essential for the normal formation of bones and teeth. Affected individuals also have high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. The two forms of vitamin D-dependent rickets can be distinguished by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1 have abnormally low levels of calcitriol and individuals with VDDR2 have abnormally high levels.  Hair loss (alopecia) can occur in VDDR2, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well. + GHR + vitamin D-dependent rickets
How many people are affected by vitamin D-dependent rickets ?
Rickets affects an estimated 1 in 200,000 children. The condition is most often caused by a lack of vitamin D in the diet or insufficient sun exposure rather than genetic mutations; genetic forms of rickets, including VDDR1 and VDDR2, are much less common. The prevalence of VDDR1 and VDDR2 is unknown. VDDR1 is more common in the French Canadian population than in other populations. + GHR + vitamin D-dependent rickets
What are the genetic changes related to vitamin D-dependent rickets ?
The two types of vitamin D-dependent rickets have different genetic causes: CYP27B1 gene mutations cause VDDR1, and VDR gene mutations cause VDDR2. Both genes are involved in the body's response to vitamin D, an important vitamin that can be can be acquired from foods in the diet or made by the body with the help of sunlight. Vitamin D helps maintain the proper balance of several minerals in the body, including calcium and phosphate. One of vitamin D's major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream.  The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1-hydroxylase). This enzyme carries out the final reaction to convert vitamin D to its active form, calcitriol. Once converted, calcitriol attaches (binds) to a protein called vitamin D receptor (VDR), which is produced from the VDR gene. The resulting calcitriol-VDR complex then binds to particular regions of DNA and regulates the activity of vitamin D-responsive genes. By turning these genes on or off, VDR helps control the absorption of calcium and phosphate and other processes that regulate calcium levels in the body. VDR is also involved in hair growth through a process that does not require calcitriol binding.  Mutations in either of these genes prevent the body from responding to vitamin D. CYP27B1 gene mutations reduce or eliminate 1-hydroxylase activity, which means vitamin D is not converted to its active form. The absence of calcitriol means vitamin D-responsive genes are not turned on (activated). VDR gene mutations alter the vitamin D receptor so that it cannot regulate gene activity, regardless of the presence of calcitriol in the body; often the altered receptor cannot interact with calcitriol or with DNA.  Without activation of vitamin D-responsive genes, absorption of calcium and phosphate falls, leading to hypocalcemia and hypophosphatemia. The lack of calcium and phosphate slows the deposition of these minerals in developing bones (bone mineralization), which leads to soft, weak bones and other features of vitamin D-dependent rickets. Low levels of calcium stimulate production of PTH, resulting in secondary hyperparathyroidism; hypocalcemia can also cause muscle weakness and seizures in individuals with vitamin D-dependent rickets. Certain abnormalities in the VDR protein also impair hair growth, causing alopecia in some people with VDDR2. + GHR + vitamin D-dependent rickets
Is vitamin D-dependent rickets 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 + vitamin D-dependent rickets
What are the treatments for vitamin D-dependent rickets ?
These resources address the diagnosis or management of vitamin D-dependent rickets:  - Genetic Testing Registry: Vitamin D-dependent rickets, type 1  - Genetic Testing Registry: Vitamin D-dependent rickets, type 2  - Genetic Testing Registry: Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor   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 + vitamin D-dependent rickets
What is (are) megalencephaly-capillary malformation syndrome ?
Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).  In individuals with MCAP, megalencephaly leads to an unusually large head size (macrocephaly), which is typically evident at birth. After birth, the brain and head continue to grow at a fast rate for the first few years of life; then, the growth slows to a normal rate, although the head remains larger than average. Additional brain abnormalities are common in people with MCAP; these can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain's structure, such as those known as Chiari malformation and polymicrogyria. Abnormal brain development leads to intellectual disability in most affected individuals and can also cause seizures or weak muscle tone (hypotonia). In particular, polymicrogyria is associated with speech delays and difficulty chewing and swallowing.  The capillary malformations characteristic of MCAP are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations usually look like pink or red spots on the skin. In most affected individuals, capillary malformations occur on the face, particularly the nose, the upper lip, and the area between the nose and upper lip (the philtrum). In other people with MCAP, the malformations appear as patches spread over the body or as a reddish net-like pattern on the skin (cutis marmorata).  In some people with MCAP, excessive growth affects not only the brain but other individual parts of the body, which is known as segmental overgrowth. This can lead to one arm or leg that is bigger or longer than the other or a few oversized fingers or toes. Some affected individuals have fusion of the skin between two or more fingers or toes (cutaneous syndactyly).  Additional features of MCAP can include flexible joints and skin that stretches easily. Some affected individuals are said to have doughy skin because the tissue under the skin is unusually thick and soft.  The gene involved in MCAP is also associated with several types of cancer. Although a small number of individuals with MCAP have developed tumors (in particular, a childhood form of kidney cancer known as Wilms tumor and noncancerous tumors in the nervous system known as meningiomas), people with MCAP do not appear to have a greater risk of developing cancer than the general population. + GHR + megalencephaly-capillary malformation syndrome
How many people are affected by megalencephaly-capillary malformation syndrome ?
The prevalence of MCAP is unknown. At least 150 affected individuals have been reported in the medical literature. Because the condition is often thought to be misdiagnosed or underdiagnosed, it may be more common than reported. + GHR + megalencephaly-capillary malformation syndrome
What are the genetic changes related to megalencephaly-capillary malformation syndrome ?
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. + GHR + megalencephaly-capillary malformation syndrome
Is megalencephaly-capillary malformation syndrome inherited ?
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. + GHR + megalencephaly-capillary malformation syndrome
What are the treatments for megalencephaly-capillary malformation syndrome ?
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 + GHR + megalencephaly-capillary malformation syndrome
What is (are) trichohepatoenteric syndrome ?
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. + GHR + trichohepatoenteric syndrome
How many people are affected by trichohepatoenteric syndrome ?
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. + GHR + trichohepatoenteric syndrome
What are the genetic changes related to trichohepatoenteric syndrome ?
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. + GHR + trichohepatoenteric syndrome
Is trichohepatoenteric syndrome 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 + trichohepatoenteric syndrome
What are the treatments for trichohepatoenteric syndrome ?
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 + GHR + trichohepatoenteric syndrome
What is (are) Peutz-Jeghers syndrome ?
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. + GHR + Peutz-Jeghers syndrome
How many people are affected by Peutz-Jeghers syndrome ?
The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 individuals. + GHR + Peutz-Jeghers syndrome
What are the genetic changes related to Peutz-Jeghers syndrome ?
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. + GHR + Peutz-Jeghers syndrome
Is Peutz-Jeghers syndrome inherited ?
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. + GHR + Peutz-Jeghers syndrome
What are the treatments for Peutz-Jeghers syndrome ?
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 + GHR + Peutz-Jeghers syndrome
What is (are) mucolipidosis II alpha/beta ?
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. + GHR + mucolipidosis II alpha/beta
How many people are affected by mucolipidosis II alpha/beta ?
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. + GHR + mucolipidosis II alpha/beta