fenil210/Med-Lamma huggingface dataset:
How many people are affected by ethylmalonic encephalopathy ?
About 30 individuals with this condition have been identified worldwide, mostly in Mediterranean and Arab populations. Although ethylmalonic encephalopathy appears to be very rare, researchers suggest that some cases have been misdiagnosed as other neurologic disorders. + GHR + ethylmalonic encephalopathy
What are the genetic changes related to ethylmalonic encephalopathy ?
Mutations in the ETHE1 gene cause ethylmalonic encephalopathy.  The ETHE1 gene provides instructions for making an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. Little is known about the enzyme's exact function, however.  Mutations in the ETHE1 gene lead to the production of a nonfunctional version of the enzyme or prevent any enzyme from being made. A lack of the ETHE1 enzyme impairs the body's ability to make energy in mitochondria. Additionally, a loss of this enzyme allows potentially toxic compounds, including ethylmalonic acid and lactic acid, to build up in the body. Excess amounts of these compounds can be detected in urine. It remains unclear how a loss of the ETHE1 enzyme leads to progressive brain dysfunction and the other features of ethylmalonic encephalopathy. + GHR + ethylmalonic encephalopathy
Is ethylmalonic encephalopathy 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 + ethylmalonic encephalopathy
What are the treatments for ethylmalonic encephalopathy ?
These resources address the diagnosis or management of ethylmalonic encephalopathy:  - Baby's First Test  - Genetic Testing Registry: Ethylmalonic encephalopathy  - MedlinePlus Encyclopedia: Skin discoloration - bluish   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 + ethylmalonic encephalopathy
What is (are) trimethylaminuria ?
Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong odor in their sweat, urine, and breath. The intensity of the odor may vary over time. The odor can interfere with many aspects of daily life, affecting a person's relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition. + GHR + trimethylaminuria
How many people are affected by trimethylaminuria ?
Trimethylaminuria is an uncommon genetic disorder; its incidence is unknown. + GHR + trimethylaminuria
What are the genetic changes related to trimethylaminuria ?
Mutations in the FMO3 gene cause trimethylaminuria. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. This compound is produced by bacteria in the intestine during the digestion of proteins from eggs, liver, legumes (such as soybeans and peas), certain kinds of fish, and other foods. Normally, the FMO3 enzyme converts strong-smelling trimethylamine into another molecule that has no odor. If the enzyme is missing or its activity is reduced because of a mutation in the FMO3 gene, trimethylamine is not processed properly and can build up in the body. As excess trimethylamine is released in a person's sweat, urine, and breath, it causes the odor characteristic of trimethylaminuria. Researchers believe that stress and diet also play a role in triggering symptoms.  Although FMO3 gene mutations account for most cases of trimethylaminuria, the condition can also be caused by other factors. The strong body odor may result from an excess of certain proteins in the diet or from an abnormal increase in bacteria that produce trimethylamine in the digestive system. A few cases of the disorder have been identified in adults with liver or kidney disease. Temporary symptoms of this condition have been reported in a small number of premature infants and in some healthy women at the start of menstruation. + GHR + trimethylaminuria
Is trimethylaminuria inherited ?
Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition. Carriers of an FMO3 mutation, however, may have mild symptoms of trimethylaminuria or experience temporary episodes of strong body odor. + GHR + trimethylaminuria
What are the treatments for trimethylaminuria ?
These resources address the diagnosis or management of trimethylaminuria:  - Gene Review: Gene Review: Primary Trimethylaminuria  - Genetic Testing Registry: Trimethylaminuria  - Monell Chemical Senses Center: TMAU & Body Malodors  - National Human Genome Research Institute: Diagnosis and Treatment of Trimethylaminuria   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 + trimethylaminuria
What is (are) Beare-Stevenson cutis gyrata syndrome ?
Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.  Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability.  A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region.  Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood. + GHR + Beare-Stevenson cutis gyrata syndrome
How many people are affected by Beare-Stevenson cutis gyrata syndrome ?
Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide. + GHR + Beare-Stevenson cutis gyrata syndrome
What are the genetic changes related to Beare-Stevenson cutis gyrata syndrome ?
Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation in the FGFR2 gene alters the protein and promotes prolonged signaling, which is thought to interfere with skeletal and skin development.  Some individuals with Beare-Stevenson cutis gyrata syndrome do not have identified mutations in the FGFR2 gene. In these cases, the cause of the condition is unknown. + GHR + Beare-Stevenson cutis gyrata syndrome
Is Beare-Stevenson cutis gyrata syndrome inherited ?
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. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family. + GHR + Beare-Stevenson cutis gyrata syndrome
What are the treatments for Beare-Stevenson cutis gyrata syndrome ?
These resources address the diagnosis or management of Beare-Stevenson cutis gyrata syndrome:  - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes  - Genetic Testing Registry: Cutis Gyrata syndrome of Beare and Stevenson  - MedlinePlus Encyclopedia: Acanthosis Nigricans  - MedlinePlus Encyclopedia: Craniosynostosis   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 + Beare-Stevenson cutis gyrata syndrome
What is (are) leptin receptor deficiency ?
Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret.  People with leptin receptor deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile). + GHR + leptin receptor deficiency
How many people are affected by leptin receptor deficiency ?
The prevalence of leptin receptor deficiency is unknown. It has been estimated to account for up to 3 percent of individuals with severe obesity and hyperphagia that begins in early childhood. + GHR + leptin receptor deficiency
What are the genetic changes related to leptin receptor deficiency ?
Leptin receptor deficiency is caused by mutations in the LEPR gene. This gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of the brain called the hypothalamus. The hypothalamus controls hunger and thirst as well as other functions such as sleep, moods, and body temperature. It also regulates the release of many hormones that have functions throughout the body.  The leptin receptor is turned on (activated) by a hormone called leptin that attaches (binds) to the receptor, fitting into it like a key into a lock. Normally, the body's fat cells release leptin in proportion to their size. As fat cells become larger, they produce more leptin. This rise in leptin indicates that fat stores are increasing. In the hypothalamus, the binding of leptin to its receptor triggers a series of chemical signals that affect hunger and help produce a feeling of fullness (satiety).  LEPR gene mutations that cause leptin receptor deficiency prevent the receptor from responding to leptin, leading to the excessive hunger and weight gain associated with this disorder. Because hypogonadotropic hypogonadism occurs in leptin receptor deficiency, researchers suggest that leptin receptor signaling is also involved in regulating the body's response to hormones that control sexual development, and that this response is affected by LEPR gene mutations. However, the mechanism of this effect is unknown.  Leptin receptor deficiency is a rare cause of obesity. Researchers are studying the factors involved in more common forms of obesity. + GHR + leptin receptor deficiency
Is leptin receptor deficiency 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 + leptin receptor deficiency
What are the treatments for leptin receptor deficiency ?
These resources address the diagnosis or management of leptin receptor deficiency:  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed?  - Genetic Testing Registry: Leptin receptor deficiency  - Genetics of Obesity Study  - National Heart, Lung, and Blood Institute: How Are Overweight and Obesity Treated?   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 + leptin receptor deficiency
What is (are) autosomal dominant partial epilepsy with auditory features ?
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as specific voices or music, or changes in the volume of sounds. Some people with ADPEAF suddenly become unable to understand language before losing consciousness during a seizure. This inability to understand speech is known as receptive aphasia. Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, a feeling of dizziness or spinning (vertigo), or other symptoms affecting the senses.  Seizures associated with ADPEAF usually begin in adolescence or young adulthood. They may be triggered by specific sounds, such as a ringing telephone or speech, but in most cases the seizures do not have any recognized triggers. In most affected people, seizures are infrequent and effectively controlled with medication.  Most people with ADPEAF have seizures described as simple partial seizures, which do not cause a loss of consciousness. These seizures are thought to begin in a part of the brain called the lateral temporal lobe. In some people, seizure activity may spread from the lateral temporal lobe to affect other regions of the brain. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures. + GHR + autosomal dominant partial epilepsy with auditory features
How many people are affected by autosomal dominant partial epilepsy with auditory features ?
This condition appears to be uncommon, although its prevalence is unknown. + GHR + autosomal dominant partial epilepsy with auditory features
What are the genetic changes related to autosomal dominant partial epilepsy with auditory features ?
Mutations in the LGI1 gene cause ADPEAF. This gene provides instructions for making a protein called Lgi1 or epitempin, which is found primarily in nerve cells (neurons) in the brain. Although researchers have proposed several functions for this protein, its precise role in the brain remains uncertain.  Mutations in the LGI1 gene likely disrupt the function of epitempin. It is unclear how the altered protein leads to seizure activity in the brain.  LGI1 mutations have been identified in about half of all families diagnosed with ADPEAF. In the remaining families, the cause of the condition is unknown. Researchers are searching for other genetic changes that may underlie the condition. + GHR + autosomal dominant partial epilepsy with auditory features
Is autosomal dominant partial epilepsy with auditory features inherited ?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered LGI1 gene in each cell is sufficient to raise the risk of developing epilepsy. About two-thirds of people who inherit a mutation in this gene will develop seizures. In most cases, an affected person has one affected parent and other relatives with the condition. + GHR + autosomal dominant partial epilepsy with auditory features
What are the treatments for autosomal dominant partial epilepsy with auditory features ?
These resources address the diagnosis or management of ADPEAF:  - Gene Review: Gene Review: Autosomal Dominant Partial Epilepsy with Auditory Features  - Genetic Testing Registry: Epilepsy, lateral temporal lobe, autosomal dominant  - MedlinePlus Encyclopedia: Partial (Focal) Seizure  - MedlinePlus Encyclopedia: Seizures   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 + autosomal dominant partial epilepsy with auditory features
What is (are) familial cold autoinflammatory syndrome ?
Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.  People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. Symptoms may be delayed for up to a few hours after the cold exposure. Episodes last an average of 12 hours, but may continue for up to 3 days.  In people with familial cold autoinflammatory syndrome, the most common symptom that occurs during an episode is an itchy or burning rash. The rash usually begins on the face or extremities and spreads to the rest of the body. Occasionally swelling in the extremities may occur.  In addition to the skin rash, episodes are characterized by fever, chills, and joint pain, most often affecting the hands, knees, and ankles. Redness in the whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and nausea may also occur during an episode of this disorder. + GHR + familial cold autoinflammatory syndrome
How many people are affected by familial cold autoinflammatory syndrome ?
Familial cold autoinflammatory syndrome is a very rare condition, believed to have a prevalence of less than 1 per million people. + GHR + familial cold autoinflammatory syndrome
What are the genetic changes related to familial cold autoinflammatory syndrome ?
Mutations in the NLRP3 and NLRP12 genes cause familial cold autoinflammatory syndrome. The NLRP3 gene (also known as CIAS1) provides instructions for making a protein called cryopyrin, and the NLRP12 gene provides instructions for making the protein monarch-1.  Cryopyrin and monarch-1 belong to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues.  Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps start the inflammatory process. Mutations in the NLRP3 gene result in a hyperactive cryopyrin protein that inappropriately triggers an inflammatory response.  Monarch-1 is involved in the inhibition of the inflammatory response. Mutations in the NLRP12 gene appear to reduce the ability of the monarch-1 protein to inhibit inflammation.  Impairment of the body's mechanisms for controlling inflammation results in the episodes of skin rash, fever, and joint pain seen in familial cold autoinflammatory syndrome. It is unclear why episodes are triggered by cold exposure in this disorder. + GHR + familial cold autoinflammatory syndrome
Is familial cold autoinflammatory syndrome inherited ?
This condition is inherited in an autosomal dominant pattern from an affected parent; one copy of the altered gene in each cell is sufficient to cause the disorder. + GHR + familial cold autoinflammatory syndrome
What are the treatments for familial cold autoinflammatory syndrome ?
These resources address the diagnosis or management of familial cold autoinflammatory syndrome:  - Genetic Testing Registry: Familial cold autoinflammatory syndrome 2  - Genetic Testing Registry: Familial cold urticaria   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 + familial cold autoinflammatory syndrome
What is (are) Tangier disease ?
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.  Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (corneal clouding), and type 2 diabetes. + GHR + Tangier disease
How many people are affected by Tangier disease ?
Tangier disease is a rare disorder with approximately 100 cases identified worldwide. More cases are likely undiagnosed. This condition is named after an island off the coast of Virginia where the first affected individuals were identified. + GHR + Tangier disease
What are the genetic changes related to Tangier disease ?
Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver.  Mutations in the ABCA1 gene prevent the release of cholesterol and phospholipids from cells. As a result, these substances accumulate within cells, causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. A buildup of cholesterol can be toxic to cells, leading to impaired cell function or cell death. In addition, the inability to transport cholesterol and phospholipids out of cells results in very low HDL levels, which increases the risk of cardiovascular disease. These combined factors cause the signs and symptoms of Tangier disease. + GHR + Tangier disease
Is Tangier disease 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 + Tangier disease