fenil210/Med-Lamma huggingface dataset:
What are the genetic changes related to narcolepsy ?
Narcolepsy probably results from a combination of genetic and environmental factors, some of which have been identified, but many of which remain unknown.  In most cases of narcolepsy with cataplexy, and in some cases without cataplexy, sleep abnormalities result from a loss of particular brain cells (neurons) in a part of the brain called the hypothalamus. These cells normally produce chemicals called hypocretins (also known as orexins), which have many important functions in the body. In particular, hypocretins regulate the daily sleep-wake cycle. It is unclear what triggers the death of hypocretin-producing neurons in people with narcolepsy, although evidence increasingly points to an abnormality of the immune system.  Researchers have identified changes in several genes that influence the risk of developing narcolepsy. The most well-studied of these genes is HLA-DQB1, which provides instructions for making part of a protein that plays an important role in the immune system. The HLA-DQB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-DQB1 gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A variation of the HLA-DQB1 gene called HLA-DQB1*06:02 has been strongly associated with narcolepsy, particularly in people who also have cataplexy and a loss of hypocretins. Most people with narcolepsy have the HLA-DQB1*06:02 variation, and many also have specific versions of other, closely related HLA genes. It is unclear how these genetic changes influence the risk of developing the condition.  Variations in several additional genes have also been associated with narcolepsy. Many of these genes are thought to play roles in immune system function. However, variations in these genes probably make only a small contribution to the overall risk of developing narcolepsy. Other genetic and environmental factors are also likely to influence a person's chances of developing this disorder. For example, studies suggest that bacterial or viral infections such as strep throat (streptococcus), colds, and influenza may be involved in triggering narcolepsy in people who are at risk. + GHR + narcolepsy
Is narcolepsy inherited ?
Most cases of narcolepsy are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (parents, siblings, and children) of people with narcolepsy with cataplexy have a 40 times greater risk of developing the condition compared with people in the general population. + GHR + narcolepsy
What are the treatments for narcolepsy ?
These resources address the diagnosis or management of narcolepsy:  - Genetic Testing Registry: Narcolepsy 1  - Genetic Testing Registry: Narcolepsy 2, susceptibility to  - Genetic Testing Registry: Narcolepsy 3  - Genetic Testing Registry: Narcolepsy 4, susceptibility to  - Genetic Testing Registry: Narcolepsy 5, susceptibility to  - Narcolepsy Network: Treatment   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 + narcolepsy
What is (are) retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood.  RAMSVPS damages the arteries in the light-sensitive tissue at the back of the eye (the retina). These arteries gradually develop multiple small bulges called beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) occur. These macroaneurysms can tear (rupture), leading to bleeding that can spread into other areas of the eye and cause vision loss.  People with RAMSVPS also have a heart condition called supravalvular pulmonic stenosis. Pulmonic stenosis is a narrowing that affects the pulmonic valve between the heart and the lungs. The term "supravalvular" means that the narrowing occurs just above the valve, in a blood vessel called the pulmonary artery. Supravalvular pulmonic stenosis impairs blood flow into the lungs, where blood normally picks up oxygen for distribution to cells and tissues throughout the body. As a result, less oxygen is carried through the bloodstream, leading to signs and symptoms that include shortness of breath; a rapid heartbeat; fatigue; and swelling in the face, feet, or abdomen. + GHR + retinal arterial macroaneurysm with supravalvular pulmonic stenosis
How many people are affected by retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?
RAMSVPS is a rare disorder. Only a small number of affected individuals and families, all from Saudi Arabia, have been described in the medical literature. + GHR + retinal arterial macroaneurysm with supravalvular pulmonic stenosis
What are the genetic changes related to retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?
RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). It is thought to help stop a pathway called BRAF signaling, which is involved in directing cell growth.  The IGFBP7 gene mutation that causes RAMSVPS results in an abnormally short IGFBP7 protein that does not function properly. Without normally functioning IGFBP7 protein to control BRAF signaling, this signaling is increased. It is unknown how this increase is related to the specific blood vessel abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences in normal levels of IGFBP7 protein in various parts of the body or the presence of other proteins with a similar function in different tissues may account for the specific signs and symptoms of this disorder. + GHR + retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Is retinal arterial macroaneurysm with supravalvular pulmonic stenosis 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 + retinal arterial macroaneurysm with supravalvular pulmonic stenosis
What are the treatments for retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?
These resources address the diagnosis or management of RAMSVPS:  - Calgary Retina Consultants: Retinal Arterial Macroaneurysm  - Genetic Testing Registry: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis  - MedlinePlus Encyclopedia: Fluorescein Angiography  - University of Rochester Medical Center: Pulmonary Stenosis   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 + retinal arterial macroaneurysm with supravalvular pulmonic stenosis
What is (are) X-linked severe combined immunodeficiency ?
X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy. + GHR + X-linked severe combined immunodeficiency
How many people are affected by X-linked severe combined immunodeficiency ?
X-linked SCID is the most common form of severe combined immunodeficiency. Its exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 newborns. + GHR + X-linked severe combined immunodeficiency
What are the genetic changes related to X-linked severe combined immunodeficiency ?
Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially harmful invaders, make antibodies, and help regulate the entire immune system. Mutations in the IL2RG gene prevent these cells from developing and functioning normally. Without functional lymphocytes, the body is unable to fight off infections. + GHR + X-linked severe combined immunodeficiency
Is X-linked severe combined immunodeficiency inherited ?
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. + GHR + X-linked severe combined immunodeficiency
What are the treatments for X-linked severe combined immunodeficiency ?
These resources address the diagnosis or management of X-linked SCID:  - Baby's First Test: Severe Combined Immunodeficiency  - Gene Review: Gene Review: X-Linked Severe Combined Immunodeficiency  - Genetic Testing Registry: X-linked severe combined immunodeficiency  - MedlinePlus Encyclopedia: Immunodeficiency Disorders  - National Marrow Donor Program: Severe Combined Immunodeficiency and Transplant   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 + X-linked severe combined immunodeficiency
What is (are) fibrochondrogenesis ?
Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood.  Fibrochondrogenesis is characterized by short stature (dwarfism) and other skeletal abnormalities. Affected individuals have shortened long bones in the arms and legs that are unusually wide at the ends (described as dumbbell-shaped). People with this condition also have a narrow chest with short, wide ribs and a round and prominent abdomen. The bones of the spine (vertebrae) are flattened (platyspondyly) and have a characteristic pinched or pear shape that is noticeable on x-rays. Other skeletal abnormalities associated with fibrochondrogenesis include abnormal curvature of the spine and underdeveloped hip (pelvic) bones.  People with fibrochondrogenesis also have distinctive facial features. These include prominent eyes, low-set ears, a small mouth with a long upper lip, and a small chin (micrognathia). Affected individuals have a relatively flat-appearing midface, particularly a small nose with a flat nasal bridge and nostrils that open to the front rather than downward (anteverted nares). Vision problems, including severe nearsightedness (high myopia) and clouding of the lens of the eye (cataract), are common in those who survive infancy. Most affected individuals also have sensorineural hearing loss, which is caused by abnormalities of the inner ear. + GHR + fibrochondrogenesis
How many people are affected by fibrochondrogenesis ?
Fibrochondrogenesis appears to be a rare disorder. About 20 affected individuals have been described in the medical literature. + GHR + fibrochondrogenesis
What are the genetic changes related to fibrochondrogenesis ?
Fibrochondrogenesis can result from mutations in the COL11A1 or COL11A2 gene. These genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Specifically, type XI collagen is found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear; the vitreous, which is the clear gel that fills the eyeball; and the nucleus pulposus, which is the center portion of the discs between vertebrae.  Mutations in the COL11A1 or COL11A2 gene impair the assembly of type XI collagen, in most cases leading to the production of abnormal collagen molecules. The defective collagen weakens connective tissues, impairing the formation of bones throughout the skeleton and causing changes in the eye and inner ear that lead to vision and hearing problems. + GHR + fibrochondrogenesis
Is fibrochondrogenesis inherited ?
Fibrochondrogenesis is generally 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 usually do not show signs and symptoms of the condition. In a few reported cases, parents of children with fibrochondrogenesis have had mild features that may be related to the condition, including slightly short stature, myopia, cataracts, joint pain, and hearing loss.  In at least one case of fibrochondrogenesis caused by a COL11A2 gene mutation, the condition was inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In this case, the condition resulted from a new (de novo) mutation in the gene that occurred during the formation of reproductive cells (eggs or sperm) in one of the affected individual's parents. There was no history of the disorder in the family. + GHR + fibrochondrogenesis
What are the treatments for fibrochondrogenesis ?
These resources address the diagnosis or management of fibrochondrogenesis:  - Genetic Testing Registry: Fibrochondrogenesis  - Genetic Testing Registry: Fibrochondrogenesis 2   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care + GHR + fibrochondrogenesis
What is (are) hereditary sensory neuropathy type IA ?
Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older. Weakness in the ankle muscles can make walking difficult. As the condition progresses, some people with hereditary sensory neuropathy type IA require wheelchair assistance.  Individuals with hereditary sensory neuropathy type IA typically get open sores (ulcers) on their feet or hands or infections of the soft tissue of the fingertips (whitlows) that are slow to heal. Because affected individuals cannot feel the pain of these sores, they may not seek immediate treatment. Without treatment, the ulcers can become infected and may require amputation of the surrounding area or limb.  Some people with hereditary sensory neuropathy type IA develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss typically develops in middle to late adulthood.  The signs and symptoms of hereditary sensory neuropathy type IA can begin anytime between adolescence and late adulthood. While the features of this condition tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated. + GHR + hereditary sensory neuropathy type IA
How many people are affected by hereditary sensory neuropathy type IA ?
Hereditary sensory neuropathy type IA is a rare condition; its prevalence is estimated to be 1 to 2 per 100,000 individuals. + GHR + hereditary sensory neuropathy type IA
What are the genetic changes related to hereditary sensory neuropathy type IA ?
Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions.  SPTLC1 gene mutations reduce the amount of functional SPTLC1 subunit that is produced, which results in an SPT enzyme with altered activity. This altered enzyme makes molecules called deoxysphingoid bases, which it does not normally produce. Because of this new function, the SPT enzyme's production of sphingolipid is reduced. Overall, there does not seem to be a decrease in sphingolipid production because the body is able to compensate for the SPT enzyme's reduced production. When accumulated, deoxysphingoid bases are toxic to neurons. The gradual destruction of nerve cells caused by the buildup of these toxic molecules results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type IA. Although the SPT enzyme does not produce a normal amount of sphingolipids, the body is able to compensate, and there does not seem to be an overall reduction of these fats in the body. + GHR + hereditary sensory neuropathy type IA
Is hereditary sensory neuropathy type IA 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. + GHR + hereditary sensory neuropathy type IA
What are the treatments for hereditary sensory neuropathy type IA ?
These resources address the diagnosis or management of hereditary sensory neuropathy type IA:  - Gene Review: Gene Review: Hereditary Sensory Neuropathy Type IA  - Genetic Testing Registry: Neuropathy hereditary sensory and autonomic type 1  - Rare Diseases Clinical Research Network: Inherited Neuropathies Consortium  - The Foundation for Peripheral Neuropathy: Symptoms   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 + hereditary sensory neuropathy type IA
What is (are) von Willebrand disease ?
Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Women with this condition typically have heavy or prolonged bleeding during menstruation (menorrhagia), and some may also experience reproductive tract bleeding during pregnancy and childbirth. In severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Symptoms of von Willebrand disease may change over time. Increased age, pregnancy, exercise, and stress may cause bleeding symptoms to become less frequent.  Von Willebrand disease is divided into three types, with type 2 being further divided into four subtypes. Type 1 is the mildest and most common of the three types, accounting for 75 percent of affected individuals. Type 3 is the most severe and rarest form of the condition. The four subtypes of type 2 von Willebrand disease are intermediate in severity. Another form of the disorder, acquired von Willebrand syndrome, is not caused by inherited gene mutations. Acquired von Willebrand syndrome is typically seen along with other disorders, such as diseases that affect bone marrow or immune cell function. This rare form of the condition is characterized by abnormal bleeding into the skin and other soft tissues, usually beginning in adulthood. + GHR + von Willebrand disease
How many people are affected by von Willebrand disease ?
Von Willebrand disease is estimated to affect 1 in 100 to 10,000 individuals. Because people with mild signs and symptoms may not come to medical attention, it is thought that this condition is underdiagnosed. Most researchers agree that von Willebrand disease is the most common genetic bleeding disorder. + GHR + von Willebrand disease
What are the genetic changes related to von Willebrand disease ?
Mutations in the VWF gene cause von Willebrand disease. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is essential for the formation of blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. Von Willebrand factor acts as a glue to hold blood clots together and prevents the breakdown of other blood clotting proteins. If von Willebrand factor does not function normally or too little of the protein is available, blood clots cannot form properly. Abnormally slow blood clotting causes the prolonged bleeding episodes seen in von Willebrand disease.  The three types of von Willebrand disease are based upon the amount of von Willebrand factor that is produced. Mutations in the VWF gene that reduce the amount of von Willebrand factor cause type 1 von Willebrand disease. People with type 1 have varying amounts of von Willebrand factor in their bloodstream. Some people with a mild case of type 1 never experience a prolonged bleeding episode. Mutations that disrupt the function of von Willebrand factor cause the four subtypes of type 2 von Willebrand disease. People with type 2 von Willebrand disease have bleeding episodes of varying severity depending on the extent of von Willebrand factor dysfunction, but the bleeding episodes are typically similar to those seen in type 1. Mutations that result in an abnormally short, nonfunctional von Willebrand factor generally cause type 3 von Willebrand disease. Because there is no functional protein, people with type 3 von Willebrand disease usually have severe bleeding episodes. + GHR + von Willebrand disease