fenil210/Med-Lamma huggingface dataset:
What are the genetic changes related to gastrointestinal stromal tumor ?
Genetic changes in one of several genes are involved in the formation of GISTs. About 80 percent of cases are associated with a mutation in the KIT gene, and about 10 percent of cases are associated with a mutation in the PDGFRA gene. Mutations in the KIT and PDGFRA genes are associated with both familial and sporadic GISTs. A small number of affected individuals have mutations in other genes.  The KIT and PDGFRA genes provide instructions for making receptor proteins that are found in the cell membrane of certain cell types and stimulate signaling pathways inside the cell. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When the ligand attaches (binds), the KIT or PDGFRA receptor protein is turned on (activated), which leads to activation of a series of proteins in multiple signaling pathways. These signaling pathways control many important cellular processes, such as cell growth and division (proliferation) and survival.  Mutations in the KIT and PDGFRA genes lead to proteins that no longer require ligand binding to be activated. As a result, the proteins and the signaling pathways are constantly turned on (constitutively activated), which increases the proliferation and survival of cells. When these mutations occur in ICCs or their precursors, the uncontrolled cell growth leads to GIST formation. + GHR + gastrointestinal stromal tumor
Is gastrointestinal stromal tumor inherited ?
Most cases of GIST are not inherited. Sporadic GIST is associated with somatic mutations, which are genetic changes that occur only in the tumor cells and occur during a person's lifetime.  In some cases of familial GIST, including those associated with mutations in the KIT and PDGFRA genes, mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing tumors.  When familial GIST is associated with mutations in other genes, it can have an autosomal recessive pattern of inheritance, which means alterations in both copies of the gene in each cell increase a person's chance of developing tumors. + GHR + gastrointestinal stromal tumor
What are the treatments for gastrointestinal stromal tumor ?
These resources address the diagnosis or management of gastrointestinal stromal tumor:  - American Cancer Society: Treating Gastrointestinal Stromal Tumor (GIST)  - Cancer.Net: Gastrointestinal Stromal Tumor--Diagnosis  - Genetic Testing Registry: Gastrointestinal stromal tumor   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 + gastrointestinal stromal tumor
What is (are) spastic paraplegia type 31 ?
Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types also involve the upper limbs and other areas of the body, including the brain. Spastic paraplegia type 31 is usually a pure hereditary spastic paraplegia, although a few complicated cases have been reported.  The first signs and symptoms of spastic paraplegia type 31 usually appear before age 20 or after age 30. An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet (pes cavus). As the condition progresses, some individuals require walking support. + GHR + spastic paraplegia type 31
How many people are affected by spastic paraplegia type 31 ?
Spastic paraplegia type 31 is one of a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of one to 12 per 100,000 individuals. Spastic paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant hereditary spastic paraplegia cases. + GHR + spastic paraplegia type 31
What are the genetic changes related to spastic paraplegia type 31 ?
Spastic paraplegia type 31 is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in neurons in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport. The REEP1 protein plays a role in regulating the size of the endoplasmic reticulum and determining how many proteins it can process. The function of the REEP1 protein in the mitochondria is unknown.  REEP1 gene mutations that cause spastic paraplegia type 31 result in a short, nonfunctional protein that is usually broken down quickly. As a result, there is a reduction in functional REEP1 protein. It is unclear how REEP1 gene mutations lead to the signs and symptoms of spastic paraplegia type 31. Researchers have shown that mitochondria in cells of affected individuals are less able to produce energy, which may contribute to the death of neurons and lead to the progressive movement problems of spastic paraplegia type 31; however, the exact mechanism that causes this condition is unknown. + GHR + spastic paraplegia type 31
Is spastic paraplegia type 31 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 + spastic paraplegia type 31
What are the treatments for spastic paraplegia type 31 ?
These resources address the diagnosis or management of spastic paraplegia type 31:  - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview  - Genetic Testing Registry: Spastic paraplegia 31, autosomal dominant  - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies   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 + spastic paraplegia type 31
What is (are) dentinogenesis imperfecta ?
Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.  Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta.  Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth. + GHR + dentinogenesis imperfecta
How many people are affected by dentinogenesis imperfecta ?
Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people. + GHR + dentinogenesis imperfecta
What are the genetic changes related to dentinogenesis imperfecta ?
Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes (most often the COL1A1 or COL1A2 genes).  The DSPP gene provides instructions for making two proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP gene mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear whether DSPP gene mutations are related to the hearing loss found in a few older individuals with dentinogenesis imperfecta type II. + GHR + dentinogenesis imperfecta
Is dentinogenesis imperfecta 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.  In most cases, an affected person has one parent with the condition. + GHR + dentinogenesis imperfecta
What are the treatments for dentinogenesis imperfecta ?
These resources address the diagnosis or management of dentinogenesis imperfecta:  - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type II  - Genetic Testing Registry: Dentinogenesis imperfecta - Shield's type III  - MedlinePlus Encyclopedia: Tooth - abnormal colors   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 + dentinogenesis imperfecta
What is (are) neutral lipid storage disease with myopathy ?
Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid activity (hypothyroidism), and type 2 diabetes mellitus (the most common form of diabetes). Signs and symptoms of neutral lipid storage disease with myopathy vary greatly among affected individuals. + GHR + neutral lipid storage disease with myopathy
How many people are affected by neutral lipid storage disease with myopathy ?
Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown. + GHR + neutral lipid storage disease with myopathy
What are the genetic changes related to neutral lipid storage disease with myopathy ?
Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy.  PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides. These triglycerides then accumulate in muscle and tissues throughout the body, resulting in the signs and symptoms of neutral lipid storage disease with myopathy. + GHR + neutral lipid storage disease with myopathy
Is neutral lipid storage disease with myopathy 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 + neutral lipid storage disease with myopathy
What are the treatments for neutral lipid storage disease with myopathy ?
These resources address the diagnosis or management of neutral lipid storage disease with myopathy:  - Genetic Testing Registry: Neutral lipid storage disease with myopathy  - MedlinePlus Encyclopedia: Hypothyroidism  - MedlinePlus Encyclopedia: Type 2 Diabetes   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 + neutral lipid storage disease with myopathy
What is (are) congenital dyserythropoietic anemia ?
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.  Researchers have identified three major types of CDA: type I, type II, and type III. The types have different genetic causes and different but overlapping patterns of signs and symptoms.  CDA type I is characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes.  The anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. This form of the disorder is usually diagnosed in adolescence or early adulthood. An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis.  The signs and symptoms of CDA type III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. Some people with CDA type III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma).  Several other variants of CDA have been described, although they appear to be rare and not much is known about them. Once researchers discover the genetic causes of these variants, some of them may be grouped with the three major types of CDA. + GHR + congenital dyserythropoietic anemia
How many people are affected by congenital dyserythropoietic anemia ?
Several hundred cases of CDA have been reported worldwide. CDA type II is the most common form of the disorder, with more than 300 reported cases. CDA type III is the rarest form; it has been described in only a few families from Sweden, Argentina, and the United States. The incidence of CDA type I is unknown. Because CDA is so rare and its signs and symptoms overlap with those of other disorders, many cases likely remain undiagnosed or are incorrectly diagnosed as other disorders. + GHR + congenital dyserythropoietic anemia
What are the genetic changes related to congenital dyserythropoietic anemia ?
CDA type I usually results from mutations in the CDAN1 gene. Little is known about the function of this gene, and it is unclear how mutations cause the characteristic features of CDA type I. Some people with this condition do not have identified mutations in the CDAN1 gene, leading researchers to believe that mutations in at least one other gene can also cause this form of the disorder.  CDA type II is caused by mutations in the SEC23B gene. This gene provides instructions for making a protein that is involved in the transport of other proteins within cells. During the development of red blood cells, this protein may help ensure that proteins are transported to the areas where they are needed. Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II.  The genetic cause of CDA type III has not been identified. It likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q22. Researchers continue to search for the specific gene associated with this form of the condition.  The genetic changes responsible for CDA disrupt the normal development of red blood cells, a process called erythropoiesis. The term "dyserythropoietic" in the name of this condition means abnormal red blood cell formation. In people with CDA, immature red blood cells called erythroblasts are unusually shaped and have other abnormalities (such as extra nuclei). These abnormal erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including hepatosplenomegaly and an abnormal buildup of iron. + GHR + congenital dyserythropoietic anemia
Is congenital dyserythropoietic anemia inherited ?
The inheritance pattern of CDA depends on the type of the disorder. CDA types I and II are inherited in an autosomal recessive pattern, which means both copies of the associated 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.  In several families, CDA type III appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In these families, affected individuals often have a parent and other relatives with the condition. + GHR + congenital dyserythropoietic anemia
What are the treatments for congenital dyserythropoietic anemia ?
These resources address the diagnosis or management of CDA:  - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I  - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I  - Genetic Testing Registry: Congenital dyserythropoietic anemia, type II  - Genetic Testing Registry: Congenital dyserythropoietic anemia, type III  - MedlinePlus Encyclopedia: Ham Test  - MedlinePlus Encyclopedia: Hepatomegaly  - MedlinePlus Encyclopedia: Jaundice  - MedlinePlus Encyclopedia: Splenomegaly   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 + congenital dyserythropoietic anemia
What is (are) multicentric osteolysis, nodulosis, and arthropathy ?
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.  In most cases of MONA, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities can later spread to other areas of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature.  Many affected individuals develop subcutaneous nodules, which are firm lumps of noncancerous tissue underneath the skin, especially on the soles of the feet. Some affected individuals also have skin abnormalities including patches of dark, thick, and leathery skin. Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse." + GHR + multicentric osteolysis, nodulosis, and arthropathy
How many people are affected by multicentric osteolysis, nodulosis, and arthropathy ?
MONA is rare; its prevalence is unknown. This condition has been reported in multiple populations worldwide. + GHR + multicentric osteolysis, nodulosis, and arthropathy
What are the genetic changes related to multicentric osteolysis, nodulosis, and arthropathy ?
MONA results from mutations in the MMP2 gene. This gene provides instructions for making an enzyme called matrix metallopeptidase 2, whose primary function is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it.  The MMP2 gene mutations that cause MONA completely eliminate the activity of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how a loss of enzyme activity leads to the specific features of MONA. Researchers suspect that it somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, resulting in a progressive loss of bone tissue. How a shortage of matrix metallopeptidase 2 leads to the other features of MONA, such as subcutaneous nodules and skin abnormalities, is unknown. + GHR + multicentric osteolysis, nodulosis, and arthropathy
Is multicentric osteolysis, nodulosis, and arthropathy 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 + multicentric osteolysis, nodulosis, and arthropathy
What are the treatments for multicentric osteolysis, nodulosis, and arthropathy ?
These resources address the diagnosis or management of MONA:  - Genetic Testing Registry: Multicentric osteolysis, nodulosis and arthropathy   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 + multicentric osteolysis, nodulosis, and arthropathy