fenil210/Med-Lamma huggingface dataset:
What are the genetic changes related to VLDLR-associated cerebellar hypoplasia ?
As its name suggests, VLDLR-associated cerebellar hypoplasia results from mutations in the VLDLR gene. This gene provides instructions for making a protein called a very low density lipoprotein (VLDL) receptor. Starting before birth, this protein plays a critical role in guiding the movement of developing nerve cells to their appropriate locations in the brain. Mutations in the VLDLR gene prevent cells from producing any functional VLDL receptor protein. Without this protein, developing nerve cells cannot reach the parts of the brain where they are needed. The resulting problems with brain development lead to ataxia and the other major features of this condition. + GHR + VLDLR-associated cerebellar hypoplasia
Is VLDLR-associated cerebellar hypoplasia 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 + VLDLR-associated cerebellar hypoplasia
What are the treatments for VLDLR-associated cerebellar hypoplasia ?
These resources address the diagnosis or management of VLDLR-associated cerebellar hypoplasia:  - Gene Review: Gene Review: Hereditary Ataxia Overview  - Gene Review: Gene Review: VLDLR-Associated Cerebellar Hypoplasia  - Genetic Testing Registry: Dysequilibrium 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 + VLDLR-associated cerebellar hypoplasia
What is (are) cholesteryl ester storage disease ?
Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body. The liver is most severely affected. An enlarged liver (hepatomegaly) is one of the key signs of the disease. In addition, chronic liver disease (cirrhosis) can develop. An accumulation of fatty deposits on the artery walls (atherosclerosis) is usually seen early in life. The deposits narrow the arteries and can eventually block them, increasing the chance of having a heart attack or stroke.  The symptoms of cholesteryl ester storage disease are highly variable. Some people have such mild symptoms that they go undiagnosed until late adulthood, while others can have liver dysfunction in early childhood. The expected lifespan of those with cholesteryl ester storage disease depends on the severity of the associated complications. + GHR + cholesteryl ester storage disease
How many people are affected by cholesteryl ester storage disease ?
Cholesteryl ester storage disease appears to be a rare disorder. About 50 individuals affected by this condition have been reported worldwide. + GHR + cholesteryl ester storage disease
What are the genetic changes related to cholesteryl ester storage disease ?
Mutations in the LIPA gene cause cholesteryl ester storage disease.  The LIPA gene provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down lipids such as cholesteryl esters and triglycerides.  In the body, cholesterol works with high-density lipoproteins (HDL), often referred to as "good cholesterol." High-density lipoproteins carry cholesterol from the body's tissues to the liver for removal. When the cholesterol is attached to a fatty acid it is a cholesteryl ester. Normally, cholesteryl esters are broken down by lysosomal acid lipase into cholesterol and a fatty acid. Then the cholesterol can be transported by HDL to the liver for removal.  Mutations in the LIPA gene lead to a shortage of lysosomal acid lipase and prevent the body from using lipids properly. Without the activity of lysosomal acid lipase, the cholesteryl esters stay in the blood and tissues and are not able to be transported to the liver for excretion. The resulting buildup of triglycerides, cholesteryl esters, and other fats within the cells and tissues cause the signs and symptoms of cholesteryl ester storage disease. + GHR + cholesteryl ester storage disease
Is cholesteryl ester storage 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 + cholesteryl ester storage disease
What are the treatments for cholesteryl ester storage disease ?
These resources address the diagnosis or management of cholesteryl ester storage disease:  - Genetic Testing Registry: Lysosomal acid lipase deficiency  - MedlinePlus Encyclopedia: Atherosclerosis  - MedlinePlus Encyclopedia: Cirrhosis   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 + cholesteryl ester storage disease
What is (are) nail-patella syndrome ?
Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.  Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape.  Individuals with nail-patella syndrome also commonly have skeletal abnormalities involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing. Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition.  Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure. + GHR + nail-patella syndrome
How many people are affected by nail-patella syndrome ?
The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals. + GHR + nail-patella syndrome
What are the genetic changes related to nail-patella syndrome ?
Mutations in the LMX1B gene cause nail-patella syndrome. The LMX1B gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. The LMX1B protein appears to be particularly important during early embryonic development of the limbs, kidneys, and eyes. Mutations in the LMX1B gene lead to the production of an abnormally short, nonfunctional protein or affect the protein's ability to bind to DNA. It is unclear how mutations in the LMX1B gene lead to the signs and symptoms of nail-patella syndrome. + GHR + nail-patella syndrome
Is nail-patella syndrome inherited ?
Nail-patella syndrome 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 inherits the mutation from one affected parent. Other cases may result from new mutations in the LMX1B gene. These cases occur in people with no history of the disorder in their family. + GHR + nail-patella syndrome
What are the treatments for nail-patella syndrome ?
These resources address the diagnosis or management of nail-patella syndrome:  - Gene Review: Gene Review: Nail-Patella Syndrome  - Genetic Testing Registry: Nail-patella 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 + nail-patella syndrome
What is (are) primary macronodular adrenal hyperplasia ?
Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels.  PMAH typically becomes evident in a person's forties or fifties. It is considered a form of Cushing syndrome, which is characterized by increased levels of cortisol resulting from one of many possible causes. These increased cortisol levels lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems. However, some people with PMAH do not experience these signs and symptoms and are said to have subclinical Cushing syndrome. + GHR + primary macronodular adrenal hyperplasia
How many people are affected by primary macronodular adrenal hyperplasia ?
PMAH is a rare disorder. It is present in less than 1 percent of cases of endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by factors internal to the body rather than by external factors such as long-term use of certain medicines called corticosteroids. The prevalence of endogenous Cushing syndrome is about 1 in 26,000 people. + GHR + primary macronodular adrenal hyperplasia
What are the genetic changes related to primary macronodular adrenal hyperplasia ?
In about half of individuals with PMAH, the condition is caused by mutations in the ARMC5 gene. This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. ARMC5 gene mutations are believed to impair the protein's tumor-suppressor function, which allows the overgrowth of certain cells. It is unclear why this overgrowth is limited to the formation of adrenal gland nodules in people with PMAH.  PMAH can also be caused by mutations in the GNAS gene. This gene provides instructions for making one component, the stimulatory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). The G protein produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of certain endocrine glands, including the adrenal glands. The GNAS gene mutations that cause PMAH are believed to result in an overactive G protein. Research suggests that the overactive G protein may increase levels of adenylate cyclase and result in the overproduction of another compound called cyclic AMP (cAMP). An excess of cAMP may trigger abnormal cell growth and lead to the adrenal nodules characteristic of PMAH.  Mutations in other genes, some of which are unknown, can also cause PMAH. + GHR + primary macronodular adrenal hyperplasia
Is primary macronodular adrenal hyperplasia inherited ?
People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. The inheritance is considered autosomal dominant because one copy of the mutated gene is sufficient to make an individual susceptible to PMAH. However, the condition develops only when affected individuals acquire another mutation in the other copy of the ARMC5 gene in certain cells of the adrenal glands. This second mutation is described as somatic. Instead of being passed from parent to child, somatic mutations are acquired during a person's lifetime and are present only in certain cells. Because somatic mutations are also required for PMAH to occur, some people who have inherited the altered ARMC5 gene never develop the condition, a situation known as reduced penetrance.  When PMAH is caused by GNAS gene mutations, the condition is not inherited. The GNAS gene mutations that cause PMAH are somatic mutations. In PMAH, the gene mutation is believed to occur early in embryonic development. Cells with the mutated GNAS gene can be found in both adrenal glands. + GHR + primary macronodular adrenal hyperplasia
What are the treatments for primary macronodular adrenal hyperplasia ?
These resources address the diagnosis or management of PMAH:  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Adrenal Gland Disorders?  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What are the Treatments for Adrenal Gland Disorders?  - Genetic Testing Registry: Acth-independent macronodular adrenal hyperplasia 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 + primary macronodular adrenal hyperplasia
What is (are) GM3 synthase deficiency ?
GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.  GM3 synthase deficiency profoundly disrupts brain development. Most affected children have severe intellectual disability and do not develop skills such as reaching for objects, speaking, sitting without support, or walking. Some have involuntary twisting or jerking movements of the arms that are described as choreoathetoid. Although affected infants can likely see and hear at birth, vision and hearing become impaired as the disease worsens. It is unknown how long people with GM3 synthase deficiency usually survive.  Some affected individuals have changes in skin coloring (pigmentation), including dark freckle-like spots on the arms and legs and light patches on the arms, legs, and face. These changes appear in childhood and may become more or less apparent over time. The skin changes do not cause any symptoms, but they can help doctors diagnose GM3 synthase deficiency in children who also have seizures and delayed development. + GHR + GM3 synthase deficiency
How many people are affected by GM3 synthase deficiency ?
GM3 synthase deficiency appears to be a rare condition. About 50 cases have been reported, mostly from Old Order Amish communities. + GHR + GM3 synthase deficiency
What are the genetic changes related to GM3 synthase deficiency ?
Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for making an enzyme called GM3 synthase, which carries out a chemical reaction that is the first step in the production of molecules called gangliosides. These molecules are present in cells and tissues throughout the body, and they are particularly abundant in the nervous system. Although their exact functions are unclear, gangliosides appear to be important for normal brain development and function.  ST3GAL5 gene mutations prevent the production of any functional GM3 synthase. Without this enzyme, cells cannot produce gangliosides normally. It is unclear how a loss of this enzyme leads to the signs and symptoms of GM3 synthase deficiency. Researchers are working to determine whether it is the lack of gangliosides or a buildup of compounds used to make gangliosides, or both, that underlies the seizures and other problems with brain development that occur in this condition. The connection between a shortage of GM3 synthase and changes in skin pigmentation is also unknown. + GHR + GM3 synthase deficiency
Is GM3 synthase 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 + GM3 synthase deficiency
What are the treatments for GM3 synthase deficiency ?
These resources address the diagnosis or management of GM3 synthase deficiency:  - American Epilepsy Society: Find a Doctor  - Clinic for Special Children (Strasburg, Pennsylvania)  - Genetic Testing Registry: Amish infantile epilepsy 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 + GM3 synthase deficiency
What is (are) combined pituitary hormone deficiency ?
Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood.  People with combined pituitary hormone deficiency may have hypothyroidism, which is underactivity of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other features of combined pituitary hormone deficiency include delayed or absent puberty and lack the ability to have biological children (infertility). The condition can also be associated with a deficiency of the hormone cortisol. Cortisol deficiency can impair the body's immune system, causing individuals to be more susceptible to infection.  Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, which carry visual information from the eyes to the brain. + GHR + combined pituitary hormone deficiency
How many people are affected by combined pituitary hormone deficiency ?
The prevalence of combined pituitary hormone deficiency is estimated to be 1 in 8,000 individuals worldwide. + GHR + combined pituitary hormone deficiency
What are the genetic changes related to combined pituitary hormone deficiency ?
Mutations in at least eight genes have been found to cause combined pituitary hormone deficiency. Mutations in the PROP1 gene are the most common known cause of this disorder, accounting for an estimated 12 to 55 percent of cases. Mutations in other genes have each been identified in a smaller number of affected individuals.  The genes associated with combined pituitary hormone deficiency provide instructions for making proteins called transcription factors, which help control the activity of many other genes. The proteins are involved in the development of the pituitary gland and the specialization (differentiation) of its cell types. The cells of the pituitary gland are responsible for triggering the release of several hormones that direct the development of many parts of the body. Some of the transcription factors are found only in the pituitary gland, and some are also active in other parts of the body.  Mutations in the genes associated with combined pituitary hormone deficiency can result in abnormal differentiation of pituitary gland cells and may prevent the production of several hormones. These hormones can include growth hormone (GH), which is needed for normal growth; follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which both play a role in sexual development and the ability to have children (fertility); thyroid-stimulating hormone (TSH), which helps with thyroid gland function; prolactin, which stimulates the production of breast milk; and adrenocorticotropic hormone (ACTH), which influences energy production in the body and maintains normal blood sugar and blood pressure levels. The degree to which these hormones are deficient is variable, with prolactin and ACTH showing the most variability. In many affected individuals, ACTH deficiency does not occur until late adulthood.  Most people with combined pituitary hormone deficiency do not have identified mutations in any of the genes known to be associated with this condition. The cause of the disorder in these individuals is unknown. + GHR + combined pituitary hormone deficiency
Is combined pituitary hormone deficiency inherited ?
Most cases of combined pituitary hormone deficiency are sporadic, which means they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance.  Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder.  Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition. Most cases of familial combined pituitary hormone deficiency are inherited in an autosomal recessive pattern. + GHR + combined pituitary hormone deficiency