fenil210/Med-Lamma huggingface dataset:
What are the genetic changes related to 21-hydroxylase deficiency ?
Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone. Cortisol has numerous functions, such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidneys. The retention of salt affects fluid levels in the body and blood pressure.  21-hydroxylase deficiency is caused by a shortage (deficiency) of the 21-hydroxylase enzyme. When 21-hydroxylase is lacking, substances that are usually used to form cortisol and aldosterone instead build up in the adrenal glands and are converted to androgens. The excess production of androgens leads to abnormalities of sexual development in people with 21-hydroxylase deficiency. A lack of aldosterone production contributes to the salt loss in people with the salt-wasting form of this condition.  The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. Individuals with the salt-wasting type have CYP21A2 mutations that result in a completely nonfunctional enzyme. People with the simple virilizing type of this condition have CYP21A2 gene mutations that allow the production of low levels of functional enzyme. Individuals with the non-classic type of this disorder have CYP21A2 mutations that result in the production of reduced amounts of the enzyme, but more enzyme than either of the other types. + GHR + 21-hydroxylase deficiency
Is 21-hydroxylase 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 + 21-hydroxylase deficiency
What are the treatments for 21-hydroxylase deficiency ?
These resources address the diagnosis or management of 21-hydroxylase deficiency:  - Baby's First Test  - CARES Foundation: Treatment  - Gene Review: Gene Review: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia  - Genetic Testing Registry: 21-hydroxylase deficiency  - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia   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 + 21-hydroxylase deficiency
What is (are) mycosis fungoides ?
Mycosis fungoides is the most common form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. Although the skin is involved, the skin cells themselves are not cancerous. Mycosis fungoides usually occurs in adults over age 50, although affected children have been identified.  Mycosis fungoides progresses slowly through several stages, although not all people with the condition progress through all stages. Most affected individuals initially develop skin lesions called patches, which are flat, scaly, pink or red areas on the skin that can be itchy. Cancerous T cells, which cause the formation of patches, are found in these lesions. The skin cells themselves are not cancerous; the skin problems result when cancerous T cells move from the blood into the skin. Patches are most commonly found on the lower abdomen, upper thighs, buttocks, and breasts. They can disappear and reappear or remain stable over time. In most affected individuals, patches progress to plaques, the next stage of mycosis fungoides.  Plaques are raised lesions that are usually reddish, purplish, or brownish in color and itchy. Plaques commonly occur in the same body regions as patches. While some plaques arise from patches, others develop on their own, and an affected person can have both patches and plaques simultaneously. As with patches, cancerous T cells are found in plaques. Plaques can remain stable or can develop into tumors. Not everyone with patches or plaques develops tumors.  The tumors in mycosis fungoides, which are composed of cancerous T cells, are raised nodules that are thicker and deeper than plaques. They can arise from patches or plaques or occur on their own. Mycosis fungoides was so named because the tumors can resemble mushrooms, a type of fungus. Common locations for tumor development include the upper thighs and groin, breasts, armpits, and the crook of the elbow. Open sores may develop on the tumors, often leading to infection.  In any stage of mycosis fungoides, the cancerous T cells can spread to other organs, including the lymph nodes, spleen, liver, and lungs, although this most commonly occurs in the tumor stage. In addition, affected individuals have an increased risk of developing another lymphoma or other type of cancer. + GHR + mycosis fungoides
How many people are affected by mycosis fungoides ?
Mycosis fungoides occurs in about 1 in 100,000 to 350,000 individuals. It accounts for approximately 70 percent of cutaneous T-cell lymphomas. For unknown reasons, mycosis fungoides affects males nearly twice as often as females. In the United States, there are an estimated 3.6 cases per million people each year. The condition has been found in regions around the world. + GHR + mycosis fungoides
What are the genetic changes related to mycosis fungoides ?
The cause of mycosis fungoides is unknown. Most affected individuals have one or more chromosomal abnormalities, such as the loss or gain of genetic material. These abnormalities occur during a person's lifetime and are found only in the DNA of cancerous cells. Abnormalities have been found on most chromosomes, but some regions are more commonly affected than others. People with this condition tend to have additions of DNA in regions of chromosomes 7 and 17 or loss of DNA from regions of chromosomes 9 and 10. It is unclear whether these genetic changes play a role in mycosis fungoides, although the tendency to acquire chromosome abnormalities (chromosomal instability) is a feature of many cancers. It can lead to genetic changes that allow cells to grow and divide uncontrollably.  Other research suggests that certain variants of HLA class II genes are associated with mycosis fungoides. HLA genes help the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. The specific variants are inherited through families. Certain variations of HLA genes may affect the risk of developing mycosis fungoides or may impact progression of the disorder.  It is possible that other factors, such as environmental exposure or certain bacterial or viral infections, are involved in the development of mycosis fungoides. However, the influence of genetic and environmental factors on the development of this complex disorder remains unclear. + GHR + mycosis fungoides
Is mycosis fungoides inherited ?
The inheritance pattern of mycosis fungoides has not been determined. Although the condition has been found in multiple members of more than a dozen families, it most often occurs in people with no history of the disorder in their family and is typically not inherited. + GHR + mycosis fungoides
What are the treatments for mycosis fungoides ?
These resources address the diagnosis or management of mycosis fungoides:  - Cancer Research UK: Treatments for Cutaneous T-Cell Lymphoma  - Genetic Testing Registry: Mycosis fungoides  - Lymphoma Research Foundation: Cutaneous T-Cell Lymphoma Treatment Options  - National Cancer Institute: Mycosis Fungoides and the Szary Syndrome 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 + mycosis fungoides
What is (are) essential pentosuria ?
Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. + GHR + essential pentosuria
How many people are affected by essential pentosuria ?
Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected. + GHR + essential pentosuria
What are the genetic changes related to essential pentosuria ?
Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl/L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xylitol. This reaction is one step in a process by which the body can use sugars for energy.  DCXR gene mutations lead to the production of altered DCXR proteins that are quickly broken down. Without this protein, L-xylulose is not converted to xylitol, and the excess sugar is released in the urine.  While essential pentosuria is caused by genetic mutations, some people develop a non-inherited form of pentosuria if they eat excessive amounts of fruits high in L-xylulose or another pentose called L-arabinose. This form of the condition, which disappears if the diet is changed, is referred to as alimentary pentosuria. Studies show that some drugs can also cause a form of temporary pentosuria called drug-induced pentosuria. These non-inherited forms of the condition also do not cause any health problems. + GHR + essential pentosuria
Is essential pentosuria 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 + essential pentosuria
What are the treatments for essential pentosuria ?
These resources address the diagnosis or management of essential pentosuria:  - Genetic Testing Registry: Essential pentosuria   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 + essential pentosuria
How many people are affected by Wolfram syndrome ?
The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. Approximately 200 cases have been described in the scientific literature. Only a few families from Jordan have been found to have Wolfram syndrome type 2. + GHR + Wolfram syndrome
What are the genetic changes related to Wolfram syndrome ?
Mutations in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases. This gene provides instructions for producing a protein called wolframin that is thought to regulate the amount of calcium in cells. A proper calcium balance is important for many different cellular functions, including cell-to-cell communication, the tensing (contraction) of muscles, and protein processing. The wolframin protein is found in many different tissues, such as the pancreas, brain, heart, bones, muscles, lung, liver, and kidneys. Within cells, wolframin is located in the membrane of a cell structure called the endoplasmic reticulum that is involved in protein production, processing, and transport. Wolframin's function is important in the pancreas, where the protein is thought to help process a protein called proinsulin into the mature hormone insulin. This hormone helps control blood sugar levels.  WFS1 gene mutations lead to the production of a wolframin protein that has reduced or absent function. As a result, calcium levels within cells are not regulated and the endoplasmic reticulum does not work correctly. When the endoplasmic reticulum does not have enough functional wolframin, the cell triggers its own cell death (apoptosis). The death of cells in the pancreas, specifically cells that make insulin (beta cells), causes diabetes mellitus in people with Wolfram syndrome. The gradual loss of cells along the optic nerve eventually leads to blindness in affected individuals. The death of cells in other body systems likely causes the various signs and symptoms of Wolfram syndrome type 1.  A certain mutation in the CISD2 gene was found to cause Wolfram syndrome type 2. The CISD2 gene provides instructions for making a protein that is located in the outer membrane of cell structures called mitochondria. Mitochondria are the energy-producing centers of cells. The exact function of the CISD2 protein is unknown, but it is thought to help keep mitochondria functioning normally.  The CISD2 gene mutation that causes Wolfram syndrome type 2 results in an abnormally small, nonfunctional CISD2 protein. As a result, mitochondria are not properly maintained, and they eventually break down. Since the mitochondria provide energy to cells, the loss of mitochondria results in decreased energy for cells. Cells that do not have enough energy to function will eventually die. Cells with high energy demands such as nerve cells in the brain, eye, or gastrointestinal tract are most susceptible to cell death due to reduced energy. It is unknown why people with CISD2 gene mutations have ulcers and bleeding problems in addition to the usual Wolfram syndrome features.  Some people with Wolfram syndrome do not have an identified mutation in either the WFS1 or CISD2 gene. The cause of the condition in these individuals is unknown. + GHR + Wolfram syndrome
Is Wolfram syndrome inherited ?
When Wolfram syndrome is caused by mutations in the WFS1 gene, it 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. Some studies have shown that people who carry one copy of a WFS1 gene mutation are at increased risk of developing individual features of Wolfram syndrome or related features, such as type 2 diabetes, hearing loss, or psychiatric illness. However, other studies have found no increased risk in these individuals.  Wolfram syndrome caused by mutations in the CISD2 gene is also inherited in an autosomal recessive pattern. + GHR + Wolfram syndrome
What are the treatments for Wolfram syndrome ?
These resources address the diagnosis or management of Wolfram syndrome:  - Gene Review: Gene Review: WFS1-Related Disorders  - Genetic Testing Registry: Diabetes mellitus AND insipidus with optic atrophy AND deafness  - Genetic Testing Registry: Wolfram syndrome 2  - Johns Hopkins Medicine: Diabetes Insipidus  - MedlinePlus Encyclopedia: Diabetes Insipidus--Central  - Washington University, St. Louis: Wolfram Syndrome International Registry   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 + Wolfram syndrome
What is (are) familial hypobetalipoproteinemia ?
Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver. In more severely affected individuals, fatty liver may progress to chronic liver disease (cirrhosis). Individuals with severe FHBL have greater difficulty absorbing fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive). + GHR + familial hypobetalipoproteinemia
How many people are affected by familial hypobetalipoproteinemia ?
FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals. + GHR + familial hypobetalipoproteinemia
What are the genetic changes related to familial hypobetalipoproteinemia ?
Most cases of FHBL are caused by mutations in the APOB gene. This gene provides instructions for making two versions of the apolipoprotein B protein: a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. Both of these proteins are components of lipoproteins, which transport fats and cholesterol in the blood.  Most APOB gene mutations that lead to FHBL cause both versions of apolipoprotein B to be abnormally short. The severity of the condition largely depends on the length of these two versions of apolipoprotein B. Severely shortened versions cannot partner with lipoproteins and transport fats and cholesterol. Proteins that are only slightly shortened retain some function but partner less effectively with lipoproteins. Generally, the signs and symptoms of FHBL are worse if both versions of apolipoprotein B are severely shortened. Mild or no signs and symptoms result when the proteins are only slightly shortened. All of these protein changes lead to a reduction of functional apolipoprotein B. As a result, the transportation of dietary fats and cholesterol is decreased or absent. A decrease in fat transport reduces the body's ability to absorb fats and fat-soluble vitamins from the diet.  Although APOB gene mutations are responsible for most cases of FHBL, mutations in a few other genes account for a small number of cases. Some people with FHBL do not have identified mutations in any of these genes. Changes in other, unidentified genes are likely involved in this condition. + GHR + familial hypobetalipoproteinemia
Is familial hypobetalipoproteinemia inherited ?
This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cause more severe health problems. + GHR + familial hypobetalipoproteinemia
What are the treatments for familial hypobetalipoproteinemia ?
These resources address the diagnosis or management of familial hypobetalipoproteinemia:  - Genetic Testing Registry: Familial hypobetalipoproteinemia  - Genetic Testing Registry: Hypobetalipoproteinemia, familial, 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 + familial hypobetalipoproteinemia
What is (are) proopiomelanocortin deficiency ?
Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.  Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes.  Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which can cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal.  Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics. + GHR + proopiomelanocortin deficiency
How many people are affected by proopiomelanocortin deficiency ?
POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature. + GHR + proopiomelanocortin deficiency
What are the genetic changes related to proopiomelanocortin deficiency ?
POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cortisol from the adrenal glands. Cortisol is involved in the maintenance of blood sugar levels. Another peptide, alpha-melanocyte stimulating hormone (-MSH), plays a role in the production of the pigment that gives skin and hair their color. The -MSH peptide and another peptide called beta-melanocyte stimulating hormone (-MSH) act in the brain to help maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight.  POMC gene mutations that cause POMC deficiency result in production of an abnormally short version of the POMC protein or no protein at all. As a result, there is a shortage of the peptides made from POMC, including ACTH, -MSH, and -MSH. Without ACTH, there is a reduction in cortisol production, leading to adrenal insufficiency. Decreased -MSH in the skin reduces pigment production, resulting in the red hair and pale skin often seen in people with POMC deficiency. Loss of -MSH and -MSH in the brain dysregulates the body's energy balance, leading to overeating and severe obesity.  POMC deficiency is a rare cause of obesity; POMC gene mutations are not frequently associated with more common, complex forms of obesity. Researchers are studying other factors that are likely involved in these forms. + GHR + proopiomelanocortin deficiency
Is proopiomelanocortin deficiency inherited ?
POMC deficiency 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 this condition each carry one copy of the mutated gene. They typically do not have POMC deficiency, but they may have an increased risk of obesity. + GHR + proopiomelanocortin deficiency
What are the treatments for proopiomelanocortin deficiency ?
These resources address the diagnosis or management of proopiomelanocortin deficiency:  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight Diagnosed?  - Gene Review: Gene Review: Proopiomelanocortin Deficiency  - Genetic Testing Registry: Proopiomelanocortin deficiency  - MedlinePlus Encyclopedia: ACTH  - National Heart Lung and Blood Institute: How Are Overweight and Obesity Treated?  - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency   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 + proopiomelanocortin deficiency