Druvith/transformed_medDataset huggingface dataset:
What are the genetic changes related to mannose-binding lectin deficiency ? 
 Relatively common mutations in the MBL2 gene can lead to mannose-binding lectin deficiency. This gene provides instructions for making a protein that assembles into a complex called mannose-binding lectin. Functional mannose-binding lectins are made up of two to six protein groups called trimers, which are each composed of three of the protein pieces (subunits) produced from the MBL2 gene.  Mannose-binding lectin plays an important role in the body's immune response by attaching to foreign invaders such as bacteria, viruses, or yeast and turning on (activating) the complement system. The complement system is a group of immune system proteins that work together to destroy foreign invaders (pathogens), trigger inflammation, and remove debris from cells and tissues. Mannose-binding lectin can also stimulate special immune cells to engulf and break down the attached pathogen.  Disease-associated mutations in the MBL2 gene can reduce the production of the mannose-binding lectin subunit or eliminate the subunit's ability to assemble into functional mannose-binding lectin. A decrease in the availability of the normal subunit protein may lead to a reduction of the functional mannose-binding lectin in blood. With decreased levels of mannose-binding lectin, the body does not recognize and fight foreign invaders efficiently. Consequently, infections can be more common in people with this condition.  However, not everyone with a change in the MBL2 gene has decreased levels of mannose-binding lectin, and not everyone with decreased protein levels is prone to infection. Researchers believe that a number of factors, including other genetic and environmental factors, are involved in the development of mannose-binding lectin deficiency and susceptibility to infection.
Is mannose-binding lectin deficiency inherited ? 
 The inheritance pattern of mannose-binding lectin deficiency is unclear. Some reports show that having a disease-associated mutation in one copy of the MBL2 gene in each cell can lead to the condition, while other reports state that a mutation in both copies of the gene is necessary. It is important to note that people inherit an increased risk of developing mannose-binding lectin deficiency, not the condition itself. Not all people who inherit mutations in this gene will develop the condition.
What are the treatments for mannose-binding lectin deficiency ? 
 These resources address the diagnosis or management of mannose-binding lectin deficiency:  - Genetic Testing Registry: Mannose-binding protein deficiency   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
What is (are) infantile systemic hyalinosis ? 
 Infantile systemic hyalinosis is a disorder that severely affects many areas of the body, including the skin, joints, bones, and internal organs. Hyalinosis refers to the abnormal accumulation of a clear (hyaline) substance in body tissues. The signs and symptoms of this condition are present at birth or develop within the first few months of life. Infantile systemic hyalinosis is characterized by painful skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. They also develop in joint creases and the genital region. These skin bumps may be large or small and often increase in number over time.  Lumps of noncancerous tissue also form in the muscles and internal organs of children with infantile systemic hyalinosis, causing pain and severe complications. Most affected individuals develop a condition called protein-losing enteropathy due to the formation of lumps in their intestines. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia).  Infantile systemic hyalinosis is also characterized by overgrowth of the gums (gingival hypertrophy). Additionally, people with this condition have joint deformities (contractures) that impair movement. Affected individuals may grow slowly and have bone abnormalities.  Although children with infantile systemic hyalinosis have severe physical limitations, mental development is typically normal. Affected individuals often do not survive beyond early childhood due to chronic diarrhea and recurrent infections.
How many people are affected by infantile systemic hyalinosis ? 
 The prevalence of infantile systemic hyalinosis is unknown. Fewer than 20 people with this disorder have been reported.
What are the genetic changes related to infantile systemic hyalinosis ? 
 Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause infantile systemic hyalinosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues.  The signs and symptoms of infantile systemic hyalinosis are caused by the accumulation of a hyaline substance in different parts of the body. The nature of this substance is not well known, but it is likely made up of protein and sugar molecules. Researchers suspect that mutations in the ANTXR2 gene disrupt the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues.
Is infantile systemic hyalinosis 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.
What are the treatments for infantile systemic hyalinosis ? 
 These resources address the diagnosis or management of infantile systemic hyalinosis:  - Gene Review: Gene Review: Hyalinosis, Inherited Systemic  - Genetic Testing Registry: Hyaline fibromatosis syndrome  - MedlinePlus Encyclopedia: Protein-losing enteropathy   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
What is (are) polycythemia vera ? 
 Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.  Polycythemia vera typically develops in adulthood, around age 60, although in rare cases it occurs in children and young adults. This condition may not cause any symptoms in its early stages. Some people with polycythemia vera experience headaches, dizziness, ringing in the ears (tinnitus), impaired vision, or itchy skin. Affected individuals frequently have reddened skin because of the extra red blood cells. Other complications of polycythemia vera include an enlarged spleen (splenomegaly), stomach ulcers, gout (a form of arthritis caused by a buildup of uric acid in the joints), heart disease, and cancer of blood-forming cells (leukemia).
How many people are affected by polycythemia vera ? 
 The prevalence of polycythemia vera varies worldwide. The condition affects an estimated 44 to 57 per 100,000 individuals in the United States. For unknown reasons, men develop polycythemia vera more frequently than women.
What are the genetic changes related to polycythemia vera ? 
 Mutations in the JAK2 and TET2 genes are associated with polycythemia vera. Although it remains unclear exactly what initiates polycythemia vera, researchers believe that it begins when mutations occur in the DNA of a hematopoietic stem cell. These stem cells are located in the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets. JAK2 gene mutations seem to be particularly important for the development of polycythemia vera, as nearly all affected individuals have a mutation in this gene. The JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells.  JAK2 gene mutations result in the production of a JAK2 protein that is constantly turned on (constitutively activated), which increases production of blood cells and prolongs their survival. With so many extra cells in the bloodstream, abnormal blood clots are more likely to form. Thicker blood also flows more slowly throughout the body, which prevents organs from receiving enough oxygen. Many of the signs and symptoms of polycythemia vera are related to a shortage of oxygen in body tissues.  The function of the TET2 gene is unknown. Although mutations in the TET2 gene have been found in approximately 16 percent of people with polycythemia vera, it is unclear what role these mutations play in the development of the condition.
Is polycythemia vera inherited ? 
 Most cases of polycythemia vera are not inherited. This condition is associated with genetic changes that are somatic, which means they are acquired during a person's lifetime and are present only in certain cells.  In rare instances, polycythemia vera has been found to run in families. In some of these families, the risk of developing polycythemia vera appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to increase the risk of developing polycythemia vera, although the cause of this condition in familial cases is unknown. In these families, people seem to inherit an increased risk of polycythemia vera, not the disease itself.
What are the treatments for polycythemia vera ? 
 These resources address the diagnosis or management of polycythemia vera:  - Genetic Testing Registry: Polycythemia vera  - MPN Research Foundation: Diagnosis  - MedlinePlus Encyclopedia: Polycythemia Vera   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
What is (are) autosomal recessive congenital methemoglobinemia ? 
 Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis).  There are two forms of autosomal recessive congenital methemoglobinemia: types I and II. People with type I have cyanosis from birth and may experience weakness or shortness of breath related to the shortage of oxygen in their tissues. People with type II have cyanosis as well as severe neurological problems. After a few months of apparently normal development, children with type II develop severe brain dysfunction (encephalopathy), uncontrolled muscle tensing (dystonia), and involuntary limb movements (choreoathetosis); also, the size of their head remains small and does not grow in proportion with their body (microcephaly). People with type II have severe intellectual disability; they can recognize faces and usually babble but speak no words. They can sit unassisted and grip objects but have impaired motor skills that leave them unable to walk. In type II, growth is often slowed. Abnormal facial muscle movements can interfere with swallowing, which can lead to feeding difficulties and further slow growth.  People with autosomal recessive congenital methemoglobinemia type I have a normal life expectancy, but people with type II often do not survive past early adulthood.
How many people are affected by autosomal recessive congenital methemoglobinemia ? 
 The incidence of autosomal recessive congenital methemoglobinemia is unknown.
What are the genetic changes related to autosomal recessive congenital methemoglobinemia ? 
 Autosomal recessive congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instruction for making an enzyme called cytochrome b5 reductase 3. This enzyme is involved in transferring negatively charged particles called electrons from one molecule to another. Two versions (isoforms) of this enzyme are produced from the CYB5R3 gene. The soluble isoform is present only in red blood cells, and the membrane-bound isoform is found in all other cell types.  Each hemoglobin molecule contains four iron atoms, which are needed to carry oxygen. In normal red blood cells, the iron in hemoglobin is ferrous (Fe2+), but it can spontaneously become ferric (Fe3+). When hemoglobin contains ferric iron, it is methemoglobin. The soluble isoform of cytochrome b5 reductase 3 changes ferric iron back to ferrous iron so hemoglobin can deliver oxygen to tissues. Normally, red blood cells contain less than 2 percent methemoglobin.  The membrane-bound isoform is widely used in the body. This isoform is necessary for many chemical reactions, including the breakdown and formation of fatty acids, the formation of cholesterol, and the breakdown of various molecules and drugs.  CYB5R3 gene mutations that cause autosomal recessive congenital methemoglobinemia type I typically reduce enzyme activity or stability. As a result, the enzyme cannot efficiently change ferric iron to ferrous iron, leading to a 10 to 50 percent increase in methemoglobin within red blood cells. This increase in methemoglobin and the corresponding decrease in normal hemoglobin reduces the amount of oxygen delivered to tissues. The altered enzyme activity affects only red blood cells because other cells can compensate for a decrease in enzyme activity, but red blood cells cannot.  Mutations that cause autosomal recessive congenital methemoglobinemia type II usually result in a complete loss of enzyme activity. Cells cannot compensate for a complete loss of this enzyme, which results in a 10 to 70 percent increase in methemoglobin within red blood cells. This increase in methemoglobin and the corresponding decrease in normal hemoglobin leads to cyanosis. The lack of enzyme activity in other cells leads to the neurological features associated with type II. Researchers suspect that the neurological problems are caused by impaired fatty acid and cholesterol formation, which reduces the production of a fatty substance called myelin. Myelin insulates nerve cells and promotes the rapid transmission of nerve impulses. This reduced ability to form myelin (hypomyelination) leads to a loss of nerve cells, particularly in the brain. The loss of these cells likely contributes to the encephalopathy and movement disorders characteristic of autosomal recessive congenital methemoglobinemia type II.
Is autosomal recessive congenital methemoglobinemia 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.
What are the treatments for autosomal recessive congenital methemoglobinemia ? 
 These resources address the diagnosis or management of autosomal recessive congenital methemoglobinemia:  - Genetic Testing Registry: METHEMOGLOBINEMIA, TYPE I  - Genetic Testing Registry: Methemoglobinemia type 2  - KidsHealth from Nemours: Blood Test: Hemoglobin  - MedlinePlus Encyclopedia: Hemoglobin  - MedlinePlus Encyclopedia: Methemoglobinemia   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
What is (are) hystrix-like ichthyosis with deafness ? 
 Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.  Newborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.
How many people are affected by hystrix-like ichthyosis with deafness ? 
 HID is a rare disorder. Its prevalence is unknown.
What are the genetic changes related to hystrix-like ichthyosis with deafness ? 
 HID is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules.  Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth and maturation of the outermost layer of skin (the epidermis).  At least one GJB2 gene mutation has been identified in people with HID. This mutation changes a single protein building block (amino acid) in connexin 26. The mutation is thought to result in channels that constantly leak ions, which impairs the health of the cells and increases cell death. Death of cells in the skin and the inner ear may underlie the signs and symptoms of HID.  Because the GJB2 gene mutation identified in people with HID also occurs in keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with similar features and the addition of eye abnormalities, many researchers categorize KID syndrome and HID as a single disorder, which they call KID/HID. It is not known why some people with this mutation have eye problems while others do not.
Is hystrix-like ichthyosis with deafness 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
What are the treatments for hystrix-like ichthyosis with deafness ? 
 These resources address the diagnosis or management of hystrix-like ichthyosis with deafness:  - Foundation for Ichthyosis and Related Skin Types: Ichthyosis Hystrix  - Genetic Testing Registry: Hystrix-like ichthyosis with deafness   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
What is (are) 48,XXYY syndrome ? 
 48,XXYY syndrome is a chromosomal condition that causes medical and behavioral problems in males.  48,XXYY disrupts male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. A shortage of testosterone during puberty can lead to reduced facial and body hair, poor muscle development, low energy levels, and an increased risk for breast enlargement (gynecomastia). Because their testes do not function normally, males with 48, XXYY syndrome have an inability to father children (infertility).  48,XXYY syndrome can affect other parts of the body as well. Males with 48,XXYY syndrome are often taller than other males their age. They tend to develop a tremor that typically starts in adolescence and worsens with age. Dental problems are frequently seen with this condition; they include delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth, and multiple cavities. As affected males get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. Peripheral vascular disease can cause skin ulcers to form. Affected males are also at risk for developing a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the legs. Additionally, males with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, allergies, asthma, type 2 diabetes, seizures, and congenital heart defects.  Most males with 48,XXYY syndrome have some degree of difficulty with speech and language development. Learning disabilities, especially reading problems, are very common in males with this disorder. Affected males seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Some boys with 48,XXYY syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Affected males have higher than average rates of behavioral disorders, such as attention deficit hyperactivity disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and/or autism spectrum disorders, which affect communication and social interaction.
How many people are affected by 48,XXYY syndrome ? 
 48,XXYY syndrome is estimated to affect 1 in 18,000 to 50,000 males.