Systemic mastocytosis – Genetics Home Reference

Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.

Signs and symptoms of systemic mastocytosis often include extreme tiredness (fatigue), skin redness and warmth (flushing), nausea, abdominal pain, bloating, diarrhea, the backflow of stomach acids into the esophagus (), nasal congestion, shortness of breath, low blood pressure (hypotension), lightheadedness, and headache. Some affected individuals have attention or memory problems, anxiety, or depression. Many individuals with systemic mastocytosis develop a skin condition called urticaria pigmentosa, which is characterized by raised patches of brownish skin that sting or itch with contact or changes in temperature. Nearly half of individuals with systemic mastocytosis will experience severe allergic reactions (anaphylaxis).

There are five subtypes of systemic mastocytosis, which are differentiated by their severity and the signs and symptoms. The mildest forms of systemic mastocytosis are the indolent and smoldering types. Individuals with these types tend to have only the general signs and symptoms of systemic mastocytosis described above. Individuals with smoldering mastocytosis may have more organs affected and more severe features than those with indolent mastocytosis. The indolent type is the most common type of systemic mastocytosis.

The severe types include aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia. These types are associated with a reduced life span, which varies among the types and affected individuals. In addition to the general signs and symptoms of systemic mastocytosis, these types typically involve impaired function of an organ, such as the , . The organ dysfunction can result in an abnormal buildup of fluid in the abdominal cavity (ascites). Aggressive systemic mastocytosis is associated with a loss of bone tissue (osteoporosis and osteopenia) and multiple bone fractures. Systemic mastocytosis with an associated hematologic neoplasm and mast cell leukemia both involve blood cell disorders or blood cell cancer (). Mast cell leukemia is the rarest and most severe type of systemic mastocytosis.

Individuals with the milder forms of the condition generally have a normal or near normal life expectancy, while those with the more severe forms typically survive months or a few years after diagnosis.

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Rosacea – Genetics Home Reference

The causes of rosacea are complex and not well understood. Both genetic and environmental factors appear to influence the disorder, although many of these factors have not been identified.

Studies suggest that rosacea is associated with abnormalities of blood vessels (the vascular system) and the immune system. In people with this condition, blood vessels expand (dilate) too easily, which can cause redness and flushing of the skin. Rosacea is also associated with abnormal inflammation. Inflammation is a normal immune system response to injury and foreign invaders, such as bacteria. Abnormal inflammation impairs the skin’s ability to act as a protective barrier for the body. Researchers believe that a combination of blood vessel abnormalities, abnormal inflammation, and a disruption of the skin barrier underlie the signs and symptoms of rosacea.

Among the genes thought to play roles in rosacea are several genes in a family called the . The HLA complex helps the immune system distinguish the body’s own proteins from proteins made by foreign invaders. Each HLA gene has many different variations, allowing each person’s immune system to react to a wide range of foreign proteins. Certain variations in HLA genes likely contribute to the abnormal inflammation that is characteristic of rosacea.

Another group of genes that appear to be involved in the development of rosacea are glutathione S-transferases (GSTs). The proteins produced from these genes help protect cells from oxidative stress. Oxidative stress occurs when unstable molecules called reactive oxygen species (ROS) accumulate to levels that can damage or kill cells. Variants in several GST genes have been associated with an increased risk of developing rosacea. Researchers suspect that these variants reduce the ability of GSTs to protect skin cells from oxidative stress, leading to cell damage and inflammation.

Environmental (nongenetic) factors can also increase the risk of developing rosacea and trigger its symptoms. Among the best-studied risk factors for rosacea is exposure to ultraviolet (UV) radiation from the sun. UV radiation causes oxidative stress that can damage skin cells. Studies suggest that having an overgrowth of certain microorganisms that live on facial skin, particularly mites called Demodex folliculorum, may also contribute to the development of rosacea. These mites stimulate an abnormal immune response and disrupt the normal skin barrier. Other factors that can trigger the signs and symptoms of rosacea or make them worse include heat exposure, spicy food, cigarette smoking, and alcohol, all of which cause blood vessels in the skin to dilate.

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Obsessive-compulsive disorder – Genetics Home Reference

Obsessive-compulsive disorder (OCD) is a mental health condition characterized by features called obsessions and compulsions. Obsessions are intrusive thoughts, mental images, or urges to perform specific actions. While the particular obsessions vary widely, they often include fear of illness or contamination; a desire for symmetry or getting things “just right;” or intrusive thoughts involving religion, sex, or aggression. Compulsions consist of the repetitive performance of certain actions, such as checking or verifying, washing, counting, arranging, acting out specific routines, or seeking assurance. These behaviors are performed to relieve anxiety, rather than to seek pleasure as in other compulsive behaviors like gambling, eating, or sex.

While almost everyone experiences obsessive feelings and compulsive behaviors occasionally or in particular contexts, in OCD they take up more than an hour a day and cause problems with work, school, or social life. People with OCD generally experience anxiety and other distress around their need to accommodate their obsessions or compulsions.

About half the time, OCD becomes evident in childhood or adolescence, and most other cases appear in early adulthood. It is unusual for OCD to start after age 40. It tends to appear earlier in males, but by adulthood it is slightly more common in females. Affected individuals can experience periods when their symptoms increase or decrease in severity, but the condition usually does not go away completely.

Some people with OCD have additional mental health disorders such as generalized anxiety, depression, phobias, panic disorders, or schizophrenia. OCD can also occur in people with other neurological conditions such as Tourette syndrome and similar disorders, traumatic brain injury, stroke, or dementia.

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Farsightedness – Genetics Home Reference

Farsightedness, also known as hyperopia, is an eye condition that causes blurry near vision. People who are farsighted have more trouble seeing things that are close up (such as when reading or using a computer) than things that are far away (such as when driving).

For normal vision, light passes through the clear cornea at the front of the and is focused by the lens onto the surface of the , which is the lining of the back of the eye that contains light-sensing cells. Some people who are farsighted have eyeballs that are too short from front to back. Others have a cornea or lens that is abnormally shaped. These changes cause light entering the eye to be focused too far back, behind the retina instead of on its surface. It is this difference that causes nearby objects to appear blurry. In a person with this condition, one eye may be more farsighted than the other.

If it is not treated with corrective lenses or surgery, farsightedness can lead to eye strain, excess tearing, squinting, frequent blinking, headaches, difficulty reading, and problems with hand-eye coordination. However, some children with the eye changes characteristic of farsightedness do not notice any blurring of their vision or related signs and symptoms early in life. Other parts of the visual system are able to compensate, at least temporarily, for the changes that would otherwise cause light to be focused in the wrong place.

Most infants are born with a mild degree of farsightedness, which goes away on its own as the eyes grow. In some children, farsightedness persists or is more severe. Children with a severe degree of farsightedness, described as high hyperopia, are at an increased risk of developing other eye conditions, particularly “lazy eye” (amblyopia) and eyes that do not look in the same direction (strabismus). These conditions can cause significant visual impairment.

In general, older adults also have difficulty seeing things close up; this condition is known as Presbyopia and develops as the lens of the eye becomes thicker and less flexible with age and the muscles surrounding the lens weaken. Although it is sometimes described as “farsightedness,” presbyopia is caused by a different mechanism than hyperopia and is considered a separate condition.

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Lyme disease – Genetics Home Reference

Lyme disease is an infectious disease caused by Borrelia burgdorferi bacteria. The bacteria are transferred to humans by tick bite, specifically by blacklegged ticks (commonly known as deer ticks). The condition is named for the location in which it was first described, the town of Lyme, Connecticut.

If not treated with antibiotics, Lyme disease follows three stages: early localized, early disseminated, and late disseminated infection. A small percentage of individuals have symptoms that persist months or years after treatment, which is called post-treatment Lyme disease syndrome.

A characteristic feature of Lyme disease, and the key feature of early localized infection, is a slowly expanding red rash on the skin (called erythema migrans) at the site of the tick bite; the rash is often bull’s-eye shaped. Flu-like symptoms and enlarged lymph nodes (lymphadenopathy) are also early signs of infection. Most people who are treated at this stage never develop further symptoms.

The early disseminated stage of Lyme disease occurs as the bacteria is carried throughout the body in the bloodstream. This stage occurs a few weeks after the tick bite. Signs and symptoms can include additional rashes on other parts of the body, flu-like symptoms, and lymphadenopathy. Some affected individuals develop neurologic problems (referred to as neuroborreliosis), such as paralyzed muscles in the face (facial palsy); pain, numbness, or weakness in the hands or feet; difficulty concentrating; or memory problems. Rarely, the heart is affected (Lyme carditis), causing a sensation of fluttering or pounding in the chest (palpitations) or an irregular heartbeat.

The late disseminated stage of Lyme disease can occur months to years after the tick bite. The most common feature of this stage, Lyme arthritis, is characterized by episodes of joint pain and swelling, usually affecting the knees. In rare cases, the late disseminated stage also involves neurological problems.

Individuals with post-treatment Lyme disease syndrome report ongoing exhaustion (fatigue), muscle and joint achiness, headache, or difficulty concentrating even after treatment with antibiotics, when there is no evidence of the bacteria in the body. Very rarely, individuals have joint pain and swelling for months or years after successful antibiotic treatment. This complication is called antibiotic-refractory Lyme arthritis.

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Spastic paraplegia type 49 – Genetics Home Reference

Spastic paraplegia type 49 is part 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). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and other problems with the nervous system. Spastic paraplegia type 49 is a complex hereditary spastic paraplegia.

Spastic paraplegia type 49 often begins with weak muscle tone (hypotonia) that starts in infancy. During childhood, spasticity and paraplegia develop and gradually worsen, causing difficulty walking and frequent falls. In addition, affected individuals have moderate to severe intellectual disability and distinctive physical features, including short stature; chubbiness; an unusually small head size (); a wide, short skull (); a short, ; and . Some people with spastic paraplegia type 49 develop seizures.

Problems with autonomic nerve cells (autonomic ), which control involuntary body functions such as heart rate, digestion, and breathing, result in several features of spastic paraplegia type 49. Affected individuals have difficulty feeding beginning in infancy. They experience a backflow of stomach acids into the esophagus (called or GERD), causing vomiting. GERD can also lead to recurrent bacterial lung infections called aspiration pneumonia, which can be life-threatening. In addition, people with spastic paraplegia type 49 have problems regulating their breathing, resulting in pauses in breathing (apnea), initially while sleeping but eventually also while awake. Their blood pressure, pulse rate, and body temperature are also irregular.

People with spastic paraplegia type 49 can develop recurrent episodes of severe weakness, hypotonia, and abnormal breathing, which can be life threatening. By early adulthood, some affected individuals need a machine to help them breathe (mechanical ventilation).

Other signs and symptoms of spastic paraplegia type 49 reflect problems with sensory neurons, which transmit information about sensations such as pain, temperature, and touch to the brain. Many affected individuals are less able to feel pain or temperature sensations than individuals in the general population. Affected individuals also have abnormal or absent reflexes (areflexia).

Because of the nervous system abnormalities that occur in spastic paraplegia type 49, it has been suggested that the condition also be classified as a hereditary sensory and autonomic neuropathy, which is a group of conditions that affect sensory and autonomic neurons.

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Alopecia areata – Genetics Home Reference

The causes of alopecia areata are complex and not well understood. A combination of factors likely underlies the disorder, including changes in many genes that function in the hair and skin and in the immune system.

Alopecia areata is one of a large group of immune system diseases classified as autoimmune disorders. Normally, the immune system protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body. In autoimmune disorders, the immune system malfunctions and attacks the body’s own tissues instead. For reasons that are unclear, in alopecia areata the immune system targets hair follicles, stopping hair growth. However, the condition does not permanently damage the follicles, which is why hair may later regrow.

Many of the genes that have been associated with alopecia areata participate in the body’s immune response. These include several genes belonging to a gene family called the . The HLA complex helps the immune system distinguish the body’s own proteins from proteins made by foreign invaders. Each HLA gene has many different variations, allowing each person’s immune system to react to a wide range of foreign proteins. Certain variations in HLA genes likely contribute to the inappropriate immune response targeting hair follicles that leads to alopecia areata. Immune system genes outside the HLA complex, such as several genes involved in inflammation, have also been associated with alopecia areata.

Some of the genetic variations associated with alopecia areata have been identified in people with other autoimmune disorders, which suggests that this group of diseases may share some genetic risk factors. People with alopecia areata have an increased risk of developing other autoimmune disorders, including vitiligo, systemic lupus erythematosus, atopic dermatitis, allergic asthma, and autoimmune thyroid diseases (such as Hashimoto thyroiditis and Graves disease). Similarly, people with those autoimmune disorders have an increased risk of developing alopecia areata.

In many cases, it is unknown what triggers hair loss in people with alopecia areata. It is possible that environmental factors, such as emotional stress, physical injury, or illness, provoke an abnormal immune response in people who are at risk. However, in most affected people, the onset of hair loss has no clear explanation.

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Genes linked with sunburn, skin cancer risk

May 8, 2018

Certain genes can determine which people are more at risk of getting sunburn and possibly develop skin cancer as a result..

In a trawl of the genetics of nearly 180,000 people of European ancestry in Britain, Australia, the Netherlands and United States, researchers found 20 sunburn genes.

Eight of the genes had been associated with skin cancer in previous research, according to findings published in the journal Nature Communications.

And in at least one region of the genome, “we have found evidence to suggest that the gene involved in melanoma risk… acts through increasing susceptibility to sunburns,” co-author Mario Falchi of King’s College London told AFP.

Sun exposure is critical for the body’s production of vitamin D, which keeps bones, teeth, and muscles healthy, and which scientists say may help stave off chronic diseases, even cancer.

But too much can be painful in the short-term, and dangerous for your health.

The new study, which claims to be the largest to date into the genetics of sunburn, helps explain why people with the same skin tone can have such different reactions to exposure to sunlight—some burn red while others tan brown.

It may also begin to explain factors in skin cancer risk.
“It is necessary to explore these genes in more detail, to understand the mechanism by which they contribute to propensity to burn,” said Falchi.

In future, the research may help identify people at risk, through genetic testing.

“People tend to ‘forget’ that sunburns are quite dangerous,” said Falchi.

“Given the rise in incidence in skin cancer, we hope that knowing there is a genetic link between sunburn and skin cancer may help in encouraging people to lead a healthy lifestyle.”

More information: Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure, Nature Communications (2018). nature.com/articles/doi:10.1038/s41467-018-04086-y
Journal reference: Nature Communications

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Genetic Testing for Breast Cancer – Mayo Clinic

It could be your mom, sister, aunt or best friend. One out of 8 women will get breast cancer in her lifetime. A small subset of the women who get diagnosed have inherited an abnormal copy of a gene that runs in families and can greatly increase their risk of certain cancers. One question these women and their families face is, “Should I get tested to find out if I have a genetic risk?” The answer is always a very personal one.

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