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"At birth, the signs and symptoms of Maffucci syndrome can be detectable at birth, but in general, they do not become apparent until about the age of 5. People with Maffucci syndrome have short stature and underdeveloped muscles as a result of their bone deformities associated with Maffucci syndrome. Maffucci syndrome is distinguished from a similar disorder involving enchondromas by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels, which are distinguishable from a similar disorder that involves enchondromas. Individuals with Maffucci syndrome also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid in addition to hemangiomas. Although Maffucci syndrome's enchondromas start out as normal, they can also become cancerous. People with Maffucci syndrome are also at a higher risk of other cancers, such as ovarian or liver cancer, among other ailments. People with Maffucci syndrome have a normal life, and intelligence is unaffected. ".
"Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. " Since humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. Hereditary hemochromatosis is also known as an iron overload disorder for this reason. Both men with type 1 or type 4 hemochromatosis have symptoms between the ages of 40 and 60, and women usually experience symptoms after menopause. Iron accumulation, which leads to reduced or absent revelation of sex hormones by age 20, has decreased or absent evidence. Females usually start menstruation regularly, but males stop after a few years. If type 2 hemochromatosis is untreated, a potentially lethal heart disease called type 2 hemochromatosis is present by age 30. Type 3 hemochromatosis is generally intermediate between types 1 and 2, with symptoms generally beginning before age 30.
Infants in the first weeks of life experience liver disease that quickly progresses to liver disease. " Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome usually live only into infancy or early childhood. The Navajo people of the southwestern United States are the most prevalent of the hepatocerebral DNA depletion syndrome, according to MPV17 –related hepatocerebral DNA depletion syndrome. People with Navajo neurohepatopathy have a longer life expectancy than those with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Navajo neurohepatitis patients may have problems with sensing pain that can lead to painless bone fractures and self-mutilation of the fingers or toes, as well as hand or toes. Individuals with Navajo neurohepatitis may have trouble seeing in the eye's clear front covering, resulting in open sores and scarring on the cornea, resulting in impaired vision. ".
"Alpha-1 antitrypsin deficiency is a genetic disease that may cause lung disease and liver disease. " People with alpha-1 antitrypsin deficiency are among the first signs and symptoms of lung disease in people aged 25 to 50. The appearance of emphysema signs and lung damage can be exacerbated by smoking or exposure to nicotine smoke. About 10% of infants with alpha-1 antitrypsin deficiency have liver disease, which can cause yellowing of the skin and whites of the eyes. Approximately 15% of adults with alpha-1 antitrypsin deficiency have liver disease as a result of scar tissue in the liver. Individuals with alpha-1 antitrypsin deficiency are also at risk of developing hepatocellular carcinoma, a form of liver cancer. People with alpha-1 antitrypsin deficiency have unusual skin disease called panniculitis, which is characterized by hardened skin with painful lumps or patches. ".
"Ollier disease is a disorder that is characterized by multiple enchondromas, which are noncancerous growths of cartilage that develop within the bone. " The signs and symptoms of Ollier disease may be present at birth, but the majority do not appear until about age 5. People with Ollier disease have short stature and underdeveloped muscles as a result of their bone deformities, resulting in short stature and underdeveloped muscles. Although the enchondromas associated with Ollier disease start out as normal, they can become cancerous. People with Ollier disease are also at an elevated risk of other cancers, such as ovarian cancer or liver cancer. People with Ollier disease have a normal lifespan, and intelligence is unaffected. Multiple enchondromas may also be present in Maffucci syndrome, but is distinguished by the presence of red or purplish tufts of abnormal blood vessels in the skin, which are also characterized by tangles of abnormal blood vessels. ".
"African iron overload is a disorder that results from absorption of too much iron from the diet. " Iron levels in the body are mainly controlled by monitoring how much iron is absorbed from the diet. African iron overload is a result of a diet high in iron. Extra iron commonly accumulates in African iron overload, particularly in certain immune cells called reticuloendothelial cells. This pattern differs from that seen in a related iron overload disorder called hereditary hemochromatosis, in which the excess iron buildups predominantly in the hepatocytes. When too much iron is absorbed, the resulting iron overload can cause tissue and organ damage. Chronic liver disease can be a result of iron deficiency in the liver. Cirrhosis raises the risk of developing hepatocellular carcinoma, a form of liver cancer. Iron overload in immune cells can impair an individual's ability to fight infections. African iron overload has been attributed to an elevated risk of contracting tuberculosis. Vitamin C deficiency disorders such as scurvy can also result in a faster-than-normal breakdown of vitamin C in the body, so affected individuals are at a higher risk of vitamin C deficiency problems such as scurvy. People with African iron overload may have a modestly low number of red blood cells, perhaps because the iron that builds in the liver, bone marrow, and spleen is less suitable for red blood cell production. Ferritin stores and releases iron in cells, and cells produce more ferritin in reaction to elevated amounts of iron. ".
"Beckwith-Wiedemann syndrome is a disorder that affects several areas of the body. " Specific body parts may grow abnormally large on one side of the body in children with Beckwith-Wiedemann syndrome, resulting in an asymmetric or uneven appearance. Beckwith-Wiedemann syndrome can have various signs and symptoms. Some children with this condition are born with an opening in the wall of the abdomen that allows the abdominal organs to protrude through the abdomen. Some infants with Beckwith-Wiedemann syndrome have an abnormally long tongue, which may cause difficulty with breathing, swallowing, and speaking. Children with Beckwith-Wiedemann syndrome are at an increased risk of developing many types of cancerous and noncancerous tumors, including a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. The majority of children and adults with Beckwith-Wiedemann syndrome have no medical problems associated with the condition.
"Anon-alcoholic fatty liver disease is a buildup of excess fat in the liver that can lead to liver damage similar to alcohol use, but it occurs in people who do not drink heavily. " The liver usually contains some fat; an individual is considered to have a fatty liver if the liver contains more than 5 to 10% fat. The fat deposits in the liver associated with NAFLD rarely cause no symptoms, but they can result in elevated levels of liver enzymes that are not present in routine blood tests. People with NAFLD have inflammation of the liver, which may result in liver damage. Between 7 and 30 percent of people with NAFLD have liver inflammation, which causes liver damage. However, severe or long-term injury can cause liver tissue to be replaced by scar tissue, resulting in irreversible liver disease that causes the liver to stop functioning properly. Swollen blood vessels within the digestive system can result in increased pressure in the vein that transports blood into the liver from other digestive organs. Many cases of cirrhosis with no apparent cause are reported by NAFLD and NASH, with at least one-third of people with NASH displaying cirrhosis. However, a person with NAFLD may not have any or any of the other disorders that cause the metabolic syndrome, and people with any or both of those conditions do not have NAFLD. ".
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