Disease – Page 205 – CheckOrphan

TUBB4A-Related Leukodystrophy

TUBB4A-related leukodystrophy is a rare genetic disorder affecting the brain’s white matter, leading to a range of symptoms from hypomyelination (underdeveloped myelin) to degeneration. It is primarily caused by mutations in the TUBB4A gene and often results in motor and developmental delays due to a lack of myelin, which insulates nerve fibers. The severity varies, with some individuals experiencing severe forms like Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) presenting in early childhood, while others have milder, later-onset forms.

Tuberculosis

Tuberculosis (abbreviated as TB for tubercle bacillus or Tuberculosis) is a common and often deadly infectious disease caused by mycobacteria, mainly Mycobacterium tuberculosis. Tuberculosis usually attacks the lungs (as pulmonary TB) but can also affect the central nervous system, the lymphatic system, the circulatory system, the genitourinary system, the gastrointestinal system, bones, joints, and even the skin. Other mycobacteria such as Mycobacterium bovis, Mycobacterium africanum, Mycobacterium canetti, and Mycobacterium microti also cause tuberculosis, but these species are less common. The classic symptoms of tuberculosis are a chronic cough with blood-tinged sputum, fever, night sweats, and weight loss. Infection of other organs causes a wide range of symptoms. The diagnosis relies on radiology (commonly chest X-rays), a tuberculin skin test, blood tests, as well as microscopic examination and microbiological culture of bodily fluids. Tuberculosis treatment is difficult and requires long courses of multiple antibiotics. Contacts are also screened and treated if necessary. Antibiotic resistance is a growing problem in (extensively) multi-drug-resistant tuberculosis. Prevention relies on screening programs and vaccination, usually with Bacillus Calmette-Guérin (BCG vaccine). Tuberculosis is spread through the air, when people who have the disease cough, sneeze, or spit. One third of the world's current population has been infected with M. tuberculosis, and new infections occur at a rate of one per second. However, most of these cases will not develop the full-blown disease; asymptomatic, latent infection is most common. About one in ten of these latent infections will eventually progress to active disease, which, if left untreated, kills more than half of its victims. In 2004, mortality and morbidity statistics included 14.6 million chronic active cases, 8.9 million new cases, and 1.6 million deaths, mostly in developing countries. In addition, a rising number of people in the developed world are contracting tuberculosis because their immune systems are compromised by immunosuppressive drugs, substance abuse, or AIDS. The distribution of tuberculosis is not uniform across the globe with about 80% of the population in many Asian and African countries testing positive in tuberculin tests, while only 5-10% of the US population test positive. It is estimated that the US has 25,000 new cases of tuberculosis each year, 40% of which occur in immigrants from countries where tuberculosis is endemic.

Tuberculosis- pulmonary

Pulmonary tuberculosis (TB) is a contagious bacterial infection that mainly involves the lungs, but may spread to other organs.

Tuberculous meningitis

Tuberculous meningitis is also known as TB meningitis or tubercular meningitis. Tuberculous meningitis is Mycobacterium tuberculosis infection of the meninges—the system of membranes which envelops the central nervous system. It is the most common form of CNS tuberculosis.

Tuberculous uveitis

Eye infection by a tuberculous bacteria called Mycobacteriu tuberculosis. The eye infection may occur secondary to a tuberculous infection of the rest of the body or it may occur only in the eye.

Tuberous sclerosis

Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.

Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood.

Tuberous sclerosis complex often affects the brain, causing seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Benign brain tumors can also develop in people withtuberous sclerosis complex; these tumors can cause serious or life-threatening complications.

Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (theretina).

Tuberous sclerosis- type 1

A rare genetic disorder with a variety of abnormalities such as seizures, mental retardation, skin lesions and nodules in various body tissues and organs.

Tuberous sclerosis- type 2

A rare genetic condition characterized by mental and physical retardation, seizures and numerous benign tumors that can occur on the skin or in organs. The severity of symptoms can vary greatly depending on where the tumors occur.

Turner syndrome

Turner syndrome is a genetic disorder seen in girls that causes them to be shorter than others and to not mature sexually as they grow into adulthood. The severity of these problems varies among affected individuals. Other health problems may also be present involving the heart or renal system (i.e., kidneys). Many problems affecting girls with Turner syndrome can be managed or corrected with appropriate medical treatment. Turner syndrome occurs in one in 2,500 females born.

Turner-like syndrome

Twin-to-twin transfusion syndrome

Twin-to-twin transfusion syndrome (TTTS), also known as feto-fetal transfusion syndrome (FFTS) and twin oligohydramnios-polyhydramnios sequence (TOPS) is a complication of disproportionate blood supply, resulting in high morbidity and mortality. It can affect monochorionic multiples, that is, multiple pregnancies where two or more fetuses share a chorion and hence a single placenta. Severe TTTS has a 60–100% mortality rate.

Tylosis

A condition characterized by thickening of the skin on the palms of the hands and soles of the feet. The condition is associated with a risk of developing esophageal cancer which increases with age.

Type 2 Idiopathic Macular Telangiectasia

Macular telangiectasia also called as Idiopathic Juxtafoveal Macular Telangiectasia, is a poorly understood disease that is characterized by abnormalities of the tiny blood vessels around the fovea of the macula. Macular telangiectasia may occur as a result of a retinal vascular disease or a systemic disease such as diabetes or hypertension, but in many cases, clinical findings reveal no known cause. In these cases, the term “idiopathic” is used.

Continued advances in imaging technologies are allowing more to be discovered about this disease. Researchers now suspect that the disease is not nearly as rare as once thought, and it appears to have two distinct forms. The disease is now able to be divided into Type 1 macular telangiectasia and Type 2 macular telangiectasia.

Type 2 macular telangiectasia is also called idiopathic juxtafoveal telangiectasia or idiopathic perifoveal telangiectasia. Juxtafoveal or perifoveal refer to the abnormalities in the blood vessels near, or around, the fovea of the macula.

Typhoid fever

Typhoid fever,(also known simply as typhoid), is a bacterial infection due to Salmonella typhi that causes symptoms. Symptoms may vary from mild to severe and usually begin six to thirty days after exposure. Often there is a gradual onset of a high fever over several days. Weakness, abdominal pain, constipation, and headaches also commonly occur. Diarrhea is uncommon and vomiting is not usually severe. Some people develop a skin rash with rose colored spots. In severe cases there may be confusion.Without treatment symptoms may last weeks or months. Other people may carry the bacterium without being affected; however, they are still able to spread the disease to others. Typhoid fever is a type of enteric fever along with paratyphoid fever.

Typhus

Several different illnesses are called "typhus," all of them caused by one of the bacteria in the family Rickettsiae. Each illness occurs when the bacteria is passed to a human through contact with an infected insect.

Tyrosine transaminase deficiency

A rare condition where a deficiency of a liver enzyme (tyrosinase aminotransferase) causes tyrosine levels in the blood to increase and result in eye problems, mental retardation and horny skin lesions.

Tyrosine-oxidase temporary deficiency

Tyrosinemia type 1

Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.

Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life. Affected infants fail to gain weight and grow at the expected rate (failure to thrive) due to poor food tolerance because high-protein foods lead to diarrhea and vomiting. Affected infants may also have yellowing of the skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones (rickets), and an increased risk of liver cancer (hepatocellular carcinoma). Some affected children have repeated neurologic crises that consist of changes in mental state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal pain, and respiratory failure. These crises can last from 1 to 7 days. Untreated, children with tyrosinemia type I often do not survive past the age of 10.

Ubiquitin Disorder

Ubiquitin is a small regulatory protein that has been found in almost all tissues of eukaryotic organisms.

Ubiquitin disorder is a newly discovered condition in which the spent protein isn’t flushed from the neurological cells by the ubiquitin system. The protein becomes a tangled mass that blocks the signal from the brain to the muscles, eventually affecting the use of the limbs, swallowing, speech, breathing and other bodily functions requiring muscles.

There are many other diseases where the ubiquitin pathway has been implicated in the pathogenesis:

neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS), Parkinsons Disease, and Alzheimers Disease; Angelman Syndrome; Von Hippel-Lyndau Syndrome; Fanconi Anemia; and 3M Syndrome to name a few.

Uhl anomaly

A rare congenital heart malformation where the myocardial layer (muscle wall of the heart) of the right ventricle is completely or partially absent.

Ulcerative colitis

Ulcerative colitis (UC) is a form of inflammatory bowel disease (IBD) that causes inflammation and ulcers in the colon. The disease is a type of colitis, which is a group of diseases that cause inflammation of the colon, the largest section of the large intestine, either in segments or completely. The main symptom of active disease is diarrhea mixed with blood.

Ulcerative colitis newly occurs in 1 to 20 people per 100,000 per year, and about 8 to 246 per 100,000 individuals are affected. The disease is more common in northern regions of the world. Rates tend to be higher in wealthier countries, which may indicate the increased rate is due to better diagnosis. It may also indicate that an industrial or Western diet and lifestyle increases the rate of disease, including symptoms which may or may not be related to ulcerative colitere is a presumed genetic risk. The disease may be triggered in a susceptible person by environmental factors. Dietary modification may reduce the discomfort of a person with the disease. is. Ulcerative colitis can be debilitating and sometimes can lead to life-threatening complications. While it has no known cure, treatment can greatly reduce signs and symptoms of the disease and even bring about long-term remission.

Diseases