Diseases

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.

Ulerythema ophryogenesis

A rare genetic disorder involving a slowly spreading redness of the eyebrows and cheeks followed by damage to the skin and loss of eyebrows.

Ulnar-mammary syndrome

A rare genetic condition characterized by extra or missing digits, breast and dental abnormalities.

Uncombable hair syndrome

A syndrome which is characterised by an abnormality in the structure of hair resulting in it being uncombable.

Uniparental disomy

A syndrome which is characterised by an abnormality in the structure of hair resulting in it being uncombable

Urachal cyst

A cyst which occurs in the remnants between the umbilicus and bladder

Urinary tract neoplasm

A tumor that develops anywhere along the urinary tract. The urinary tract includes the kidneys, urethra and ureters. The tumor may be malignant or benign.

Urofacial syndrome

A very rare inherited disorder characterized by an unusual face and abnormalities in organs involved with urination.

Urogenital adysplasia

Urogenital adysplasia syndrome is a rare disorder characterized by anomalies of the kidneys, urinary tract, and/or reproductive system.

Urticaria pigmentosa

Urticaria pigmentosa (also known as "Generalized eruption of cutaneous mastocytosis (childhood type)") is the most common form of cutaneous mastocytosis. It is a rare disease caused by excessive numbers of mast cells in the skin that produce hives or lesions on the skin when irritated.

Usher syndrome

Usher syndrome is an inherited condition that causes 1) a serious hearing loss that is usually present at birth or shortly thereafter

Usher syndrome- type 1

A rare inherited disorder characterized by sensorineural deafness at birth or soon after and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood.