Diseases

Thalamic syndrome

Thalamic syndrome (or thalamic pain syndrome) is a condition that can be associated with inadequate blood supply from the posterior cerebral artery.Thalamic Syndrome (Dejerine-Roussy) is a rare neurological disorder in which the body becomes hypersensitive to pain as a result of damage to the thalamus, a part of the brain that affects sensation. The thalamus has been described as the brain’s sensory relay station. Primary symptoms are pain and loss of sensation, usually in the face, arms, and/or legs. Pain or discomfort may be felt after being mildly touched or even in the absence of a stimulus. The pain associated with thalamic syndrome may be made worse by exposure to heat or cold and by emotional distress. Sometimes, this may include even such emotions as those brought on by listening to music.

Thanatophoric dysplasia- type 1

Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.

Thanatophoric dysplasia- type 2

Thanatophoric dysplasia, type 2: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge

Thiamine responsive megaloblastic anemia syndrome

A rare genetic disorder characterized by megaloblastic anemia, hearing loss and diabetes. The condition is caused by a deficiency of a thiamine (vitamin B1) transporter protein which means that the body is unable to effectively utilize thiamine from the diet.

Thies Reis syndrome

A rare condition characterized by hearing loss caused by fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable). It can occur as a result of various bone diseases or even chronic ear infections

Thiolase deficiency

A rare syndrome involving a deficiency of an enzyme called thiolase which results in mental retardation and muscle problems.

Thiopurine S methyltranferase deficiency

Thiopurine methyltransferase or thiopurine S-methyltransferase (TPMT) is an enzyme (EC 2.1.1.67) that methylates thiopurine compounds. The methyl donor is S-adenosyl-L-methionine, which is converted to S-adenosyl-L-homocysteine. This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals. A pseudogene for this locus is located on chromosome 18q

Thomas syndrome

Another name for Dejerine-Sottas disease (or close medical condition association). An inherited, progressive, hypertrophic nervous system disorder which affects limb function

Thoracic celosomia

A rare malformation where the organs inside the chest protrude through an abnormal opening in the chest wall.

Thoracic Insufficiency Syndrome

Thoracic insufficiency syndrome may result from a primary chest wall problem and/or from scoliosis. This can become so significant at a young age that it can impact normal lung development and growth which can affect the function of the chest in moving air in and out of the lungs.

Thrombocytopenia Robin sequence

A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly.

Thrombocytopenia X-linked

A mild inherited form of thrombocytopenia which is a blood clotting disorder caused by a reduced number of normal blood platelets.

Thrombocytopenia- cyclic

Cyclic thrombocytopenia (medical condition): A rare disorder characterized by periodic fluctuations in blood platelet levels.

Thrombocytopenia-absent radius (TAR) syndrome

is a rare condition in which thrombocytopenia is associated with bilateral radial aplasia. TAR syndrome was first described in 1951. An autosomal recessive inheritance pattern was proposed because TAR affected more than one member of some families. In 1969, TAR was defined as a syndrome and further classified as the association of hypomegakaryocytic thrombocytopenia and absent radii. The expression varies and includes abnormalities in the GI, skeletal, hematologic, and cardiac systems. 

http://reference.medscape.com

Thrombomodulin anomalies- familial

A defect in a protein involved with anticoagulation which results in an increased risk of developing blood clots which can result in death.

Thrombotic thrombocytopenic purpura- acquired

Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body.

The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop.

The increased clotting that occurs in TTP also uses up platelets (PLATE-lets) in the blood. Platelets are blood cell fragments that help form blood clots. These cell fragments stick together to seal small cuts and breaks on blood vessel walls and stop bleeding.

With fewer platelets available in the blood, bleeding problems can occur. People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal.

"Thrombotic" (throm-BOT-ik) refers to the blood clots that form. "Thrombocytopenic" (throm-bo-cy-toe-PEE-nick) means the blood has a lower than normal number of platelets. "Purpura" (PURR-purr-ah) refers to purple bruises caused by bleeding under the skin.

Bleeding under the skin also can cause tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash.

TTP also can cause red blood cells to break apart faster than the body can replace them. This leads to hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh)—a rare form of anemia. Anemia is a condition in which the body has a lower than normal number of red blood cells.

A lack of activity in the ADAMTS13 enzyme (a type of protein in the blood) causes TTP. The ADAMTS13 gene controls the enzyme, which is involved in blood clotting. The enzyme breaks up a large protein called von Willebrand factor that clumps together with platelets to form blood clots.

Types of Thrombotic Thrombocytopenic Purpura

The two main types of TTP are inherited and acquired. "Inherited" means the condition is passed from parents to children through genes. This type of TTP mainly affects newborns and children.

In inherited TTP, the ADAMTS13 gene is faulty and doesn't prompt the body to make a normal ADAMTS13 enzyme. As a result, enzyme activity is lacking or changed.

Acquired TTP is the more common type of the disorder. "Acquired" means you aren't born with the disorder, but you develop it. This type of TTP mostly occurs in adults, but it can affect children.

In acquired TTP, the ADAMTS13 gene isn't faulty. Instead, the body makes antibodies (proteins) that block the activity of the ADAMTS13 enzyme.

It's not clear what triggers inherited and acquired TTP, but some factors may play a role. These factors may include:

  • Some diseases and conditions, such as pregnancy, cancer, HIV, lupus, and infections

  • Some medical procedures, such as surgery and blood and marrow stem cell transplant

  • Some medicines, such as chemotherapy, ticlopidine, clopidogrel, cyclosporine A, and hormone therapy and estrogens

  • Quinine, which is a substance often found in tonic water and nutritional health products