Diseases

Gitelman syndrome

Gitelman syndrome is a rare inherited defect in the distal convoluted tubule of the kidneys. It causes the kidneys to pass sodium, magnesium, chloride, and potassium into the urine, rather than allowing it to be resorbed into the bloodstream.

Glanders

Glanders is an infectious disease that is caused by the bacterium Burkholderia mallei. Glanders is primarily a disease affecting

Glanzmann Thrombasthenia

Glanzmann Thrombasthenia, or Thrombasthenia of Glanzmann and Naegeli is an extremely rare inherited disorder in which there is abnormal function of a component of the blood called the platelets, leading to abnormalities in blood clotting and increased bleeding.

Glanzmann’s Thrombasthemia

Glanzmann thrombasthenia is a genetic platelet disorder in which the platelet glycoprotein IIb/IIIa (GP IIb/IIIa) complex is either deficient or present but dysfunctional. The genes of both of these proteins are on chromosome 17, and 50% activity of each protein is enough to support normal platelet aggregation. Defects in the GP IIb/IIIa complex leads to defective platelet aggregation and subsequent bleeding.

Glanzmann thrombasthenia is rare and it is inherited in an autosomal recessive pattern. The disorder was first described by Dr. Eduard Glanzmann in 1918.

When an injury occurs, the GP IIb/IIIa receptors play an important role in the adherence of platelets to the endothelium as well as have a role in platelet aggregation.

The GP IIb/IIIa complex binds fibrinogen and/or von Willebrand factor (vWF). Adjacent platelets are cross-linked through GP IIb/IIIa–fibrinogen–GP IIb/IIIa complexes. When the GP IIb/IIIa complex functions abnormally, platelets cannot aggregate. This then leads to increased bleeding.

The GP IIb/IIIa complex is a heterodimer that requires calcium for GP IIb and GP IIIa to associate normally, and both GP IIb and GP IIIa are required for normal platelet function. A defect in either glycoprotein can lead to a bleeding disorder. However, platelet counts do not depend on GP IIb/IIIa, and, therefore, patients with defects in these glycoproteins have normal platelet counts. The morphology of the platelets on a peripheral smear is not unusual.

Glass Chapman Hockley syndrome

A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape

Glassy cell carcinoma of the cervix

Glassy cell carcinoma of the cervix, is a rare aggressive malignant tumour of the uterine cervix. The tumour gets its name from its microscopic appearance; its cytoplasm has a glass-like appearance.

Glaucoma sleep apnea

A rare syndrome characterized by the association of sleep apnea with glaucoma.

Glaucoma type 1C

A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 3q212-q24.

Glaucoma- congenital

There are various forms of congenital glaucoma. Some arise in the context of other abnormalities (e.g. Reiger's syndrome, Sturge-Weber syndrome and neurofibromatosis) but the commonest type of infantile glaucoma is in fact primary congenital glaucoma. In 90% of cases, this is sporadic and in the remaining 10% of cases, there is an autosomal dominant pattern of inheritance

Glaucoma- hereditary

An inherited form of glaucoma - includes congenital glaucoma, juvenile glaucoma and adult open-angle glaucoma.

Glioblastoma

Glioblastoma, also known as glioblastoma multiforme (GBM) and grade IV astrocytoma, is the most common and most aggressive cancer that begins within the brain. Signs and symptoms are initially non-specific. They may include headaches, personality changes, nausea, and symptoms similar to that of a stroke. Worsening of symptoms is often rapid. This can progress to unconsciousness.

The cause of most cases is unclear. Uncommon risk factors include genetic disorders such as neurofibromatosis and Li Fraumeni syndrome and previous radiation therapy. Glioblastomas represent 15% of brain tumors. They can either start from normal brain cells or develop from an already existing low-grade astrocytoma. The diagnosis is typically made by a combination of CT scan, MRI scan, and tissue biopsy.

There is no clear way to prevent the disease. Typically treatment involves surgery after which chemotherapy and radiation therapy is used. The medication temozolomide is frequently used as part of chemotherapy. High dose steroids may be used to help reduce swelling and decrease symptoms. It is unclear if trying to remove all or simply most of the cancer is better.

Despite maximum treatment, the cancer usually recurs. The most common length of survival following diagnosis is 12 to 15 months with less than 3% to 5% of people surviving greater than five years. Without treatment survival is typically 3 months. About 3 per 100,000 people develop the disease a year. It most often begins around 64 years of age and occurs more commonly in males than females. Immunotherapy is being studied in glioblastoma with promising results.

 

Glioblastoma multiforme

Glioblastoma multiforme (GBM), is the most common and most aggressive malignant primary brain tumor. It involves glial cells and accounting for 52% of all brain tissue tumor cases and 20% of all tumors inside the skull. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. There is currently no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy.

Glioma

Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor:

  • Astocytoma - tumors that develop from star-shaped glial cells called astrocytes
  • Ependymomas - tumors that arise from ependymal cells that line the ventricles of the brain and the center of the spinal cord
  • Oligodendrogliomas - tumors that affect the oligodendrocytes

Gliomas can affect your brain function and be life-threatening depending on their location and rate of growth. Gliomas are one of the most common types of primary brain tumors.
The type of glioma you have helps determine your treatment and your prognosis. In general, glioma treatment options include surgery, radiation therapy, chemotherapy, targeted therapy.

Gliomatosis cerebri

Gliomatosis cerebri (infiltrative diffuse astrocytosis) is a rare primary brain tumor. It is commonly characterized by diffuse infiltration of the brain with neoplastic glial cells that affect various areas of the cerebral lobes

Gliosarcoma

Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malignant cancer, and is defined as a glioblastoma consisting of gliomatous and sarcomatous components. It is estimated that approximately 2.1% of all glioblastomas are gliosarcomas. Although most gliomas rarely show metastases outside the cerebrum, gliosarcomas have a propensity to do so, most commonly spreading through the blood to the lungs, and also liver and lymph nodes.

Global disaccharide intolerance

an inherited disorder due to a defect in the degradation of lysine, characterized by vomiting, rigidity, and coma, and high levels of ammonia, lysine, and arginine in the blood.

Glomerulonephritis

Glomerulonephritis, is a term used to refer to several kidney diseases (usually affecting both kidneys). Many of the diseases are characterised by inflammation either of the glomeruli or small blood vessels in the kidneys, hence the name, but not all diseases necessarily have an inflammatory component.

As it is not strictly a single disease, its presentation depends on the specific disease entity: it may present with isolated hematuria and/or proteinuria (blood or protein in the urine); or as a nephrotic syndrome, a nephritic syndrome, acute kidney injury, or chronic kidney disease.

Glomus tympanicum

Glomus tympanicum: A rare, usually benign tumor found behind the ear drum. The tumor develops from glomus cells which are located along blood vessels involved in automatic body activities such as regulation of blood pressure and blood flow.

Glomus vagale tumors

Glomus vagale tumors: A rare, usually benign tumor that tends to occur mainly in the skin and soft tissues of lower parts of limbs and under the nails but may also rarely occur in other parts of the body including organs. Symptoms depend on the location, size and malignancy of the tumor.

Glomuvenous malformation

Glomuvenous malformation (GVM), also known as "multiple glomus tumors" or "glomangioma", is a localized bluish-purple cutaneous vascular lesion, histologically consisting of distended venous channels with flattened endothelium surrounded by variable number of maldifferentiated smooth muscle-like "glomus cells" in the wall. GVM account for 5% of venous anomalies referred to centers for vascular anomalies.

Source: Atlas of Genetics and Cytogenetics in Oncology and Haematology

Gloomy face syndrome

Gloomy face syndrome: A rare genetic disorder characterized primarily by dwarfism and a gloomy facial appearance.