Diseases

Gamma-cystathionase deficiency

A rare metabolic defect where a buildup of cystathionine in the body is due to an enzyme deficiency (cystathionine gamma-lyase) which normally converts methionine into cysteine. The condition is usually asymptomatic

Gamstorp episodic adynamy

A rare inherited genetic condition characterized by temporary periods of severe muscle weakness. The condition tends to be more severe in males and can be triggered by stress, fasting, rest after exercise and eating foods high in potassium.

Ganglioglioma

Ganglioglioma or gangliocytoma refers a tumour that arises from ganglion cells in the central nervous system. While they are most well known as occurring in the temporal lobe of the brain, they can occur anywhere in the brain, or in the spinal cord. Gangliogliomas in the brain are often associated with seizures.

Gangliosidosis generalized GM1- type 1

A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III. Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (β-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. 

Individuals with GM1 gangliosidosis type I usually do not survive past early childhood.

Gangliosidosis GM1 type 3

A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.

Gangliosidosis- generalized GM1 type 2

GM1-gangliosidosis type II is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the 'late-infantile' form, whereas those with slightly later onset and survival into late childhood are referred to as having the 'juvenile' form

GAPO syndrome

GAPO syndrome is a rare genetic disorder. GAPO is an acronym for growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy.

Gardner syndrome

Gardner's syndrome is a genetic disorder characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts. The countless polyps in the colon predispose to the development of colon cancer.

Gardner-Diamond Syndrome

Gardner-Diamond Syndrome is a rare inherited disorder characterized by bruises which form readily, tend to spread and are painful, often associated with physical or psychosocial stress. It most commonly affects women and has been described in children and adolescents.

This illness represents a type of chronic unexplained medical symptom where patients present with real, sometimes bewildering, medical signs and symptoms.

Garret Tripp syndrome

A rare syndrome characterized mainly by extra digits, a lack of hair and scaly skin on the scalp, face and neck.

Gas bloat syndrome

Excessive production of gas in the gastrointestinal system which causes bloating. Causes can include gastrointestinal infection, excessive gulping of air, altered diet and malabsorption disorders. More detailed information about the symptoms, causes, and treatments of Gas/bloat syndrome is available below. Top

Gastric lymphoma

Primary gastric lymphoma (lymphoma that originates in the stomach itself) is an uncommon condition, accounting for less than 15% of gastric malignancies and about 2% of all lymphomas. However, the stomach is a very common extranodal site for lymphomas (lymphomas originating somewhere else with metastasis to stomach). It is also the most common source of lymphomas in the gastrointestinal tract

Gastrinomas

Gastrinomas are a type of pancreatic endocrine tumor that arises from islet cells but can also arise from the gastrin-producing cells in duodenum and other sites in the body. Gastrinomas occur in the pancreas or duodenal wall 80 to 90% of the time. The remainder occur in the splenic hilum, mesentery, stomach, lymph node, or ovary. About 50% of patients have multiple tumors.

Gastrinomas usually are small (< 1 cm in diameter) and grow slowly. About 50% are malignant.

About 40 to 60% of patients with gastrinoma have multiple endocrine neoplasia, a syndrome that is associated with neuroendocrine tumors of the pancreas (eg, gastrinoma), pituitary adenomas, and parathyroid hyperplasia.

 

Gastro-enteropancreatic neuroendocrine tumor

A rare form of gastrointestinal tumor. It includes two main groups of cancer called carcinoid and endocrine pancreatic tumors. Some of the tumors consist of hormone secreting cells which results in excessive secretion of certain hormones

Gastrocutaneous syndrome

A arare inherited disorder characterized by peptic ulcers, hiatus hernia, eye abnormalities and skin pigmentation.

Gastroenteropancreatic neuroendocrine tumors

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are relatively rare and complex neoplasms that present many clinical challenges. Most GEP-NETs are sporadic, but they can be multiple and a component of a familial syndrome. Assessment of the location and extent of GEP-NETs is crucial for management and a number of novel imaging modalities are under evaluation with the principal goal of increasing sensitivity for the detection of micro-metastases while retaining specificity. The appropriate diagnosis and treatment of neuroendocrine tumors often involves collaboration between specialists in multiple disciplines, using specific biochemical, radiologic, and surgical methods. Management strategies include surgery, radiological intervention, cytotoxic chemotherapies, somatostatin analogs and novel biological agents such as sunitinib and everolimus. Other biological agents, new chemoteraphy regimens and somatostatin-tagged radionuclide therapies are also under investigation. In spite of this, comparison between therapeutic modalities is currently difficult. Further studies are warranted to individualize and optimize the diagnosis and treatment of these tumors.

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs), also known as carcinoids and islet cell tumors, are tumors derived from neuroendocrine cells that can occur anywhere along the gastrointestinal tract and comprise a heterogeneous family of neoplasms with a wide and complex spectrum of clinical behavior. These tumors have been considered rare diseases, although the most recent data from the US Surveillance Epidemiology and End Results show an impressive increase of more than 400% in the incidence of this disease over a period of 29 years, rising from 1.09 per 100,000 population in 1973 to 5.25 per 100,000 population in 2004. GEP-NETs are more prevalent than many other tumors of the gastrointestinal tract, including stomach and pancreatic carcinomas combined. Age at diagnosis is generally younger than for carcinomas (5th decade) and they may arise sporadically or as a result of hereditary predisposition syndromes such as multiple endocrine neoplasia type 1, Von Hippel-Lindau’s disease or neurofibromatosis type 1.

GEP-NETs have traditionally been divided into foregut (esophagus, stomach, proximal duodenum, liver and pancreas), midgut (distal duodenum ileum, jejunum, ascending colon and proximal two thirds of transverse colon) and hindgut tumors (distal third of transverse colon, descending colon, sigmoid colon and rectum).

Survival of patients with GEP-NETs depends on stage and histology. Patients with well- and moderately-differentiated distant metastases have a 5-year survival probability of 35%; conversely, in patients with poorly-differentiated distant metastases, the 5-year survival probability drops to only 4%.

Treatment has two objectives: 1) remove the tumor, or, alternatively, reduce or stop the growth and spread of it; and 2) relieve symptoms of excessive hormone production.

Gastroesophageal Adenocarcinoma

Gastroesophageal junction adenocarcinoma is a rare type of cancer of the esophagus, the tube that connects your mouth and stomach. It starts in the gastroesophageal (GE) junction, the area where the esophagus and stomach join together. The cancer grows from cells that make mucus.

GE junction cancer is similar to other cancers of the esophagus. Your doctor will diagnose and treat it much like those.

It’s natural to be nervous or afraid when you’re diagnosed with a serious disease like GE junction cancer. Yet treatments for this condition have improved a lot over the years. Try to learn all you can about the disease and its treatments.

Gastrointestinal Stromal Tumors

Gastrointestinal stromal tumors (GISTs) are tumors that form in the digestive tract — most often the stomach or upper part of the small intestine. GISTs usually begins in cells in the wall of the stomach, intestines, or rectum.

GISTs can form anywhere in the digestive tract, including the:
  • Esophagus
  • Stomach
  • Pancreas
  • Small intestine
  • Appendix
  • Colon
  • Rectum

GISTs can be cancerous (malignant) or noncancerous (benign). Malignant GISTs often spread to the liver. GIST treatment most often involves surgery and targeted therapy drugs.

Gastroparesis

Gastroparesis, which means stomach paralysis, is a condition affecting the nerves and muscles in your stomach. It interferes with the muscle activity (peristalsis) that moves food through your stomach and into your small intestine. When your stomach muscles and nerves can’t activate correctly, your stomach can’t process food or empty itself as it should. This holds up your whole digestive process.

People with gastroparesis have uncomfortable symptoms during digestion, and they can also have longer-lasting side effects. They might have low appetite and trouble meeting their nutritional needs, or trouble controlling their blood sugar. When food finally passes from their stomach, it may not pass completely and may leave some behind. This can develop into a hardened, solid mass called a bezoar.

Gastroschisis

Gastroschisis (also called paraomphalocele, laparoschisis or abdominoschisis) is a type of inherited congenital abdominal wall defect in which the intestines and sometimes other organs develop outside the fetal abdomen through an opening in the abdominal wall.

Gaucher Disease

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver. This can cause many different symptoms.

Gaucher disease

Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes). Glucocerebroside can be collecedt in the spleen, liver, kidneys, lungs, brain, and bone marrow.

Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelet count, and yellow fatty deposits on the white of the eye (sclera). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy or substrate reduction therapy.

The disease is caused by an autosomal recessive mutation in a gene located on chromosome 1 and affects both males and females. Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids.

The disease is named after the French physician Philippe Gaucher, who originally described it in 1882.

Gaucher disease type 2

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. Type 2 Gaucher disease is characterised by onset in infancy and severe involvement of the central nervous system (the brain and spinal cord).

Gaucher disease type 3

A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 3 is a subacute neurological form which often first appears in childhood.

Gaucher disease type I

Type I (or non-neuropathic type) Gaucher disease is by far the most common form of the disease. Patients in this group usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age.

Gaucher-like disease

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. Gaucher-like disease has different signs and symptoms than the three other recognised types of Gaucher disease, although they are caused by mutations in the same gene.

Gay Feinmesser Cohen syndrome

A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx.

Gelatinous ascites

A large abdominal cyst filled with gelatinous or mucous fluid. It is often caused by a mucous-producing abdominal cancer.