Disease – Page 83 – CheckOrphan

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 (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 1

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 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 ichthyosis restrictive dermopathy

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.

Geleophysic dwarfism

A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities.

Gelineau’s syndrome

A neurological disorder sudden uncontrollable urge to sleep, sleep paralysis and other symptoms.

Gemignani syndrome

A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness.

GEMSS syndrome

A rare syndrome characterized mainly by stiff joints, short stature, glaucoma and a dislocated eye lens

Genee-Wiedemann syndrome

An extremely rare birth disorder characterized by mental retardation and a variety of physical defects.

Generalized arterial calcification of infancy-1 (GACI1)

Generalized arterial calcification of infancy-1 (GACI1) is a very rare condition which was first described in 1901. The features associated with ACI typically include heart failure, high blood pressure (hypertension), and failure to thrive. These features vary, with each infant being differently affected by the severity of their symptoms.

Generalized pustular psoriasis

Generalized pustular psoriasis (GPP) is a rare, chronic, and severe inflammatory skin disorder characterized by sudden eruption of sterile pustules, often accompanied by systemic inflammation. GPP flares can be life-threatening if untreated, owing to potential serious complications such as sepsis and cardiovascular failure. Diagnosis and clinical measurement of disease severity in GPP are often difficult. Lack of standardized criteria in the international guidelines and the heterogeneity of cutaneous and extracutaneous symptoms make the diagnosis of GPP difficult. Clinical criteria for description and diagnosis of pustular conditions, including GPP, are variable and there is no specific agreement on commonly sustained concepts. Differentiation of GPP from other similar conditions/diseases is important and requires careful assessments. The evidence that supports current topical or systemic therapies is largely based on case reports and small studies. Some biologic agents that target key cytokines involved in the activation of inflammatory pathways have been used as treatments for GPP. Recently, spesolimab, an IL-36R antagonist, has been approved in the USA and Japan for the treatment of GPP flares in adults, but there are no currently approved treatments for GPP in Europe. The IL-36 pathway has recently emerged as a central axis driving the pathogenic inflammatory mechanisms of GPP. Biologic agents that inhibit the IL-36 pathway have shown efficacy and safety in patients with GPP, addressing a generally considered unmet medical need.

Generalized resistance to thyroid hormone

Thyroid hormone resistance describes a rare syndrome where the thyroid hormone levels are elevated but the thyroid stimulating hormone (TSH) level is not suppressed, or not completely suppressed as would be expected

Generalized torsion dystonia

The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Those with dystonia usually have normal intelligence and no associated psychiatric disorders.

Genetic reflex epilepsy

A genetic condition where certain lights (e.g. tv), sounds, music, movements and reading can trigger a seizure.

Geniospasm

Geniospasm is movement disorder of the mentalis muscle. It is a benign but socially excluding genetic disorder linked to chromosome 9q13-q21 where there are episodic involuntary up and down movements of the chin and lower lip. The movements consist of rapid fluttering or trembling at about 8Hz superimposed onto a once per three seconds movement of higher amplitude and occur symmetrically in the V shaped muscle. The tongue and buccal floor muscles may also be affected but to a much lesser degree.

Diseases