Diabetes insipidus, nephrogenic, dominant type: A rare dominantly inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
Diabetes (medically known as diabetes mellitus) is the name given to disorders in which the body has trouble regulating its blood glucose, or blood sugar, levels. There are two major types of diabetes: type 1 diabetes and type 2 diabetes. Type 1 diabetes, also called juvenile diabetes or insulin-dependent diabetes, is a disorder of the body's immune system -- that is, its system for protecting itself from viruses, bacteria or any "foreign" substances. Type 1 diabetes diagnosed in adults over 30 may be Latent Autoimmune Diabetes in Adults (LADA), sometimes known as Type 1.5 diabetes. LADA is often misdiagnosed as type 2 diabetes because of age; however people with LADA do not have insulin resistance like those with type 2. LADA is characterized by age, a lack of family history of type 2 diabetes, a gradual increase in insulin requirements, positive antibodies, and decreasing ability to make insulin as indicated by a low C-peptide. A fourth and very rare form of diabetes, called monogenic diabetes, is also sometimes mistaken for type 1 diabetes but typically strikes newborns.
Type 1 diabetes occurs when the body's immune system attacks and destroys certain cells in the pancreas, an organ about the size of a hand that is located behind the lower part of the stomach. These cells - called beta cells - are contained, along with other types of cells, within small islands of endocrine cells called the pancreatic islets. Beta cells normally produce insulin, a hormone that helps the body move the glucose contained in food into cells throughout the body, which use it for energy. But when the beta cells are destroyed, no insulin can be produced, and the glucose stays in the blood instead, where it can cause serious damage to all the organ systems of the body.
For this reason, people with type 1 diabetes must take insulin in order to stay alive. This means undergoing multiple injections daily, or having insulin delivered through an insulin pump, and testing their blood sugar by pricking their fingers for blood six or more times a day. People with diabetes must also carefully balance their food intake and their exercise to regulate their blood sugar levels, in an attempt to avoid hypoglycemic (low blood sugar) and hyperglycemic (high blood sugar) reactions, which can be life threatening.
Diabetes mellitus, transient neonatal: A form of infant diabetes that starts usually in the month of life but then usually disappears within a year. The condition predisposes the infant to diabetes later in life.
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA patients have low red blood cell counts (anemia). The rest of their blood cells (the platelets and the white blood cells) are normal. A variety of other congenital abnormalities may also occur.
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA patients have low red blood cell counts (anemia). The rest of their blood cells (the platelets and the white blood cells) are normal. A variety of other congenital abnormalities may also occur.
Diaphragmatic hernia - exomphalos - corpus callosum agenesis: A very rare syndrome characterized mainly by a diaphragmatic hernia (defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity), brain development abnormalities and deafness.
Omphalocele - exstrophy - imperforate anus: A very rare syndrome characterized mainly by the absence of an anal opening, spine defects and omphalocele (abdominal organ protruding from the belly button).
Diaphragmatic defect - limb deficiency - skull defect: A very rare syndrome characterized mainly by a defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity, poor skull calcification and limb abnormalities involving missing or abnormal bones in the arms or legs.
Diaphragmatic hernia - exomphalos - corpus callosum agenesis: A very rare syndrome characterized mainly by a diaphragmatic hernia (defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity), brain development abnormalities and deafness.
Diaphragmatic hernia - upper limb defects: A rare congenital disorder involving a diaphragmatic hernia and arm or hand defects.
Diarrhea chronic with villous atrophy: A very rare metabolic disorder which causes abnormalities in the intestinal lining which results in chronic diarrhea. The reported patients died at 12 years of age and suffered a variety of other problems.
Diarrhea - polyendocrinopathy - infections, X-linked: A rare X-linked disorder characterized by diarrhea and severe, fatal infections during infancy. The body's immune system attacks it's own endocrine glands and various other organs. Females are carriers and can have mild symptoms whereas males suffer the fatal course of the disease.
Diastematomyelia: A congenital malformation involving a split in the spinal cord (diastematomyelia). Symptoms vary according to the size and location of the defect. Mild cases may cause few if any symptoms.
Diastrophic dysplasia: Diastrophic dysplasia (DTD) is a rare growth disorder in which patients are usually short, have club feet, and have malformed handsmand joints. Diastrophic dysplasia: A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities.
Dibasic aminoaciduria type 1: A rare disorder where the kidney excretes excessive amounts of certain amino acids (lysine, ornithine and arginine.
Dibasic aminoaciduria 2: A rare condition where protein intolerance occurs as a result of a defect in the transport of dibasic amino acids through the intestines and kidneys. The amino acids (component of protein) can't be broken down properly and used by the body so it builds up and causes damage.
Dicarboxylicaminoaciduria: A rare metabolic syndrome involving a defect in the transport of certain amino acids (glutamate, aspartate) and resulting in high levels of dicarboxylic amino acids in the urine. Often no observable symptoms occur.
Die Smulders-Droog-Van Dijk syndrome (medical condition): A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove. Die Smulders-Droog-Van Dijk syndrome: Another name for Blepharophimosis - nasal groove - growth retardation (or close medical condition association).
Die-Smulders-Vles-Fryns syndrome: A very rare disorder characterized by facial anomalies, long thin fingers and mental retardation.
Diencephalic syndrome of infancy: A rare syndrome usually caused by a brain tumor located near the hypothalamus and results in symptoms such as low blood sugar, pale skin and loss of skin fat and failure to thrive.
Dieterich's disease: A rare disorder involving destruction of the head of the metacarpal bone due to an interrupted blood supply to the bone. The metacarpal bone is the hand bone that attaches to the finger bones. The disorder is often associated with trauma, steroid use or systemic lupus erythematosus .
Diethylstilbestrol antenatal infection: A very rare syndrome characterized mainly caused by exposure to diethylstilbestrol (used to prevent complications during pregnancy such as miscarriage and prematurity) during pregnancy.
Diffuse idiopathic skeletal hyperostosis: A form of degenerative arthritis characterized by calcification on the sides of the spine vertebrae as well as inflammation and calcification of tendons where they attach to bone which often results in bone spurs.
A Diffuse Intrinsic Pontine Glioma (DIPG) is a tumor located in the pons (middle) of the brain stem. The brain stem is the bottom most portion of the brain, connecting the cerebrum with the spinal cord. The majority of brain stem tumors occur in the pons (middle brain stem), are diffusely infiltrating (they grow amidst the nerves), and therefore are not able to be surgically removed. Glioma is a general name for any tumor that arises from the supportive tissue called glia, which help keep the neurons ("thinking cells") in place and functioning well. The brain stem contains all of the "wires" converging from the brain to the spinal cord as well as important structures involved in eye movements, face and throat muscle control and sensation.
Diffuse large B-cell lymphoma (DLBCL or DLBL) is a cancer of B cells, a type of white blood cell responsible for producing antibodies. It is the most common type of non-Hodgkin lymphoma among adults,with an annual incidence of 7–8 cases per 100,000 people per year. This cancer occurs primarily in older individuals, with a median age of diagnosis at approximately 70 years of age, though it can also occur in children and young adults in rare cases. DLBCL is an aggressive tumor which can arise in virtually any part of the body, and the first sign of this illness is typically the observation of a rapidly growing mass, sometimes associated with fever, weight loss, and night sweats.
The causes of diffuse large B-cell lymphoma are not well understood. Usually DLBCL arises from normal B cells, but it can also represent a malignant transformation of other types of lymphoma or leukemia. An underlying immunodeficiency is a significant risk factor. Infection with Epstein–Barr virus has also been found to contribute to the development of some subgroups of DLBCL.
Diagnosis of DLBCL is made by removing a portion of the tumor through a biopsy, and then examining this tissue using a microscope. Usually a hematopathologist makes this diagnosis. Several subtypes of DLBCL have been identified, each having a different clinical presentation and prognosis. However, the usual treatment for each of these is chemotherapy, often in combination with an antibody targeted at the tumor cells.Through these treatments, more than half of patients with DLBCL can be cured, and the overall five-year survival rate for older adults is around 58%.
Diffuse neonatal hemangiomatosis: A very rare syndrome characterized mainly by multiple capillary hemangiomas as well as other abnormalities.
Diffuse palmoplantar keratoderma, Bothnian type: Thickened skin on palms and soles.
Diffuse panbronchiolitis: A pulmonary disease involving chronic inflammation of the airways which causes obstruction and can lead to respiratory failure and even death if untreated.
Scleroderma is a chronic autoimmune disease characterized by a hardening or sclerosis in the skin or other organs. The localized type of the disease, known as "morphea", while disabling, tends not to be fatal. The systemic type or systemic sclerosis, the generalized type of the disease, can be fatal, as a result of heart, kidney, lung or intestinal damage. It is currently not fully understood what exactly causes this disease, although there are various theories.