Diseases

Desmoplastic small round cell tumor

Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Other areas affected may include thelymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the pelvis. Reported sites of metatastic spread include the liver, lungs, lymph nodes, brain, skull, and bones.

The tumor is classified as a soft tissue sarcoma. It is considered a childhood cancer that predominantly strikes boys and young adults. The disease rarely occurs in females, but when it does the tumors can be mistaken for ovarian cancer.

Developmental and Epileptic Encephalopathies

The term “developmental and epileptic encephalopathy” (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity and the neurobiological process behind the epilepsy. Many DEEs are related to gene variants and the onset is typically during early childhood.

DFNB49 nonsyndromic deafness

DFNB49 non-syndromic deafness also known as dfnb 49 nonsyndromic hearing loss and deafness, is an inherited condition caused by mutations in the gene TRIC. Its "non-syndromic" designation means the hearing loss has not previously been linked to any other medical conditions.

Di Guglielmo’s syndrome

First described in 1923 and named after Giovanni Guglielmo. It is classified as an M6 subtype of acute myelogenous leukemia (AML). It is characterised by large numbers of nucleated red cells appearing in the bone marrow and circulating blood volume.

Diabetes insipidus primary central

A rare dominantly inherited form of diabetes insipidus. It is caused by the progressive degeneration of a part of the hypothalamus which reduces the production of a hormone called arginine vasopressin.

Diabetes insipidus- diabetes mellitus- optic atrophy

Wolfram syndrome is the inherited association of childhood-onset diabetes mellitus and progressive-onset optic atrophy. All people affected by Wolfram syndrome have juvenile-onset diabetes mellitus and degeneration of the optic nerve (optic atrophy).

Diabetes insipidus- nephrogenic type 2

Diabetes insipidus, nephrogenic type 2: A rare 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. Type II is specifically caused by a defect in the AQP2 gene on chromosome 12q13.

Diabetes insipidus- nephrogenic type 3

Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. The tubules allow water to be removed from the body or reabsorbed.

Diabetes insipidus- nephrogenic with mental retardation and intracerebral calcification

Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification (medical condition): A rare syndrome characterized mainly by brain calcification, mental retardation, short stature, diabetes insipidus and unusual facial appearanc+B169 e. Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification: Another name for Schofer beetz bohl syndrome (or close medical condition association).

Diabetes insipidus- nephrogenic- dominant type

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 mellitus type 1

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.

 

Source: Juvenile Diabetes Research Foundation

Diabetes mellitus- transient neonatal

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 2

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 3

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 agenesia

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 agenesis radial aplasia omphalocele

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

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

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.

Diarrhea chronic with villous atrophy

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

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

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: 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 1

Dibasic aminoaciduria type 1: A rare disorder where the kidney excretes excessive amounts of certain amino acids (lysine, ornithine and arginine.