Diseases

Iida Kannari syndrome

Iida-Kannari syndrome: A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones.

Illum syndrome

Illum syndrome: A very rare disorder characterized by a distinctive "whistling face" and contractures in multiple joints.

Ilyina Amoashy Grygory syndrome

Ilyina amoashy grygory syndrome (medical condition): A rare syndrome characterized by mental retardation, webbed fingers and hair, nail and teeth abnormalities.

Imaizumi Kuroki syndrome

Imaizumi Kuroki syndrome: A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities.

Iminoglycinuria

Iminoglycinuria: A genetic disorder where dysfunctional kidney tubules can't reabsorb certain aminoacids (proline, hydroxyproline and glycine) and hence it is excreted in the urine. The condition is generally asymptomatic other than the urinary excretion of various amino acids.

Immature Teratoma

An immature teratoma is a rare type of malignant (cancerous) germ cell tumor (type of tumor that begins in the cells that give rise to sperm or eggs).

Like a mature teratoma, it contains several different types of tissue such as hair, muscle, and bone. Unlike a mature teratoma, it contains primitive neuroepithelium.

A teratoma is an encapsulated tumor with tissue or organ components resembling normal derivatives of more than onegerm layer. The tissues of a teratoma, although normal in themselves, may be quite different from surrounding tissues and may be highly disparate; teratomas have been reported to contain hair, teeth, bone and, very rarely, more complex organs or processes such as eyes, torso, and hands, feet, or other limbs.

Immotile cilia syndrome- due to defective radial spokes

Immotile cilia syndrome, due to defective radial spokes: A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.

Immotile cilia syndrome- due to excessively long cilia

Immotile cilia syndrome, due to excessively long cilia: A very rare disorder where the cilia fail to move adequately due to abnormally long cilia. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.

Immune defect due to absence of thymus

Immune defect due to absence of thymus: A congenital disorder where the absence of the thymus results in immune system problems (deficiency of T-Lymphocytes). The thymus is involved in the production of mature functioning T-cells which fight infection.

Immune deficiency- familial variable

Immune deficiency, familial variable: A familial immune system problem involving low levels of various immunoglobulins. The immunoglobulins involved may vary between patients.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. Most patients with IPEX syndrome are males, and the disease can be life-threatening in early childhood.

Immune thrombocytopenia

Immune thrombocytopenia is a bleeding disorder also known as Idiopathic thrombocytopenia purpura (ITP) and affects children and adults. Children often develop ITP after a viral infection and usually recover fully without treatment. In adults, the disorder is often long term.

It is a disorder that can lead to easy or excessive bruising and bleeding. The bleeding results from unusually low levels of platelets — the cells that help blood clot.

In most cases, an autoimmune response is thought to cause Immune thrombocytopenia. Normally, your immune system helps your body fight off infections and diseases. But if you have Immune thrombocytopenia, your immune system attacks and destroys its own platelets. The reason why this happens isn't known.

Immunodeficiency- microcephaly with normal intelligence

Immunodeficiency, microcephaly with normal intelligence: A rare disorder characterized by a small head, normal intelligence and problems with the immune system. The disorder is also involves an increased risk of certain malignancies.

Immunoglobulin a deficiency 1

mmunoglobulin A deficiency (selective): A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.

Immunoglobulin G4–related disease

Immunoglobulin G4–related disease is a systemic immune-mediated fibroinflammatory disease that presents as organ dysfunction or mass lesions with lymphoplasmacytic infiltration in single or multiple organs. It can result in organ failure or death if untreated. This disease has been recognized as a distinct clinical entity since the beginning of the 21st century, when investigators in Japan reported that extrapancreatic manifestations of autoimmune sclerosing pancreatitis shared a distinct histopathologic signature with the parent disease. Since then, the histologic features of infiltrative IgG4-positive plasma cells, storiform fibrosis and obliterative phlebitis have been reported in almost every organ and share similar features with apparently unrelated pathologic entities, such as dacryoadenitis (Mikulicz disease) to retroperitoneal fibrosis (Ormond disease).

Impairment of oral perception

Impairment of oral perception: A rare disorder where the mouth lacks the ability to detect sensations which affects oral function.

Imperforate anus

An imperforate anus or anal atresia is a birth defect in which the rectum is malformed.

Impossible syndrome

Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.

Inborn amino acid metabolism disorder

Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.

Inborn branched chain aminoaciduria

Inborn branched chain aminoaciduria: Any inherited disorder that results in abnormally high levels of branched chain amino acids in the urine. Branched chain amino acids includes leucine, valine and isoleucine. Maple syrup urine disease is the main inborn disorder that causes this form of aminoaciduria.

Inborn renal aminoaciduria

Inborn renal aminoaciduria: A rare disorder where an inherited kidney disorder results in abnormally high levels of amino acids in the urine. Symptoms vary depending on the amino acid involved and the severity of the dysfunction.

Inborn urea cycle disorder

Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.

Inclusion body myopathy- 2 autosomal recessive

Inclusion body myopathy, 2 autosomal recessive: A very rare, recessively inherited genetic disorder involving progressive muscle weakness and wasting in the arms and legs. The distinctive feature of this particular disorder is the fact that the thigh muscles are usually spared.

Inclusion body myopathy- autosomal dominant

Inclusion body myopathy, autosomal dominant: A dominantly inherited muscle wasting disorder in which the thigh muscles are affected first. The rate of progression and severity can vary amongst patients.