Diseases

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.

Inclusion Body Myositis

Inclusion body myositis (IBM) is a rare inflammatory muscular disorder that usually becomes apparent during adulthood. The disorder presents as slow progressive weakness and withering away (atrophy) of the muscles (myositis), especially of the arms and legs. Inclusion body myositis frequently is diagnosed when a patient is unresponsive to therapy prescribed for polymyositis.

Inclusion conjunctivitis

nclusion conjunctivitis: Inflammation of the conjunctiva of the eye by the bacterium Chlamydia trachomatis which is a sexually transmitted pathogen. The infection can occur in newborns while passing through an infected birth canal. Adult infections tend to be transmitted to the eye from the infected genitals via the hands. Infected swimming ppols or hot tubs may also be a source of infection.

Incontinentia pigmenti

Incontinentia pigmenti (IP, Bloch–Siemens syndrome, Bloch–Sulzberger disease, Bloch–Sulzberger syndrome, melanoblastosis cutis, nevus pigmentosus systematicus ), is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system. It is named due to its microscopic appearance.

indolent systemic mastocytosis

Mastocytosis is a rare disease characterized by proliferation and accumulation of mast cells in various tissues, causing a wide variety of clinical symptoms. Indolent systemic mastocytosis, including the subvariant of smouldering systemic mastocytosis, is a lifelong condition associated with reduced quality-of-life.

Mastocytosis can be categorized into cutaneous mastocytosis and systemic mastocytosis. Systemic mastocytosis (SM) can be further categorized into indolent SM, smouldering SM and aggressive SM. Patients with indolent SM or smouldering SM have a (nearly) normal life expectancy, while patients with aggressive SM have a median overall survival of approximately 4 years.

There is a high unmet need in indolent systemic mastocytosis (ISM) and smouldering systemic mastocytosis (SSM) for new therapeutic options with demonstrated activity on severe symptoms and adequate safety profile for a life-long treatment. Masitinib is the leading program in ISM and a viable approach to this goal.

Infantile apnea

Infantile apnea: A disorder where infants stop breathing temporarily.

Infantile axonal neuropathy

Infantile axonal neuropathy: A very rare form of progressive nerve damage that starts early in life. The central nervous system is also usually involved.

infantile cystinosis

Infantile (early-onset) Cystinosis. Infants with cystinosis might have no noticeable symptoms at first. However, by 6 – 12 months of age, problems start to appear, including below-average growth, feeding intolerance (picky eating and/or fussiness), frequent urination, and periods of dehydration (constant thirst).

Infantile digital fibromatosis

Infantile digital fibromatosis (medical condition): A rare disorder where firm pink nodules develop mainly on the fingers and toes of infants. Often they are present at birth. There is no determined cause but it is considered a harmless condition. Often the lumps disappear on their own and others can be surgically removed but they often recur.