Diseases

Infantile multisystem inflammatory disease

Infantile multisystem inflammatory disease (also known as Neonatal onset multisystem inflammatory disease (NOMID); chronic infantile neurologic, cutaneous, and articular syndrome; Prieur-Griscelli syndrome):is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.

 

Source: Genetic Home Reference

Infantile myofibromatosis

Infantile myofibromatosis: A benign fibrous tumor that usually occurs in children or infants. The tumor is not cancerous but the location and size of the tumor can cause problems and even death in some cases if certain organs are involved. Tumors can occur in the skin, muscle, internal organs and bone.

Infantile myopathy and lactic acidosis

Infantile myopathies are associated with severe cytochrome c oxidase (COX) deficiency. These are transmitted as autosomal recessive traits, but the affected genes remain unknown.

Source: Salvatore Di Mauro et al., Mitochondrial Myopathies, Basic Appl Myol 13 (3): 145-155, 2003 

Infantile myopathy and lactic acidosis

Infantile myopathies are associated with severe cytochrome c oxidase (COX) deficiency. These are transmitted as autosomal recessive traits, but the affected genes remain unknown.

The infantile myopathy and lactic acidosis is a primary mitochondrial disease, consequence of dysfunctions of both mitochondrial and nuclear genes either separately or in combination. As a result, oxidative phosphorylation is defective. 

The disease results from a congenital defect in COX. Defects in cytochrome-c oxidase caused by mutations in the SCO2 result in the fatal infantile cardioencephalomyopathy. 

Sources: 

1. Salvatore Di Mauro et al., Mitochondrial Myopathies, Basic Appl Myol 13 (3): 145-155, 2003 

2. Prof. Isidro Ferrer, Institut Neuropatologia, Servei Anatomia Patològica, IDIBELL-Hospital Universitari de Bellvitge, Universitat de Barcelona, CIBERNED, Hospitalet de LLobregat; Spain

3. U.S. National Library of Medicine, http://www.nlm.nih.gov/

 

Infantile myopathy and lactic acidosis

Infantile myopathies are associated with severe cytochrome c oxidase (COX) deficiency. These are transmitted as autosomal recessive traits, but the affected genes remain unknown.

Source: Salvatore Di Mauro et al., Mitochondrial Myopathies, Basic Appl Myol 13 (3): 145-155, 2003 

Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy (neuroaxonal dystrophy infantile) is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills.

Infantile onset spinocerebellar ataxia

Infantile onset spinocerebellar ataxia: A rare disorder that has neurological origins and causes progressive ataxia, impaired tendon reflexes, abnormal limb movements, and sensory, eye muscle and hearing impairment.

Infantile polymyoclonus

Infantile polymyoclonus: A rare disorder characterized by involuntary muscle jerking and rapid eye movements. The condition is not progressive and symptoms go through periods of improvement and deterioration.

Infantile recurrent chronic multifocal osteomyolitis

Infantile recurrent chronic multifocal osteomyolitis: A rare disorder characterized by recurring periods of inflammation. The cause is undetermined and tends to affect mostly children. It is often associated with certain autoimmune diseases such as psoriasis and Wegener's granulomatosis.

Infantile sialic acid storage disorder

Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.

Infantile spasms broad thumbs

Infantile spasms - broad thumbs: A very rare syndrome characterized mainly by spasms during infancy and broad thumbs.

Infection with Mycobacterium marinum

Infection with Mycobacterium marinum: An infectious disease caused by a bacterium called Mycobacterium marinum which can infect fish and humans. It is often transmitted through contact with contaminated fresh or salt water e.g. handling water in aquariums or swimming.

Infectious arthritis

Infectious arthritis: This is a general term used to describe forms of arthritis that are caused by infectious agents, such as bacteria or viruses. A rare condition where arthritis occurs as a result of joint infection by a bacteria, virus or fungus. Symptoms vary according to the infection type.

Infectious myocarditis

Infectious myocarditis: Inflammation of the muscle of the heart (myocardium) due to an infection. It often occurs as a complication of various bacterial, viral or parasitic infections such as rubella, polio and rheumatic fever.

Infective endocarditis

Infective endocarditis: The infection and inflammation of the inner heart layers, especially the valves. The infection is usually bacterial. The condition carries a high risk of death.

Infective myositis

Infective myositis: Inflammation of the skeletal muscles due to any type of infection - bacterial, viral or parasitic.

Inflammatory breast cancer

Inflammatory breast cancer is a rare but very aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called “inflammatory” because the breast often looks swollen and red, or “inflamed.” IBC accounts for 1 to 5 percent of all breast cancer cases in the United States (1). It tends to be diagnosed in younger women compared to non-IBC breast cancer. It occurs more frequently and at a younger age in African Americans than in Whites. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions (2).

Insulin-resistance type B

Insulin-resistance type B: A very rare syndrome where insulin resistance is associated with autoimmune disease. The disorder is caused by antibodies which attack the bodies insulin receptors.

Insulinoma

Insulinoma is form of endocrine pancreatic cancer that usually causes the pancreas to produce too much insulin, leading to the "opposite of diabetes" with conditions such as clinical hypoglycemia.

Interferon gamma- receptor deficiency

Interferon gamma receptor (IFNg) deficiency (medical condition): A rare form of primary immunodeficiency which results in a high risk of severe, recurring infections such as mycobacterial infections.

The functional Interferon gamma receptor is composed of two 90 kDa IFNgR1 proteins and two 62 kDa IFNgR2 proteins . The human IFNgR1 gene contains seven exons, and is located on chromosome 6. The extracellular portion of IFNgR1 contains the IFNg ligand-binding domain; the intracellular portion contains domains necessary for signal transduction and receptor recycling. The IFNgR2 gene also contains seven exons, and is located on human chromosome 21. The intracellular IFNgR2 domain is necessary for signal transduction.

The disease occur as a result of mutation in either the IFNgR1 or the IFNgR2 proteins.

Internal carotid agenesis

Internal carotid agenesis: A very rare malformation where the carotid artery fails to develop. Other brain blood vessels enlarge to try to compensate for the defect and this leads to compression of parts of the brain which can cause neurological symptoms. The severity of symptoms is determined by how well the existing brain blood vessels are able to compensate for the absence of the carotid artery.

Intervertebral disc disease

Intervertebral disc disease: Degenerative changes in the discs located between vertebrae. The severity of the disorder is variable.

Intestinal atresia multiple

Intestinal atresia multiple (medical condition): A rare birth malformation where the intestines are closed off or absent.

Intestinal pseudo-obstruction

Intestinal pseudo-obstruction: Intestinal pseudo-obstruction (false blockage) is a condition that causes symptoms like those of a bowel obstruction (blockage).