Diseases

Complement Factor I (CFI) deficiency

Complement Factor I (CFI) deficiency is a rare genetic disorder affecting the immune system, specifically the complement system. Individuals with CFI deficiency are prone to recurrent infections, particularly those caused by encapsulated bacteria like Neisseria meningitidis and Streptococcus pneumoniae. In addition to infections, some individuals may also experience autoimmune or inflammatory conditions, including glomerulonephritis with isolated C3 deposits, rheumatoid arthritis, or systemic lupus erythematosus. 

CFI deficiency is caused by mutations in the CFI gene, which provides instructions for making the CFI protein. 

Impact on the Complement System:
The CFI protein is a crucial regulator of the complement system, an important part of the innate immune response. It helps control the activation and amplification of the complement cascade, preventing excessive inflammation and tissue damage. 

Infections:
CFI deficiency leads to impaired complement-mediated opsonization and pathogen clearance, making individuals more susceptible to infections, especially those caused by encapsulated bacteria. 

Autoimmune/Inflammatory Conditions:
Defective CFI function can also lead to dysregulation of the immune system, potentially contributing to autoimmune and inflammatory diseases

Complement receptor deficiency

Complement receptor deficiency: Complement receptors are a part of the immune defense system and they initiate the process of destroying and removing invading pathogens. A deficiency of complement receptors thus affects the immune system. It may be inherited or be associated with autoimmune disorders such as systemic lupus erythematosus diabetic nephropathy patients on hemodialysis.

Complete atrioventricular canal

Complete atrioventricular canal: A rare form of congenital heart disease where the there is a hole in the heart wall that separates the upper heart chambers, a hole the heart wall that separates the lower heart chambers and heart valve abnormalities (tricuspid and mitral valves). This results in excessive blood circulation in the lungs leading to congestive heart failure in untreated cases.

Complex 1 mitochondrial respiratory chain deficiency

Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.

Complex 2 mitochondrial respiratory chain deficiency

Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome

Complex 3 mitochondrial respiratory chain deficiency

Complex III dificiency is one type of a mitochondrial diseases and a rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity.

Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency.

Source: wrongdiagnosis

Complex 4 mitochondrial respiratory chain deficiency

Complex 4 mitochondrial respiratory chain deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. There are two subtypes: the benign infantile type only affects muscles whereas the fatal infant type affects the heart and kidneys as well as the muscles.

Complex 5 mitochondrial respiratory chain deficiency

Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).

Conductive hearing loss

Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane (eardrum), or middle ear (ossicles). This type of hearing loss may occur in conjunction with sensorineural hearing loss (mixed hearing loss) or alone.

Condyloma

Condyloma: A type of wart transmitted through direct sexual contact and is caused by the human papilloma virus.

Condyloma acuminatum

Main name of condition: Condyloma. Other names or spellings for Condyloma: Condyloma acuminatum, genital warts, venereal warts

 

Condyloma: A type of wart transmitted through direct sexual contact and is caused by the human papilloma virus.

Cone dystrophy

Cone dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone cells in the retina of the eye leading to vision loss.

Cone rod dystrophy

Cone rod dystrophy: A rare inherited eye disorder characterized by the deterioration of the cone and rod cells in the retina of the eye leading to vision loss

Cone rod dystrophy amelogenesis imperfecta

Cone rod dystrophy - amelogenesis imperfecta: A rare genetic disorder characterized by degeneration of parts of the eye that absorb light (cone rod dystrophy) as well as teeth abnormalities.

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. Only a small minority of people with CAH can be said to have an intersex condition, but this attracted American public attention in the late 1990s and many accounts of varying accuracy have appeared in the popular media.

Congenital absence of the sternocleidomastoid muscle

Congenital absence of the sternocleidomastoid muscle: Absent neck muscle - in particular, the muscle that runs from behind the ear and down to the collar bones. These muscles allow the hear to flex and rotate. One or both of the muscles may be absent

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency

Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.

Congenital adrenal hyperplasia type 2

Congenital adrenal hyperplasia - simple virilizing form in males: A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females.

Congenital afibrinogenemia

Congenital Afibrinogenemia: A rare disorder involving the inability to make fibrinogen which is essential for the process of blood clotting.

Congenital alopecia X-linked

Congenital alopecia X-linked: A rare inherited form of reduced or absent of scalp hair from infancy. As it is X-linked it tends to affect males only.

Congenital amputation

Congenital amputation is the absence of a fetal limb or fetal part at birth. This condition may be the result of the constriction of fibrous bands within the membrane that surrounds the developing fetus (amniotic band syndrome) or the exposure to substances known to cause birth defects (teratogenic agents). Other factors, including genetics, may also play a role.

Congenital aneurysms of the great vessels

Congenital aneurysms of the great vessels: A bulge in one of the main blood vessels in the body - pulmonary artery, pulmonary veins, vena cava and aorta. The condition is generally asymptomatic unless the aneurysm becomes very large or bursts which can result in rapid death depending on the location of the aneurysm.

Congenital anosmia

Congenital anosmia: An inherited reduction or total lack of sense of smell

Congenital aplastic anemia

Congenital aplastic anemia: A genetic disorder where the bone marrow does not produce enough blood cells. Fanconi's anemia is an example of congenital aplastic anemia.