Diseases

Creatine Transporter Deficiency

Creatine Transporter Deficiency is a rare x-linked inborn error of creatine metabolism, broadly classified as an Autism Spectrum Disorder and form of x-linked mental retardation (XLMR). CTD is caused by a defect in the SLC6A8 gene that encodes the creatine transporter protein necessary for the transport of creatine across the blood-brain barrier and across cell membranes. Creatine is taken into cells via the creatine transporter, where it plays an essential role in energy homeostasis, particularly for tissues with high and fluctuating energy demands, such as neurons. Simply put, patients with CTD lack creatine in the brain, which is an essential component of the energy system, and as a result the brain does not have the energy to function properly. This lack of energy results in the symptoms associated with CTD.

Creeping disease

Creeping disease: A skin disease caused by a parasite which tunnels its way through the skin leaving a visible red, itchy, linear eruption on the skin where it has been. The hookworm parasite can't use humans to complete its life cycle but continues to travel through the skin until it dies. Transmission usually occurs through skin contact with warm, moist soil contaminated by the feces of an infected animal.

CREST syndrome

CREST stands for Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasia.

Cretinism

Cretinism (medical condition): A congenital deficiency of thyroid hormone due to complete or partial failure of the thyroid gland.

Cretinism athyreotic

Cretinism athyreotic: A rare form of congenital hypothyroidism that causes mental and physical growth retardation in infants or children. Prompt thyroid hormone therapy is essential in order to prevent progressive neurological and motor deterioration.

Creutzfeldt-Jakob disease

Creutzfeldt–Jakob disease  or CJD is a degenerative neurological disease that is incurable and invariably fatal. CJD is at times called a human form of mad cow disease (bovine spongiform encephalopathy or BSE). However, given that BSE is believed to be the cause of variant Creutzfeldt–Jakob (vCJD) disease in humans, the two are often confused.

CJD is caused by an agent called a prion. Prions are misfolded proteins that replicate by converting their properly folded counterparts, in their host, to the same misfolded structure they possess. CJD causes the brain tissue to degenerate rapidly, and as the disease destroys the brain, the brain develops holes and the texture changes to resemble that of a kitchen sponge.

Cri du chat syndrome

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p- (said minus) syndrome or Lejeune's syndrome, is a rare genetic disorder due to a missing part (deletion) of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.

Crigler Najjar syndrome type 1

Crigler-Najjar syndrome, type 1: A rare congenital condition involving a total absence of the liver enzyme called glucoronyl transferase which is needed to change bilirubin into a form that can be removed from the body. The bilirubin builds up in the body and causes damage and severe symptoms. Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body.

Crigler Najjar syndrome- type 2

Crigler-Najjar syndrome, type 2: A rare congenital condition involving a partial absence of the liver enzyme called glucoronyl transferase which is needed to change bilirubin into a form that can be removed from the body. The bilirubin builds up in the body and causes damage and symptoms but to a lesser extent than in type 1.

Crisponi syndrome

Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.

Crohn’s disease of the esophagus

Crohn's disease of the esophagus: A rare disorder where Crohn's disease occurs in the esophagus. Crohn's disease is a chronic inflammation of the walls of the digestive tract and usually occurs in the intestines.

Crome syndrome

Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.

Cronkhite-Canada disease

Cronkhite-Canada disease: A rare condition characterized primarily by polyps in the digestive tract, hair loss and nail problems.

Crossed polydactyly type 1

Crossed polydactyly type 1: A birth defect where there is an extra big toe combined with and extra finger on the opposite side to the thumb or and extra thumb and an extra toe on the opposite side to the thumb. Webbing of various fingers and toes is also often present.

Crossed polysyndactyly

Crossed polysyndactyly: A rare malformation characterized by an extra finger beside the small finger, duplication of the big toe and webbing of various fingers and toes.

Crouzon syndrome

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.

Cryofibrinogenemia

Cryofibrinogenemia: A rare condition where a blood protein precipitates when it cools and then redissolves once it is warmed again. The disorder can occur for no apparent reason or may be associated with conditions such as cancer, infections and blood clotting disorders. Some sufferers are asymptomatic whereas other develop thrombosis or skin symptoms in response to exposure to cold.

Cryoglobulinemia – essential mixed

Cryoglobulinemia is a medical condition that is caused by proteins called cryoglobulins, which are present in the blood. Cryoglobulins are abnormal proteins that by definition have the unusual property of precipitating from the serum specimen when it is chilled in the laboratory and redissolving into the serum upon rewarming. Cryoglobulins may or may not be causing disease. Cryoglobulins can accompany another condition (such as dermatomyositis, multiple myeloma, or lymphoma) or be an isolated condition themselves, called cryoglobulinemia.

Cryptococcosis

Cryptococcosis is a chronic, subacute to acute pulmonary, systemic or meningitic disease, initiated by the inhalation of basidiospores and/or desiccated yeast cells of Cryptococcus neoformans. Primary pulmonary infections have no diagnostic symptoms and are usually subclinical. On dissemination, the fungus usually shows a predilection for the central nervous system, however skin, bones and other visceral organs may also become involved. Although C. neoformans is regarded as the principle pathogenic species, C. albidus and C. laurentii have on occasion also been implicated in human infection.

source: mycology

Cryptogenic organized pneumopathy

Cryptogenic organized pneumopathy (medical condition): Inflammation of lung tissue (bronchioles and surrounding tissue) which may occur on its own or as a result of other conditions such as certain infections.

Cryptosporidiosis

Cryptosporidiosis, is a parasitic disease caused by the parasite Cryptosporidium. It affects the distal small intestine and can affect the respiratory tract in both immunocompetent (i.e., individuals with a normal functioning immune system) and immunocompromised (e.g., persons with HIV/AIDS) individuals, resulting in watery diarrhea with or without an unexplained cough. In immunocompromised individuals, the symptoms are particularly severe and can be fatal. It is primarily spread through the fecal-oral route, often through contaminated water.

In most healthy people, cryptosporidium infection produces a bout of watery diarrhea and the infection usually goes away within a week or two. If you have a compromised immune system, a cryptosporidium infection can become life-threatening without proper treatment.

You can help prevent a cryptosporidium infection by practicing good hygiene and avoiding swallowing water from pools, recreational water parks, lakes and streams.

Crystal deposit disease

Crystal deposit disease: A group of diseases characterized by the deposit of crystals in body tissues. Some examples of such disorders includes scleroderma, dermatomyositis, arthritis and kidney disease. The severity and type of symptoms depend on the nature and location of the crystals deposited.

Culler Jones syndrome

Culler-Jones syndrome: A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger.

Cushing’s syndrome

Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased growth of body and facial hair. This condition may be caused by a variety of factors including long-term use of corticosteroid medications, tumors in the pituitary gland or adrenal adenomas. Treatment depends on the underlying cause, but may include decreasing the dosage of corticosteroids or surgery to remove tumors.