Diseases

Catastrophic Antiphospholipid Syndrome

A very rare disorder where the blood clotting system becomes dysfunctional and clots too easily due to the abnormal presence of antphospholipid antibodies . It results in blood flow blockages to various body organs. It is possible that the condition has autoimmune origins. The disorder is often triggered by infections, certain drugs (e.g. anticoagulants), minor surgery and hysterectomy.

Catatrichy

A hair anomaly where a lock of hair is different in appearance to the rest of the hair. The anomaly may be inherited.

Catecholamine hypertension

High blood pressure caused by catecholamines (epinephrine and norepinephine) which is produced by the body especially in times of stress. Adrenal tumors that secrete catecholamines can also increase blood pressure as can medications containing catecholamines.

Catel Manzke syndrome

A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.

CDG syndrome type 1B

A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.

CDG syndrome type 1C

A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a ?1,3-glucosyl-transferase enzyme defect.

CDG syndrome type 2

Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.

CDG syndrome type 4

Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 4 is caused by a genetic defect which involves the gene for a particular enzyme (dolichyl-P-mannose:Man-5-GlcNAc-2-PP-dolichyl-mannosyltransferase).

CDK4 linked melanoma

A mutation in the CDK4 gene can cause an increased susceptibility to melanomas.

CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a rare genetic neurological condition caused by mutations in the X-linked CDKL5 gene, leading to severe developmental delays, early-onset, difficult-to-treat seizures (epileptic encephalopathy), intellectual disability, and significant motor/speech impairments. It primarily affects girls, often presenting with symptoms like cortical visual impairment, sleep problems, gastrointestinal issues, and repetitive hand movements, requiring multidisciplinary care as there’s currently no cure. 

Celiac Disease

Celiac disease is a digestive disease that damages the small intestine and interferes with absorption of nutrients from food. People who have celiac disease cannot tolerate gluten, a protein in wheat, rye, and barley. Gluten is found mainly in foods but may also be found in everyday products such as medicines, vitamins, and lip balms.

When people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging or destroying villi – the tiny, fingerlike protrusions lining the small intestine. Villi normally allow nutrients from food to be absorbed through the walls of the small intestine into the bloodstream. Without healthy villi, a person becomes malnourished, no matter how much food one eats.

Celiac disease is both a disease of malabsorption – meaning nutrients are not absorbed properly – and an abnormal immune reaction to gluten. Celiac disease is also known as celiac sprue, nontropical sprue, and gluten-sensitive enteropathy. Celiac disease is genetic, meaning it runs in families. Sometimes the disease is triggered – for becomes active for the first time – after surgery, pregnancy, childbirth, viral infection, or severe emotional stress.

How common is celiac disease?

Celiac disease affects people in all parts of the world. Originally thought to be a rare childhood syndrome, celiac disease is now known to be a common genetic disorder. More than 2 million people in the United States have the disease, or about 1 in 133 people. Among people who have a first-degree relative – a parent, sibling, or child – diagnosed with celiac disease, as many as 1 in 22 people may have the disease.

Celiac disease is also more common among people with other genetic disorders including Down syndrome and Turner syndrome, a condition that affects girls' development.

 

Source: National Digestive Diseases Information Clearinghouse (NDDIC)

Cennamo Gangemi syndrome

A rare syndrome characterized by small eyes, congenital cataracts and hydrocephalus (buildup of fluid in the brain).

Central core disease

Central core disease (CCD) is an autosomal dominant congenital myopathy (inborn muscle disorder)

Central Diabetes Insipidus

A rare dominantly inherited form of diabetes insipidus. It is caused by the progressive degeneration of a part of the hypothalamus which reduces the production of a hormone called arginine vasopressin.

Central serous chorioretinopathy

A rare eye disorder where fluid collects under the retina which affects vision. The condition usually resolves itself within 6 months though most people suffering lingering vision disturbances such as distortion, reduced sensitivity to contrast, impaired night vision and reduced color vision.

Ceramide trihexosidosis

Ceramide trihexosidosis is also known as Fabry's disease, and is a condition wherein an enzyme deficiency causes a fat storage disorder. This is because the enzyme deficiency affects the lipid biodegradation functions of the body.

Cercarial Dermatitis

Swimmer's itch, also called cercarial dermatitis, appears as a skin rash caused by an allergic reaction to certain parasites that infect some birds and mammals. These microscopic parasites are released from infected snails into fresh and salt water (such as lakes, ponds, and oceans). While the parasite's preferred host is the specific bird or mammal, if the parasite comes into contact with a swimmer, it burrows into the skin causing an allergic reaction and rash. Swimmer's itch is found throughout the world and is more frequent during summer months.

Cerebellar agenesis

A rare disorder characterized by an absent or underdeveloped portion of brain called the cerebellum which controls muscle and balance. Partial absence may cause little or no symptoms but complete absence results in movement and muscle problems

Cerebellar ataxia

A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia.

Cerebellar degeneration

Degeneration of nerves in the part of the brain called the cerebellum which controls balance and muscle coordination.