Inflammation and destruction of blood vessel walls which leads to death of associated tissue. Symptoms are determined by the extent and location of the blood vessel inflammation. The inflammation possibly has autoimmune origins. It can occur in condition such as rheumatoid arthritis, systemic lupus erythematosus and scleroderma.
A blood disorder characterized by a reduced number of neutrophils (type of white blood cell) which affects the body's ability to fight infection.
Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disorder that features a persistent neutrophilia in peripheral blood, myeloid hyperplasia in bone marrow, hepatosplenomegaly, and the absence of the Philadelphia chromosome or a BCR/ABL fusion gene.
Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory lung disease that causes obstructed airflow from the lungs. Symptoms include breathing difficulty, cough, mucus (sputum) production and wheezing. It’s typically caused by long-term exposure to irritating gases or particulate matter, most often from cigarette smoke. People with COPD are at increased risk of developing heart disease, lung cancer and a variety of other conditions.
Emphysema and chronic bronchitis are the two most common conditions that contribute to COPD. These two conditions usually occur together and can vary in severity among individuals with COPD.
Chronic bronchitis is inflammation of the lining of the bronchial tubes, which carry air to and from the air sacs (alveoli) of the lungs. It’s characterized by daily cough and mucus (sputum) production.
Emphysema is a condition in which the alveoli at the end of the smallest air passages (bronchioles) of the lungs are destroyed as a result of damaging exposure to cigarette smoke and other irritating gases and particulate matter.
Although COPD is a progressive disease that gets worse over time, COPD is treatable. With proper management, most people with COPD can achieve good symptom control and quality of life, as well as reduced risk of other associated conditions.
Chronic pancreatitis (CP) is a progressive inflammatory disease of the pancreas, characterized by irreversible morphologic changes and gradual fibrotic replacement of the gland. Loss of exocrine and endocrine function results from parenchymal fibrosis. The primary symptoms of CP are abdominal pain and maldigestion. Because of diagnostic and therapeutic challenges, an interdisciplinary management strategy is required.
Chronic recurrent multifocal osteomyelitis (CRMO) ("multifocal" because it can erupt in different sites, primarily bones; "osteomyelitis" because it is very similar to that disease but appears to be without any infection), is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. Its definition is evolving. Many doctors and articles described CRMO as an autoimmune disease that has symptoms similar to osteomyelitis, but without the infection. Some doctors thought CRMO was related to SAPHO syndrome. Cutting edge research now classifies CRMO as an inherited autoinflammatory disease but have yet to isolate the exact gene responsible for it. Some specialists believe they have discovered a link between CRMO with a rare allele of marker D18S60, resulting in a haplotype relative risk (HRR) of 18. Other experts found that "mutations in LPIN2 cause a syndromic form of chronic recurrent multifocal osteomyelitis known as Majeed syndrome, while mutations in pstpip2 cause a murine form of the disorder. The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the etiology of chronic recurrent multifocal osteomyelitis are uncertain but are currently being investigated." The professional theories seem to be moving in the direction of an inherited gene.
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central-nervous-system involvement, and arthropathy
A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected.
Churg–Strauss syndrome (CSS) is an autoimmune condition that causes inflammation of small and medium-sized blood vessels (vasculitis) in persons with a history of airway allergic hypersensitivity (atopy). It usually manifests in three stages. The early (prodromal) stage is marked by airway inflammation; almost all patients experience asthma and/or allergic rhinitis. The second stage is characterized by abnormally high numbers of eosinophils (hypereosinophilia), which causes tissue damage, most commonly to the lungs and the digestive tract. The third stage consists of vasculitis, which can eventually lead to cell death and can be life-threatening.
Chylomicron retention disease is characterized by fat malabsorption, hypocholesterolemia, normal fasting triglycerides, and marked intestinal steatosis despite the presence of both plasma and intestinal apoprotein B. The defect remains unknown but presumably involves the synthesis or secretion of chylomicrons.
A rare disorder characterized by the presence of numerous small lung cysts at birthinfant born with lung cysts which severely affects breathing and blood pressure and generally results in infant death
A rare disorder involving obstruction of the drainage of the abdominal lymph glands which results in abdominal accumulation of milky white fluid
Cicatricial pemphigoid (CP) refers to a group of rare chronic autoimmune blistering diseases that predominately affects the mucous membranes, including the conjunctiva, and occasionally the skin.
Ciguatera is a form of human poisoning caused by the consumption of subtropical and tropical marine finfish which have accumulated naturally occurring toxins through their diet. The toxins are known to originate from several dinoflagellate (algae) species that are common to ciguatera endemic regions in the lower latitudes.
A rare disorder where abnormal function of cilia in the breathing passages causes frequent lung problems such as respiratory tract infections.
A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia
A very rare inherited disease characterized by premature degeneration of the hip joints
A rare birth malformation where a patch of skin on the scalp is missing.
A rare metabolic disorder where citrulline is unable to be transported within the body which affects growth. In one case, a 19 year old had the height and weight of a 6 year old.
Citrullinemia is one of the urea cycle disorders, caused by argininosuccinic acid synthetase deficiency (ASS), with an estimated incidence of 1/57,000 live births. The diagnosis of citrullinemia is based on biochemical analysis of blood, plasma, and urine, revealing increased levels of ammonia, citrulline, glutamine, and orotic acid. ASS enzyme activity can be assayed in liver samples and cultured fibroblasts. In neonatal-onset disease, neonates exhibit lethargy and vomiting 24–72 hours after birth, rapidly progressing to respiratory insufficiency and coma. Neurodevelopmental outcome of neonatal urea cycle defects is disappointing and is related to the duration of neonatal hyperammonemic coma. There is, however, no consensus regarding other early prognostic indicators. Reports on imaging findings in citrullinemia are sparse. A recent article describes CT findings in two infants in the chronic stage of this disease.
Type 2 citrullinemia is also an adult-onset, autosomal recessive disorder characterized by episodes of hyperammonemic encephalopathy. It is caused by mutations in the SLC25A13 gene, which encodes the liver-specific isoform of the mitochondrial aspartate–glutamate carrier (AGC2).
A very rare syndrome characterized mainly by tallness, large head, mental retardation and various facial anomalies.
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. Since the substances also accumulate in the urine, the disorder can also be called citrullinuria.
Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions taking place in the liver. These reactions process excess nitrogen, generated when protein is used for energy by the body, to make urea, which is excreted by the kidneys.
Clayton-Smith Donnai syndrome: A very rare syndrome characterized by scaly skin and facial and finger anomalies.
Clear-cell carcinoma of the ovary (CCCO) is a distinct entity of epithelial ovarian cancer in terms of clinical, histopathological, or genetic features. The incidence of CCCO is different by ethnicity but the reason is not clear yet. Overall prognosis of CCCO is good because most CCCO is found in stage I. However, advanced disease is associated with a very poor prognosis and resistance to standard treatment. The same is true for recurrent disease. Therefore, genetic analysis of CCCO is important to find the right target(s) and better therapeutic approaches. Because of its rarity, international collaboration is necessary to conduct randomized clinical trials for CCCO.
The clear cell renal cell carcinoma (also called common, conventional or non papillary renal cell carcinoma, CCRCC), is a distinct subtype of renal cell carcinoma, possibly originating from mature renal tubular cells in the proximal tubule of the nehpron.
Tibial hemimelia-split hand/foot syndrome (TH-SHFM) is a rare constellation of multiple congenital malformations which includes Ectrodactyly (Lobster claw deformity or Cleft hand/foot) with a wide range of phenotypes of absent tibia/tibial hemimelia or long bone deficiency(1,2). We describe a proposita with these characteristic anomalies in absence of family history of malformations. This was associated with sacral agenesis, anorectal atresia, hemi-vertebra and ventricular septal defect, hither to undescribed.