Czech dysplasia, also known as hypoplastic cartilage condition, is a rare genetic condition that affects the development of cartilage in the body. It was first cataloged in 1982 by Zemkova and others, and since then, other researchers have published scientific…
The cortisol test is a medical procedure used to collect and analyze a sample of cortisol hormone in the body. Cortisol is a hormone produced by the adrenal glands, which are located on top of the kidneys. It plays a…
The SATB2 gene is a genetic variant that has been associated with developmental disabilities and neurological abnormalities. It has been the subject of extensive scientific research, with numerous articles and references available through databases such as PubMed and OMIM. Discovered…
The CYP27B1 gene, also known as the cytochrome P450 family 27 subfamily B member 1 gene, is responsible for the production of an enzyme that plays a crucial role in the metabolism of vitamin D. This gene is listed in…
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic condition associated with a high frequency of strokes and other central nervous system damage. It is caused by mutations in the NOTCH3 gene and follows an…
The FANCC gene is a genetic component that plays a crucial role in the Fanconi anemia pathway. Fanconi anemia is a rare genetic disorder that affects people from various ethnic backgrounds. This disease primarily affects bone marrow and leads to…
Distal 18q deletion syndrome, also known as distal 18q-, is a rare genetic condition caused by the loss of genetic material from the long arm (q arm) of chromosome 18. This condition is characterized by a wide range of physical…
The ITGA6 gene, also called integrins alpha 6 or alpha6, is a part of a network of genes that regulate various biological processes. It provides information for the production of alpha6 subunit, which forms a receptor called α6β1 integrin. This…
Cushing’s disease is a rare condition caused by the overproduction of cortisol, a hormone that regulates various functions in the body. It is classified as a pituitary-dependant syndrome, as the cause of the disease is located in the pituitary gland,…
The Adams-Oliver syndrome (AOS) is a rare genetic condition caused by mutations in certain genes. It is characterized by a combination of abnormalities, including scalp defects and limb abnormalities. The condition was first described by doctors Adams and Oliver in…