Complex or multifactorial disorders are health conditions that are caused by a combination of genetic and environmental factors. Unlike single-gene disorders, which are caused by a mutation in a single gene, complex disorders involve multiple genes and other contributing factors.…
The NPRL2 (NPR2-like protein 2) gene is a crucial gene that plays a significant role in regulating various biological processes related to health and diseases. It is found in humans and other organisms, and its functions and interactions have been…
Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, is a rare genetic condition that affects the body’s ability to break down certain medicines and chemicals. It is caused by mutations in the BCHE gene, which provides instructions for making an enzyme…
The MT-TL1 gene, also known as the Mitochondrially Encoded TRNA Leucine 1 (UUA/G) gene, is a gene that is involved in the production of a specific type of RNA molecule called transfer RNA (tRNA). This gene is located in the…
The SP110 gene, also known as the nuclear body protein SP110, is a gene that encodes a protein involved in various cellular processes. It is mainly expressed in the immune system and plays a role in the regulation of immune…
The PHEX gene is a genetic sequence that encodes a protein known as Phosphate-regulating gene with Homologies to Endopeptidases on the X chromosome (PHEX). This protein plays a crucial role in the reabsorb of phosphate, a vital mineral for the…
X-linked severe combined immunodeficiency (X-SCID) is a rare genetic condition that affects the immune system, resulting in severe immunodeficiency. This condition primarily affects males, as it is caused by a mutation in the gene responsible for the development and function…
Farber lipogranulomatosis, also known as Farber disease, is a rare genetic disorder characterized by a deficiency of the enzyme acid ceramidase. This autosomal recessive condition affects the metabolism of certain lipids, resulting in the accumulation of ceramides in various tissues…
Proopiomelanocortin deficiency is a rare genetic condition that affects the production of a hormone called proopiomelanocortin (POMC). POMC is a precursor protein that is processed to produce several hormones, including adrenocorticotropic hormone (ACTH), melanocyte-stimulating hormone (MSH), and others. Proopiomelanocortin deficiency…
Branchio-oculo-facial syndrome, also known as branchio-oculo-facial syndrome, is a rare genetic disorder that affects the development of the face, eyes, and branchial arches. This syndrome is one of the many diseases included in the OMIM catalog, a comprehensive resource of…