Hyaline fibromatosis syndrome, also known as hyaline fibromatosis or infantile systemic hyalinosis, is a rare genetic condition characterized by the accumulation of hyaline material in various tissues and organs. This syndrome is associated with mutations in the Capillary morphogenesis gene…
Hennekam Syndrome, also known as Hennekam Lymphangiectasia-Lymphedema Syndrome, is a rare genetic disorder. It is characterized by abnormal lymphatic system function, lymphangiectasia (dilation of lymphatic vessels), and lymphedema (swelling caused by impaired lymphatic drainage). This syndrome was first described in…
The LRRK2 gene, also known as leucine-rich repeat kinase 2, is a gene that is related to several health conditions. Mutations in this gene have been found to be associated with an increased risk for developing Crohn’s disease and Parkinson’s…
3-methylcrotonyl-CoA carboxylase deficiency is a rare genetic condition. It is also known by other names such as 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonylglycinuria, and 3-methylcrotonylglycinemia. The condition is associated with a deficiency of the enzyme 3-methylcrotonyl-CoA carboxylase, which is essential for the…
This article provides information on the MT-ND4 gene, which is related to optic neuropathy and other hereditary diseases. The MT-ND4 gene is one of several genes found within the mitochondrial DNA (mtDNA) that encode for the complex I enzyme. This…
Cyclic neutropenia is a rare genetic condition characterized by recurrent episodes of abnormally low levels of neutrophils, a type of white blood cell that helps fight infections. Neutropenia can lead to increased susceptibility to infections and other health problems. This…
The SIX3 gene is a genetic sequence that is related to various health conditions. It provides instructions for making a protein that is involved in the development of several organs and tissues in the body. One of its key roles…
The KCNK9 gene, also known as KT32, belongs to a family of genes that code for potassium channel proteins. These proteins are involved in the regulation of electrical activity in cells, including neurons in the brain. The KCNK9 gene is…
The GJC2 gene, also known as connexin-47 (Cx47), is a gene that plays a crucial role in the functioning of the nervous system. It is primarily involved in the formation of gap junctions, specialized structures that allow for direct communication…
The NRAS gene, also known as neuroblastoma RAS viral oncogene homolog, is a key factor in the development and progression of various cancers, including neuroblastoma, melanoma, and lung cancer. This gene encodes a small GTPase protein that plays a crucial…