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…
The POLR1D gene is related to the polymerases listed in the OMIM gene catalog. It is a variant gene that plays a crucial role in the synthesis of RNA. Under certain conditions, changes in this gene can lead to various…
CLN7 disease is a rare genetic disorder that belongs to a group of diseases collectively known as neuronal ceroid lipofuscinoses (NCLs). NCLs are a group of severe neurodegenerative disorders characterized by the accumulation of lipopigments within the cells of the…
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…
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…
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…
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…
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 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…
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…