Channelopathy-associated congenital insensitivity to pain is a rare condition caused by genetic mutations in the genes that encode for ion channels. In this article, we will learn more about the causes, inheritance patterns, and clinical features of this condition. Genes…
Adult polyglucosan body disease (APBD) is a rare genetic condition that affects the nervous system. It was first described by Argov and Vanishinger in 1980 and it is also known by names such as adult polyglucosan body neuropathy and glycogen…
The SOX9 gene is a key player in the development of various genetic conditions and diseases. It is associated with the Campomelic Dysplasia, a rare disorder in which affected individuals exhibit skeletal abnormalities and sex reversal. This gene also plays…
22q11.2 Duplication is a rare genetic condition associated with the duplication of a specific region of DNA on chromosome 22. It is also known as Duplication 22q11.2 or 22q11.2 Duplication Syndrome. This duplication can lead to a wide range of…
Gordon Holmes Syndrome, also known as hypogonadotropic hypogonadism and cerebellar ataxia, is a rare neurological disorder that is associated with impairments in the growth and development of certain cells in the body. This condition is believed to be caused by…
The LCT gene, also known as the lactase gene, is responsible for producing the enzyme lactase. Lactase is essential for the digestion of lactose, a sugar found in milk and dairy products. Variations in the LCT gene can lead to…
The DOLK gene is one of the many genes cataloged in various databases such as PubMed and OMIM. It codes for the production of the enzyme Dolichol Kinase, which is involved in the process of protein glycosylation. Protein glycosylation is…
Primary localized cutaneous amyloidosis is a rare skin condition characterized by the deposition of amyloid proteins in the skin. The disease usually affects adults and presents as macular or nodular lesions on the skin. These lesions are typically accompanied by…
The CISD2 gene, also known as the Wolfram syndrome 2 protein, is a gene that is related to several genetic diseases. The gene is listed in various resources such as the PubMed, the Catalog of Somatic Mutations in Cancer (COSMIC),…
When it comes to the formation of fingerprints, genetics plays a significant role. Scientific articles and studies have shown that the unique patterns on our fingertips are largely determined by our genetic makeup. One of the key genes that has…