Category: Genetics

The HOXA13 gene is a key player in the development of various tissues and organs in humans. It is part of the HOX gene family, which consists of a group of genes that encode transcription…

Orthostatic hypotension, also known as postural hypotension, is a medical condition characterized by a decrease in blood pressure when a person stands up. This condition can result in symptoms such as dizziness, lightheadedness, and fainting.…

Rigid spine muscular dystrophy (RSMD) is a rare form of muscular dystrophy characterized by severe muscle rigidity. It is also known as Rigid Spine Syndrome (RSS) or RSMD1, with SELENON gene mutations being the most…

Autosomal dominant optic atrophy and cataract is a rare genetic condition characterized by progressive impairment of the optic nerve, resulting in visual problems and the development of cataracts. It is associated with mutations in specific…

The ZEB2 gene, also known as ZFHX1B, belongs to a group of related genes that play a vital role in the development and function of various systems in the human body. This gene is listed…

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is a rare genetic condition that affects the adrenal gland. This condition is caused by mutations in the gene encoding 11-beta-monooxygenase, which is involved in the conversion…

17-beta hydroxysteroid dehydrogenase 3 deficiency, also known as 17beta-HSD3 deficiency, is a rare genetic condition. It is associated with the gene HSD17B3 and is inherited in an autosomal recessive manner. This condition causes a deficiency…

The TNXB gene is responsible for encoding the protein Tenascin-X. Mutations in this gene can lead to various conditions, including Ehlers-Danlos syndrome, classical-like Ehlers-Danlos syndrome, and hypermobility-type Ehlers-Danlos syndrome. These syndromes are characterized by changes…

Genes play a crucial role in the development and functioning of living organisms. They are the building blocks of life, responsible for the inherited traits and characteristics that define each individual. Among the many genes…

Nonsyndromic congenital nail disorder 10, also known as onychauxis, is a rare genetic disorder that affects the nails. It is characterized by an abnormal thickening and overgrowth of the nails, leading to a variety of…