Chromosome 22 is one of the 23 pairs of chromosomes in humans. It is approximately 50 million base pairs long and contains about 500 to 600 genes. This chromosome plays a crucial role in regulating certain genetic functions, and abnormalities…
Paroxysmal extreme pain disorder is a rare condition that causes episodes of severe pain in various parts of the body. It is a genetic disorder, with some gene mutations being associated with its inheritance. The disorder is so rare that…
Cantú syndrome, also known as hypertrichosis-acromegaloid facial appearance (HAFA) syndrome, is a rare genetic condition. It is a congenital syndrome, meaning it is present from birth, and is usually diagnosed in infancy or early childhood. Children with Cantú syndrome often…
The RFX5 gene, also known as the Regulatory Factor X 5 gene, is involved in the transcriptional regulation of major histocompatibility complex (MHC) class II genes. MHC class II proteins play a critical role in the immune response by presenting…
Systemic scleroderma, also known as systemic sclerosis, is a rare connective tissue disease that affects the skin, blood vessels, and internal organs. It is characterized by excessive collagen deposition, leading to thickening and hardening of the tissues. The exact cause…
The UVSSA gene, also known as the UV-sensitive syndrome associated gene, is an important gene associated with UV sensitivity and related diseases. It is included in various genetic databases and is listed under different names depending on the scientific source.…
Tietz syndrome is a very rare genetic condition that affects hearing and pigmentation. It was first described by Tietz and Pingault in 1993. The syndrome is caused by mutations in the MITF gene, which plays a role in the development…
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…
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…
The SHANK3 gene is a genetic disorder associated with autism spectrum disorder and other related conditions. It is located on chromosome 22q13.3, and deletions or changes in this gene have been found in individuals with autism and other neurodevelopmental disorders.…