Pulmonary arterial hypertension (PAH) is a rare, progressive condition characterized by high blood pressure in the arteries of the lungs. It is a primary type of pulmonary hypertension, meaning that it is not caused by another underlying condition. Scientific research…
The PNPLA6 gene, also known as Patatin-like phospholipase domain-containing protein 6, encodes an enzyme called neuropathy target esterase (NTE). This gene is listed in various databases, including the Online Mendelian Inheritance in Man (OMIM) and the Human Genome Variation Society…
The PACS1 gene (Protein Associated with CAKinase Signalosome 1) is a gene that encodes the PACS1 protein. This protein is involved in the regulation of intracellular protein transport and signaling pathways. Mutations in the PACS1 gene have been linked to…
In the field of genetics, there are numerous genetic conditions that have been identified and studied. One such condition is a disease that is inherited in a dominant manner and is known as juvenile-onset atresia. This condition is characterized by…
The SEC23B gene is a significant gene associated with dyserythropoietic anemia syndromes. Mutations in this gene can lead to various health conditions, including congenital dyserythropoietic anemia type II (CDA II), also known as SEC23B-CDAN2 syndrome. These syndromes are characterized by…
Kuskokwim syndrome is a rare genetic condition that affects collagen production. It is named after the Yupik people of the Kuskokwim River region in Alaska, where the syndrome was first identified. This syndrome is classified as a form of Ehlers-Danlos…
The GNAT2 gene is a genetic sequence that is responsible for encoding the alpha-subunit of transducin G protein, which plays a crucial role in visual transduction. Mutations in this gene have been found to cause various disorders related to color…
The FOXP3 gene is a vital gene in the regulation of immune system function. It plays a crucial role in maintaining the balance between immune activation and tolerance to self-antigens. Mutations in the FOXP3 gene can result in various diseases…
Li-Fraumeni Syndrome (LFS) is a rare genetic condition associated with an increased risk of developing multiple types of cancers. It was first described in 1969 by Drs. Frederick Li and Joseph Fraumeni, and it is now recognized as a well-documented…
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) is a rare genetic condition that affects the skin and limbs. It is a congenital disorder, meaning it is present from birth. The syndrome is named after the specific symptoms…