Expert

Expert

Camurati-Engelmann disease

Camurati-Engelmann Disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic condition characterized by the thickening of the bones in the arms, legs, and skull. It was first described by Camurati and Engelmann in 1929. The exact causes…

ANK1 gene

The ANK1 gene is a vital gene related to brain health and hereditary conditions in humans. It provides instructions for producing a protein called ankyrin, which plays a pivotal role in maintaining the shape and stability of cells, especially in…

FAT4 gene

The FAT4 gene is a gene that plays an important role in the function of the human body. It is involved in several biological processes and has been linked to various diseases and disorders. The gene is listed in several…

TG gene

The TG gene, also known as thyroglobulin gene, is responsible for the production of thyroglobulin, a protein that is crucial for the synthesis of thyroid hormones. Thyroid hormones play a key role in regulating metabolism, growth, and development in the…

RASA1 gene

The RASA1 gene is a crucial gene associated with various conditions and diseases, including cancers and malformation-arteriovenous diseases. It plays a significant role in the regulation and control of the Ras-MAPK signaling pathway, which is responsible for cell growth, differentiation,…

Au-Kline syndrome

The Au-Kline syndrome is a rare genetic condition that affects the bones and other systems in the body. It is also known as Au-Kline Syndrome, Au-Kline Syndrome 2, or Au-Kline Syndrome, Type 2. Patients with Au-Kline syndrome often experience delayed…

GRM6 gene

The GRM6 gene is associated with various conditions related to vision and eye health. Mutations in this gene can result in a range of congenital and progressive diseases, including autosomal recessive congenital stationary night blindness (CSNB1A). The GRM6 gene codes…

EXOSC3 gene

The EXOSC3 gene, also known as RRP40, is a gene that encodes a protein called exosome component 3. This protein is part of a complex called the exosome, which is involved in the degradation and processing of RNA molecules. Mutations…

Pearson syndrome

Pearson syndrome is a rare genetic disorder that affects children and is associated with bone marrow failure. It was first described in a catalog of diseases and was later named after Dr. Pearson who conducted detailed studies on the condition.…

ALG6-congenital disorder of glycosylation

ALG6-congenital disorder of glycosylation (CDG) is a rare genetic condition that affects the glycosylation process. It is associated with mutations in the ALG6 gene, which is responsible for encoding an enzyme involved in the addition of sugar molecules to proteins.…