Aicardi syndrome is a rare genetic condition that affects only females. It is believed to be caused by a spontaneous mutation in one of the genes on the X chromosome, although the exact cause is still unknown. The National Institute…
The AMN gene, also known as AMN, is a gene responsible for encoding a protein called amen, which plays a crucial role in the body. Mutations in this gene can lead to a condition known as AMN proteinuria, which is…
X-linked chondrodysplasia punctata 2 X-linked Chondrodysplasia Punctata 2 is a rare genetic condition that affects newborns. It is often inherited in an X-linked pattern, meaning that it is more common in males. This condition is typically present at birth and…
The ABHD5 gene, also known as the CGI-58 gene, is an important gene that is involved in various health conditions. This gene codes for the ABHD5 protein, which is involved in the breakdown of fats in the body. Changes in…
Klippel-Feil syndrome, a rare congenital condition, is caused by abnormal formation and fusion of the bones in the neck and spine. This leads to a range of problems, including a short, webbed neck and limited range of motion in the…
The PGK1 gene is responsible for encoding the phosphoglycerate kinase enzyme, which plays a crucial role in the glycolysis pathway. This pathway is responsible for converting glucose into energy in the form of ATP. Phosphoglycerate kinase is an important kinase…
The TSC2 gene is a gene that is associated with a condition called tuberous sclerosis complex (TSC). TSC is a genetic disorder that affects various organs in the body and can cause a wide range of symptoms. There are a…
The ABCC6 gene is a gene responsible for a condition known as pseudoxanthoma elasticum, which is a rare genetic disorder that affects the elastic tissues in the body. It is typically characterized by abnormal calcification of the skin, eyes, and…
The HNF1A gene, also known as the HNF1 homeobox A gene, is responsible for coding a transcription factor that plays a crucial role in the regulation of gene expression. This gene has been linked to several diseases and conditions, including…
CASK-related intellectual disability CASK-related intellectual disability is a rare form of intellectual disability that is caused by mutations in the CASK gene. The CASK gene provides instructions for making a protein that is essential for normal brain development and function.…