MECP2-related severe neonatal encephalopathy is a rare genetic condition that affects the brain development of newborn babies. It is caused by mutations in the MECP2 gene, which is located on the X chromosome. This condition primarily affects boys, as it…
DOORS syndrome, also known as Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures syndrome, is a rare genetic condition that affects multiple systems of the body. It is characterized by the presence of hearing loss, abnormalities in the nails and bones,…
The DOCK6 gene, also known as dedicator of cytokinesis 6, is a rac1 guanine nucleotide exchange factor. It is involved in cell signaling pathways and plays a crucial role in various biological processes. The DOCK6 gene codes for proteins that…
The IGFBP7 gene, also known as the insulin-like growth factor binding protein 7 gene, is a genetic sequence that encodes for the production of a protein called IGFBP7. This protein plays a role in various biological processes, including cell growth,…
The ATM gene, also known as the ataxia-telangiectasia related gene, is a gene that is responsible for causing health changes in individuals who have certain genetic variants. The ATM gene plays a vital role in coordinating various cellular processes, particularly…
Juvenile Primary Lateral Sclerosis (JPLS) is a rare genetic condition, associated with the ALSIN gene. It is one of the primary lateral sclerosis variants, characterized by progressive weakness and stiffness in the arms and legs. This condition is inherited in…
The ATP6V1B1 gene, also known as the “ATPase H+ transporting accessory protein 1” gene, is listed in several scientific and clinical databases as being associated with various diseases and conditions related to renal and sensorineural changes. This gene is responsible…
The TBX5 gene is one of the important genes involved in the development of Holt-Oram syndrome. Holt-Oram syndrome is a genetic condition that affects the bones in the arms and hands, as well as the heart. The TBX5 gene provides…
Polycythemia vera is a rare disease that is associated with an abnormal increase in the number of red blood cells in the bloodstream. Also known as primary polycythemia, this condition causes the blood to become thicker, which can lead to…
One of the genes that play a crucial role in human health is DYNC1H1. This gene is responsible for the production of dynein-dynactin complex, which is involved in the transport of various cellular components within the cell. It is also…