Aspartylglucosaminuria is a rare genetic condition that affects the growth and development of patients. It is caused by a deficiency in the gene responsible for producing the enzyme aspartylglycosaminuria. This deficiency leads to a buildup of the substrate aspartylglycosaminuria in…
3-methylglutaconyl-CoA hydratase deficiency is a rare genetic condition caused by mutations in the AUHM gene . This condition affects the body’s ability to break down certain proteins and can lead to a buildup of toxic substances in the blood and…
The solute carrier family 29, member 3 (SLC29A3) gene is a transporter gene that plays a crucial role in cellular nucleoside homeostasis. It is associated with various diseases and conditions, including histiocytosis-lymphadenopathy plus syndrome and familial Rosai-Dorfman disease. Researchers have…
Genetic conditions 0-9 are a group of disorders caused by various genetic abnormalities. These conditions can affect different aspects of an individual’s health, including metabolism, development, and hormone production. One example of a genetic condition is 3-methylglutaconyl-coa dehydrogenase deficiency (3-MGCDH).…
9q223 microdeletion is a rare genetic condition associated with a missing piece of genetic material on chromosome 9. This condition is also referred to as 9q223 deletion or 9q223 microdeletion syndrome. The specific genes affected by this deletion are not…
The PCCB gene is responsible for encoding the beta subunit of the enzyme propionyl-CoA carboxylase. This enzyme plays a crucial role in the breakdown of certain amino acids and fatty acids in the body. Mutations in the PCCB gene can…
The ARSA gene provides instructions for making an enzyme called arylsulfatase A. This enzyme is involved in the breakdown (degradation) of certain molecules called sulfatides. Mutations in the ARSA gene can cause a deficiency or complete absence of arylsulfatase A…
The ROR2 gene is a member of the receptor tyrosine kinase (RTK) family, which plays a crucial role in the development and maintenance of cells. This gene is responsible for encoding the ROR2 receptor, also known as tyrosine protein kinase…
Perry syndrome is a rare genetic condition that was first described in 1975 by Dr. H.G. Perry. It is characterized by a progressive failure of movement and difficulty with speech and swallowing. While the exact cause of Perry syndrome is…
The EPCAM gene, also known as the EPICD or TACSTD1 gene, is a gene located in the 2q21-q22 region of the human genome. This gene encodes a protein called epithelial cell adhesion molecule (EpCAM) which is involved in cell-to-cell adhesion…