Congenital hepatic fibrosis (CHF) is a rare genetic condition that affects the development of the liver and gallbladder. It is characterized by the presence of abnormal fibrous tissue in these organs, which can lead to various complications. Research on CHF…
The TP53 gene, also known as the tumor protein 53, is a key gene involved in the control of the cell cycle and the prevention of cancerous growth. Mutations in this gene have been found in various types of cancer,…
The G6PC gene is associated with glycogen storage disease type Ia (GSDIA). GSDIA is a genetic disease that affects the storage of glycogen, a form of glucose, in the body. It is listed in the OMIM database, which contains information…
If you have symptoms of malaria or if you’ve traveled to parts of the world where malaria is common, it’s important to get tested. Malaria is a serious disease caused by parasites that are transmitted through the bite of infected…
Yuan-Harel-Lupski syndrome, also known as Potocki-Lupski syndrome, is a rare genetic disorder caused by duplications in a specific region of chromosome 17. This syndrome is named after the three scientists who first identified and described it: Dr. Claudia M. B.…
When people have normal lung function, they don’t really think about it. Breathing is just something that happens automatically, without much effort or thought. However, for those with certain types of lung diseases, breathing may not come as easily. Lung…
Enlarged parietal foramina, also known as foramen parietal occultum, is a rare genetic condition. It is inherited in an autosomal dominant manner, meaning that individuals with one copy of the mutated gene have a 50% chance of passing the condition…
Mucolipidosis III gamma, also known as Raas-Rothschild syndrome, is a rare autosomal recessive lysosomal storage disorder. This condition is caused by mutations in the gene GNPTG, which is associated with the protein N-acetylglucosamine-1-phosphate transferase gamma subunit. Mucolipidosis III gamma is…
The SALL4 gene is a genetic variant that plays a crucial role in various developmental processes in the human body. It has been linked to a number of disorders and conditions, including coloboma, limb abnormalities, and changes in organ function.…
Fanconi Anemia (FA) is a rare genetic condition that affects both males and females. It is characterized by a pattern of bone marrow failure, physical abnormalities, and an increased risk of cancer. FA is caused by mutations in genes that…