Category Genetics

The ACAT1 gene, also known as the acetoacetyl-CoA thiolase gene, is a genetic variant that plays a key role in the breakdown of certain fats in the body. This gene is listed in the scientific databases and genetic testing resources…

Jackson-Weiss syndrome is a rare genetic condition associated with the fusion of certain bones in the skull and the abnormal development of the toes. This rare disorder is caused by mutations in specific genes, which are inherited in an autosomal…

Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies, also known as IUGRMDAHCA syndrome, is a rare genetic condition that affects the growth and development of the fetus during pregnancy. This condition is associated with underdevelopment of the…

Deafness and infertility are two separate conditions that can occur independently. However, in some cases, these conditions may be related and have a common underlying cause. One such condition is known as sensorineural deafness-infertility syndrome, which affects both hearing and…

The GRN gene is a protein-coding gene that is thought to play a role in the development and growth of nerve cells in the central nervous system. It is also associated with various conditions related to frontotemporal degeneration, a disorder…

Isolated lissencephaly sequence (ILS) is a rare genetic condition that affects the development of the brain. It is characterized by a smooth surface of the cerebral cortex, known as lissencephaly, and is usually associated with severe intellectual and developmental disabilities.…

Beta-mannosidosis is a rare genetic condition that affects the function of lysosomes, which are compartments in cells that break down waste materials. It is also known by other names such as beta-d-mannosidosis and mannosidosis, beta A, lysosomal. This condition is…

Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a genetic condition characterized by an inheritance pattern, in which the disease is passed down from one generation to the next. It is caused by mutations in certain genes that affect the function of…

TUBB4A-related leukodystrophy is a rare genetic disorder that affects the central nervous system and causes white matter abnormalities in the brain. It is classified under the group of leukoencephalopathies, which are disorders characterized by abnormal development or degeneration of the…

The TBC1D20 gene plays a crucial role in maintaining health by regulating the function of other genes and proteins in the body. When changes occur in this gene, it can lead to various conditions and disorders. One significant role of…