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…
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…
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.…
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…
Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare autosomal recessive genetic condition characterized by the combination of dilated cardiomyopathy (DCM) and ataxia. It is caused by mutations in certain genes involved in the production of proteins that are essential…
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…
Nijmegen Breakage Syndrome (NBS) is a rare genetic condition that affects the immune system and increases the risk of developing cancer. The syndrome is named after the Dutch city where it was first discovered, and it is estimated to occur…
In the world of genetics, the letter “H” is associated with a complex network of genes that play important roles in various biological processes. One such gene is hps1 (Hermansky-Pudlak Syndrome 1), which is a member of the Hermansky-Pudlak syndrome…
Blepharophimosis Ptosis and Epicanthus Inversus Syndrome, also known as BPES, is a rare genetic condition that affects the eyelids. It is inherited in an autosomal dominant manner, which means that an individual only needs to inherit one copy of the…
The POR gene, also known as cytochrome P450 oxidoreductase, is an essential molecule involved in the variation of cytochrome P450 (CYP) genes. It plays a crucial role in the metabolism and detoxification of various substances in the body. The deficiency…