X-linked dystonia-parkinsonism is a rare genetic condition that causes muscle stiffness and involuntary twisting movements, known as dystonia. It primarily affects individuals of Filipino descent, with the highest frequency of cases reported in the Philippines. This condition is also referred…
The MCEE gene is related to methylmalonic acidemia. Methylmalonic acidemia is listed in the Genetic and Rare Diseases Information Center (GARD) registry as well as in other databases. This gene is one of the genes listed in the GeneTests Laboratory…
The DSP gene, also known as the desmoplakin gene, is associated with several diseases and conditions. It is an idiopathic gene that can cause abnormal conditions in various tissues and organs, including the heart. Without proper functioning of the DSP…
The CDKN1C gene, also known as cyclin-dependent kinase inhibitor 1C, is located on chromosome 11p15.5. Mutations in this gene have been found to be associated with several conditions and syndromes, including Beckwith-Wiedemann syndrome, the IMAGe syndrome, and Silver-Russell syndrome. The…
The AKT3 gene is an important gene in human health that is involved in various genetic disorders and syndromes. It is a part of the AKT family of genes, known as AKT1, AKT2, and AKT3, which play critical roles in…
X-linked agammaglobulinemia (XLA) is a rare genetic condition that affects the immune system. It is caused by a variant in a gene called Bruton tyrosine kinase (BTK). Individuals with XLA have a deficiency of B cells, which are responsible for…
Ataxia with oculomotor apraxia is a rare genetic condition characterized by the impairment of coordination and balance, as well as the inability to control eye movements (oculomotor apraxia). It is thought to be caused by mutations in certain genes, such…
The RSPO2 gene, also known as r-spondin-2, is a genetic variant that is related to certain conditions and diseases. It has been found to be overexpressed in certain cancers and plays a role in signaling changes in cells. RSPO2 is…
Type A insulin resistance syndrome is a genetic disorder characterized by insulin resistance, which is the inability of the body’s tissues to respond properly to insulin. Insulin is a hormone that helps regulate glucose (sugar) levels in the bloodstream. In…
Cleidocranial dysplasia is a rare genetic disorder characterized by abnormal development of the bones and teeth. It affects both males and females, with the frequency of occurrence estimated to be between 1 in 100,000 and 1 in 1,000,000 individuals worldwide.…