EDN3 gene
EDN3 gene, also known as endothelin-3 gene, is a gene that plays a crucial role in various biological processes. It is one of the genes that encode for endothelins, a family of peptides involved in regulating vascular tone and cell…
Expert
Isolated hyperCKemia
Isolated hyperCKemia is a rare condition characterized by elevated levels of creatine kinase (CK) in the blood, without any clinical symptoms or muscle weakness. It is a genetic disorder caused by mutations in the caveolinopathy gene, which is involved in…
OSMR gene
The OSMR gene encodes for the Oncostatin M receptor (OSMR), which is a receptor protein involved in various genetic and cell signaling processes. It plays a crucial role in regulating the immune response, inflammation, and tissue repair. The OSMR gene…
CLN1 disease
CLN1 disease is a rare genetic condition that affects the nervous system. Also known as infantile neuronal ceroid lipofuscinosis, this disease is typically characterized by the onset of symptoms in infancy. It is caused by mutations in the CLN1 gene,…
Pitt-Hopkins syndrome
Pitt-Hopkins syndrome is a rare genetic condition that is caused by mutations in the TCF4 gene. It was first described in 1978 by Drs. Pitt and Hopkins, hence the name. The syndrome is characterized by a range of physical and…
Androgen insensitivity syndrome
Androgen insensitivity syndrome, also known as AIS, is a rare genetic condition that affects the development of the sexual anatomy and characteristics in individuals assigned male at birth. This condition occurs when there is a mutation in the gene that…
Cognitive Testing
When it comes to testing our cognitive abilities, sometimes we may feel alone and wonder what exactly a neurologist is looking for. The truth is, there are many things that can be assessed during cognitive testing. One important aspect is…
D2HGDH gene
The D2HGDH gene, also known as the D-2-hydroxyglutaric aciduria gene, is responsible for encoding an enzyme called D-2-hydroxyglutarate dehydrogenase. This gene is listed under the name “D2HGDH” in various genetic resources and databases, such as OMIM and the GeneTests registry.…
NDP gene
The NDP gene plays a crucial role in the vitreoretinopathy condition, a primary gene found in the retina. It is related to the norrin and other familial proteins, causing changes in the normal function of the vitreous and retinal receptors.…
FOXF1 gene
The FOXF1 gene is a genetic variant that has been shown to be associated with various diseases and health conditions. It is primarily known for its role in pulmonary vein misalignment and alveolar capillary dysplasia with misalignment of pulmonary veins…