Spondyloenchondrodysplasia with immune dysregulation is a rare autosomal recessive genetic condition characterized by abnormal bone and cartilage development. It is associated with immune dysregulation, which leads to recurrent infections. During the development of the bones, the cartilage undergoes abnormal breakdown…
The ARFGEF2 gene is a gene that is associated with certain conditions such as periventricular heterotopia and other related genetic diseases. It is also known by other names such as Bicaudal D2 and GEP100. Variants of this gene have been…
The HPS1 gene, also known as the Hermansky-Pudlak Syndrome 1 gene, is responsible for causing changes in the genetic makeup that can lead to Hermansky-Pudlak Syndrome (HPS). HPS is a rare genetic disorder that affects various organs and can have…
Legg-Calvé-Perthes disease, also known as LCPD, is a rare condition that affects the development of the hip joint in children. It is usually diagnosed in children between the ages of 4 and 8, but can also occur in younger or…
The CHN1 gene, also known as the Duanes proteins gene, plays a crucial role in the development and functioning of the nervous system. It has been linked to several genetic conditions and diseases, including isolated Duane syndrome, Duane-radial ray syndrome,…
Myotonic dystrophy is a rare genetic condition that affects the muscular functioning of a person. It is one of the many types of muscular dystrophies, a group of diseases that cause muscle weakness and wasting. Myotonic dystrophy is associated with…
The TGM3 gene is part of a group of genes that are associated with the development of different skin diseases and conditions. This group is known as the syndrome of genes. The TGM3 gene provides instructions for making a protein…
Unverricht-Lundborg disease Unverricht-Lundborg disease, also known as cystatin B myoclonus epilepsy, is a rare genetic condition that is inherited in an autosomal recessive manner. It is characterized by myoclonic episodes, which are brief, shock-like jerks of the muscles. The frequency…
Atelosteogenesis Type 2 is a rare genetic condition that affects the development of bones and cartilage. It is one of the various disorders that fall under the category of skeletal dysplasias. Patients with this condition typically have severe bone deformities,…
Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI) is a rare genetic condition that affects both the liver and the immune system. It is also known as Immunodeficiency with Hepatic Veno-Occlusive Disease and NEMO Deficiency Syndrome. This condition is inherited in an…