Aarskog-Scott syndrome, also known as faciogenital dysplasia, is a rare genetic condition that affects the development of various parts of the body. It is caused by abnormalities in the FGD1 gene, which regulates cell growth and division. This gene is…
Léri-Weill dyschondrosteosis is a rare genetic condition associated with skeletal abnormalities, primarily affecting the growth plates in the long bones of the arms. It is also known as dyschondrosteosis and is characterized by short stature, particularly in the arms and…
The PROC gene, also known as protein C gene, is responsible for the production of a protein called protein C. This gene is located on the long arm of chromosome 2 and plays a crucial role in the control of…
The PRF1 gene is related to the genetic regulation of cytolytic proteins. It plays a crucial role in the production and regulation of perforin, a key protein involved in immune response. Mutations in the PRF1 gene can lead to various…
Carpenter syndrome, also known as acrocephalopolysyndactyly type II, is a rare genetic disorder that affects the craniofacial region and limbs. It is characterized by the fusion of bones in the skull, commonly resulting in an abnormally shaped head. This condition…
The RANBP2 gene, also known as nucleoporin NUP358, is a central player in a variety of cellular processes. This gene encodes a type of protein called a nucleoporin, which is involved in the transport of molecules across the nuclear envelope.…
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder. It is also called pla2g6-related neurodegeneration, as it is caused by mutations in the PLA2G6 gene. INAD is mainly characterized by progressive neurodegeneration, leading to severe motor and cognitive impairment. The…
The ALMS1 gene is a gene that is involved in the development of Alström syndrome, a rare genetic disorder that affects multiple body systems. Alström syndrome is characterized by various health conditions, including vision and hearing problems, obesity, heart disease,…
The MT-ND6 gene, also known as NADH-ubiquinone oxidoreductase chain 6, is one of the additional genes in the mitochondrial DNA (mtDNA) that plays a crucial role in mitochondrial functions. It encodes for a protein that is a part of the…
The epilepsy-aphasia spectrum refers to a group of conditions characterized by altered electrical activity in specific regions of the brain. These conditions are rare and are typically classified as severe epileptic disorders. They can also be associated with additional neurological…