The NSDHL gene, also known as the NAD(P)H steroid dehydrogenase-like protein, is involved in the biosynthesis of cholesterol and other sterols. Mutations in this gene have been found to cause a rare genetic disorder known as CHILD syndrome (congenital hemidysplasia…
Otopalatodigital syndrome type I (OPD1) is a rare X-linked genetic syndrome. It has a frequency of approximately 1 in 300,000 live births. The condition is inherited in a dominant manner and is usually caused by mutations in the FLNA gene.…
Mucolipidosis type IV, also known as ML IV, is a rare genetic disorder that impairs the body’s ability to process certain fats and proteins. It is caused by mutations in the Mucolipin-1 gene (MCOLN1), which is responsible for the production…
The Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is a rare genetic condition associated with underdeveloped genes. It is one of the rare syndromes that causes intellectual disability, heart defects, and other health issues. The syndrome is named after the scientists who first…
NYX gene, also known as nyctalopin, is a gene that is implicated in several vision-related disorders. It is a gene present on the X chromosome, making it an X-linked gene. The NYX gene is listed in the OMIM database, which…
Spastic paraplegia type 8 (SPG8) is a rare genetic condition characterized by spasticity and weakness in the leg muscles. It is classified as a hereditary spastic paraplegia (HSP), which refers to a group of genetic disorders that cause progressive stiffness…
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic condition that affects the normal function of the G6PD enzyme. This enzyme is important for red blood cell metabolism and plays a crucial role in protecting cells from oxidative damage. The deficiency is…
CLN6 disease is a rare and functional disorder that affects the central nervous system. It is also known by other names such as Batten disease and neuronal ceroid lipofuscinosis. According to OMIM, an online catalog of human genes and genetic…
The SNCA gene, also known as the α-synuclein gene, plays a key role in various neurological conditions such as Parkinson’s disease and dementia with Lewy bodies. This gene is responsible for the production of the α-synuclein protein, which has multiple…
The UTP4 gene, also known as cirrhosis, a genetic disorder that affects the liver, is responsible for producing proteins involved in the formation of ribosomes. Ribosomes are essential cellular structures involved in protein synthesis, and mutations in the UTP4 gene…