Category: Genetics

Bardet-Biedl Syndrome (BBS) is a rare genetic condition with a frequency of about 1 in 140,000 newborns and a citation in the literature dating back to the 1920s. It is a pleiotropic disorder, meaning it…

Sturge-Weber syndrome is a rare genetic condition that is characterized by the presence of a hemangioma, a type of abnormal blood vessel growth, on the face and/or within the brain. It can affect various organs…

Bare lymphocyte syndrome type II, also known as Major Histocompatibility Complex (MHC) class II deficiency, is a rare genetic condition that causes a deficiency in the genes responsible for the production of MHC class II…

Krabbe disease, also known as globoid cell leukodystrophy, is a rare and progressive genetic disorder that affects the central nervous system. It is caused by a deficiency of the enzyme beta-galactosylceramidase (GALC), which is responsible…

X-linked acrogigantism (X-LAG) is a rare genetic condition caused by mutations in the GPR101 gene located on the Xq26 chromosome. The inheritance of X-LAG follows an X-linked recessive pattern, meaning that the condition primarily affects…

Mandibuloacral dysplasia (MAD) is a rare genetic disorder that affects the development of the skeletal system, as well as the skin and nails. It is classified as a laminopathy, which means it is caused by…

The REEP1 gene, also known as SPG31, is associated with hereditary spastic paraplegia (HSP), a condition characterized by progressive weakness and stiffness in the legs. This gene provides instructions for producing a protein that is…

The SOST gene, also known as sclerostin-related gene, is responsible for producing a protein called sclerostin. Mutations in the SOST gene can lead to a variety of bone disorders, including sclerosteosis and van Buchem disease.…

Mucopolysaccharidosis type VI, also known as MPS VI or Maroteaux-Lamy syndrome, is a rare genetic condition characterized by the accumulation of certain molecules called glycosaminoglycans (GAGs) in the body’s tissues. It is one of the…

The PRKRA gene, also known as DYT16, is a key gene involved in the genetic process of dystonia, a group of movement disorders characterized by involuntary muscle contractions. Dystonia can affect various parts of the…