Schwannomatosis is a rare genetic condition characterized by the development of multiple schwannomas, which are tumors that arise from the Schwann cells that surround nerves. Unlike other forms of schwannomatosis, such as type 2 neurofibromatosis, the genetic cause of schwannomatosis…
Pseudoachondroplasia is a rare genetic condition that affects the growth and development of bones. It is caused by mutations in certain genes, which leads to abnormal cartilage and bone formation. Individuals with pseudoachondroplasia are typically shorter than average and have…
The PPT1 gene is responsible for producing an enzyme called palmitoyl-protein thioesterase 1. This enzyme plays a crucial role in breaking down certain fatty acids in the body. Mutations in the PPT1 gene can lead to a rare neurodegenerative disorder…
The BCKDHB gene provides instructions for making a protein called branched-chain keto acid dehydrogenase (BCKDH) beta subunit. This protein is part of a complex that helps break down three specific protein building blocks (amino acids): leucine, isoleucine, and valine. These…
McKusick-Kaufman syndrome (MKKS) is a rare genetic condition that affects the development of various systems in the body. It is caused by mutations in the MKKS gene, which is associated with the production of certain proteins. These proteins play a…
Pallister-Hall Syndrome is a rare genetic condition associated with mutations in the GLI3 gene. This syndrome was first described by Pallister and Hall in 1980. It is characterized by a wide range of clinical features, including abnormalities in the development…
Blepharocheilodontic syndrome, also known as blepharo-cheilo-odontic syndrome, is a rare genetic condition that affects the face, teeth, and eyes. It is characterized by abnormalities such as ectropion (outward turning of the eyelids), cleft lip and/or palate, and dental defects. The…
The OPA3 gene is a scientific term used to refer to the gene that is responsible for the development of certain conditions such as optic atrophy type 3 and cataracts. These conditions are autosomal dominant, which means that only one…
The KRT83 gene, also known as the hair-specific keratin gene, is listed on various databases and resources related to genetic information and health. It has been associated with a range of conditions and diseases, including erythrokeratodermia variabilis et progressiva and…
The TRPM6 gene encodes a protein known as transient receptor potential cation channel subfamily M member 6. This channel is primarily expressed in the distal convoluted tubules of the kidney, where it plays a crucial role in the reabsorption of…