Nonsyndromic aplasia cutis congenita is a rare congenital condition characterized by the absence of skin, most commonly on the scalp, but can occur on other areas of the body as well. This condition can be caused by various factors, including…
Activated PI3K-delta syndrome (APDS) is a rare genetic condition associated with altered central phosphoinositide 3-kinase (PI3K) signaling. It is also known as APDS1 or p110delta-activating mutation causing senescent T-cells, lymphadenopathy, and immunodeficiency (PASLI). APDS is caused by mutations in the…
The LPIN2 gene, also known as the Majeed syndrome associated protein (MAJSP), has been linked to a number of genetic conditions. It is important to understand the role of this gene in order to develop effective testing and treatment strategies…
The ECM1 gene is responsible for encoding a protein known as extracellular matrix protein 1. This protein is involved in various biological processes and is found in many different tissues and cells throughout the body. Variations in the ECM1 gene…
The CHST3 gene, also known as chondroitin 6-O-sulfotransferase 1, is one of the genes responsible for a group of congenital skeletal dysplasias. These conditions are caused by changes in the CHST3 gene that affect the production and function of the…
Cystinosis is a rare genetic condition that causes damage to the kidneys and other organs. It is caused by mutations in the cystinosin gene. The condition is associated with the build-up of cystine, a type of amino acid, within the…
Potocki-Shaffer syndrome (PSS) is a rare genetic disorder associated with deletions on chromosome 11p11.2. This condition is also known as Potocki-Lupski syndrome. PSS was first described in 1996 by Potocki and Shaffer, who identified the deletion of the PHF21A gene…
Duane-radial ray syndrome, also known as Liebers syndrome or Duane syndrome with radial ray abnormalities, is a rare condition that affects the thumb and finger on one or both hands. This syndrome is characterized by a limited ability to move…
The LZTR1 gene, also known as the leucine zipper-like transcriptional regulator 1 gene, is a gene associated with several genetic conditions, including Noonan syndrome and schwannomatosis. It is involved in the regulation of transcriptional processes and is related to the…
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple parts of the body. It is associated with altered function of certain genes, particularly the NIPBL, SMC1A, and SMC3 genes. CdLS is also known by other names,…