Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare genetic disorder with an autosomal recessive inheritance pattern. It is also known as autoimmune polyglandular syndrome type 1 (APS1). APECED is characterized by the presence of multiple endocrine organ failure, chronic mucocutaneous candidiasis,…
Choroideremia is a rare genetic condition that primarily affects the cells in the retina. It is caused by mutations in the CHM gene, also known as the REP-1 gene. The CHM gene provides instructions for making a protein that is…
Coffin-Lowry syndrome is a rare genetic condition that primarily affects males. It is a rare inheritance condition that is caused by mutations in the RPS6KA3 gene. The syndrome is characterized by severe intellectual disability, distinctive facial features, and delayed development.…
Kaufman oculocerebrofacial syndrome is a rare condition characterized by a distinct facial appearance, developmental delay, and other neurological abnormalities. It was first described in 1970 by David W. Kaufman and Robert J. Bauman. The syndrome is also known as 3q23…
The MSX2 gene is listed in the OMIM (Online Mendelian Inheritance in Man) registry and is particularly associated with conditions affecting the bones. It plays a crucial role in the regulation and differentiation of bone cells, leading to the normal…
The IL2RG gene, also listed as “interleukin 2 receptor subunit gamma,” is a gene located on the X chromosome. This gene is responsible for encoding the cytokine receptor common gamma chain, which plays a crucial role in regulating the immune…
The POGZ gene, also known as Placenta and Ovary Zinc Finger protein, is a gene that plays a crucial role in the development and proper functioning of the human body. It was first identified and cataloged in the Online Mendelian…
Spastic paraplegia type 31 is a rare genetic condition characterized by spasticity and weakness in the legs. It is one of the many types of hereditary spastic paraplegia, a group of diseases that affect the neurons responsible for muscle control…
The SH3BP2 gene is a key element in the health and proper functioning of cells. Genes play a crucial role in various biological processes, and this particular gene has been extensively studied and documented. It is listed in several genetic…
The HLA-B gene is a genetic factor that plays a crucial role in the immune system. It encodes proteins known as human leukocyte antigen (HLA) class I molecules, which are found on the surface of cells. There are many versions,…