CHARGE syndrome is a rare genetic condition that affects multiple areas of the body. The name “CHARGE” is an acronym for some of the key features of the condition: cleft palate, heart defects, choanal atresia (a blockage of the nasal…
The ACVR1 (activin A receptor, type 1) gene is responsible for encoding a protein that plays a crucial role in cellular signaling. This gene is listed in various databases and resources such as OMIM, PubMed, and the Genetic Testing Registry.…
The WAGR syndrome is a rare genetic condition that affects many aspects of a person’s health and development. WAGR is an acronym for Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability, which are some of the main features of this…
Leptin receptor deficiency, also known as congenital leptin receptor-related obesity, is a rare genetic condition that affects the development and inheritance of the leptin receptor gene. The leptin receptor is a protein that plays a critical role in regulating appetite…
Prader-Willi syndrome (PWS) is a rare genetic disorder, with a frequency of approximately 1 in 10,000 to 30,000 individuals. It is a complex condition that affects various aspects of a patient’s life, including their physical and intellectual development. PWS is…
RRM2B-related mitochondrial DNA depletion syndrome encephalomyopathic form with renal tubulopathy is a rare genetic condition that is associated with mutations in the RRM2B gene. The RRM2B gene provides instructions for making a protein that is involved in the production and…
The SIL1 gene provides instructions for making a protein called SIL1. This protein is involved in the proper functioning of the endoplasmic reticulum (ER), a structure within cells that is responsible for protein production and transport. Mutations in the SIL1…
The NPC1 gene, also known as the Niemann-Pick C1 gene, is a gene that plays a crucial role in the development and function of cells. It is associated with a group of rare genetic conditions known as Niemann-Pick diseases. These…
The LTBP4 gene, also known as latent transforming growth factor beta binding protein 4, is a genetic factor that plays a crucial role in the health and development of various tissues and organs. Mutations in this gene have been found…
Maturity-onset diabetes of the young (MODY) is a rare form of genetic diabetes that affects children and young adults. It is caused by alterations in certain genes that play a central role in the regulation of blood sugar levels. Unlike…