Amish lethal microcephaly is a rare condition that occurs with a high frequency in the Amish population. This genetic disorder is characterized by severe microcephaly, which is an abnormal smallness of the head. The condition manifests itself at birth and…
Bipolar disorder, also known as manic-depressive illness, is a mental condition characterized by extreme mood swings. Individuals with bipolar disorder experience episodes of mania and depression, which can significantly impact their daily lives and relationships. Research studies suggest that bipolar…
PDGFRB-associated chronic eosinophilic leukemia, also known as myeloproliferative neoplasms (MPN), is a rare chronic condition characterized by increased production of abnormal eosinophils. These eosinophils are white blood cells that play a role in the immune system’s response to allergies and…
VLDLR-associated cerebellar hypoplasia is a neurological condition that is associated with the VLDLR gene. The VLDLR gene provides instructions for making a protein that is necessary for the development of the nervous system, including the cerebellum. Cerebellar hypoplasia is a…
Nonsyndromic paragangliomas are rare tumors that generally appear in the head and neck. They are known to be associated with excess production of catecholamines, which are hormones that affect the nervous system. Paragangliomas are typically benign and slow-growing, but they…
The anti-müllerian hormone receptor type 2 (AMHR2) gene is a gene that plays a crucial role in the development and functioning of reproductive organs in males and females. It is located on the long arm of chromosome 12. Mutations or…
The CYP27A1 gene is a genetic regulatory gene that plays an important role in the biosynthesis of bile acids. This gene is listed in various scientific resources and registries, such as OMIM, PubMed, and the NCBI Gene Catalog. It belongs…
Isolated ectopia lentis is a rare condition that affects the lenses of the eyes. It is characterized by the displacement of the lens from its normal position in the eye. The frequency of this condition is not well documented, but…
The OPN1MW gene is responsible for the production of a protein called opsin, which is essential for the color vision process. Mutations or deficiencies in this gene can lead to various genetic disorders affecting color perception and vision. These conditions…
The GNAI3 gene, also known as the nucleotide-binding protein subunit alpha-3, is a gene that is related to various genetic conditions and syndromes. It is one of the subunits of the G proteins, a family of proteins that play a…