The SDHD gene, also known as succinate dehydrogenase complex subunit D, is a gene that is associated with paraganglioma-pheochromocytoma and other related syndromes. Paragangliomas are rare tumors that can develop in various parts of the body, including the head, neck,…
Multiple Myeloma, also known as myeloma, is a rare disease that affects a specific type of white blood cell called plasma cells. These plasma cells are responsible for producing antibodies that help the body fight off infections. However, in multiple…
The MED12 gene is a variant of the mediator of transcription gene, which is associated with various cancerous and noncancerous conditions. This article discusses the role of the MED12 gene in the development of tumors and its relevance in cancer-related…
CTNS gene The CTNS gene is a crucial gene associated with cystinosis, an inherited metabolic disorder that affects the transport of cystine across the lysosomal membrane. This article provides an overview of the CTNS gene and its role in cystinosis,…
EDN3 gene, also known as endothelin-3 gene, is a gene that plays a crucial role in various biological processes. It is one of the genes that encode for endothelins, a family of peptides involved in regulating vascular tone and cell…
Isolated hyperCKemia is a rare condition characterized by elevated levels of creatine kinase (CK) in the blood, without any clinical symptoms or muscle weakness. It is a genetic disorder caused by mutations in the caveolinopathy gene, which is involved in…
The OSMR gene encodes for the Oncostatin M receptor (OSMR), which is a receptor protein involved in various genetic and cell signaling processes. It plays a crucial role in regulating the immune response, inflammation, and tissue repair. The OSMR gene…
CLN1 disease is a rare genetic condition that affects the nervous system. Also known as infantile neuronal ceroid lipofuscinosis, this disease is typically characterized by the onset of symptoms in infancy. It is caused by mutations in the CLN1 gene,…
Pitt-Hopkins syndrome is a rare genetic condition that is caused by mutations in the TCF4 gene. It was first described in 1978 by Drs. Pitt and Hopkins, hence the name. The syndrome is characterized by a range of physical and…
Androgen insensitivity syndrome, also known as AIS, is a rare genetic condition that affects the development of the sexual anatomy and characteristics in individuals assigned male at birth. This condition occurs when there is a mutation in the gene that…