Proopiomelanocortin deficiency is a rare genetic condition that affects the production of a hormone called proopiomelanocortin (POMC). POMC is a precursor protein that is processed to produce several hormones, including adrenocorticotropic hormone (ACTH), melanocyte-stimulating hormone (MSH), and others. Proopiomelanocortin deficiency…
Branchio-oculo-facial syndrome, also known as branchio-oculo-facial syndrome, is a rare genetic disorder that affects the development of the face, eyes, and branchial arches. This syndrome is one of the many diseases included in the OMIM catalog, a comprehensive resource of…
Eye color is one of the fascinating traits that humans possess. It is a topic that has been explored and studied in various scientific studies and articles. The study of eye color genetics has its own chapter within the field…
Nearsightedness, also known as myopia, is a common condition that affects the ability to see objects clearly at a distance. It is estimated that approximately 30% of the world’s population is nearsighted, making it one of the most prevalent vision…
Coffin-Siris syndrome is a rare genetic condition that affects the development of multiple body systems. It is characterized by intellectual disability, distinctive facial features, and hypoplasia of the fifth fingernails and toenails. The syndrome is caused by mutations in several…
Developmental and epileptic encephalopathy 1, commonly abbreviated as DEE1, is a genetic condition that is characterized by both developmental disabilities and epileptic seizures. It is an x-linked disorder that primarily affects males, although there have been rare cases of females…
The SLC25A4 gene, also known as the adenosine triphosphate (ATP)/adenine nucleotide translocator 1 (ANT1) gene, is responsible for producing a protein that plays a crucial role in the movement of adenosine triphosphate (ATP), an essential energy source, across the inner…
PCBD1 gene The PCBD1 gene, also known as the PCBD1 enzyme deficiency, is responsible for a variant form of phenylalanine hydroxylase (PAH) and is associated with phenylketonuria. This genetic deficiency affects the amino acid hydroxylase, causing a deficiency in the…
Cri-du-chat syndrome is a rare genetic condition that occurs when a piece of chromosome 5 is missing. It is also known as 5p- syndrome, 5p deletion syndrome, or Lejeune’s syndrome, named after the French geneticist who first described it in…
Spastic paraplegia type 2, also known as SPG2, is a rare neurodegenerative disorder that affects the central nervous system. It is one of the many types of spastic paraplegias, which are characterized by muscle stiffness and weakness in the lower…