Cyclic Vomiting Syndrome (CVS) is a rare disorder characterized by episodes of severe vomiting and nausea. This condition predominantly affects children, but it can also persist into adulthood. The exact cause of CVS remains unknown,…
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AVP gene
The AVP gene, also known as the arginine vasopressin gene, encodes the arginine vasopressin hormone. This hormone plays a crucial role in regulating water balance in the body. It is produced by the neurohypophysis and…
GRHPR gene
GRHPR is a gene that encodes the enzyme glyoxylate reductase/hydroxypyruvate reductase, which is primarily expressed in the kidney. The GRHPR gene plays a crucial role in the metabolism of glyoxylate and hydroxypyruvate, by converting them…
Mowat-Wilson syndrome
Mowat-Wilson Syndrome is a rare genetic condition that was first described in 1998 by Mowat, David, and Wilson. It is characterized by multiple congenital anomalies including distinctive facial features, intellectual disability, and other developmental abnormalities.…