NPHPrelated
NPHPrelated is a term used in genetics and medicine to describe a group of genetic disorders that share clinical and molecular characteristics with Autosomal Recessive Polycystic Kidney Disease (ARPKD), also known as Autosomal Recessive Polycystic Kidney Disease 1 (PKHD1). While ARPKD is caused by mutations in the PKHD1 gene, NPHPrelated conditions involve mutations in other genes that, nevertheless, lead to similar or overlapping phenotypes.
These disorders often manifest with kidney abnormalities, particularly cystic kidney disease. The spectrum of kidney involvement
The genetic basis of NPHPrelated disorders is diverse. Several genes have been identified that, when mutated,
Diagnosis of NPHPrelated conditions typically involves a combination of clinical evaluation, family history, genetic testing, and