The cause of<unk>  type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia. Relation to other rare genetic disorders Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Such diseases are becoming known as ciliopathies. Known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.
Senior–Løken syndrome
Smith–Fineman–Myers syndrome
McGillivray syndrome
Bhaskar–Jagannathan syndrome
Jacobsen syndrome
Kearns–Sayre syndrome
Jaffe–Campanacci syndrome
Melnick–Needles syndrome